Path 1 |
disease |
14278 |
|
Developmental Disease |
12507 |
|
Neurodevelopmental Disorders |
6294 |
|
intellectual disability |
4002 |
|
AGAT deficiency |
17 |
|
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency |
1 |
|
AMED syndrome |
1 |
|
AMME complex |
0 |
|
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION |
1 |
|
Absent Eyebrows and Eyelashes with Mental Retardation |
0 |
|
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations |
0 |
|
Akesson Syndrome |
0 |
|
Al Gazali Aziz Salem Syndrome |
0 |
|
Al-Raqad Syndrome |
1 |
|
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus |
0 |
|
Alazami Syndrome |
2 |
|
Alazami-Yuan Syndrome |
3 |
|
Alopecia Contractures Dwarfism Mental Retardation |
0 |
|
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality |
0 |
|
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan |
0 |
|
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis |
0 |
|
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation |
0 |
|
Amyotrophic Dystonic Paraplegia |
0 |
|
Ansell Bywaters Elderking Syndrome |
0 |
|
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation |
0 |
|
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation |
0 |
|
Arthrogryposis, Impaired Intellectual Development, and Seizures |
2 |
|
Au-Kline Syndrome |
5 |
|
Aughton Syndrome |
0 |
|
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation |
0 |
|
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development |
2 |
|
Ayme-Gripp syndrome |
1 |
|
BDV Syndrome |
1 |
|
BURATTI-HAREL SYNDROME |
2 |
|
Baraitser Rodeck Garner syndrome |
0 |
|
Baraitser-Winter syndrome + |
12 |
|
Basel-Vanagaite-Smirin-Yosef syndrome |
1 |
|
Battaglia Neri Syndrome |
0 |
|
Beaulieu-Boycott-Innes Syndrome |
2 |
|
Behr syndrome |
1 |
|
Bellini Chiumello Rimoldi Syndrome |
0 |
|
Biemond Syndrome II |
0 |
|
Birk-Barel syndrome |
2 |
|
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation |
0 |
|
Bohring Syndrome |
2 |
|
Boudhina Yedes Khiari syndrome |
0 |
|
Bresheck/Bresek Syndrome |
0 |
|
Brunner syndrome |
3 |
|
Bullous Dystrophy, Hereditary Macular Type |
0 |
|
C syndrome |
1 |
|
CAHMR Syndrome |
0 |
|
CATIFA Syndrome |
1 |
|
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM |
1 |
|
CHIME syndrome |
1 |
|
Camera Marugo Cohen Syndrome |
0 |
|
Cantalamessa Baldini Ambrosi Syndrome |
0 |
|
Cantu Sanchez-Corona Fragoso Syndrome |
0 |
|
Cartwright Nelson Fryns Syndrome |
0 |
|
Cataracts, Ataxia, Short Stature, and Mental Retardation |
0 |
|
Cephalin Lipidosis |
0 |
|
Cerebral Visual Impairment and Intellectual Disability |
17 |
|
Cerebrooculonasal Syndrome |
0 |
|
Choroid Plexus Calcification with Mental Retardation |
0 |
|
Chromosome 18 Pericentric Inversion |
0 |
|
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB |
24 |
|
Chromosome Xq28 Duplication Syndrome |
19 |
|
Chudley-Rozdilsky Syndrome |
0 |
|
Cochlear Deafness with Myopia and Intellectual Impairment |
0 |
|
Coffin Syndrome 1 |
0 |
|
Cohen syndrome |
36 |
|
Cohen-Gibson Syndrome |
1 |
|
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
0 |
|
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy |
0 |
|
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation |
0 |
|
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome |
0 |
|
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation |
0 |
|
Congenital Muscular Dystrophy plus Mental Retardation |
0 |
|
Cornelia de Lange syndrome + |
40 |
|
Cortical Blindness, Retardation, and Postaxial Polydactyly |
0 |
|
Craniofaciofrontodigital Syndrome |
0 |
|
Craniosynostosis Mental Retardation Clefting Syndrome |
0 |
|
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig |
