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22q11 Deletion Syndrome +
3-methylglutaconic aciduria type 7a
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
Absent Eyebrows and Eyelashes with Mental Retardation
acrocardiofacial syndrome
acrofacial dysostosis Cincinnati type
acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Patagonia type
acrokeratosis verruciformis
acromelic frontonasal dysostosis
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
advanced sleep phase syndrome +
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
Al Gazali Aziz Salem Syndrome
alacrima, achalasia, and impaired intellectual development syndrome
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alopecia Contractures Dwarfism Mental Retardation
Alopecia Universalis, Onychodystrophy, Vitiligo
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
Alves Castelo dos Santos Syndrome
amelogenesis imperfecta type 1A
amelogenesis imperfecta type 1B
amelogenesis imperfecta type 3A
amelogenesis imperfecta type 3B
amelogenesis imperfecta type 4
Ameloonychohypohidrotic Syndrome
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation
Amyotrophic Dystonic Paraplegia
amyotrophic lateral sclerosis type 1
amyotrophic lateral sclerosis type 24
amyotrophic lateral sclerosis type 25
amyotrophic lateral sclerosis type 26
amyotrophic lateral sclerosis type 28
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
ankyrin-B-related cardiac arrhythmia
Annular Epidermolytic Ichthyosis +
Anonychia Onychodystrophy
Anonychia with Flexural Pigmentation
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
Ansell Bywaters Elderking Syndrome
anterior segment dysgenesis 1
antithrombin III deficiency
Antley-Bixler syndrome without disordered steroidogenesis
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
Aplasia Cutis Congenita of Limbs Recessive
Aplasia Cutis Congenita with Intestinal Lymphangiectasia
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
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 3
arrhythmogenic right ventricular dysplasia 4
arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 9
Arthrogryposis and Ectodermal Dysplasia
Arthrogryposis Multiplex Congenita Whistling Face
Arthrogryposis, Impaired Intellectual Development, 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
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
autoimmune interstitial lung, joint, and kidney disease
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 intellectual developmental disorder +
autosomal dominant isolated ectopia lentis 1
autosomal dominant keratitis +
autosomal dominant limb-girdle muscular dystrophy +
autosomal dominant macrothrombocytopenia TUBB1-related
autosomal dominant microcephaly +
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
autosomal dominant nocturnal frontal lobe epilepsy +
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 intellectual developmental disorder +
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
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Bainbridge-Ropers syndrome
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Baraitser-Winter syndrome 1
Baraitser-Winter syndrome 2
Basel-Vanagaite-Smirin-Yosef syndrome
Beare-Stevenson cutis gyrata syndrome
Beaulieu-Boycott-Innes Syndrome
Bellini Chiumello Rimoldi Syndrome
benign familial hematuria +
benign familial infantile seizures 1
benign familial infantile seizures 2
benign familial infantile seizures 3
benign familial infantile seizures 5
benign familial infantile seizures 6
Bifid Femur with Monodactylous Ectrodactyly
bilateral optic nerve hypoplasia
bilateral perisylvian polymicrogyria +
Blepharochalasis and Double Lip
blepharocheilodontic syndrome +
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
blepharophimosis-impaired intellectual development syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bothnian type palmoplantar keratoderma
Boudhina Yedes Khiari syndrome
brachycephaly, trichomegaly, and developmental delay
brachydactyly-syndactyly syndrome
Brachymesomelia Renal Syndrome
Brachymorphism-Onychodysplasia-Dysphalangism 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 +
bullous congenital ichthyosiform erythroderma
Bullous Dystrophy, Hereditary Macular Type
Buschke-Ollendorff syndrome
Camera Marugo Cohen Syndrome
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
Camptodactyly Syndrome Guadalajara Type +
Camptodactyly Syndrome Guadalajara Type 2
Camptodactyly Vertebral Fusion
