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16p11.2 Deletion Syndrome
16Q24.3 Microdeletion Syndrome
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Abderhalden-Kaufmann-Lignac Syndrome
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
Acromegaloid Facial Appearance Syndrome
Acrorenal Mandibular Syndrome
Acute Retroviral Syndrome
Adducted Thumbs Syndrome +
adult respiratory distress syndrome
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Aicardi-Goutieres syndrome +
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
Al Gazali Hirschsprung Syndrome
Al Gazali Khidr Prem Chandran Syndrome
Al Gazali Sabrinathan Nair Syndrome
Alacrima, Achalasia, and Mental Retardation Syndrome
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Albinism Deafness Syndrome
Alice in Wonderland Syndrome
Alkuraya-Kucinskas syndrome
Allan-Herndon-Dudley syndrome
Allanson Pantzar McLeod Syndrome +
Aloi Tomasini Isaia Syndrome
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
alpha thalassemia-X-linked intellectual disability syndrome
Alpha-B Crystallinopathy with Cataract
Alves Castelo dos Santos Syndrome
Ameloonychohypohidrotic Syndrome
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation
Amyotrophic Dystonic Paraplegia
androgen insensitivity syndrome +
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Anophthalmia Plus Syndrome
Ansell Bywaters Elderking Syndrome
anterior spinal artery syndrome
antiphospholipid syndrome +
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
aplasia of lacrimal and salivary glands
apparent mineralocorticoid excess syndrome
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation
Arnold Stickler Bourne Syndrome
Arroyo Garcia Cimadevilla Syndrome
arterial tortuosity syndrome
Arthrogryposis, Mental Retardation, and Seizures
asphyxiating thoracic dystrophy +
Asrar Facharzt Haque Syndrome
Asymmetric Short Stature Syndrome
ataxia with oculomotor apraxia type 1
ataxia with oculomotor apraxia type 2
ataxia with oculomotor apraxia type 3
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
Ataxia-Microcephaly-Cataract Syndrome
atrophic muscular disease +
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
Auriculocondylar Syndrome +
Ausems Wittebol-Post Hennekam Syndrome
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant mental retardation 50
autosomal recessive cutis laxa type III +
autosomal recessive limb-girdle muscular dystrophy type 2P
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract
autosomal recessive spinocerebellar ataxia 10
autosomal recessive spinocerebellar ataxia 11
autosomal recessive spinocerebellar ataxia 12
autosomal recessive spinocerebellar ataxia 13
autosomal recessive spinocerebellar ataxia 14
autosomal recessive spinocerebellar ataxia 15
autosomal recessive spinocerebellar ataxia 16
autosomal recessive spinocerebellar ataxia 17
autosomal recessive spinocerebellar ataxia 18
autosomal recessive spinocerebellar ataxia 19
autosomal recessive spinocerebellar ataxia 2
autosomal recessive spinocerebellar ataxia 20
autosomal recessive spinocerebellar ataxia 21
autosomal recessive spinocerebellar ataxia 22
autosomal recessive spinocerebellar ataxia 23
autosomal recessive spinocerebellar ataxia 24
autosomal recessive spinocerebellar ataxia 25
autosomal recessive spinocerebellar ataxia 26
autosomal recessive spinocerebellar ataxia 27
Autosomal Recessive Spinocerebellar Ataxia 28
autosomal recessive spinocerebellar ataxia 3
autosomal recessive spinocerebellar ataxia 4
autosomal recessive spinocerebellar ataxia 6
autosomal recessive spinocerebellar ataxia 7
autosomal recessive spinocerebellar ataxia 8
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy +
Axenfeld-Rieger syndrome +
Axial Myopathy, Late-Onset +
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Bagatelle Cassidy syndrome
Bainbridge-Ropers Syndrome
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
basilar artery insufficiency +
Bazex-Dupre-Christol Syndrome
Bazopoulou Kyrkanidou Syndrome
Beare-Stevenson cutis gyrata syndrome
Beaulieu-Boycott-Innes Syndrome
Beckwith-Wiedemann syndrome +
Beemer Ertbruggen Syndrome
Behrens Baumann Dust Syndrome
Bellini Chiumello Rimoldi Syndrome
Ben Ari Shuper Mimouni Syndrome
Bent Bone Dysplasia Syndrome
Bernard-Soulier syndrome +
Bhaskar Jagannathan Syndrome
Birk-Landau-Perez Syndrome
blepharocheilodontic syndrome +
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Blue Rubber Bleb Nevus Syndrome
Bobble-Head Doll Syndrome
Borjeson-Forssman-Lehmann syndrome
Bork Stender Schmidt Syndrome
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Boucher-Neuhauser syndrome
Boudhina Yedes Khiari syndrome
Boylan Dew Greco Syndrome
brachial plexus neuritis +
Brachycephaly, Trichomegaly, and Developmental Delay
brachydactyly-syndactyly syndrome
Brachymesomelia Renal Syndrome
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
brachyolmia-amelogenesis imperfecta syndrome
