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Ontology Browser

Term:
chromosome 17q11.2 deletion syndrome (DOID:0060403)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Facies +     
Fetal Macrosomia +     
Growth Disorders +     
Macrocephaly +     
neurofibromatosis +     
10p Deletion Syndrome (partial) 
16p11.2 Deletion Syndrome  
1q24 Deletion Syndrome  
22q11 Deletion Syndrome +   
3MC syndrome +   
3p deletion syndrome 
46,XX sex reversal 2  
46,XX sex reversal 4  
46,XX sex reversal 5  
46,XY sex reversal 10  
46,XY sex reversal 3  
46,XY sex reversal 4  
46,XY sex reversal 6  
46,XY sex reversal 9  
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
Absent Eyebrows and Eyelashes with Mental Retardation 
achondrogenesis type II  
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
acrodysostosis +   
acrofacial dysostosis Cincinnati type  
acrokeratosis verruciformis  
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
adermatoglyphia  
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
advanced sleep phase syndrome +   
agammaglobulinemia 5  
AGAT deficiency  
age related macular degeneration +   
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Akesson Syndrome 
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Al Gazali Khidr Prem Chandran Syndrome 
Al Kaissi Syndrome  
Al-Raqad Syndrome  
alacrima, achalasia, and impaired intellectual development syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alexander disease  
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
alopecia, neurologic defects, and endocrinopathy syndrome  
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
alopecia-mental retardation syndrome +   
alpha thalassemia-intellectual disability syndrome type 1 
Alzheimer's disease 1 +   
Alzheimer's disease 2  
Alzheimer's disease 3 +   
Alzheimer's disease 4  
Alzheimer's disease 5 
Alzheimer's disease 9  
AMED syndrome  
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
amelogenesis imperfecta type 4  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
AMME complex  
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
Amyotrophic Dystonic Paraplegia 
Andersen-Tawil syndrome  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
ankylosing spondylitis 2 
ankyrin-B-related cardiac arrhythmia  
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Ansell Bywaters Elderking Syndrome 
anterior segment dysgenesis 1  
anterior segment dysgenesis 4  
antithrombin III deficiency  
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
aortic valve disease 1  
aortic valve disease 2  
aortic valve disease 3  
Aphalangia Syndactyly Microcephaly 
aplasia of lacrimal and salivary glands  
apolipoprotein C-III deficiency +   
APP-related cerebral amyloid angiopathy  
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
arrhythmogenic right ventricular dysplasia 1  
arrhythmogenic right ventricular dysplasia 10  
arrhythmogenic right ventricular dysplasia 12  
arrhythmogenic right ventricular dysplasia 13  
arrhythmogenic right ventricular dysplasia 14  
arrhythmogenic right ventricular dysplasia 2  
arrhythmogenic right ventricular dysplasia 3 
arrhythmogenic right ventricular dysplasia 4 
arrhythmogenic right ventricular dysplasia 5  
arrhythmogenic right ventricular dysplasia 8  
arrhythmogenic right ventricular dysplasia 9  
Arthrogryposis Multiplex Congenita Whistling Face 
Arthrogryposis, Mental Retardation, and Seizures  
Asymmetric Short Stature Syndrome 
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
atrial heart septal defect 2  
atrial heart septal defect 5  
atrial heart septal defect 6  
atrial heart septal defect 7  
atrial heart septal defect 8  
atrial heart septal defect 9  
atrial standstill 1  
Au-Kline Syndrome  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
Auriculoosteodysplasia 
autoimmune lymphoproliferative syndrome type 2A  
autoimmune lymphoproliferative syndrome type 4  
autosomal dominant Aarskog syndrome 
autosomal dominant Alport syndrome  
autosomal dominant beta thalassemia  
autosomal dominant centronuclear myopathy +   
autosomal dominant cerebellar ataxia +   
autosomal dominant chondrodysplasia punctata +  
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant craniodiaphyseal dysplasia  
autosomal dominant craniometaphyseal dysplasia  
autosomal dominant cutis laxa +   
autosomal dominant distal hereditary motor neuronopathy +   
Autosomal Dominant Dyskeratosis Congenita +   
autosomal dominant dystrophic epidermolysis bullosa +   
autosomal dominant Emery-Dreifuss muscular dystrophy 4  
autosomal dominant Emery-Dreifuss muscular dystrophy 5  
autosomal dominant Emery-Dreifuss muscular dystrophy 7  
autosomal dominant familial periodic fever  
autosomal dominant familial visceral neuropathy  
autosomal dominant hyaline body myopathy  
autosomal dominant hypocalcemia +   
autosomal dominant hypophosphatemic rickets  
autosomal dominant isolated ectopia lentis 1  
autosomal dominant keratitis +   
autosomal dominant limb-girdle muscular dystrophy +   
autosomal dominant macrothrombocytopenia TUBB1-related  
autosomal dominant mental retardation 50  
autosomal dominant mental retardation 55  
autosomal dominant mental retardation 56  
Autosomal Dominant Mental Retardation 63 with Macrocephaly  
autosomal dominant microcephaly +   
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques  
autosomal dominant nocturnal frontal lobe epilepsy +   
autosomal dominant non-syndromic intellectual disability +   
autosomal dominant nonsyndromic deafness +   
autosomal dominant osteopetrosis 1  
autosomal dominant osteopetrosis 2  
autosomal dominant polycystic kidney disease +   
autosomal dominant progressive external ophthalmoplegia 1  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6  
autosomal dominant pseudohypoaldosteronism type 1  
autosomal dominant Robinow syndrome 1  
autosomal dominant Robinow syndrome 2  
autosomal dominant Robinow syndrome 3  
autosomal dominant sensory ataxia 1  
autosomal dominant severe congenital neutropenia +   
autosomal dominant sideroblastic anemia 4  
autosomal dominant spondyloepiphyseal dysplasia tarda 
autosomal dominant thrombophilia due to protein S deficiency  
autosomal dominant vitreoretinochoroidopathy  
autosomal dominant Wolfram syndrome  
autosomal dominant woolly hair  
autosomal recessive cutis laxa type III +   
autosomal recessive limb-girdle muscular dystrophy type 2P  
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development  
autosomal recessive spinocerebellar ataxia 12  
Axenfeld-Rieger syndrome +   
Axenfeld-Rieger syndrome type 1  
Axenfeld-Rieger syndrome type 2 
Ayme-Gripp syndrome  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Bagatelle Cassidy syndrome 
Bainbridge-Ropers syndrome  
Baker Vinters Syndrome 
Bannayan-Riley-Ruvalcaba syndrome  
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beare-Stevenson cutis gyrata syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Behr syndrome  
Bellini Chiumello Rimoldi Syndrome 
benign familial hematuria  
Benign Familial Macrocephaly 
Berk-Tabatznik Syndrome 
Beukes hip dysplasia  
Bhaskar Jagannathan Syndrome 
Biemond Syndrome II 
bilateral optic nerve hypoplasia  
bilateral perisylvian polymicrogyria +   
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Blau syndrome  