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-Ichthyosis Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma
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
Carnevale Hernandez Castillo Syndrome
Carney-Stratakis syndrome
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly
cartilage-hair hypoplasia
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 3 multiple types
cataract 31 multiple types
cataract 32 multiple types
cataract 39 multiple types
cataract 4 multiple types +
cataract 5 multiple types
cataract 6 multiple types
cataract 8 multiple types
cataract 9 multiple types
Cataracts, Ataxia, Short Stature, and Mental Retardation
central conducting lymphatic anomaly
central precocious puberty 1
central precocious puberty 2
Cerebellar Ataxia and Ectodermal Dysplasia
cerebellar ataxia, mental retardation and dysequlibrium syndrome +
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebellofaciodental syndrome
cerebral cavernous malformation 2
cerebral cavernous malformation 3
Cerebral Visual Impairment and Intellectual Disability
cerebrocostomandibular syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita
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
childhood-onset GLUT1 deficiency syndrome 2
childhood-onset neurodegeneration with brain atrophy
Chitayat Meunier Hodgkinson Syndrome
Choroid Plexus Calcification with Mental Retardation
chromosome 13q14 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 16p11.2 deletion syndrome, 593-kb
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 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 1p36.33 duplication syndrome
chromosome 1q21.1 duplication syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 3q29 microdeletion syndrome
chromosome 5q12 deletion syndrome
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
chromosome 8q21.11 deletion syndrome
Chromosome Xq28 Duplication Syndrome
Chudley-Rozdilsky Syndrome
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
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 +
Cleidocranial Dysplasia 2
Cochlear Deafness with Myopia and Intellectual Impairment
cold-induced sweating syndrome +
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
combined oxidative phosphorylation deficiency 2
common variable immunodeficiency 10
common variable immunodeficiency 13
common variable immunodeficiency 14
common variable immunodeficiency 2
Complex Camptosynpolydactyly
complex cortical dysplasia with other brain malformations +
congenital adrenal insufficiency
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
congenital central hypoventilation syndrome +
congenital contractural arachnodactyly
CONGENITAL DISORDER OF DEGLYCOSYLATION 2
congenital dyserythropoietic anemia type IV
Congenital Ectodermal Dysplasia with Hearing Loss
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 AND ECTODERMAL DYSPLASIA
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
congenital limbs-face contractures-hypotonia-developmental delay syndrome
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 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
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
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
Cranioacrofacial Syndrome
craniodiaphyseal dysplasia +
cranioectodermal 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 dysmorphism, skeletal anomalies, and mental retardation syndrome +
Craniofacial Dyssynostosis
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
Craniosynostosis Mental Retardation Clefting Syndrome
Craniosynostosis, Adelaide Type
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation Syndrome
Crouzon syndrome-acanthosis nigricans syndrome
CST3-related cerebral amyloid angiopathy +
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies
Curatolo Cilio Pessagno Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome
Cutis Verticis Gyrata and Mental Deficiency
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality
D-2-hydroxyglutaric aciduria 2
Daneman Davy Mancer Syndrome
De Sanctis-Cacchione syndrome
Deafness with Anhidrotic Ectodermal Dysplasia
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Congenital Onychodystrophy, Recessive Form
deafness-dystonia-optic neuronopathy syndrome
dehydrated hereditary stomatocytosis 1
dehydrated hereditary stomatocytosis 2
dentinogenesis imperfecta +
Dermatoosteolysis Kirghizian Type
dermatopathia pigmentosa reticularis
developmental and epileptic encephalopathy 100
developmental and epileptic encephalopathy 103
developmental and epileptic encephalopathy 104