Brain-Lung-Thyroid Syndrome
branched-chain keto acid dehydrogenase kinase deficiency
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Brown-Vialetto-Van Laere syndrome +
Bullous Dystrophy, Hereditary Macular Type
Burnett Schwartz Berberian Syndrome
Buschke-Ollendorff syndrome
Camera Marugo Cohen Syndrome
Camptodactyly Syndrome Guadalajara Type +
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-Ichthyosis Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
capillary leak syndrome +
Cardiac-Urogenital Syndrome
Cardiofacioneurodevelopmental Syndrome
Cardiomyopathy Hypogonadism Collagenoma Syndrome
Carey-Fineman-Ziter syndrome
Carnevale Hernandez Castillo Syndrome
Carney-Stratakis syndrome
Cartilage Hair Hypoplasia Like Syndrome
Cartwright Nelson Fryns Syndrome
cataract 1 multiple types
cataract 10 multiple types
cataract 11 multiple types +
cataract 12 multiple types
cataract 13 with adult i phenotype
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 17 multiple types
cataract 19 multiple types
cataract 2 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 22 multiple types
cataract 26 multiple types
cataract 3 multiple types
cataract 31 multiple types
cataract 32 multiple types
cataract 34 multiple types
cataract 39 multiple types
cataract 4 multiple types +
cataract 46 juvenile-onset
cataract 5 multiple types
cataract 6 multiple types
cataract 8 multiple types
cataract 9 multiple types
Cataract and Congenital Ichthyosis
Cataract Microcornea Syndrome
Cataract, Age-Related Nuclear
Cataract, Autosomal Dominant Nuclear
Cataract, Autosomal Recessive Congenital 1
Cataract, Congenital Dominant Non Nuclear
Cataract, Cortical Pulverulent, Late-Onset
Cataract, Crystalline Coralliform
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cataract, Polymorphic and Lamellar
Cataract, Posterior Polar, 5
Cataract, Progressive Polymorphic Cortical
Cataract, Sutural, with Punctate and Cerulean Opacities
Cataract, Variable Zonular Pulverulent
Cataract, Zonular Central Nuclear
Cataracts, Ataxia, Short Stature, and Mental Retardation
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cayler Cardiofacial Syndrome
Cayman type cerebellar ataxia
cerebellar ataxia, mental retardation and dysequlibrium syndrome +
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
Cerebellofaciodental Syndrome
cerebral cavernous malformation 2
cerebral cavernous malformation 3
cerebral creatine deficiency syndrome +
Cerebral Visual Impairment and Intellectual Disability
cerebrocostomandibular syndrome
Cerebrofaciothoracic Dysplasia
Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 4
Cerebrooculonasal Syndrome
Chang Davidson Carlson Syndrome
Charlevoix-Saguenay spastic ataxia
Chemke Oliver Mallek Syndrome
Chitayat Meunier Hodgkinson Syndrome
Chitayat Moore Del Bigio Syndrome
Chitty Hall Baraitser Syndrome
Chitty Hall Webb Syndrome
chondrodysplasia punctata +
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
chondrodysplasia-pseudohermaphroditism syndrome
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Choroid Plexus Calcification with Mental Retardation
chromosomal deletion syndrome +
chromosomal duplication syndrome +
Chromosome 13q Deletion Syndrome +
chromosome 13q14 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 1q21.1 duplication syndrome
CHROMOSOME 2p16.3 DELETION SYNDROME
chromosome 2q31.2 deletion syndrome
Chromosome 3 Duplication Syndrome
chromosome 3q29 microdeletion syndrome
Chromosome 4, 4q Terminal Deletion Syndrome
Chromosome 6 Ring Syndrome
Chromosome 7 Ring Syndrome
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
chromosome 8q21.11 deletion syndrome
Chromosome Xp11.3 Deletion Syndrome
Chromosome Xq Duplication Syndrome
Chromosome Xq28 Duplication Syndrome
chronic atrial and intestinal dysrhythmia
Chudley-Mccullough syndrome
Chudley-Rozdilsky Syndrome
Circumvallate Placenta Syndrome
cleft lip-palate-ectodermal dysplasia syndrome
cleft palate, cardiac defects, and intellectual disabillity
cleft palate-lateral synechia syndrome
Cleidorhizomelic Syndrome
Cochlear Deafness with Myopia and Intellectual Impairment
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
cold-induced sweating syndrome +
Cole-Carpenter syndrome +
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome +
complex regional pain syndrome +
Congenital Bone Marrow Failure Syndromes +
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Cataracts, Hearing Loss, and Neurodegeneration
congenital central hypoventilation syndrome
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation
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 Infantile Muscular Dystrophy with Cataract and Hypogonadism
congenital leptin deficiency
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
Congenital Muscular Dystrophy plus Mental Retardation
congenital muscular dystrophy with cataracts and intellectual disability
Congenital Myopathy with Neuropathy and Deafness
Congenital Pain Insensitivity +