0 |
|
Cree Mental Retardation Syndrome |
0 |
|
Cri-du-Chat syndrome + |
19 |
|
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies |
0 |
|
Curatolo Cilio Pessagno Syndrome |
0 |
|
Cutis Verticis Gyrata and Mental Deficiency |
0 |
|
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality |
0 |
|
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY |
1 |
|
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES |
2 |
|
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES |
1 |
|
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES |
1 |
|
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES |
2 |
|
DOORS syndrome |
2 |
|
Davis Lafer Syndrome |
0 |
|
De Sanctis-Cacchione syndrome |
1 |
|
Deafness, Congenital Onychodystrophy, Recessive Form |
0 |
|
Devriendt syndrome |
0 |
|
Diets-Jongmans Syndrome |
1 |
|
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation |
0 |
|
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies |
0 |
|
Distal Transverse Limb Defects with Mental Retardation and Spasticity |
0 |
|
Down syndrome + |
54 |
|
Dubowitz syndrome |
0 |
|
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave |
0 |
|
Duker Weiss Siber syndrome |
0 |
|
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone |
0 |
|
Dyggve-Melchior-Clausen disease + |
2 |
|
Dyskinesias, Seizures, and Intellectual Developmental Disorder |
1 |
|
Dysmyelination with Jaundice |
0 |
|
EAST syndrome |
4 |
|
Ectodermal Dysplasia, Mental Retardation, Syndactyly |
0 |
|
Elliott Ludman Teebi Syndrome |
0 |
|
Emanuel Syndrome |
0 |
|
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration |
0 |
|
Epilepsy Telangiectasia |
0 |
|
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME |
1 |
|
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation |
0 |
|
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome |
1 |
|
Faciocardiomelic Syndrome |
0 |
|
Fallot Complex with Severe Mental and Growth Retardation |
0 |
|
Familial Convulsive Disorder with Prenatal or Early Onset |
0 |
|
Feingold Trainer Syndrome |
0 |
|
Feingold syndrome + |
1 |
|
Filippi syndrome |
1 |
|
Fine-Lubinsky Syndrome |
3 |
|
Fitzsimmons Walson Mellor Syndrome |
0 |
|
Fitzsimmons-McLachlan-Gilbert syndrome |
0 |
|
Focal Epilepsy with Speech Disorder and with or without Mental Retardation |
2 |
|
Fountain Syndrome |
0 |
|
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES |
1 |
|
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY |
1 |
|
Garret Tripp Syndrome |
0 |
|
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones |
0 |
|
Genitopatellar Syndrome |
15 |
|
Gillespie syndrome |
1 |
|
Gingival Fibromatosis with Hypertrichosis and Mental Retardation |
0 |
|
Goniodysgenesis-Mental Retardation-Short Stature Syndrome |
0 |
|
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy |
0 |
|
Growth Mental Deficiency Syndrome of Myhre |
2 |
|
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia |
0 |
|
Gurrieri Sammito Bellussi Syndrome |
0 |
|
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME |
1 |
|
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY + |
2 |
|
Hair Defect with Photosensitivity and Mental Retardation |
0 |
|
Hall Riggs Mental Retardation Syndrome |
0 |
|
Hamamy Syndrome |
1 |
|
Harel-Yoon syndrome |
1 |
|
Harrod Doman Keele Syndrome |
0 |
|
Haspeslagh Fryns Muelenaere Syndrome |
0 |
|
Hittner Hirsch Kreh Syndrome |
4 |
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate |
1 |
|
Hooft Disease |
0 |
|
Hordnes Engebretsen Knudtson syndrome |
0 |
|
Hoxha-Aliu syndrome |
1 |
|
Hoyeraal Hreidarsson Syndrome |
5 |
|
Hunter-McAlpine Syndrome |
0 |
|
Hydroxylysinuria |