Blepharochalasis and Double Lip 
blepharocheilodontic syndrome +   
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
blepharophimosis-intellectual disability syndrome, SBBYS type  
blue color blindness  
Bohring Syndrome  
Boomerang dysplasia  
Borjeson-Forssman-Lehmann syndrome  
Bosch-Boonstra-Schaaf optic atrophy syndrome  
Bothnian type palmoplantar keratoderma  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type C  
brachydactyly type D  
brachydactyly type E2  
brachydactyly-syndactyly syndrome  
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
brain small vessel disease 1  
brain small vessel disease 2  
branched-chain keto acid dehydrogenase kinase deficiency  
Branchial Cleft Anomalies 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Bresheck/Bresek Syndrome 
bronchiectasis 1  
bronchiectasis 2  
bronchiectasis 3  
Brooke-Spiegler syndrome  
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
Brunner syndrome  
Brunoni Syndrome 
bullous congenital ichthyosiform erythroderma  
Bullous Dystrophy, Hereditary Macular Type 
BURATTI-HAREL SYNDROME  
Burn-McKeown syndrome  
Buschke-Ollendorff syndrome  
C syndrome  
CADASIL 1  
CADASIL 2  
CAHMR Syndrome 
Calvarial Hyperostosis 
Camera Marugo Cohen Syndrome 
campomelic dysplasia +   
Camptodactyly Syndrome Guadalajara Type 2 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cardioacrofacial Dysplasia +   
cardiofaciocutaneous syndrome +   
cardiofaciocutaneous syndrome 1  
cardiofaciocutaneous syndrome 2  
cardiofaciocutaneous syndrome 3  
cardiofaciocutaneous syndrome 4  
Cardiofacioneurodevelopmental Syndrome  
Carney complex +   
Carney-Stratakis syndrome  
Cartwright Nelson Fryns Syndrome 
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 22 multiple types  
cataract 24 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 32 multiple types 
cataract 33  
cataract 37 
cataract 39 multiple types  
cataract 4 multiple types +   
cataract 41  
cataract 42  
cataract 43  
cataract 47  
cataract 5 multiple types  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATIFA Syndrome  
CEBALID Syndrome  
central core disease +   
central precocious puberty 1  
central precocious puberty 2  
Cephalin Lipidosis 
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
cerebellofaciodental syndrome  
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
Cerebral Visual Impairment and Intellectual Disability  
cerebrocostomandibular syndrome  
Cerebrofaciothoracic Dysplasia  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal Syndrome 
Charcot-Marie-Tooth disease axonal type 2C  
Charcot-Marie-Tooth disease axonal type 2CC  
Charcot-Marie-Tooth disease axonal type 2F  
Charcot-Marie-Tooth disease axonal type 2K  
Charcot-Marie-Tooth disease axonal type 2L  
Charcot-Marie-Tooth disease axonal type 2N  
Charcot-Marie-Tooth disease axonal type 2O  
Charcot-Marie-Tooth disease axonal type 2P  
Charcot-Marie-Tooth disease axonal type 2Q  
Charcot-Marie-Tooth disease axonal type 2T  
Charcot-Marie-Tooth disease axonal type 2U  
Charcot-Marie-Tooth disease axonal type 2V  
Charcot-Marie-Tooth disease axonal type 2Z  
Charcot-Marie-Tooth disease dominant intermediate A 
Charcot-Marie-Tooth disease dominant intermediate B +   
Charcot-Marie-Tooth disease dominant intermediate C  
Charcot-Marie-Tooth disease dominant intermediate D  
Charcot-Marie-Tooth disease dominant intermediate E  
Charcot-Marie-Tooth disease dominant intermediate F  
Charcot-Marie-Tooth disease dominant intermediate G  
Charcot-Marie-Tooth disease type 1A  
Charcot-Marie-Tooth disease type 1B  
Charcot-Marie-Tooth disease type 1C  
Charcot-Marie-Tooth disease type 1D  
Charcot-Marie-Tooth disease type 1E  
Charcot-Marie-Tooth disease type 1F  
Charcot-Marie-Tooth disease type 1G  
Charcot-Marie-Tooth disease type 2A1  
Charcot-Marie-Tooth disease type 2A2A  
Charcot-Marie-Tooth disease type 2B  
Charcot-Marie-Tooth disease type 2D  
Charcot-Marie-Tooth disease type 2DD  
Charcot-Marie-Tooth disease type 2E  
Charcot-Marie-Tooth disease type 2I  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease type 2Y  
Charcot-Marie-Tooth disease type 3  
Charcot-Marie-Tooth disease type 4E  
Charcot-Marie-Tooth disease type 5  
Charcot-Marie-Tooth disease, axonal type 2W  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
cherubism +   
childhood onset GLUT1 deficiency syndrome 2  
CHIME syndrome  
CHITAYAT SYNDROME  
Chitty Hall Baraitser Syndrome 
CHOPS Syndrome  
Choroid Plexus Calcification with Mental Retardation 
chromosome 10q23 deletion syndrome  
Chromosome 11p Deletion Syndrome  
chromosome 13q14 deletion syndrome  
Chromosome 13q33-q34 Deletion Syndrome 
chromosome 14q11-q22 deletion syndrome 
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
Chromosome 15q14 Deletion Syndrome 
chromosome 15q24 deletion syndrome  
chromosome 15q25 deletion syndrome 
chromosome 15q26-qter deletion syndrome  
chromosome 16p11.2 deletion syndrome  
chromosome 16p12.1 deletion syndrome  
chromosome 16p12.2-p11.2 deletion syndrome 
chromosome 16q22 deletion syndrome  
Chromosome 17 Deletion  
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome  
A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. (DO)
chromosome 17q12 deletion syndrome  
chromosome 17q23.1-q23.2 deletion syndrome 
Chromosome 18 Pericentric Inversion 
chromosome 18p deletion syndrome  
chromosome 18q deletion syndrome  
chromosome 19p13.13 deletion syndrome 
chromosome 19q13.11 deletion syndrome  
chromosome 1p36 deletion syndrome  
chromosome 1q21.1 deletion syndrome  
chromosome 1q21.1 duplication syndrome 
chromosome 1q41-q42 deletion syndrome +   
chromosome 2p12-p11.2 deletion syndrome 
chromosome 2p16.1-p15 deletion syndrome  
chromosome 2q31.2 deletion syndrome 
chromosome 2q37 deletion syndrome  
chromosome 3q13.31 deletion syndrome 
chromosome 3q29 microdeletion syndrome 
chromosome 4q21 deletion syndrome  
chromosome 5p13 duplication syndrome 
chromosome 5q deletion syndrome  
chromosome 5q12 deletion syndrome 
chromosome 6pter-p24 deletion syndrome 
chromosome 6q11-q14 deletion syndrome 
chromosome 6q24-q25 deletion syndrome 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
chromosome 8q21.11 deletion syndrome 
chromosome 9p deletion syndrome  
chromosome Xp21 deletion syndrome 
Chromosome Xq21 Deletion Syndrome 
Chromosome Xq28 Duplication Syndrome  
Chudley-Rozdilsky Syndrome 
CINCA syndrome  
Clark-Baraitser syndrome  
cleft lip-palate-ectodermal dysplasia syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
Clouston syndrome  
Cochlear Deafness with Myopia and Intellectual Impairment 
CODAS syndrome  
Coffin Syndrome 1 
Coffin-Siris syndrome +   
Cohen syndrome  
Cohen-Gibson Syndrome  
cold-induced sweating syndrome +   
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
combined oxidative phosphorylation deficiency 2  
Combined Pituitary Hormone Deficiency, 1  
complex cortical dysplasia with other brain malformations +   
congenital adrenal insufficiency  
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
congenital central hypoventilation syndrome +   
congenital contractural arachnodactyly  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
congenital diarrhea 6  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
congenital dyserythropoietic anemia type IV  
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