Congenital Symmetric Circumferential Skin Creases +
Cornea Guttata with Anterior Polar Cataract
Corneal Cerebellar Syndrome
corneal dystrophy-perceptive deafness syndrome
Cornelia de Lange syndrome +
Corneodermatoosseous Syndrome
Coronary-Subclavian Steal Syndrome
corpus callosum agenesis-abnormal genitalia syndrome
Cortical Blindness, Retardation, and Postaxial Polydactyly
Cranioacrofacial Syndrome
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
Craniomandibular Disorders +
Craniomicromelic Syndrome
Craniosynostosis Mental Retardation Clefting Syndrome
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation Syndrome
crescentic glomerulonephritis
Crigler-Najjar syndrome +
Crouzon syndrome-acanthosis nigricans syndrome
Cryopyrin-Associated Periodic Syndromes +
Cryptomicrotia Brachydactyly Syndrome
Cubitus Valgus with Mental Retardation and Unusual Facies
Curatolo Cilio Pessagno Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome
Cutis Laxa-Marfanoid Syndrome
Cutis Verticis Gyrata and Mental Deficiency
Cyprus Facial Neuromusculoskeletal Syndrome
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality
Daentl Towsend Siegel Syndrome
Dahlberg Borer Newcomer Syndrome
Daish Hardman Lamont Syndrome
Daneman Davy Mancer Syndrome
Davenport Donlan Syndrome
De Hauwere Leroy Adriaenssens syndrome
De Sanctis-Cacchione syndrome
Deafness Oligodontia Syndrome
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Deafness, Congenital Onychodystrophy, Recessive Form
deafness, dystonia, and cerebral hypomyelination
Deafness, with Smith-Magenis Syndrome
Deafness-Craniofacial Syndrome
deafness-dystonia-optic neuronopathy syndrome
Deafness-Hypogonadism Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Deal Barratt Dillon Syndrome
Dennis Fairhurst Moore Syndrome
Der Kaloustian Mcintosh Silver Syndrome
Dermal Ridges, Nelson Syndrome
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
Dianzani Autoimmune Lymphoproliferative Syndrome
Diarrhea prodrome + Hemolytic-Uremic Syndrome
dicarboxylic aminoaciduria
diffuse infiltrative lymphocytosis syndrome
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Dincsoy Salih Patel Syndrome
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
distal arthrogryposis type 7
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies
Distal Transverse Limb Defects with Mental Retardation and Spasticity
Distal Trisomy 10q Syndrome
dominant optic atrophy plus syndrome
Drachtman Weinblatt Sitarz Syndrome
Drug Hypersensitivity Syndrome
Duane retraction syndrome +
Duane-radial ray 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 +
Dykes Markes Harper Syndrome
Dyskinesias, Seizures, and Intellectual Developmental Disorder
Dysmyelination with Jaundice
dysplastic nevus syndrome +
early infantile epileptic encephalopathy 9
Early-Onset Myopathy with Fatal Cardiomyopathy
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Ectodermal Dysplasia-Skin Fragility Syndrome
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly-Cleft Palate Syndrome
Edinburgh Malformation Syndrome
Ehlers-Danlos syndrome kyphoscoliotic type 2
electroclinical syndrome +
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Ellis-Van Creveld syndrome +
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
encephalopathy due to defective mitochondrial and peroxisomal fission 1
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
endocrine-cerebro-osteodysplasia syndrome
eosinophilia-myalgia syndrome
epidermolysis bullosa simplex with muscular dystrophy
Epilepsy, Hearing Loss, and Mental Retardation Syndrome
Erythrocyte Amp Deaminase Deficiency
Erythrocyte Lactate Transporter Defect
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Facio Thoraco Genital Syndrome
Faciocardiomelic Syndrome
Faciocardiorenal Syndrome
Failed Back Surgery Syndrome
Fallot Complex with Severe Mental and Growth Retardation
Familial Antiphospholipid Syndrome
Familial Convulsive Disorder with Prenatal or Early Onset
Familial Cyclic Vomiting Syndrome
Familial Hyperchylomicronemia Syndrome
familial periodic paralysis +
Fara Chlupackova Syndrome
Faye-Petersen Ward Carey Syndrome
Feigenbaum Bergeron Richardson Syndrome
Feingold Trainer Syndrome
Feline Acquired Immunodeficiency Syndrome
Female Athlete Triad Syndrome
Femur Fibula Ulna Syndrome
fetal akinesia deformation sequence syndrome +
fetal encasement syndrome
Fetal Inflammatory Response Syndrome
Fetal Trimethadione Syndrome
fibrogenesis imperfecta ossium
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Fingerprint Body Myopathy
Fitz-Hugh-Curtis Syndrome
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-Guilbert Syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
focal dermal hypoplasia +
Focal Epilepsy with Speech Disorder and with or without Mental Retardation
Foix Chavany Marie Syndrome
Forney Robinson Pascoe Syndrome
Forsythe-Wakeling Syndrome
Fowler Christmas Chapple Syndrome
Franceschini Vardeu Guala syndrome