0 |
|
Hyperleucine-Isoleucinemia |
0 |
|
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria |
0 |
|
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly |
0 |
|
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum |
0 |
|
Hypospadias-Mental Retardation Syndrome |
0 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES |
2 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES |
2 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN |
3 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES |
1 |
|
Ichthyosis and Male Hypogonadism |
0 |
|
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment |
0 |
|
Ichthyosis, Spastic Quadriplegia, and Mental Retardation |
1 |
|
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin |
0 |
|
Impaired intellectual development, anterior maxillary protrusion, and strabismus |
1 |
|
Indolylacroyl Glycinuria with Mental Retardation |
0 |
|
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development |
1 |
|
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase |
0 |
|
Infantile Hypotonia with Psychomotor Retardation + |
4 |
|
Infantile Multisystem Neurologic Disease with Osseous Fragility |
0 |
|
Intellectual Developmental Disorder with Autism and Dysmorphic Facies |
1 |
|
Intellectual Developmental Disorder with Autism and Macrocephaly |
1 |
|
Intellectual Developmental Disorder with Autism and Speech Delay |
1 |
|
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies |
1 |
|
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis |
2 |
|
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies |
1 |
|
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay |
2 |
|
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies |
1 |
|
Intellectual Developmental Disorder with Seizures and Language Delay |
1 |
|
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy |
2 |
|
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies |
5 |
|
Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type |
2 |
|
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis |
1 |
|
Jagell Holmgren Hofer Syndrome |
0 |
|
Johanson-Blizzard syndrome |
1 |
|
Joubert Syndrome 27 |
1 |
|
Joubert Syndrome 28 |
1 |
|
Joubert syndrome 14 |
5 |
|
Joubert syndrome 15 |
1 |
|
Joubert syndrome 7 |
3 |
|
Joubert syndrome 9 |
7 |
|
KBG syndrome |
46 |
|
KINSSHIP syndrome |
1 |
|
KOHLSCHUTTER-TONZ SYNDROME-LIKE |
1 |
|
Kahrizi syndrome |
1 |
|
Kaler Garrity Stern Syndrome |
0 |
|
Kapur Toriello Syndrome |
1 |
|
Karandikar Maria Kamble Syndrome |
0 |
|
Katsantoni Papadakou Lagoyanni Syndrome |
0 |
|
Keppen-Lubinsky Syndrome |
1 |
|
Khalifa Graham Syndrome |
0 |
|
Kleefstra syndrome + |
102 |
|
Koone Rizzo Elias Syndrome |
0 |
|
Kosztolanyi Syndrome |
0 |
|
Kozlowski Ouvrier Syndrome |
0 |
|
Kozlowski Rafinski Klicharska Syndrome |
0 |
|
Kozlowski-Krajewska Syndrome |
0 |
|
Kuzniecky Andermann Syndrome |
0 |
|
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME |
0 |
|
Lambert Syndrome |
0 |
|
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation |
0 |
|
Lenz-Majewski hyperostotic dwarfism |
1 |
|
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
0 |
|
Li-Campeau Syndrome |
2 |
|
Lowry Maclean syndrome |
0 |
|
Lowry Wood Syndrome |
1 |
|
Lubani Al Saleh Teebi Syndrome |
0 |
|
Luscan-Lumish Syndrome |
4 |
|
Lynch Lee Murday syndrome |
0 |
|
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT |
1 |
|
MASA syndrome |
2 |
|
MEND syndrome |
1 |
|
MOMES Syndrome |
0 |
|
MORM Syndrome |
1 |
|
Macrosomia Obesity Macrocephaly Ocular Abnormalities |
0 |
|
Male Hypogonadism with Mental Retardation and Skeletal Anomalies |
0 |
|