congenital fibrosis of the extraocular muscles 1  
congenital fibrosis of the extraocular muscles 3A  
congenital fibrosis of the extraocular muscles 3C 
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital megabladder  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital muscular dystrophy due to LMNA mutation  
Congenital Muscular Dystrophy plus Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
congenital myasthenic syndrome 18  
congenital myasthenic syndrome 1A  
congenital myasthenic syndrome 1B  
congenital myasthenic syndrome 2A  
congenital myasthenic syndrome 3A  
congenital myasthenic syndrome 4A  
congenital myasthenic syndrome 7  
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
congenital nongoitrous hypothyroidism 2  
congenital nongoitrous hypothyroidism 3 
congenital nongoitrous hypothyroidism 5  
congenital nongoitrous hypothyroidism 6  
congenital nongoitrous hypothyroidism 8  
congenital nystagmus 2 
congenital nystagmus 3 
congenital nystagmus 4 
congenital nystagmus 7 
Congenital Progeroid Syndrome, Petty Type  
congenital stationary night blindness autosomal dominant 1  
congenital stationary night blindness autosomal dominant 2  
congenital stationary night blindness autosomal dominant 3  
congenital symmetric circumferential skin creases 1  
congenital symmetric circumferential skin creases 2  
congenital vertical talus  
Cornelia de Lange syndrome +   
Cornelia de Lange syndrome 1  
Cornelia de Lange syndrome 3  
Cornelia de Lange syndrome 4  
corpus callosum agenesis-abnormal genitalia syndrome  
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
cortisone reductase deficiency 2  
Costello syndrome  
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crouzon syndrome-acanthosis nigricans syndrome  
Crumpled Helices and Small Mouth 
CST3-related cerebral amyloid angiopathy +   
Cubitus Valgus with Mental Retardation and Unusual Facies 
Culler-Jones syndrome  
Curatolo Cilio Pessagno Syndrome 
Curly Hair-Acral Keratoderma-Caries Syndrome 
Currarino syndrome  
Cutis Verticis Gyrata and Mental Deficiency 
Cyprus Facial Neuromusculoskeletal Syndrome 
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
D-2-hydroxyglutaric aciduria 2  
Daish Hardman Lamont Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome 
De Sanctis-Cacchione syndrome  
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness-Craniofacial Syndrome 
deafness-dystonia-optic neuronopathy syndrome  
dehydrated hereditary stomatocytosis 1  
dehydrated hereditary stomatocytosis 2  
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
delta beta-thalassemia +   
Denys-Drash syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
dermatopathia pigmentosa reticularis  
Dermoids of Cornea 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
developmental and epileptic encephalopathy 11  
developmental and epileptic encephalopathy 13  
developmental and epileptic encephalopathy 14  
developmental and epileptic encephalopathy 17  
developmental and epileptic encephalopathy 19  
developmental and epileptic encephalopathy 24  
developmental and epileptic encephalopathy 26  
developmental and epileptic encephalopathy 27  
developmental and epileptic encephalopathy 30  
developmental and epileptic encephalopathy 31  
developmental and epileptic encephalopathy 32  
developmental and epileptic encephalopathy 33  
developmental and epileptic encephalopathy 4  
developmental and epileptic encephalopathy 41  
developmental and epileptic encephalopathy 42  
developmental and epileptic encephalopathy 43  
developmental and epileptic encephalopathy 45  
developmental and epileptic encephalopathy 46  
developmental and epileptic encephalopathy 47  
developmental and epileptic encephalopathy 5  
developmental and epileptic encephalopathy 54  
developmental and epileptic encephalopathy 56  
developmental and epileptic encephalopathy 57  
developmental and epileptic encephalopathy 58  
developmental and epileptic encephalopathy 59  
developmental and epileptic encephalopathy 62  
developmental and epileptic encephalopathy 65  
developmental and epileptic encephalopathy 66  
developmental and epileptic encephalopathy 67  
developmental and epileptic encephalopathy 69  
developmental and epileptic encephalopathy 7  
developmental and epileptic encephalopathy 70  
developmental and epileptic encephalopathy 72  
developmental and epileptic encephalopathy 73  
developmental and epileptic encephalopathy 74  
developmental and epileptic encephalopathy 78  
developmental and epileptic encephalopathy 79  
developmental and epileptic encephalopathy 87  
developmental and epileptic encephalopathy 9  
developmental and epileptic encephalopathy 91  
developmental and epileptic encephalopathy 92  
developmental and epileptic encephalopathy 93  
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
Diamond Blackfan anemia 15 with mandibulofacial dysostosis  
Diamond-Blackfan anemia 1  
Diamond-Blackfan anemia 10  
Diamond-Blackfan anemia 11  
Diamond-Blackfan anemia 12  
Diamond-Blackfan anemia 13  
Diamond-Blackfan anemia 16  
Diamond-Blackfan anemia 17  
Diamond-Blackfan anemia 18  
Diamond-Blackfan anemia 19  
Diamond-Blackfan anemia 2 
Diamond-Blackfan anemia 20  
Diamond-Blackfan anemia 3  
Diamond-Blackfan anemia 4  
Diamond-Blackfan anemia 5  
Diamond-Blackfan anemia 6  
Diamond-Blackfan anemia 7  
Diamond-Blackfan anemia 8  
Diamond-Blackfan anemia 9  
Diaphanospondylodysostosis  
diaphyseal medullary stenosis with malignant fibrous histiocytoma  
dicarboxylic aminoaciduria  
Diets-Jongmans Syndrome  
diffuse cystic renal dysplasia  
DiGeorge syndrome +   
dilated cardiomyopathy 1A  
dilated cardiomyopathy 1AA  
dilated cardiomyopathy 1B  
dilated cardiomyopathy 1C  
dilated cardiomyopathy 1CC  
dilated cardiomyopathy 1D  
dilated cardiomyopathy 1DD  
dilated cardiomyopathy 1E  
dilated cardiomyopathy 1HH  
dilated cardiomyopathy 1II  
dilated cardiomyopathy 1JJ  
dilated cardiomyopathy 1KK  
dilated cardiomyopathy 1NN  
dilated cardiomyopathy 1R  
dilated cardiomyopathy 1S  
dilated cardiomyopathy 1U  
dilated cardiomyopathy 1V  
dilated cardiomyopathy 1Y  
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome  
distal arthrogryposis type 10 
distal arthrogryposis type 1A  
distal arthrogryposis type 1B  
distal arthrogryposis type 2A  
distal arthrogryposis type 2B1  
distal arthrogryposis type 2B2  
distal arthrogryposis type 2B3  
distal arthrogryposis type 3  
distal arthrogryposis type 5  
distal arthrogryposis type 6 
distal arthrogryposis type 7  
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
distal myopathy 1  
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Distal Transverse Limb Defects with Mental Retardation and Spasticity 
DNA ligase IV deficiency  
dominant optic atrophy plus syndrome  
dominant pericentral pigmentary retinopathy 
Donohue syndrome  
DOORS syndrome  
Down syndrome +   
Doyne honeycomb retinal dystrophy  
Dravet syndrome  
Duane-radial ray syndrome  
Dubowitz syndrome  
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave  
Duker Weiss Siber syndrome 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
dyscalculia 
Dyschondrosteosis and Nephritis 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
dysplastic nevus syndrome +   
dystonia 12  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 5  