developmental and epileptic encephalopathy 108
developmental and epileptic encephalopathy 109
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 31A
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 64
developmental and epileptic encephalopathy 65
developmental and epileptic encephalopathy 66
developmental and epileptic encephalopathy 67
developmental and epileptic encephalopathy 69
developmental and epileptic encephalopathy 6B
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 and epileptic encephalopathy 96
developmental and epileptic encephalopathy 97
developmental and epileptic encephalopathy 98
developmental and epileptic encephalopathy 99
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
developmental dysplasia of the hip 1
developmental dysplasia of the hip 2
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 12
Diamond-Blackfan anemia 13
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
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
diffuse cystic renal dysplasia
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 1LL
dilated cardiomyopathy 1MM
dilated cardiomyopathy 1NN
dilated cardiomyopathy 1R
dilated cardiomyopathy 1S
dilated cardiomyopathy 1U
dilated cardiomyopathy 1V
dilated cardiomyopathy 1Y
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
diphthamide deficiency syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
distal arthrogryposis type 1 +
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 Tateyama type
distal myopathy with rimmed vacuoles
Distal Transverse Limb Defects with Mental Retardation and Spasticity
dominant optic atrophy plus syndrome
dominant pericentral pigmentary retinopathy
Double Nail for Fifth Toe
Doyne honeycomb retinal dystrophy
Duane-radial ray syndrome
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave
Duker Weiss Siber syndrome
Dwarfism Stiff Joint Ocular Abnormalities
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Dyggve-Melchior-Clausen disease +
Dyskinesias, Seizures, and Intellectual Developmental Disorder
Dysmyelination with Jaundice
dysplastic nevus syndrome
dystonia 28, childhood-onset
dystonia, DOPA-responsive
dystransthyretinemic hyperthyroxinemia
early-onset dystonia and/or spastic paraplegia
Ectodermal Dysplasia Adrenal Cyst
ectodermal dysplasia and immunodeficiency 2
Ectodermal Dysplasia and Neurosensory Deafness
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 with Natal Teeth, Turnpenny Type
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Ectodermal Dysplasia, Trichoodontoonychial Type
Ectodermal Dysplasia-Skin Fragility Syndrome
Ectodermal Dysplasia-Syndactyly Syndrome +
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ectrodactyly-Cleft Palate 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
Elliott Ludman Teebi Syndrome
Ellis-Van Creveld syndrome +
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
epidermolysis bullosa simplex generalized type +
epidermolysis bullosa simplex localized type +
epidermolysis bullosa simplex Ogna type
epidermolysis bullosa simplex with mottled pigmentation
epidermolytic hyperkeratosis 1
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
Episodic Kinesigenic Dyskinesia 3
epithelial basement membrane dystrophy
epithelial recurrent erosion dystrophy
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 2
erythrokeratodermia variabilis et progressiva 3
erythrokeratodermia variabilis et progressiva 6
Euhidrotic Ectodermal Dysplasia
Extensor Tendons of Fingers, Anomalous Insertion of
exudative vitreoretinopathy 1
exudative vitreoretinopathy 3
exudative vitreoretinopathy 5
exudative vitreoretinopathy 6
exudative vitreoretinopathy 7
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
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 1
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 focal epilepsy with variable foci +
familial gestational hyperthyroidism
familial hyperinsulinemic hypoglycemia 1
familial hyperinsulinemic hypoglycemia 2
familial hyperinsulinemic hypoglycemia 3
familial hyperinsulinemic hypoglycemia 5
familial hyperinsulinemic hypoglycemia 6
familial hyperinsulinemic hypoglycemia 7
familial hypocalciuric hypercalcemia +
familial juvenile hyperuricemic nephropathy +
familial male-limited precocious puberty
familial medullary thyroid carcinoma
familial multiple lipomatosis
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
Feingold Trainer Syndrome
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
fetal encasement syndrome
fibrodysplasia ossificans progressiva