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
0 |
|
Mandibulofacial Dysostosis with Mental Deficiency |
1 |
|
Marfanoid Mental Retardation Syndrome, Autosomal |
96 |
|
Marinesco-Sjogren syndrome |
2 |
|
McDonough Syndrome |
0 |
|
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability |
1 |
|
Menke-Hennekam Syndrome + |
2 |
|
Mental Retardation Associated with Psoriasis |
0 |
|
Mental Retardation Mietens Weber Type |
0 |
|
Mental Retardation Smith Fineman Myers Type |
0 |
|
Mental Retardation Spasticity Ectrodactyly |
0 |
|
Mental Retardation Syndrome, Belgian Type |
0 |
|
Mental Retardation Wolff Type |
1 |
|
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects |
1 |
|
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature |
0 |
|
Mental Retardation with Spastic Paraplegia |
0 |
|
Mental Retardation, Buenos Aires Type |
0 |
|
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities |
0 |
|
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block |
0 |
|
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism |
0 |
|
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face |
0 |
|
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism |
0 |
|
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy |
0 |
|
Mental and Growth Retardation with Amblyopia |
0 |
|
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness |
0 |
|
Methionine Malabsorption Syndrome |
0 |
|
Microcephalic Primordial Dwarfism Toriello Type |
0 |
|
Microcephaly Deafness Syndrome |
0 |
|
Microcephaly Seizures Mental Retardation Heart Disorders |
0 |
|
Microcephaly Sparse Hair Mental Retardation Seizures |
0 |
|
Microcephaly with Cervical Spine Fusion Anomalies |
0 |
|
Microcephaly with Mental Retardation and Digital Anomalies |
1 |
|
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate |
0 |
|
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation |
0 |
|
Microcephaly, Macrotia, and Mental Retardation |
0 |
|
Microphthalmia and Mental Deficiency |
0 |
|
Mirhosseini-Holmes-Walton Syndrome |
0 |
|
Mollica-Pavone-Antener Syndrome |
0 |
|
Morillo-Cucci Passarge Syndrome |
0 |
|
Mowat-Wilson syndrome |
10 |
|
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability |
3 |
|
Myotonia with Skeletal Abnormalities and Mental Retardation |
0 |
|
N syndrome |
0 |
|
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY |
1 |
|
NF1 Microduplication Syndrome |
0 |
|
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification |
0 |
|
Neuhauser Syndrome |
0 |
|
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia |
1 |
|
Neurofaciodigitorenal Syndrome |
0 |
|
Nicolaides-Baraitser syndrome |
3 |
|
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME |
1 |
|
Ohdo syndrome + |
3 |
|
Okur-Chung Neurodevelopmental Syndrome |
1 |
|
Oliver Syndrome |
0 |
|
Oliver-McFarlane syndrome |
1 |
|
Onychotrichodysplasia and Neutropenia |
0 |
|
Osteolysis Syndrome, Recessive |
0 |
|
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME |
2 |
|
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts |
0 |
|
Palant Cleft Palate Syndrome |
0 |
|
Pallister W Syndrome |
0 |
|
Parkinson's disease 25 |
1 |
|
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV |
0 |
|
Pashayan Syndrome |
0 |
|
Patella Hypoplasia Mental Retardation |
0 |
|
Pavone Fiumara Rizzo Syndrome |
0 |
|
Perniola Krajewska Carnevale Syndrome |
0 |
|
Pfeiffer Kapferer Syndrome |
0 |
|
Pfeiffer Mayer Syndrome |
0 |
|
Pfeiffer Tietze Welte Syndrome |
0 |
|
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation |
0 |
|
Pilotto Syndrome |
0 |
|
Pitt-Hopkins syndrome + |
16 |
|
Piussan Lenaerts Mathieu syndrome |
0 |
|
Prader-Willi syndrome + |
16 |
|