dystonia 9  
dystransthyretinemic hyperthyroxinemia  
EAST syndrome  
ectodermal dysplasia 10A  
ectodermal dysplasia 11A  
ectodermal dysplasia 12  
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES  
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Mental Retardation, Syndactyly 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Ectrodactyly Cardiopathy Dysmorphism 
Edinburgh Malformation Syndrome 
EEC syndrome +   
Ehlers-Danlos syndrome arthrochalasia type 1  
Ehlers-Danlos syndrome arthrochalasia type 2  
Ehlers-Danlos syndrome classic type 1  
Ehlers-Danlos syndrome classic type 2  
Ehlers-Danlos syndrome periodontal type 1  
Ehlers-Danlos syndrome periodontal type 2  
Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly 
Elliott Ludman Teebi Syndrome 
Emanuel Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
epidermolysis bullosa simplex Dowling-Meara type  
epidermolysis bullosa simplex generalized type +   
epidermolysis bullosa simplex localized type  
epidermolysis bullosa simplex Ogna type  
epidermolysis bullosa simplex with mottled pigmentation  
Epilepsy Telangiectasia 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
epithelial basement membrane dystrophy  
epithelial recurrent erosion dystrophy  
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Erosive Arthropathy 
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 2  
erythrokeratodermia variabilis et progressiva 3  
erythrokeratodermia variabilis et progressiva 6  
essential tremor 1  
essential tremor 2  
essential tremor 4  
essential tremor 5  
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
exudative vitreoretinopathy 1  
exudative vitreoretinopathy 3 
exudative vitreoretinopathy 5  
exudative vitreoretinopathy 6  
exudative vitreoretinopathy 7  
FACES Syndrome 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Fallot Complex with Severe Mental and Growth Retardation 
familial adenomatous polyposis 1  
familial adult myoclonic epilepsy 1  
familial adult myoclonic epilepsy 2  
familial adult myoclonic epilepsy 3  
familial adult myoclonic epilepsy 4  
familial adult myoclonic epilepsy 6  
familial adult myoclonic epilepsy 7  
familial apolipoprotein A5 deficiency  
familial Behcet-like autoinflammatory syndrome  
familial cold autoinflammatory syndrome 1  
familial cold autoinflammatory syndrome 2  
familial cold autoinflammatory syndrome 3  
familial cold autoinflammatory syndrome 4  
Familial Convulsive Disorder with Prenatal or Early Onset 
familial encephalopathy with neuroserpin inclusion bodies  
familial episodic pain syndrome 1  
familial episodic pain syndrome 2  
familial episodic pain syndrome 3  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
familial expansile osteolysis  
familial hypocalciuric hypercalcemia +   
familial juvenile hyperuricemic nephropathy +   
familial male-limited precocious puberty  
Familial Osteochondritis Dissecans  
familial partial lipodystrophy type 2  
familial partial lipodystrophy type 3  
familial partial lipodystrophy type 4  
familial progressive hyperpigmentation with or without hypopigmentation  
familial temporal lobe epilepsy 1  
familial temporal lobe epilepsy 2  
familial temporal lobe epilepsy 3  
familial temporal lobe epilepsy 4 
familial temporal lobe epilepsy 5  
familial temporal lobe epilepsy 6 
familial temporal lobe epilepsy 7  
familial temporal lobe epilepsy 8  
familial visceral amyloidosis  
Fanconi anemia complementation group R  
Fanconi renotubular syndrome 1  
Fanconi renotubular syndrome 3  
Fanconi renotubular syndrome 4  
Faundes-Banka Syndrome  
Feingold syndrome +   
Feingold Trainer Syndrome 
fetal encasement syndrome  
Fetal Growth Retardation +   
FG Syndrome 5 
fibrochondrogenesis +   
fibrochondrogenesis 2  
fibrodysplasia ossificans progressiva  
Filippi syndrome  
Fine-Lubinsky Syndrome 
Fitzsimmons Walson Mellor Syndrome 
Fitzsimmons-McLachlan-Gilbert syndrome 
Floating-Harbor syndrome  
Focal Epilepsy with Speech Disorder and with or without Mental Retardation  
focal nonepidermolytic palmoplantar keratoderma 1  
focal nonepidermolytic palmoplantar keratoderma 2  
focal or diffuse nonepidermolytic palmoplantar keratoderma  
focal segmental glomerulosclerosis 1  
focal segmental glomerulosclerosis 2  
focal segmental glomerulosclerosis 5  
focal segmental glomerulosclerosis 7  
focal segmental glomerulosclerosis 8  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Fragile Site 16p12 
Fraser-Like Syndrome 
Frasier syndrome  
Frias Syndrome 
Fronto-Facio-Nasal Dysplasia 
frontometaphyseal dysplasia 2  
Frontonasal Dysplasia +   
Frontonasal Dysplasia 3  
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Fryns Macrocephaly 
Fryns Syndrome  
Game Friedman Paradice Syndrome 
GAPO syndrome  
Garret Tripp Syndrome 
Gay Feinmesser Cohen Syndrome 
geleophysic dysplasia +   
geleophysic dysplasia 2  
geleophysic dysplasia 3  
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genitopatellar Syndrome  
Giacheti Syndrome 
giant axonal neuropathy 2  
Gillespie syndrome  
gingival fibromatosis 5  
Gingival Fibromatosis with Distinctive Facies 
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
glycogen storage disease IX +   
Glycosylphosphatidylinositol Biosynthesis Defect 16  
gnathodiaphyseal dysplasia  
Goldberg-Shprintzen syndrome  
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Granddad Syndrome 
Grant Syndrome 
granular corneal dystrophy +   
Greig cephalopolysyndactyly syndrome  
GRN-related frontotemporal lobar degeneration with TDP43 inclusions  
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
growth hormone insensitivity syndrome with immune dysregulation 2  
Growth Mental Deficiency Syndrome of Myhre  
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Gurrieri Sammito Bellussi Syndrome 
Guttmacher syndrome  
Hadziselimovic Syndrome 
Hailey-Hailey disease  
Hair Defect with Photosensitivity and Mental Retardation 
Hairy Elbows 
Hajdu-Cheney syndrome  
Hall Riggs Mental Retardation Syndrome 
Hamamy Syndrome  
hand-foot-genital syndrome  
Hanhart Syndrome 
Hao-Fountain Syndrome  
Harel-Yoon Syndrome  
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
hawkinsinuria  
Hecht Scott Syndrome 
Heinz body anemia  
Heme Oxygenase 1 Deficiency  
Hemimegalencephaly +   
Hennekam syndrome +   
heparin cofactor II deficiency  
hereditary angioedema +   
hereditary breast ovarian cancer syndrome  
hereditary diffuse gastric cancer  
hereditary hemorrhagic telangiectasia +   
hereditary lymphedema IA  
hereditary lymphedema IB 
hereditary lymphedema IC  
hereditary lymphedema ID  
hereditary lymphedema II 
hereditary mixed polyposis syndrome 2  
hereditary multiple exostoses +   
hereditary neuropathy with liability to pressure palsies  
hereditary neutrophilia  
hereditary nonpolyposis colorectal cancer type 8  
hereditary sensory and autonomic neuropathy type 1A  
hereditary sensory and autonomic neuropathy type 1C  
hereditary sensory and autonomic neuropathy type 7  
hereditary sensory neuropathy type 1B 
hereditary sensory neuropathy type 1D  
hereditary sensory neuropathy type 1E  
hereditary sensory neuropathy type 1F  
hereditary spastic paraplegia 10  
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 12  