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
Focal Epilepsy with Speech Disorder and with or without Mental Retardation
Focal Facial Dermal Dysplasia +
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
Freire-Maia Odontotrichomelic Syndrome
Frints De Smet Fabry Fryns Syndrome
Fronto-Facio-Nasal Dysplasia
frontometaphyseal dysplasia 2
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice Syndrome
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
giant axonal neuropathy 2
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
gnathodiaphyseal dysplasia
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Gorlin Bushkell Jensen Syndrome
Gorlin Chaudhry Moss 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 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 RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
Gurrieri Sammito Bellussi Syndrome
Hair Defect with Photosensitivity and Mental Retardation
Halal Setton Wang Syndrome
Hall Riggs Mental Retardation Syndrome
hand-foot-genital syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Hay Wells Syndrome Recessive Type
Heart-Hand Syndrome, Slovenian Type
Hengel-Maroofian-Schols syndrome
heparin cofactor II deficiency
hereditary breast ovarian cancer syndrome
hereditary diffuse gastric cancer
Hereditary Diffuse Leukoencephalopathy with Spheroids 2
hereditary hemorrhagic telangiectasia +
hereditary mixed polyposis syndrome 2
hereditary multiple exostoses +
hereditary neuropathy with liability to pressure palsies
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 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 72A
hereditary spastic paraplegia 73
hereditary spastic paraplegia 79A
hereditary spastic paraplegia 8
hereditary spastic paraplegia 80
hereditary spastic paraplegia 88
hereditary spastic paraplegia 90A
hereditary spastic paraplegia 90B
hereditary spastic paraplegia 9A
hereditary spherocytosis type 1
hereditary spherocytosis type 2
hereditary spherocytosis type 4
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
Hidrotic Ectodermal Dysplasia, Autosomal Recessive
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Hittner Hirsch Kreh Syndrome
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Hordnes Engebretsen Knudtson syndrome
Hoyeraal Hreidarsson Syndrome
Humeroradial Synostosis with Craniofacial Anomalies
hyper IgE recurrent infection syndrome 1
hyperalphalipoproteinemia 1
hyperferritinemia-cataract syndrome
Hyperleucine-Isoleucinemia
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria
hypermethioninemia due to adenosine kinase deficiency
hypertension and brachydactyly syndrome
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 +
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum
hypoinsulinemic hypoglycemia with hemihypertrophy
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +
hypomyelinating leukodystrophy 16
hypomyelinating leukodystrophy 19
hypomyelinating leukodystrophy 22
hypomyelinating leukodystrophy 24
hypomyelinating leukodystrophy 25
hypomyelinating leukodystrophy 6
hypoparathyroidism-retardation-dysmorphism syndrome
hypophosphatemic nephrolithiasis/osteoporosis 1
hypophosphatemic nephrolithiasis/osteoporosis 2
hypoplastic or aplastic tibia with polydactyly
Hypospadias-Mental Retardation Syndrome
hypotonia, ataxia, and delayed development syndrome
hypotonia-cystinuria syndrome
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Ichthyosis and Male Hypogonadism
Ichthyosis Cheek Eyebrow Syndrome
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 73a with defective neutrophil chemotaxis and leukocytosis
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
immunodeficiency-centromeric instability-facial anomalies syndrome +
inclusion body myopathy and brain white matter abnormalities
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 Multisystem Neurologic Disease with Osseous Fragility
infantile-onset distal myopathy
inflammatory bowel disease 21
inflammatory bowel disease 29
inflammatory bowel disease 3
inflammatory bowel disease 30
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
Intellectual Developmental Disorder with Autism and Dysmorphic Facies
Intellectual Developmental Disorder with Autism and Macrocephaly
Intellectual Developmental Disorder with Autism and Speech Delay
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 LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS
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 OR WITHOUT PERIPHERAL NEUROPATHY
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 SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