Fraser Jequier Chen Syndrome
Freeman-Sheldon syndrome +
Freire-Maia Odontotrichomelic Syndrome
Fried Goldberg Mundel Syndrome
Frints De Smet Fabry Fryns Syndrome
Fryns Hofkens Fabry Syndrome
Fuchs' heterochromic uveitis
Furukawa Takagi Nakao Syndrome
GABRIELE-DE VRIES SYNDROME
Galloway-Mowat syndrome +
Game Friedman Paradice Syndrome
Gamstorp-Wohlfart syndrome
Gardner Morrisson Abbot Syndrome
Gay Feinmesser Cohen Syndrome
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Genito Palato Cardiac Syndrome
geroderma osteodysplasticum
Ghose Sachdev Kumar Syndrome
Gilles de la Tourette syndrome +
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
GLUT1 Deficiency Syndrome
Glycosylphosphatidylinositol Biosynthesis Defect 16
Goldberg-Shprintzen syndrome
Goldblatt Viljoen Syndrome
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Gorlin Bushkell Jensen Syndrome
Gorlin Chaudhry Moss Syndrome
Graham Boyle Troxell Syndrome
Green Sandford Davison Syndrome
Greig cephalopolysyndactyly syndrome
Groll Hirschowitz Syndrome
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 with Immune Dysregulation +
Growth Mental Deficiency Syndrome of Myhre
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Grubben de Cock Borghgraef Syndrome
Guillain-Barre syndrome +
Gurrieri Sammito Bellussi Syndrome
Hagemoser Weinstein Bresnick Syndrome
Hair Defect with Photosensitivity and Mental Retardation
Halal Setton Wang Syndrome
Hall Riggs Mental Retardation Syndrome
Hallermann-Streiff syndrome +
Hamanishi Ueba Tsuji Syndrome
Hamano Tsukamoto Syndrome
Hand-Arm Vibration Syndrome
hand-foot-genital syndrome
Hantavirus hemorrhagic fever with renal syndrome +
hantavirus pulmonary syndrome
Hapnes Boman Skeie Syndrome
Harrod Doman Keele Syndrome
Hashimoto-Pritzker Syndrome
Haspeslagh Fryns Muelenaere Syndrome
HEART AND BRAIN MALFORMATION SYNDROME
hemolytic-uremic syndrome +
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
Hemorrhagic Shock and Encephalopathy Syndrome
hereditary alpha tryptasemia syndrome
hereditary arterial and articular multiple calcification syndrome +
hereditary breast ovarian cancer syndrome
hereditary desmoid disease
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
hereditary fructose intolerance syndrome
Hereditary Neoplastic Syndromes +
Hereditary Paraganglioma-Pheochromocytoma Syndromes
hereditary spastic paraplegia 11
hereditary spastic paraplegia 14
hereditary spastic paraplegia 18
hereditary spastic paraplegia 32
hereditary spastic paraplegia 9A
Hernandez Aguirre-Negrete Syndrome
Hernandez Fragoso Syndrome
Hersh Podruch Weisskopk Syndrome
High Myopia with Cataract and Vitreoretinal Degeneration
high myopia-sensorineural deafness syndrome
high pressure neurological syndrome
histiocytosis-lymphadenopathy plus syndrome
Hittner Hirsch Kreh Syndrome
HIV-Associated Lipodystrophy Syndrome
Ho Kaufman Mcalister Syndrome
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Holzgreve-Wagner-Rehder syndrome
Homozygous 11p15-p14 Deletion Syndrome
Hordnes Engebretsen Knudtson syndrome
Hoyeraal Hreidarsson Syndrome
Humeroradial Multiple Synostosis Syndrome
Hunter Carpenter Macdonald Syndrome
Hunter-Macdonald Syndrome
Huntington's Disease-Like Syndrome
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
hypereosinophilic syndrome +
hyperferritinemia-cataract syndrome
Hyperimmunoglobulin G1(A1) Syndrome
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperleucine-Isoleucinemia
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria
hypermethioninemia due to adenosine kinase deficiency
Hyperphosphatasia with Mental Retardation +
hypertelorism, microtia, facial clefting syndrome
hypertension and brachydactyly syndrome
Hypertrophia Musculorum Vera
Hypertrophic Neuropathy and Cataract
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
hypogonadotropic hypogonadism 23 with or without anosmia
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum
Hypomagnesemia, Seizures, and Mental Retardation +
hypomyelinating leukodystrophy 5
hypoparathyroidism-retardation-dysmorphism syndrome
hypoplastic left heart syndrome +
hypoplastic or aplastic tibia with polydactyly
Hypospadias-Mental Retardation Syndrome
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
hypotonia-cystinuria syndrome
hypotrichosis-lymphedema-telangiectasia syndrome +
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
Ichthyosis and Male Hypogonadism
Ichthyosis Cheek Eyebrow Syndrome
ichthyosis follicularis-alopecia-photophobia syndrome 1
Ichthyosis Prematurity 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
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Immune Reconstitution Inflammatory Syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome +
inappropriate ADH syndrome +
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
Incomplete Sertoli Cell-Only Syndrome
Indolylacroyl Glycinuria with Mental Retardation
infancy electroclinical syndrome +