hereditary spastic paraplegia 13  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 17  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 19 
hereditary spastic paraplegia 23  
hereditary spastic paraplegia 29 
hereditary spastic paraplegia 31  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 33  
hereditary spastic paraplegia 36 
hereditary spastic paraplegia 37 
hereditary spastic paraplegia 38 
hereditary spastic paraplegia 3A  
hereditary spastic paraplegia 4  
hereditary spastic paraplegia 41 
hereditary spastic paraplegia 42  
hereditary spastic paraplegia 6  
hereditary spastic paraplegia 72  
hereditary spastic paraplegia 73  
hereditary spastic paraplegia 8  
hereditary spastic paraplegia 9A  
hereditary spherocytosis type 1  
hereditary spherocytosis type 2  
hereditary spherocytosis type 4  
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME  
Hittner Hirsch Kreh Syndrome  
holoprosencephaly +   
holoprosencephaly 1  
Holoprosencephaly 10 
holoprosencephaly 11  
holoprosencephaly 2  
holoprosencephaly 3  
holoprosencephaly 4  
holoprosencephaly 5  
holoprosencephaly 7  
holoprosencephaly 9  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holt-Oram syndrome  
Homozygous 11p15-p14 Deletion Syndrome 
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Hoyeraal Hreidarsson Syndrome  
Humeroradial Synostosis with Craniofacial Anomalies 
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
Hydroxylysinuria 
hyper IgE recurrent infection syndrome 1  
hyperalphalipoproteinemia 1  
hyperekplexia 1  
hyperekplexia 3  
hyperferritinemia-cataract syndrome  
Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Hyperleucine-Isoleucinemia 
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatasia with Mental Retardation +   
Hypertelorism +   
hypertension and brachydactyly syndrome  
hypochondroplasia  
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypogonadotropic hypogonadism 14 with or without anosmia  
hypogonadotropic hypogonadism 15 with or without anosmia  
hypogonadotropic hypogonadism 16 with or without anosmia  
hypogonadotropic hypogonadism 17 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 19 with or without anosmia  
hypogonadotropic hypogonadism 2 with or without anosmia +   
hypogonadotropic hypogonadism 20 with or without anosmia  
hypogonadotropic hypogonadism 21 with or without anosmia  
hypogonadotropic hypogonadism 3 with or without anosmia  
hypogonadotropic hypogonadism 4 with or without anosmia  
hypogonadotropic hypogonadism 5 with or without anosmia +   
hypogonadotropic hypogonadism 6 with or without anosmia  
hypogonadotropic hypogonadism 9 with or without anosmia  
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
hypoinsulinemic hypoglycemia with hemihypertrophy  
Hypomagnesemia, Seizures, and Mental Retardation +   
hypomyelinating leukodystrophy 6  
hypoparathyroidism-deafness-renal disease syndrome  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypophosphatemic nephrolithiasis/osteoporosis 1  
hypophosphatemic nephrolithiasis/osteoporosis 2  
hypoplastic or aplastic tibia with polydactyly  
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Hypospadias-Mental Retardation Syndrome 
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
hypotrichosis 1  
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5  
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome  
Ichthyosis and Male Hypogonadism 
Ichthyosis Cheek Eyebrow Syndrome 
ichthyosis vulgaris +   
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
immunodeficiency 11B  
immunodeficiency 13  
immunodeficiency 14  
immunodeficiency 15A  
immunodeficiency 21  
immunodeficiency 27B  
immunodeficiency 31A  
immunodeficiency 31C  
immunodeficiency 32A  
immunodeficiency 36  
immunodeficiency 39  
immunodeficiency 49  
immunodeficiency 60  
immunodeficiency 70  
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis  
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Infantile Hypotonia with Psychomotor Retardation +   
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Infantile Multisystem Neurologic Disease with Osseous Fragility 
inflammatory bowel disease 21 
inflammatory bowel disease 29  
inflammatory bowel disease 3 
inflammatory bowel disease 30  
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance To  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
INTELLECTUAL DEVELOPMENTAL DISORDER AND HYPOGONADOTROPIC HYPOGONADISM  
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
Intellectual Developmental Disorder with Autism and Speech Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES  
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures  
intellectual developmental disorder with cardiac arrhythmia  
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Intellectual Developmental Disorder with Seizures and Language Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS  
intellectual developmental disorder with short stature and behavioral abnormalities  
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
intellectual disability-severe speech delay-mild dysmorphism syndrome  
intracranial berry aneurysm 1 
intracranial berry aneurysm 3 
intrahepatic cholestasis of pregnancy 1  
intrahepatic cholestasis of pregnancy 3  
iridogoniodysgenesis syndrome +   
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
ischiocoxopodopatellar syndrome  
isolated cleft palate  
isolated elevated serum creatine phosphokinase levels  
isolated microphthalmia 7  
ITM2B-related cerebral amyloid angiopathy 1  
ITM2B-related cerebral amyloid angiopathy 2  
IVIC syndrome  
Jacobsen Syndrome +   
Jagell Holmgren Hofer Syndrome 
Jansen's metaphyseal chondrodysplasia  
Jequier Kozlowski Skeletal Dysplasia 
Johanson-Blizzard syndrome  
Jones Hersh Yusk Syndrome 
Jorgenson Lenz Syndrome 
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 7  
Joubert syndrome 9  
Juberg Hayward Syndrome  
juvenile glaucoma  
juvenile polyposis syndrome +   
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome  
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Kapur Toriello Syndrome 
Karandikar Maria Kamble Syndrome 
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Khalifa Graham Syndrome 
King Denborough syndrome  
KINSSHIP SYNDROME  
Kleefstra syndrome +   
Kleefstra syndrome 1  
Kleefstra syndrome 2  
Klippel-Feil syndrome 1  
Klippel-Feil syndrome 3  
Klippel-Feil syndrome 4  
Kniest dysplasia  
Kniest Like Dysplasia Lethal  
KOHLSCHUTTER-TONZ SYNDROME-LIKE  
Koolen de Vries syndrome  
Koone Rizzo Elias Syndrome 
Kosztolanyi Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Kuster Majewski Hammerstein Syndrome 
Kuzniecky Andermann Syndrome 
LADD syndrome  
Ladda Zonana Ramer syndrome 
Lambert Syndrome 
Langer Mesomelic Dysplasia  
Larsen syndrome  
Larsen-like syndrome B3GAT3 type  
Larsen-Like Syndromes +   
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 
lateral meningocele syndrome  
lattice corneal dystrophy +   
Leber congenital amaurosis 11  
Leber congenital amaurosis 13  
Leber congenital amaurosis with early-onset deafness  
Leichtman Wood Rohn Syndrome 
Lenz-Majewski hyperostotic dwarfism  
Leri Pleonosteosis 
Leri-Weill dyschondrosteosis  
leucine-sensitive hypoglycemia of infancy  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Li-Campeau Syndrome  
Li-Fraumeni syndrome +   
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