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 Developmental Disorder, Autosomal Dominant, FRA12A Type
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
intellectual disability-severe speech delay-mild dysmorphism syndrome
interstitial lung disease 1
interstitial lung disease 2
intracranial berry aneurysm 1
intracranial berry aneurysm 3
intrahepatic cholestasis of pregnancy 1
intrahepatic cholestasis of pregnancy 3
iridogoniodysgenesis syndrome +
ischiocoxopodopatellar syndrome
isolated elevated serum creatine phosphokinase levels
isolated microphthalmia 7
isolated mitochondrial myopathy
ITM2B-related cerebral amyloid angiopathy 1
ITM2B-related cerebral amyloid angiopathy 2
Jagell Holmgren Hofer Syndrome
Jansen's metaphyseal chondrodysplasia
Jequier Kozlowski Skeletal Dysplasia
Johanson-Blizzard syndrome
Jones Hersh Yusk Syndrome
junctional epidermolysis bullosa with pyloric atresia
juvenile amyotrophic lateral sclerosis type 27
juvenile polyposis syndrome +
Kaler Garrity Stern Syndrome
Karandikar Maria Kamble Syndrome
Katsantoni Papadakou Lagoyanni Syndrome
keratosis palmoplantaris striata 1
keratosis palmoplantaris striata 2
keratosis palmoplantaris striata 3
KOHLSCHUTTER-TONZ SYNDROME-LIKE
Koone Rizzo Elias Syndrome
Kozlowski Ouvrier Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski-Krajewska Syndrome
Kuzniecky Andermann Syndrome
lacrimoauriculodentodigital syndrome 1
lacrimoauriculodentodigital syndrome 2
lacrimoauriculodentodigital syndrome 3
Ladda Zonana Ramer Syndrome
Larsen-like syndrome B3GAT3 type
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
leucine-sensitive hypoglycemia of infancy
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
linear skin defects with multiple congenital anomalies 2
lissencephaly 9 with complex brainstem malformation
Lubani Al Saleh Teebi Syndrome
lymphedema-distichiasis syndrome +
Lynch Lee Murday syndrome
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
macrocephaly-autism syndrome
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Male Hypogonadism with Mental Retardation and Skeletal Anomalies
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Mammary-Digital-Nail Syndrome
Mandibuloacral Dysplasia Progeroid Syndrome
mandibuloacral dysplasia 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
maturity-onset diabetes of the young +
Maxillofacial Abnormalities +
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 with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability
melanoma and neural system tumor 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, Buenos Aires 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, Skeletal Dysplasia, and Abducens Palsy
Metaphyseal Acroscyphodysplasia
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Methionine Malabsorption Syndrome
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Deafness Syndrome
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly Sparse Hair Mental Retardation Seizures
Microcephaly with Cervical Spine Fusion Anomalies
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, Macrotia, and Mental Retardation
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
Mirhosseini-Holmes-Walton Syndrome
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
mitochondrial DNA depletion syndrome 12a
Miura type epiphyseal chondrodysplasia
Mollica Pavone Antener Syndrome
Mononen-Karnes-Senac syndrome
Morillo-Cucci Passarge Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Mullegama-Klein-Martinez syndrome
Muller Barth Menger Syndrome
Mullerian aplasia and hyperandrogenism
multicentric carpotarsal osteolysis syndrome
multiple benign circumferential skin creases on limbs +
multiple congenital anomalies-hypotonia-seizures syndrome 3
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 synostoses syndrome +
multiple types of congenital heart defects 6
Multisystem Autoimmune Disease with Facial Dysmorphism
muscular dystrophy-dystroglycanopathy type B1
muscular dystrophy-dystroglycanopathy type B14
muscular dystrophy-dystroglycanopathy type B2
muscular dystrophy-dystroglycanopathy type B3
muscular dystrophy-dystroglycanopathy type B6
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
myoclonic-atonic epilepsy
Myotonia with Skeletal Abnormalities and Mental Retardation
Nablus Mask-Like Facial Syndrome
Naegeli-Franceschetti-Jadassohn syndrome
NEMO Mutation with Immunodeficiency
nephrogenic diabetes insipidus type 2
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification
nephrotic syndrome type 4
Neurocutaneous Syndromes +
neurodegeneration with brain iron accumulation 3
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
neurodevelopmental disorder with involuntary movements
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
neurofibromatosis-Noonan syndrome
neurogenic scapuloperoneal syndrome Kaeser type
neurohypophyseal diabetes insipidus +
neuronal ceroid lipofuscinosis 4
neuronal intranuclear inclusion disease
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome 1
NF1 Microduplication Syndrome
Nicolaides-Baraitser syndrome
non-syndromic intellectual disability +
nonautoimmune hyperthyroidism
nonprogressive cerebellar ataxia with mental retardation
nonsyndromic aplasia cutis congenita
nonsyndromic congenital nail disorder +
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 with multiple lentigines +
oblique facial clefting 1
ocular albinism with sensorineural deafness
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
oculopharyngodistal myopathy 1
oculopharyngodistal myopathy 2
oculopharyngodistal myopathy 3
oculopharyngodistal myopathy 4
Odontomicronychial Dysplasia
Odontoonychodermal Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
Okur-Chung Neurodevelopmental Syndrome
Oliver-McFarlane syndrome
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
Onychotrichodysplasia and Neutropenia
Orbital Margin, Hypoplasia of
Oroacral Syndrome, Verloes-Koulischer Type
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
Osteolysis Syndrome, Recessive
Otofacioosseous-Gonadal Syndrome
Otoonychoperoneal Syndrome
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal dominant
overhydrated hereditary stomatocytosis
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
Paget's disease of bone 2
Paget's disease of bone 3
Paget's disease of bone 4
Paget's disease of bone 6
Palant Cleft Palate Syndrome
Pallister-Hall syndrome +
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Papillon-Lefevre disease +
paramyotonia congenita of Von Eulenburg
paroxysmal extreme pain disorder
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
paroxysmal nonkinesigenic dyskinesia 3
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Patella Hypoplasia Mental Retardation
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
Pavone Fiumara Rizzo Syndrome
permanent neonatal diabetes mellitus +
Perniola Krajewska Carnevale Syndrome
Peroxisome biogenesis disorder 4B
Pfeiffer Kapferer Syndrome
Pfeiffer Tietze Welte Syndrome
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
photosensitive trichothiodystrophy 1
pigmented paravenous chorioretinal atrophy
Pili Torti Onychodysplasia
Pinheiro Freire-Maia Miranda Syndrome
Piussan Lenaerts Mathieu syndrome
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
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
polycystic liver disease +
popliteal pterygium syndrome +
Postaxial Polydactyly, with Dental and Vertebral Anomalies
posterior amorphous corneal dystrophy
Posterior Exchondrosis of Pinna
posterior polymorphous corneal dystrophy 1
posterior polymorphous corneal dystrophy 2
posterior polymorphous corneal dystrophy 4
Preauricular Fistulae, Congenital
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
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
proteosome-associated autoinflammatory syndrome 2
prothrombin thrombophilia
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
Pseudoaminopterin Syndrome
Pseudotrisomy 13 Syndrome
Pseudouridinuria and Mental Defect
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
pulmonary venoocclusive disease 1
punctate palmoplantar keratoderma type II
punctate palmoplantar keratoderma type III
pure hair and nail ectodermal dysplasia +
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Radioulnar Synostosis Retinal Pigment Abnormalities
Ramos Arroyo Clark Syndrome
Reardon Hall Slaney syndrome
Reardon Wilson Cavanagh Syndrome
retinal arterial tortuosity
retinal macular dystrophy +
retinal vasculopathy with cerebral leukodystrophy
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
retinitis pigmentosa-deafness syndrome
Rhizomelic Dysplasia Patterson Lowry Type
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Ritscher-Schinzel syndrome +
Ritscher-Schinzel syndrome 2
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Robinson Miller Bensimon Syndrome
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant
Rommen Mueller Sybert Syndrome
Rosselli-Gulienetti Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Ruzicka Goerz Anton syndrome