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 liver failure syndrome +
Infantile Multisystem Neurologic Disease with Osseous Fragility
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, 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
Internal Anal Sphincter Myopathy
Iridocorneal Endothelial Syndrome +
iridogoniodysgenesis syndrome +
Islet Cell Tumor Syndrome
Isodicentric Chromosome 15 Syndrome
Isolated Microphthalmia with Cataract 1
Isolated Microphthalmia with Cataract 2
Isolated Microphthalmia with Cataract 3
Isolated Microphthalmia with Cataract 4
Isotretinoin Embryopathy Like Syndrome
ITM2B-related cerebral amyloid angiopathy 2
Jagell Holmgren Hofer Syndrome
Johanson-Blizzard syndrome
Johnston Aarons Schelley Syndrome
Jones Hersh Yusk Syndrome
Judge Misch Wright Syndrome
Jung Wolff Back Stahl Syndrome
juvenile polyposis syndrome +
Kahn-Kahn-Katsanis Syndrome
Kaler Garrity Stern Syndrome
Kantaputra Gorlin Syndrome
Kaplan Plauchu Fitch Syndrome
Kaplowitz Bodurtha syndrome
Karandikar Maria Kamble Syndrome
Kasabach-Merritt Syndrome +
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Katsantoni Papadakou Lagoyanni Syndrome
Kaufman oculocerebrofacial syndrome
Kennerknecht Sorgo Oberhoffer Syndrome
Kennerknecht Vogel Syndrome
Keratitis-Ichthyosis-Deafness Syndrome +
Kleeblattschaedel Syndrome
Klippel-Trenaunay syndrome +
Kocher-Debre-Semelaigne Syndrome
Kohlschutter-Tonz syndrome
Konigsmark Knox Hussels Syndrome
Koone Rizzo Elias Syndrome
Kosaki Overgrowth Syndrome
Kousseff Nichols Syndrome
Kozlowski Brown Hardwick Syndrome
Kozlowski Ouvrier Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Tsuruta Taki Syndrome
Kozlowski Warren Fisher Syndrome
Kozlowski-Krajewska Syndrome
Krauss Herman Holmes Syndrome
Kuster Majewski Hammerstein Syndrome
Kuzniecky Andermann Syndrome
Lachiewicz Sibley Syndrome
Ladda Zonana Ramer syndrome
Laplane Fontaine Lagardere Syndrome
Laryngo Onycho Cutaneous Syndrome
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation
lateral medullary syndrome +
lateral meningocele syndrome
Laurence Prosser Rocker Syndrome
Le Marec Bracq Picaud Syndrome
Leg, Absence Deformity of, with Congenital Cataract
Leichtman Wood Rohn Syndrome
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome +
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
Light Fixation Seizure Syndrome
Lipodystrophy with Congenital Cataracts and Neurodegeneration
loose anagen hair syndrome +
Lopes-Maciel-Rodan Syndrome
Lubani Al Saleh Teebi Syndrome
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
Lutz Richner Landolt Syndrome
lymphedema-distichiasis syndrome +
Lynch Lee Murday syndrome
Lysine Malabsorption Syndrome
Maccario Mena Weir Syndrome
MacDermot Winter Syndrome
MacKay Shek Carr Syndrome
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
macrocephaly-autism syndrome
Macrophage Activation Syndrome
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Malabsorption Syndromes +
Male Hypogonadism with Mental Retardation and Skeletal Anomalies
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Malignant Carcinoid Syndrome +
Mammary-Digital-Nail Syndrome
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
mandibulofacial dysostosis with alopecia
Mandibulofacial Dysostosis with Mental Deficiency
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Hypermobility Syndrome
Marfanoid Mental Retardation Syndrome, Autosomal
Marinesco-Sjogren syndrome A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. (DO)
Marles Greenberg Persaud Syndrome
Maroteaux Fonfria Syndrome
Martinez Monasterio Pinheiro Syndrome
Massa Casaer Ceulemans Syndrome
Maternally Inherited Leigh Syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome +
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
McPherson Robertson Cammarano Syndrome
Meacham Winn Culler Syndrome
Meckel-Like Cerebrorenodigital Syndrome
meconium aspiration syndrome
MECP2 duplication syndrome
Medial Medullary Syndrome
Medial Tibial Stress Syndrome
median arcuate ligament syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
megalencephalic leukoencephalopathy with subcortical cysts 2B
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +
Mehta Lewis Patton Syndrome
melanoma and neural system tumor syndrome
Melanoma-Pancreatic Cancer Syndrome
Melkersson-Rosenthal syndrome
Mengel Konigsmark 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 +
Merlob Grunebaum Reisner Syndrome
MERRF/MELAS Overlap Syndrome
Mesomelia-Synostoses Syndrome
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
Methionine Malabsorption Syndrome
Meyenburg-Altherr-Uehlinger Syndrome
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly and Chorioretinopathy +
Microcephaly Cervical Spine Fusion Anomalies
Microcephaly Deafness Syndrome
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly Sparse Hair Mental Retardation Seizures
Microcephaly with Mental Retardation and Digital Anomalies
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