Lichtenstein Syndrome 
Light Fixation Seizure Syndrome 
linear skin defects with multiple congenital anomalies 2  
lissencephaly 1  
lissencephaly 10  
lissencephaly 3 +   
lissencephaly 4  
lissencephaly 9 with complex brainstem malformation  
Loeys-Dietz syndrome +   
long QT syndrome 1  
long QT syndrome 10 +   
long QT syndrome 11  
long QT syndrome 12  
long QT syndrome 13  
long QT syndrome 14  
long QT syndrome 15  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 4  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lubani Al Saleh Teebi Syndrome 
LUO-SCHOCH-YAMAMOTO SYNDROME 
Luscan-Lumish syndrome  
Lymphedema, Cardiac Septal Defects, and Characteristic Facies 
lymphedema-distichiasis syndrome +   
Lynch Lee Murday syndrome 
Lynch syndrome +   
Macrocephaly +   
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT  
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation  
macrocephaly-autism syndrome  
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive  
Macrosomia Adiposa Congenita 
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Madelung Deformity 
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
malignant hyperthermia +   
Malocclusion and Short Stature 
Mandibuloacral Dysplasia Progeroid Syndrome  
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Mandibulofacial Dysostosis with Mental Deficiency  
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Mental Retardation Syndrome, Autosomal  
Marinesco-Sjogren syndrome  
Marshall syndrome +   
Marshall-Smith syndrome  
Martsolf syndrome  
Martsolf Syndrome 2  
MASA syndrome  
maturity-onset diabetes of the young +   
Maxillofacial Abnormalities +   
McDonough Syndrome 
McPherson Clemens Syndrome 
Meesmann corneal dystrophy 1  
Meesmann corneal dystrophy 2  
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations  
megalencephalic leukoencephalopathy with subcortical cysts 2B  
Megalencephaly - Cutis Marmorata Telangiectatica Congenita  
Megalencephaly with Dysmyelination 
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Megarbane Syndrome 
Meier-Gorlin syndrome +   
Meier-Gorlin syndrome 6  
melanoma and neural system tumor syndrome  
MEND syndrome  
Menke-Hennekam Syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Associated with Psoriasis 
Mental Retardation Mietens Weber Type 
Mental Retardation Smith Fineman Myers Type 
Mental Retardation Spasticity Ectrodactyly 
Mental Retardation Syndrome, Belgian Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation with Spastic Paraplegia 
Mental Retardation Wolff Type 
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS  
Mental Retardation, Buenos Aires Type 
Mental Retardation, Fra12a Type  
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
metatropic dysplasia  
Methionine Malabsorption Syndrome 
Microcephalic Primordial Dwarfism Toriello Type 
microcephaly +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +   
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microdontia Hypodontia Short Stature 
Microphthalmia and Mental Deficiency 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Miller-Dieker lissencephaly syndrome  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
mitochondrial DNA depletion syndrome 12a  
Mitochondrial Myopathy with Lactic Acidosis  
Miura type epiphyseal chondrodysplasia  
Mollica Pavone Antener Syndrome 
MOMES Syndrome 
monilethrix +   
Monosomy 7 Myelodysplasia and Leukemia Syndrome +   
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mowat-Wilson syndrome  
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Muckle-Wells syndrome  
Muenke syndrome  
Mullegama-Klein-Martinez syndrome  
Mullerian aplasia and hyperandrogenism  
multicentric carpotarsal osteolysis syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
multiple benign circumferential skin creases on limbs +   
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
multiple cutaneous and mucosal venous malformations  
multiple endocrine neoplasia type 1  
multiple endocrine neoplasia type 2A +   
multiple endocrine neoplasia type 2B +   
multiple endocrine neoplasia type 4  
multiple epiphyseal dysplasia 1  
multiple epiphyseal dysplasia 2  
multiple epiphyseal dysplasia 3  
multiple epiphyseal dysplasia 5  
multiple epiphyseal dysplasia 6  
multiple epiphyseal dysplasia with myopia and deafness  
Multiple Pterygium Syndrome, X-Linked 
multiple types of congenital heart defects 6  
Multisystem Autoimmune Disease with Facial Dysmorphism  
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3  
muscular dystrophy-dystroglycanopathy type B6  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myoclonic dystonia 11  
myoclonic dystonia 15 
myoclonic dystonia 26  
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES  
Myotonia with Skeletal Abnormalities and Mental Retardation 
N syndrome 
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
Nablus Mask-Like Facial Syndrome 
Naegeli-Franceschetti-Jadassohn syndrome  
nail-patella syndrome +   
Nathalie Syndrome 
nemaline myopathy 1  
nemaline myopathy 4  
nemaline myopathy 6  
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
nephrotic syndrome type 4  
Neuhauser Syndrome 
neurilemmomatosis  
neurodegeneration with brain iron accumulation 3  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM  
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM 
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES  
Neurodevelopmental disorder with hypotonia and dysmorphic  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES 
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
neurodevelopmental disorder with involuntary movements  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES 
Neurofaciodigitorenal Syndrome 
neurofibromatosis +   
neurofibromatosis 1 +   
neurofibromatosis 2  
Neurofibromatosis Type 5 
Neurofibromatosis, Familial Intestinal 
Neurofibromatosis, Familial Spinal  
Neurofibromatosis, Type 3, Mixed Central and Peripheral 
Neurofibromatosis, Type 4, of Riccardi 
neurofibromatosis-Noonan syndrome  
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome 
neurogenic scapuloperoneal syndrome Kaeser type  
neurooculocardiogenitourinary syndrome  
nevoid basal cell carcinoma syndrome +   
NF1 Microduplication Syndrome 
NFIA-related disorder  
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nijmegen Breakage Syndrome-Like Disorder  
non-syndromic intellectual disability +   
non-syndromic X-linked intellectual disability 93  
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
nonprogressive cerebellar ataxia with mental retardation  
nonsyndromic congenital nail disorder 1  
nonsyndromic congenital nail disorder 2 
nonsyndromic congenital nail disorder 3  
nonsyndromic congenital nail disorder 5 
nonsyndromic congenital nail disorder 6 
nonsyndromic congenital nail disorder 7 
nonsyndromic congenital nail disorder 8  
Noonan syndrome +   
Noonan syndrome 1  
Noonan syndrome 10  
Noonan syndrome 11  
Noonan syndrome 12  
Noonan syndrome 13  
Noonan syndrome 3  
Noonan syndrome 4  
Noonan syndrome 5  
Noonan syndrome 6  
Noonan syndrome 7  
Noonan syndrome 8  
Noonan syndrome 9  
Noonan syndrome with multiple lentigines +   
oblique facial clefting 1  
ocular albinism with sensorineural deafness  
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Oculoskeletodental Syndrome  