Primrose Syndrome |
1 |
|
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency |
0 |
|
Progressive Vitiligo with Mental Retardation and Urethral Duplication |
0 |
|
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation |
0 |
|
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation |
1 |
|
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness |
0 |
|
Pseudoaminopterin Syndrome |
0 |
|
Pseudouridinuria and Mental Defect |
0 |
|
Qazi Markouizos syndrome |
0 |
|
RADIO-TARTAGLIA SYNDROME |
1 |
|
RAUCH-STEINDL SYNDROME |
1 |
|
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED |
16 |
|
Radioulnar Synostosis Retinal Pigment Abnormalities |
0 |
|
Rahman Syndrome |
1 |
|
Ramon Syndrome |
0 |
|
Ramos Arroyo Clark Syndrome |
0 |
|
Reardon Wilson Cavanagh Syndrome |
0 |
|
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism |
0 |
|
Richards-Rundle Syndrome |
0 |
|
Ritscher-Schinzel syndrome 2 |
1 |
|
Robin Sequence with Distinctive Facial Appearance and Brachydactyly |
0 |
|
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant |
0 |
|
Rubinstein-Taybi syndrome + |
77 |
|
Rud Syndrome |
0 |
|
Ruzicka Goerz Anton syndrome |
0 |
|
SATB2-associated syndrome |
2 |
|
SCARF Syndrome |
0 |
|
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES |
1 |
|
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY |
1 |
|
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS |
1 |
|
Sammartino De Crecchio Syndrome |
0 |
|
Sao Paulo MCA/MR Syndrome |
0 |
|
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development |
1 |
|
Schaaf-Yang syndrome |
2 |
|
Schinzel Giedion syndrome |
1 |
|
Schofer Beetz Bohl Syndrome |
0 |
|
Scholte Syndrome |
0 |
|
Schrander-Stumpel Theunissen Hulsmans Syndrome |
0 |
|
Sclerosing Bone Dysplasia, Mental Retardation |
0 |
|
Seckel Syndrome 3 |
0 |
|
Seckel syndrome 4 |
2 |
|
Seemanova Lesny Syndrome |
0 |
|
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration |
0 |
|
Shaheen Syndrome |
1 |
|
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures |
1 |
|
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting |
0 |
|
Simpson-Golabi-Behmel syndrome type 1 |
4 |
|
Singh Chhaparwal Dhanda Syndrome |
0 |
|
Skeletal Defects, Genital Hypoplasia, And Mental Retardation |
1 |
|
Sketetal Dysplasia Coarse Facies Mental Retardation |
2 |
|
Smith-Kingsmore Syndrome |
3 |
|
Snijders Blok-Campeau Syndrome |
2 |
|
Spastic Diplegia Infantile Type |
0 |
|
Spastic Paraplegia, Ataxia, and Mental Retardation |
0 |
|
Spastic Paraplegia, Epilepsy, Mental Retardation |
0 |
|
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy |
0 |
|
Spastic Paresis, Glaucoma, and Mental Retardation |
0 |
|
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation |
0 |
|
Spinal Muscular Atrophy with Mental Retardation |
0 |
|
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality |
0 |
|
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
1 |
|
Stevenson-Carey Syndrome |
0 |
|
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly |
1 |
|
Sucrosuria, Hiatus Hernia and Mental Retardation |
0 |
|
Supernumerary Der(22)t(8;22) Syndrome |
0 |
|
THAUVIN-ROBINET-FAIVRE SYNDROME |
1 |
|
Takenouchi-Kosaki Syndrome |
1 |
|
Tamari Goodman Syndrome |
0 |
|
Temple-Baraitser syndrome |
1 |
|
Tenorio Syndrome |
1 |
|
Tetrasomy X |
0 |
|
Tolchin-Le Caignec Syndrome |
1 |
|
Tonoki Syndrome |
0 |
|
Trichodental Syndrome |
0 |
|
Tryptophanuria with Dwarfism |
0 |
|
Tsukahara Syndrome |
1 |
|
Ulnar Hypoplasia with Mental Retardation |
0 |
|
Upton Young Syndrome |
0 |
|
VERVERI-BRADY SYNDROME |
1 |
|
Van Bogaert-Hozay Syndrome |
0 |
|
Van Den Bosch Syndrome |
0 |
|
Van Maldergem syndrome + |