Microcephaly, Epilepsy, and Diabetes Syndrome
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Macrotia, and Mental Retardation
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
Microcephaly-Capillary Malformation Syndrome
Microcephaly-Micromelia Syndrome
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1
Microphthalmia and Mental Deficiency
Microphthalmia, Cataracts, and Iris Abnormalities
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Miles-Carpenter syndrome +
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
mitochondrial DNA depletion syndrome 7
mitochondrial DNA depletion syndrome 8A
Mitochondrial DNA Depletion Syndrome, Myopathic Form +
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
mixed connective tissue disease
Mollica Pavone Antener Syndrome
Mononen-Karnes-Senac syndrome
Morillo-Cucci Passarge Syndrome
mosaic variegated aneuploidy syndrome +
Mousa Al din Al Nassar Syndrome
Mucopolysaccharidosis-Plus Syndrome
Mulchandani-Bhoj-Conlin syndrome
Muller Barth Menger Syndrome
multicentric carpotarsal osteolysis syndrome
multicentric reticulohistiocytosis
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple chemical sensitivity
multiple congenital anomalies-hypotonia-seizures syndrome +
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
multiple epiphyseal dysplasia with myopia and deafness
multiple mitochondrial dysfunctions syndrome +
multiple pterygium syndrome +
multiple synostoses syndrome +
multiple system atrophy +
Multisystemic Smooth Muscle Dysfunction Syndrome
Murine Acquired Immunodeficiency Syndrome
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
Muscular Hypoplasia, Congenital Universal, of Krabbe
myelodysplastic syndrome +
myeloid leukemia associated with Down Syndrome
myofascial pain syndrome +
Myopathic Carnitine Deficiency
Myopathy with Lactic Acidosis, Hereditary
Myopathy, Cataract, Hypogonadism Syndrome
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia
myostatin-related muscle hypertrophy
Myotonia with Skeletal Abnormalities and Mental Retardation
Naguib-Richieri-Costa Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
neonatal abstinence syndrome
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification
nerve compression syndrome +
Nestor-Guillermo Progeria Syndrome
Neuhauser Daly Magnelli Syndrome
Neuhauser Eichner Opitz Syndrome
Neurocutaneous Syndromes +
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills
Neurofaciodigitorenal Syndrome
neurooculocardiogenitourinary syndrome
neutral lipid storage disease +
Neutropenic Enterocolitis
NF1 Microduplication Syndrome
Nicolaides Baraitser Syndrome
Nijmegen breakage syndrome +
Noble Bass Sherman Syndrome
Non Ketotic Hyperglycinemia Syndrome
non-syndromic intellectual disability +
Nonkeratan-Sulfate-Excreting Morquio Syndrome
nonprogressive cerebellar ataxia with mental retardation
Noonan syndrome with multiple lentigines +
O'Donnell Pappas Syndrome
O'Donnell-Luria-Rodan Syndrome
Obesity Hypoventilation Syndrome
Occipital Cortical Malformations
Oculoauriculofrontonasal Syndrome
Oculocerebrocutaneous Syndrome
oculocerebrorenal syndrome +
oculocutaneous albinism +
Oculodental Syndrome Rutherfurd Syndrome
oculodentodigital dysplasia +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
Oculoskeletodental Syndrome
Odontoma Dysphagia Syndrome
Odontotrichoungual-Digital-Palmar Syndrome
Okur-Chung Neurodevelopmental Syndrome
Oligodontia-Colorectal Cancer Syndrome
Oliver-McFarlane syndrome
Onychotrichodysplasia and Neutropenia
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Opitz Reynolds Fitzgerald syndrome
Opsoclonus-Myoclonus Syndrome +
Optic Atrophy Spastic Paraplegia Syndrome
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
ornithine translocase deficiency
orofaciodigital syndrome +
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
Osteolysis Syndrome, Recessive
Osteopenic Nonfracture Syndrome
osteoporosis-pseudoglioma syndrome
Otofacioosseous-Gonadal Syndrome
Otoonychoperoneal Syndrome
ovarian hyperstimulation syndrome
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
Palant Cleft Palate Syndrome
Pallister Killian Syndrome
Pallister-Hall syndrome +
palmoplantar keratoderma and congenital alopecia 2
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Parana Hard Skin Syndrome
Paraneoplastic Syndromes +
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome
Partial Duplication 15q Syndrome
partial fetal alcohol syndrome
Partial Trisomy 3q Syndrome
Partington Anderson Syndrome
Pascual Castroviejo Syndrome
Patella Hypoplasia Mental Retardation
patellofemoral pain syndrome
Patterson Pseudoleprechaunism Syndrome
Patterson Stevenson Syndrome
Pavone Fiumara Rizzo Syndrome
Pectoralis Muscle, Absence of
periodic limb movement disorder
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
Perniola Krajewska Carnevale Syndrome
persistent fetal circulation syndrome
persistent Mullerian duct syndrome