Ogden syndrome  
Ohdo syndrome +   
Okur-Chung Neurodevelopmental Syndrome  
Oliver Syndrome 
Oliver-McFarlane syndrome  
omodysplasia 1  
omodysplasia 2  
Onat Syndrome 
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME  
Onychotrichodysplasia and Neutropenia 
Opitz GBBB syndrome type II  
optic atrophy 1  
optic atrophy 10  
optic atrophy 12  
optic atrophy 3  
optic atrophy 4 
optic atrophy 5  
optic atrophy 8 
Orbital Margin, Hypoplasia of 
Oroacral Syndrome, Verloes-Koulischer Type 
orofacial cleft 1  
orofacial cleft 13 
orofacial cleft 6  
orofaciodigital syndrome +   
orofaciodigital syndrome X 
osteogenesis imperfecta type 1  
osteogenesis imperfecta type 2 +   
osteogenesis imperfecta type 3  
osteogenesis imperfecta type 4  
osteogenesis imperfecta type 5  
osteoglophonic dysplasia  
Osteolysis Syndrome, Recessive 
Otofacioosseous-Gonadal Syndrome 
Otoonychoperoneal Syndrome 
otopalatodigital syndrome spectrum disorder +   
otospondylomegaepiphyseal dysplasia, autosomal dominant  
ovarian dysgenesis 8  
overhydrated hereditary stomatocytosis  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
pachyonychia congenita +   
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
palmoplantar keratoderma-deafness syndrome  
palmoplantar keratoderma-esophageal carcinoma syndrome  
pancreatic hypoplasia-diabetes-congenital heart disease syndrome  
PAPA syndrome  
paraganglioma +   
paramyotonia congenita of Von Eulenburg  
parastremmatic dwarfism  
Parkinson's disease 1  
Parkinson's disease 17  
Parkinson's disease 21  
Parkinson's disease 22  
Parkinson's disease 3 
Parkinson's disease 4  
Parkinson's disease 8  
paroxysmal extreme pain disorder  
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Partington Anderson Syndrome 
Pashayan Syndrome 
Patella Hypoplasia Mental Retardation 
Pavone Fiumara Rizzo Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Pelger-Huet anomaly +   
Perlman syndrome  
permanent neonatal diabetes mellitus +   
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Perniola Krajewska Carnevale Syndrome 
Perry syndrome  
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer syndrome  
Pfeiffer Tietze Welte Syndrome 
Phelan-McDermid syndrome  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
photosensitive trichothiodystrophy 1  
piebaldism +   
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
pigmented paravenous chorioretinal atrophy  
Pili Torti, Developmental Delay, Neurological Abnormalities  
Pilotto Syndrome 
Pitt-Hopkins syndrome +   
Piussan Lenaerts Mathieu syndrome 
Plagiocephaly +   
platelet-type bleeding disorder 12 
platelet-type bleeding disorder 14  
platelet-type bleeding disorder 15  
platelet-type bleeding disorder 16  
platelet-type bleeding disorder 17  
platelet-type bleeding disorder 20  
platelet-type bleeding disorder 3  
platelet-type bleeding disorder 9  
Platybasia +  
Pointer Syndrome 
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
polycystic liver disease +   
Polydysspondyly 
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
popliteal pterygium syndrome +   
posterior amorphous corneal dystrophy 
Posterior Exchondrosis of Pinna 
posterior polymorphous corneal dystrophy 1  
posterior polymorphous corneal dystrophy 2  
posterior polymorphous corneal dystrophy 4  
Potato Nose 
Potocki-Shaffer syndrome  
Prader-Willi syndrome +   
Preauricular Fistulae, Congenital 
Premature Aging, Okamoto Type 
Prieto syndrome 
primary ciliary dyskinesia 43  
primary failure of tooth eruption  
primary ovarian insufficiency 11  
primary ovarian insufficiency 16  
primary ovarian insufficiency 3  
primary ovarian insufficiency 5  
primary ovarian insufficiency 6  
primary ovarian insufficiency 7  
Primrose Syndrome  
Progeria Short Stature Pigmented Nevi 
Progeroid Facial Appearance with Hand Anomalies 
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
progressive myoclonus epilepsy 7  
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
progressive osseous heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
proprotein convertase 1/3 deficiency  
protein C deficiency +   
prothrombin thrombophilia 
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation  
proximal symphalangism +   
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
pseudoachondroplasia  
Pseudoaminopterin Syndrome 
Pseudotrisomy 13 Syndrome  
Pseudouridinuria and Mental Defect 
PSPH deficiency  
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
punctate palmoplantar keratoderma type II  
punctate palmoplantar keratoderma type III 
Qazi Markouizos syndrome 
RADIO-TARTAGLIA SYNDROME  
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Rapp-Hodgkin syndrome  
reading disorder +   
Reardon Hall Slaney syndrome 
Reardon Wilson Cavanagh Syndrome 
Renal and Mullerian Duct Hypoplasia +   
renal coloboma syndrome  
Renal Dysplasia - Limb Defects Syndrome 
retinal arterial tortuosity  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
retinal vasculopathy with cerebral leukodystrophy  
retinitis pigmentosa 1  
retinitis pigmentosa 10  
retinitis pigmentosa 11  
retinitis pigmentosa 13  
retinitis pigmentosa 17  
retinitis pigmentosa 18  
retinitis pigmentosa 27  
retinitis pigmentosa 33  
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 4  
retinitis pigmentosa 42  
retinitis pigmentosa 60  
retinitis pigmentosa 63 
retinitis pigmentosa 7  
retinitis pigmentosa 70  
retinitis pigmentosa 83  
retinitis pigmentosa 87  
retinitis pigmentosa 89  
retinitis pigmentosa 9  
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
retinitis pigmentosa-deafness syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Richards-Rundle Syndrome 
Riddle syndrome  
ring dermoid of cornea  
Ritscher-Schinzel syndrome +   
Ritscher-Schinzel syndrome 2  
Roberts syndrome  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinow syndrome +   
Rodrigues Blindness 
Roifman-Chitayat Syndrome  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Romano-Ward Syndrome  
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Rudiger Syndrome 
Ruijs-Aalfs syndrome  
Ruvalcaba Syndrome 
Ruzicka Goerz Anton syndrome 
SADDAN  
Saethre-Chotzen syndrome  
Sammartino De Crecchio Syndrome 
Sao Paulo MCA/MR Syndrome 
SATB2-associated syndrome  
Saul-Wilson syndrome  
Say Meyer Syndrome  
Say Syndrome 
scalp-ear-nipple syndrome  
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
scapuloperoneal spinal muscular atrophy  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
schizophrenia 1 
schizophrenia 10 
schizophrenia 11 
schizophrenia 12 
schizophrenia 15  
schizophrenia 2 
schizophrenia 3 
schizophrenia 4  
schizophrenia 5  
schizophrenia 6  
schizophrenia 7 
schizophrenia 8 
Schnyder corneal dystrophy  
Schofer Beetz Bohl Syndrome 
Scholte Syndrome 
Schopf-Schulz-Passarge syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
Sclerosing Bone Dysplasia, Mental Retardation 
sclerosteosis 2  
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome 1  
Seckel Syndrome 3 
Seckel syndrome 4  
Seemanova Lesny Syndrome 
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
selective pituitary thyroid hormone resistance  
Sener Syndrome 
sepiapterin reductase deficiency  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
severe congenital neutropenia 1  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 