3 |
|
Vasquez Hurst Sotos Syndrome |
0 |
|
Verloes Gillerot Fryns Syndrome |
0 |
|
Viljoen Kallis Voges Syndrome |
0 |
|
Vissers-Bodmer syndrome |
2 |
|
Volcke Soekarman Syndrome |
0 |
|
WAGR syndrome + |
3 |
|
Waisman syndrome |
2 |
|
Walker Dyson Syndrome |
0 |
|
Warburg micro syndrome + |
4 |
|
Warburton Anyane Yeboa Syndrome |
1 |
|
Wiedemann Grosse Dibbern Syndrome |
0 |
|
Wiedemann Oldigs Oppermann Syndrome |
0 |
|
Wiedemann-Steiner syndrome |
4 |
|
Williams-Beuren syndrome + |
29 |
|
Winship Viljoen Leary Syndrome |
0 |
|
Woodhouse-Sakati syndrome |
2 |
|
Worster-Drought Syndrome |
1 |
|
X-Linked Intellectual Developmental Disorders + |
724 |
|
Yoon-Bellen neurodevelopmental syndrome |
1 |
|
Young Hughes Syndrome |
0 |
|
ZTTK syndrome |
24 |
|
Zazam Sheriff Phillips Syndrome |
0 |
|
Zechi-Ceide Syndrome |
0 |
|
Zerres Rietschel Majewski Syndrome |
0 |
|
acrodysostosis + |
4 |
|
alacrima, achalasia, and impaired intellectual development syndrome |
49 |
|
alopecia, neurologic defects, and endocrinopathy syndrome |
1 |
|
alopecia-mental retardation syndrome + |
3 |
|
alpha thalassemia-intellectual disability syndrome type 1 |
0 |
|
autosomal dominant intellectual developmental disorder + |
400 |
|
autosomal recessive cutis laxa type III + |
2 |
|
autosomal recessive intellectual developmental disorder + |
280 |
|
autosomal recessive limb-girdle muscular dystrophy type 2P |
23 |
|
autosomal recessive spinocerebellar ataxia 12 |
2 |
|
bilateral perisylvian polymicrogyria + |
8 |
|
blepharophimosis-impaired intellectual development syndrome |
1 |
|
brachycephaly, trichomegaly, and developmental delay |
1 |
|
branched-chain keto acid dehydrogenase kinase deficiency |
33 |
|
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome + |
3 |
|
cerebellofaciodental syndrome |
1 |
|
cerebral cavernous malformation 2 |
2 |
|
cerebral cavernous malformation 3 |
2 |
|
cerebrocostomandibular syndrome |
1 |
|
cerebrooculofacioskeletal syndrome 2 |
2 |
|
cerebrooculofacioskeletal syndrome 4 |
2 |
|
chromosome 13q14 deletion syndrome |
71 |
|
chromosome 15q11.2 deletion syndrome |
24 |
|
chromosome 15q13.3 microdeletion syndrome |
6 |
|
chromosome 15q24 deletion syndrome |
10 |
|
chromosome 15q26-qter deletion syndrome |
14 |
|
chromosome 16p11.2 deletion syndrome, 593-kb |
38 |
|
chromosome 17p13.1 deletion syndrome |
0 |
|
chromosome 17q11.2 deletion syndrome |
1 |
|
chromosome 1q21.1 duplication syndrome |
7 |
|
chromosome 2q31.2 deletion syndrome |
0 |
|
chromosome 3q29 microdeletion syndrome |
21 |
|
chromosome 8q21.11 deletion syndrome |
0 |
|
cleft lip-palate-ectodermal dysplasia syndrome |
1 |
|
congenital disorder of deglycosylation 2 |
2 |
|
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
1 |
|
congenital muscular dystrophy with cataracts and intellectual disability |
1 |
|
corpus callosum agenesis-abnormal genitalia syndrome |
1 |
|
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome + |
2 |
|
deafness-dystonia-optic neuronopathy syndrome |
2 |
|
developmental and epileptic encephalopathy 9 |
27 |
|
dicarboxylic aminoaciduria |
1 |
|
frontonasal dysplasia 3 |
0 |
|
hereditary spastic paraplegia 11 |
10 |
|
hereditary spastic paraplegia 14 |
0 |
|
hereditary spastic paraplegia 18 |
1 |
|
hereditary spastic paraplegia 32 |
0 |
|
hypermethioninemia due to adenosine kinase deficiency |
1 |
|
hypoparathyroidism-retardation-dysmorphism syndrome |
2 |
|
hypotonia-cystinuria syndrome |
4 |
|
intellectual developmental disorder with cardiac arrhythmia |
1 |
|
intellectual developmental disorder with short stature and behavioral abnormalities |
1 |
|
intellectual disability and myopathy syndrome |