Peters Anomaly with Cataract
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Rockelein Syndrome
Pfeiffer Tietze Welte Syndrome
Pheochromocytoma Islet Cell Tumor Syndrome
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
photosensitive trichothiodystrophy 1
Piepkorn Karp Hickok syndrome
pigment dispersion syndrome
Pilarowski-Bjornsson Syndrome
Pinheiro Freire-Maia Miranda Syndrome
Piriformis Muscle Syndrome +
Pituitary Stalk Interruption Syndrome
Piussan Lenaerts Mathieu syndrome
plasminogen deficiency type I
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
Polycystic Kidney, Cataract, and Congenital Blindness
Polydactyly Myopia Syndrome
Polyendocrine-Polyneuropathy Syndrome
Polyosteolysis-Hyperostosis Syndrome
popliteal pterygium syndrome +
Porcine Postweaning Multisystemic Wasting Syndrome
Porcine Reproductive and Respiratory Syndrome
PORETTI-BOLTSHAUSER SYNDROME
post-cardiac arrest syndrome
postaxial acrofacial dysostosis
postcholecystectomy syndrome
Posterior Leukoencephalopathy Syndrome
postgastrectomy syndrome +
Postpericardiotomy Syndrome
postpoliomyelitis syndrome
postural orthostatic tachycardia syndrome
Poult Enteritis Mortality Syndrome
Powell Chandra Saal Syndrome
Powell Venencie Gordon syndrome
Prata Libéral Gonçalves Syndrome
Pre-Excitation Syndromes +
Preeyasombat Varavithya Syndrome
Premature Aging, Okamoto Type
Premature Ovarian Failure 10
Presumed Ocular Histoplasmosis Syndrome
primary coenzyme Q10 deficiency 4
primary hypertrophic osteoarthropathy +
primary immunodeficiency disease +
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency
progressive osseous heteroplasia
Progressive Vitiligo with Mental Retardation and Urethral Duplication
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation
Propofol Infusion Syndrome
proprotein convertase 1/3 deficiency
Proteasome-Associated Autoinflammatory Syndromes +
Proximal Myopathy with Focal Depletion of Mitochondria
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
Pseudo-Zellweger Syndrome
Pseudoaminopterin Syndrome
Pseudouridinuria and Mental Defect
Radioulnar Synostosis Retinal Pigment Abnormalities
Rajab Interstitial Lung Disease with Brain Calcifications +
Ramos Arroyo Clark Syndrome
Rasmussen Johnsen Thomsen Syndrome
Ray Peterson Scott Syndrome
Reardon Hall Slaney syndrome
Reardon Wilson Cavanagh Syndrome
Recombinant Chromosome 8 Syndrome
Reginato Schiapachasse Syndrome
Renal Dysplasia - Limb Defects Syndrome
renal hypomagnesemia 5 with ocular involvement
Renal Nutcracker Syndrome
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Retinohepatoendocrinologic Syndrome
Richieri Costa Da Silva Syndrome
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Ridges-off-the-end Syndrome
Ring Chromosome 14 Syndrome
Ring Chromosome 20 Syndrome
Ring Chromosome 4 Syndrome
Ritscher-Schinzel syndrome 2
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Robinson Miller Bensimon Syndrome
Roifman-Chitayat Syndrome
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
Rommen Mueller Sybert Syndrome
Rosenthal-Kloepfer Syndrome
Rosselli-Gulienetti Syndrome
Rothmund-Thomson syndrome +
Rowley-Rosenberg Syndrome
Roy Maroteaux Kremp Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein Taybi like Syndrome
Rubinstein-Taybi syndrome +
Ruvalcaba Churesigaew Myhre Syndrome
Ruzicka Goerz Anton syndrome
Sackey Sakati Aur Syndrome
Saito Kuba Tsuruta Syndrome
Sammartino De Crecchio Syndrome
Sanderson Fraser Syndrome
Sandestig-Stefanova Syndrome
Sandhaus Ben-Ami Syndrome
Santos Mateus Leal Syndrome
Sao Paulo MCA/MR Syndrome
SATB2-associated syndrome
Saul Wilkes Stevenson syndrome
Say Barber Miller Syndrome
Say Field Coldwell syndrome
Scaphocephaly, Maxillary Retrusion, and Mental Retardation
Schaap Taylor Baraitser Syndrome
Schaefer Stein Oshman Syndrome
Schimke X-Linked Mental Retardation Syndrome
Schinzel-Giedion Syndrome
Schlegelberger Grote Syndrome
Schofer Beetz Bohl Syndrome
Schopf-Schulz-Passarge syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Schuurs-Hoeijmakers syndrome
Schwartz Cohen-Addad Lambert Syndrome
Schwartz-Jampel syndrome 1
Schweitzer Kemink Graham Syndrome
Sclerosing Bone Dysplasia, Mental Retardation
seasonal affective disorder
Second Metatarsal-Metacarpal Syndrome
Seizures, Cortical Blindness, and Microcephaly Syndrome
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Selig Benacerraf Greene Syndrome
Sensorineural Deafness and Migraine
Seres-Santamaria Arimany Muniz Syndrome
Sertoli cell-only syndrome +
Sessile Serrated Polyposis Cancer Syndrome
severe acute respiratory syndrome
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
Sharma Kapoor Ramji Syndrome
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
Short Stature-Obesity Syndrome
shoulder impingement syndrome
Shprintzen Omphalocele Syndrome
Siegler Brewer Carey Syndrome
SIFRIM-HITZ-WEISS SYNDROME
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Simian Acquired Immunodeficiency Syndrome