Sammartino De Crecchio Syndrome
Sanderson Fraser Syndrome
Sao Paulo MCA/MR Syndrome
SATB2-associated syndrome
Say Field Coldwell Syndrome
scalp-ear-nipple syndrome
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development
scapuloperoneal spinal muscular atrophy
Schaefer Stein Oshman Syndrome
Schinzel Giedion syndrome An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. (DO)
Schnyder corneal dystrophy
Schofer Beetz Bohl 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
Seckel Like Syndrome Type Buebel
Second Metatarsal-Metacarpal Syndrome
selective pituitary thyroid hormone resistance
sepiapterin reductase deficiency
Seres-Santamaria Arimany Muniz Syndrome
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
Short Stature and Facioauriculothoracic Malformations
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
Silver-Russell syndrome +
Simosa Cranio Facial Syndrome
Simpson-Golabi-Behmel syndrome type 1
Singh Chhaparwal Dhanda Syndrome
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Sketetal Dysplasia Coarse Facies Mental Retardation
Snijders Blok-Campeau Syndrome
snowflake vitreoretinal degeneration
solitary median maxillary central incisor
Sorsby's fundus dystrophy
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
speech-language disorder-1
Spinal Muscular Atrophy with Mental Retardation
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
spinal muscular atrophy with predominant lower extremity +
spinal muscular atrophy, Jokela type
Splenogonadal Fusion with Limb Defects and Micrognathia
Split Hand, Split Foot, Nystagmus
split hand-foot malformation 1
split hand-foot malformation 1 with sensorineural hearing loss
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, 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 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
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Steatocystoma Multiplex with Natal Teeth
STING-associated vasculopathy with onset in infancy
Stoll Alembik Dott Syndrome
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
Sucrosuria, Hiatus Hernia and Mental Retardation
Supernumerary Der(22)t(8;22) Syndrome
Symphalangism with Multiple Anomalies of Hands and Feet
Symphalangism, C. S. Lewis Type
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 disorder Lujan-Fryns-type
Takenouchi-Kosaki Syndrome
tarsal-carpal coalition syndrome +
Tatton-Brown-Rahman syndrome
Taurodontia, Absent Teeth, Sparse Hair
Teebi hypertelorism syndrome +
Teebi hypertelorism syndrome 1
Tel Hashomer Camptodactyly Syndrome
Temple-Baraitser syndrome
temtamy preaxial brachydactyly syndrome
terminal osseous dysplasia
Tessadori-van Haaften Neurodevelopmental Syndrome 2
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
THAUVIN-ROBINET-FAIVRE SYNDROME
Thiel-Behnke corneal dystrophy
thrombophilia due to activated protein C resistance
thrombophilia due to HRG deficiency
thrombophilia due to thrombin defect
tibial muscular dystrophy
Tolchin-Le Caignec Syndrome
Tollner Horst Manzke Syndrome
torsion dystonia with onset in infancy
Total Anonychia with Microcephaly
transthyretin amyloidosis
Treacher Collins syndrome +
trichodontoosseous syndrome
Trichoodontoonychial Dysplasia
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Trueb Burg Bottani Syndrome
Tryptophanuria with Dwarfism
tubular aggregate myopathy 1
tubular aggregate myopathy 2
type 1 diabetes mellitus 2
Ullrich congenital muscular dystrophy +
Ulnar Hypoplasia with Mental Retardation
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Urioste Martinez-Frias Syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Van Bogaert-Hozay Syndrome
variant ABeta2M amyloidosis
vascular type Ehlers-Danlos syndrome +
Vasquez Hurst Sotos Syndrome
Ventricular Extrasystoles Perodactyly Robin Sequence
Verloes Gillerot Fryns Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
Vertebral Body Fusion Overgrowth
vertebral hypersegmentation and orofacial anomalies
Viljoen Kallis Voges Syndrome
Volcke Soekarman Syndrome
Walbaum Titran Durieux Crepin Syndrome
Warburton Anyane Yeboa Syndrome
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Wiedemann-Steiner syndrome
Williams-Beuren syndrome +
Winship Viljoen Leary Syndrome
Winter Shortland Temple Syndrome
Woodhouse-Sakati syndrome
X-Linked Intellectual Developmental Disorders +
Yoon-Bellen neurodevelopmental syndrome
Zazam Sheriff Phillips Syndrome
Zerres Rietschel Majewski Syndrome
Zimmerman Laband Syndrome +
Zori Stalker Williams Syndrome
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