1 |
|
isolated cleft palate |
4 |
|
lissencephaly 3 + |
2 |
|
lissencephaly 4 |
2 |
|
mandibulofacial dysostosis, Guion-Almeida type |
1 |
|
megalencephalic leukoencephalopathy with subcortical cysts 2B |
1 |
|
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
1 |
|
multiple benign circumferential skin creases on limbs + |
2 |
|
multiple congenital anomalies-hypotonia-seizures syndrome 3 |
1 |
|
muscular dystrophy-dystroglycanopathy type B1 |
6 |
|
muscular dystrophy-dystroglycanopathy type B14 |
1 |
|
muscular dystrophy-dystroglycanopathy type B2 |
1 |
|
muscular dystrophy-dystroglycanopathy type B3 |
2 |
|
muscular dystrophy-dystroglycanopathy type B6 |
12 |
|
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities |
19 |
|
non-syndromic intellectual disability + |
53 |
|
nonprogressive cerebellar ataxia with mental retardation |
15 |
|
optic atrophy 10 |
1 |
|
parastremmatic dwarfism |
1 |
|
photosensitive trichothiodystrophy 1 |
2 |
|
spastic ataxia + |
81 |
|
spondyloepimetaphyseal dysplasia, Genevieve-type |
2 |
|
spondyloepiphyseal dysplasia tarda with intellectual disability |
0 |
|
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability |
0 |
|
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis |
1 |
|
syndromic intellectual disability + |
680 |
|
temtamy preaxial brachydactyly syndrome |
1 |
|
uveal coloboma-cleft lip and palate-intellectual disability |
1 |
|
Path 2 |
disease |
14278 |
|
disease of anatomical entity |
13984 |
|
nervous system disease |
12278 |
|
central nervous system disease |
11042 |
|
brain disease |
10367 |
|
disease of mental health |
7435 |
|
developmental disorder of mental health |
5067 |
|
specific developmental disorder |
4189 |
|
intellectual disability |
4002 |
|
AGAT deficiency |
17 |
|
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency |
1 |
|
AMED syndrome |
1 |
|
AMME complex |
0 |
|
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION |
1 |
|
Absent Eyebrows and Eyelashes with Mental Retardation |
0 |
|
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations |
0 |
|
Akesson Syndrome |
0 |
|
Al Gazali Aziz Salem Syndrome |
0 |
|
Al-Raqad Syndrome |
1 |
|
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus |
0 |
|
Alazami Syndrome |
2 |
|
Alazami-Yuan Syndrome |
3 |
|
Alopecia Contractures Dwarfism Mental Retardation |
0 |
|
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality |
0 |
|
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan |
0 |
|
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis |
0 |
|
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation |
0 |
|
Amyotrophic Dystonic Paraplegia |
0 |
|
Ansell Bywaters Elderking Syndrome |
0 |
|
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation |
0 |
|
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation |
0 |
|
Arthrogryposis, Impaired Intellectual Development, and Seizures |
2 |
|
Au-Kline Syndrome |
5 |
|
Aughton Syndrome |
0 |
|
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation |
0 |
|
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development |
2 |
|
Ayme-Gripp syndrome |
1 |
|
BDV Syndrome |
1 |
|
BURATTI-HAREL SYNDROME |
2 |
|
Baraitser Rodeck Garner syndrome |
0 |
|
Baraitser-Winter syndrome + |
12 |
|
Basel-Vanagaite-Smirin-Yosef syndrome |
1 |
|
Battaglia Neri Syndrome |
0 |
|
Beaulieu-Boycott-Innes Syndrome |
2 |
|
Behr syndrome |
1 |
|
Bellini Chiumello Rimoldi Syndrome |
0 |
|
Biemond Syndrome II |
0 |
|
Birk-Barel syndrome |
2 |
|
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation |
0 |
|
Bohring Syndrome |
2 |
|
Boudhina Yedes Khiari syndrome |
0 |
|
Bresheck/Bresek Syndrome |