Simosa Cranio Facial Syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Singh Chhaparwal Dhanda Syndrome
Singleton Merten Syndrome +
Sjogren-Larsson syndrome +
Sjogren-Larsson-like Syndrome
Sjögren-Mikulicz Syndrome
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Muscle Reperfusion Injury
Sketetal Dysplasia Coarse Facies Mental Retardation
Skin Fragility-Woolly Hair Syndrome
Skraban-Deardorff Syndrome
Slavotinek Pike Mills Hurst Syndrome
Smith-Lemli-Opitz syndrome +
Snijders Blok-Campeau Syndrome
Spastic Diplegia Infantile Type
Spastic Paraplegia and Evans Syndrome
Spastic Paraplegia with Kallmann Syndrome
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
Spinal Muscular Atrophy with Mental Retardation
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
spondylocarpotarsal synostosis syndrome
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Genevieve-type
spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation
Spondyloocular Syndrome, Autosomal Recessive
Spranger Schinzel Myers Syndrome
STANKIEWICZ-ISIDOR SYNDROME
Stern Lubinsky Durrie Syndrome
Stocco Dos Santos type X-linked intellectual disability
Stoelinga de Koomen Davis Syndrome
Stoll Alembik Dott Syndrome
Stoll Levy Francfort Syndrome
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
Structural Heart Defects and Renal Anomalies Syndrome
subclavian steal syndrome
Sucrosuria, Hiatus Hernia and Mental Retardation
sudden infant death syndrome +
Sudden Unexpected Nocturnal Death Syndrome
SULEIMAN-EL-HATTAB SYNDROME
superior mesenteric artery syndrome +
Superior Vena Cava Syndrome
supine hypotensive syndrome
Syndactyly-Polydactyly-Earlobe Syndrome
syndromic intellectual disability +
syndromic microphthalmia 2
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Turner type
Systemic Inflammatory Response Syndrome +
systemic primary carnitine deficiency disease
Takenouchi-Kosaki Syndrome
Tatton-Brown-Rahman Syndrome
Teebi Naguib Al Awadi syndrome
Tel Hashomer Camptodactyly Syndrome
Telfer Sugar Jaeger Syndrome
Temple-Baraitser syndrome
Temporomandibular Joint Dysfunction Syndrome
temtamy preaxial brachydactyly syndrome
terminal osseous dysplasia
tethered spinal cord syndrome
Tetraphocomelia-Thrombocytopenia Syndrome
Thai Symphalangism Syndrome
THAUVIN-ROBINET-FAIVRE SYNDROME
Theodor Hertz Goodman Syndrome
thiamine-responsive megaloblastic anemia syndrome
Thomas Jewett Raines Syndrome
Thompson Baraitser Syndrome
Thoracic Dysplasia-Hydrocephalus Syndrome
Thrombocytopenia Absent Ulnar Syndrome
Thyrocerebral-Retinal Syndrome
thyroid hormone resistance syndrome +
Tn polyagglutination syndrome
Tolchin-Le Caignec Syndrome
Tollner Horst Manzke Syndrome
Tranebjaerg Svejgaard syndrome
Treacher Collins syndrome +
Treft Sanborn Carey Syndrome
trichodontoosseous syndrome
trichohepatoenteric syndrome +
Trichohepatoneurodevelopmental Syndrome
Trichorhinophalangeal Syndrome +
Trisomy 22 Mosaicism Syndrome
Trueb Burg Bottani Syndrome
Tryptophanuria with Dwarfism
Tumor Predisposition Syndrome
Tunglang Savage Bellman Syndrome
Ulna Metaphyseal Dysplasia Syndrome
Ulnar Hypoplasia with Mental Retardation
Ulnar Nerve Compression Syndromes +
Uncombable Hair Syndrome +
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Urban Schosser Spohn Syndrome
Urioste Martinez-Frias Syndrome
Uruguay faciocardiomusculoskeletal syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Van Bogaert-Hozay Syndrome
Van den Ende-Gupta syndrome
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Vasquez Hurst Sotos Syndrome
Velofacioskeletal Syndrome
ventriculomegaly - cystic kidney disease
Verloes Gillerot Fryns Syndrome
Verloes Van Maldergem Marneffe Syndrome
Verloove-Vanhorick Brubakk Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral artery insufficiency +
very long chain acyl-CoA dehydrogenase deficiency
Viljoen Kallis Voges Syndrome
Vogt-Koyanagi-Harada disease
Volcke Soekarman Syndrome
Walbaum Titran Durieux Crepin Syndrome
Walker-Warburg syndrome +
Warburton Anyane Yeboa Syndrome
Waterhouse-Friderichsen syndrome +
Weill-Marchesani syndrome +
Weinstein Kliman Scully Syndrome
Weissenbacher-Zweymuller syndrome +
Wellesley Carmen French Syndrome
Wernicke-Korsakoff syndrome
Weyers Ulnar Ray/Oligodactyly Syndrome
Whyte Murphy Fallon Sly syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Williams-Beuren syndrome +
Winship Viljoen Leary Syndrome
Winter Harding Hyde Syndrome
Winter Shortland Temple Syndrome
Wolcott-Rallison syndrome
Woodhouse-Sakati Syndrome
Woods Black Norbury Syndrome
Woods Leversha Rogers Syndrome
X-linked retinitis pigmentosa and sinorespiratory infections
Yemenite Deaf-Blind Hypopigmentation Syndrome
Zadik Barak Levin Syndrome
Zazam Sheriff Phillips Syndrome
Zerres Rietschel Majewski Syndrome
Zika virus congenital syndrome
Zimmerman Laband Syndrome +
Zonular Cataract and Nystagmus
Zori Stalker Williams Syndrome
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