Shaheen Syndrome  
Short Stature and Facioauriculothoracic Malformations 
Short Stature Syndrome, Brussels Type 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
Short Stature-Obesity Syndrome 
SHORT syndrome  
SHOX-related short stature  
Shprintzen Omphalocele Syndrome 
SIDDIQI SYNDROME  
SIFRIM-HITZ-WEISS SYNDROME  
Silver-Russell syndrome +   
Silver-Russell Syndrome 3  
Simosa Cranio Facial Syndrome 
Simpson-Golabi-Behmel syndrome type 1  
Singh Chhaparwal Dhanda Syndrome 
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Slavotinek Pike Mills Hurst Syndrome 
Smith-Kingsmore Syndrome  
Smith-Magenis syndrome +   
Snijders Blok-Campeau Syndrome  
snowflake vitreoretinal degeneration  
solitary median maxillary central incisor  
Sonoda Syndrome 
Sorsby's fundus dystrophy  
Sotos syndrome 1  
Sotos syndrome 2  
spastic ataxia +   
spastic ataxia 1  
spastic ataxia 7 
Spastic Diplegia Infantile Type 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spastic Paraplegia, Epilepsy, Mental Retardation 
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY  
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spastic Paresis, Glaucoma, and Mental Retardation 
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
Specific Learning Disorder 
speech-language disorder-1  
spermatogenic failure 10  
spermatogenic failure 11  
spermatogenic failure 12  
spermatogenic failure 2 
spermatogenic failure 3  
spermatogenic failure 32  
spermatogenic failure 36  
spermatogenic failure 4  
spermatogenic failure 8  
spinal muscular atrophy with lower extremity predominance +   
Spinal Muscular Atrophy with Mental Retardation 
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Spinocerebellar Ataxia with Dysmorphism 
Splenogonadal Fusion with Limb Defects and Micrognathia 
split hand-foot malformation 1  
split hand-foot malformation 4  
spondyloepimetaphyseal dysplasia with joint laxity type 2  
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
spondyloepiphyseal dysplasia Kimberley type  
spondyloepiphyseal dysplasia Maroteaux type  
spondyloepiphyseal dysplasia Nishimura type  
spondyloepiphyseal dysplasia Stanescu type  
spondyloepiphyseal dysplasia tarda with characteristic facies 
spondyloepiphyseal dysplasia tarda with intellectual disability 
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis  
spondylometaphyseal dysplasia corner fracture type  
spondylometaphyseal dysplasia Kozlowski type  
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Spondyloocular Syndrome, Autosomal Recessive  
spondyloperipheral dysplasia  
Stern Lubinsky Durrie Syndrome 
Stevenson-Carey Syndrome 
Stickler syndrome 1  
Stickler syndrome 2  
stiff skin syndrome  
STING-associated vasculopathy with onset in infancy  
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Stormorken syndrome  
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS  
Sucrosuria, Hiatus Hernia and Mental Retardation 
Supernumerary Der(22)t(8 
Sweeney-Cox syndrome  
syndactyly type 3  
syndactyly type 4  
syndactyly type 5  
syndactyly-telecanthus-anogenital and renal malformations syndrome  
syndromic intellectual disability +   
syndromic microphthalmia 3  
syndromic microphthalmia 5  
syndromic microphthalmia 6  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Turner type  
syndromic X-linked intellectual disorder Lujan-Fryns-type  
Synostosis of Talus and Calcaneus with Short Stature 
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
tarsal-carpal coalition syndrome +   
Tatton-Brown-Rahman Syndrome  
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temple-Baraitser syndrome  
temtamy preaxial brachydactyly syndrome  
Temtamy syndrome  
Tenorio Syndrome  
terminal osseous dysplasia  
Tetrasomy X 
Thakker Donnai Syndrome 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thiel-Behnke corneal dystrophy  
Thomas Jewett Raines Syndrome 
Thrombocytopenia Robin Sequence 
thrombocytopenia-absent radius syndrome  
thrombophilia due to activated protein C resistance  
thrombophilia due to HRG deficiency  
thrombophilia due to thrombin defect  
Thumb Agenesis, Short Stature, and Immunodeficiency 
tibial muscular dystrophy  
Tietz syndrome  
Timothy syndrome  
Tolchin-Le Caignec Syndrome  
Tollner Horst Manzke Syndrome 
Tonoki Syndrome 
torsion dystonia 1  
torsion dystonia 13 
torsion dystonia 4  
torsion dystonia 6  
torsion dystonia 7  
torsion dystonia with onset in infancy  
Townes-Brocks syndrome +   
transthyretin amyloidosis  
Treacher Collins syndrome +   
Trichodental Syndrome 
trichodontoosseous syndrome  
trichohepatoenteric syndrome +   
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
Tryptophanuria with Dwarfism 
Tsukahara Syndrome  
tuberous sclerosis +   
tubular aggregate myopathy 1  
tubular aggregate myopathy 2  
Turnpenny-Fry Syndrome  
type 1 diabetes mellitus 2  
Ullrich congenital muscular dystrophy +   
Ulnar Hypoplasia with Mental Retardation 
ulnar-mammary syndrome  
Upton Young Syndrome 
Urioste Martinez-Frias Syndrome 
urofacial syndrome +   
Uruguay faciocardiomusculoskeletal syndrome  
uveal coloboma-cleft lip and palate-intellectual disability  
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van Maldergem syndrome +   
variant ABeta2M amyloidosis 
vascular type Ehlers-Danlos syndrome +   
Vasquez Hurst Sotos Syndrome 
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Verheij Syndrome  
Verloes Gillerot Fryns Syndrome 
vertebral anomalies and variable endocrine and T-cell dysfunction  
Vertebral Body Fusion Overgrowth 
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
VISSERS-BODMER SYNDROME  
Vohwinkel syndrome  
Volcke Soekarman Syndrome 
Waardenburg's syndrome +   
WAGR syndrome +   
Waisman syndrome  
Walker Dyson Syndrome 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
warfarin sensitivity +   
Weaver syndrome  
Weill-Marchesani Syndrome 2  
WEISS-KRUSZKA SYNDROME  
Wellesley Carmen French Syndrome 
Weyers acrofacial dysostosis  
WHIM syndrome  
White Forelock with Malformations 
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Williams-Beuren syndrome +   
Winchester syndrome  
Winship Viljoen Leary Syndrome 
Winter Harding Hyde Syndrome 
Winter Shortland Temple Syndrome  
Wittwer Syndrome  
Wolf-Hirschhorn syndrome  
Woodhouse-Sakati syndrome  
Worster-Drought Syndrome  
Worth syndrome  
writing disorder +  
X-linked epilepsy with variable learning disabilities and behavior disorders  
X-linked mental retardation-hypotonic facies syndrome-1  
X-linked VACTERL association  
Y-linked spermatogenic failure 1 
Yorifuji Okuno Syndrome 
Young Hughes Syndrome 
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zerres Rietschel Majewski Syndrome 
Zimmerman Laband Syndrome +   
Zori Stalker Williams Syndrome 
ZTTK Syndrome  

Synonyms
Exact Synonyms: 17q11 microdeletion syndrome ;   MMFD ;   NF1 microdeletion syndrome ;   Van Asperen syndrome ;   chromosome 17q11.2 deletion syndrome, 1.4Mb ;   macrocephaly, macrosomia, and facial dysmorphism syndrome ;   macrocephaly, macrosomia, facial dysmorphism syndrome ;   neurofibromatosis type 1 microdeletion syndrome
Primary IDs: MESH:C563524
Alternate IDs: OMIM:613675 ;   OMIM:614192
Xrefs: ICD10CM:Q85.0 ;   ORDO:97685
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/10631140/ "DO" "DO"

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