0 |
|
Brunner syndrome |
3 |
|
Bullous Dystrophy, Hereditary Macular Type |
0 |
|
C syndrome |
1 |
|
CAHMR Syndrome |
0 |
|
CATIFA Syndrome |
1 |
|
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM |
1 |
|
CHIME syndrome |
1 |
|
Camera Marugo Cohen Syndrome |
0 |
|
Cantalamessa Baldini Ambrosi Syndrome |
0 |
|
Cantu Sanchez-Corona Fragoso Syndrome |
0 |
|
Cartwright Nelson Fryns Syndrome |
0 |
|
Cataracts, Ataxia, Short Stature, and Mental Retardation |
0 |
|
Cephalin Lipidosis |
0 |
|
Cerebral Visual Impairment and Intellectual Disability |
17 |
|
Cerebrooculonasal Syndrome |
0 |
|
Choroid Plexus Calcification with Mental Retardation |
0 |
|
Chromosome 18 Pericentric Inversion |
0 |
|
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB |
24 |
|
Chromosome Xq28 Duplication Syndrome |
19 |
|
Chudley-Rozdilsky Syndrome |
0 |
|
Cochlear Deafness with Myopia and Intellectual Impairment |
0 |
|
Coffin Syndrome 1 |
0 |
|
Cohen syndrome |
36 |
|
Cohen-Gibson Syndrome |
1 |
|
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
0 |
|
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy |
0 |
|
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation |
0 |
|
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome |
0 |
|
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation |
0 |
|
Congenital Muscular Dystrophy plus Mental Retardation |
0 |
|
Cornelia de Lange syndrome + |
40 |
|
Cortical Blindness, Retardation, and Postaxial Polydactyly |
0 |
|
Craniofaciofrontodigital Syndrome |
0 |
|
Craniosynostosis Mental Retardation Clefting Syndrome |
0 |
|
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig |
0 |
|
Cree Mental Retardation Syndrome |
0 |
|
Cri-du-Chat syndrome + |
19 |
|
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies |
0 |
|
Curatolo Cilio Pessagno Syndrome |
0 |
|
Cutis Verticis Gyrata and Mental Deficiency |
0 |
|
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality |
0 |
|
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY |
1 |
|
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES |
2 |
|
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES |
1 |
|
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES |
1 |
|
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES |
2 |
|
DOORS syndrome |
2 |
|
Davis Lafer Syndrome |
0 |
|
De Sanctis-Cacchione syndrome |
1 |
|
Deafness, Congenital Onychodystrophy, Recessive Form |
0 |
|
Devriendt syndrome |
0 |
|
Diets-Jongmans Syndrome |
1 |
|
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation |
0 |
|
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies |
0 |
|
Distal Transverse Limb Defects with Mental Retardation and Spasticity |
0 |
|
Down syndrome + |
54 |
|
Dubowitz syndrome |
0 |
|
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave |
0 |
|
Duker Weiss Siber syndrome |
0 |
|
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone |
0 |
|
Dyggve-Melchior-Clausen disease + |
2 |
|
Dyskinesias, Seizures, and Intellectual Developmental Disorder |
1 |
|
Dysmyelination with Jaundice |
0 |
|
EAST syndrome |
4 |
|
Ectodermal Dysplasia, Mental Retardation, Syndactyly |
0 |
|
Elliott Ludman Teebi Syndrome |
0 |
|
Emanuel Syndrome |
0 |
|
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration |
0 |
|
Epilepsy Telangiectasia |
0 |
|
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME |
1 |
|
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation |
0 |
|
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome |
1 |
|
Faciocardiomelic Syndrome |
0 |
|
Fallot Complex with Severe Mental and Growth Retardation |
0 |
|
Familial Convulsive Disorder with Prenatal or Early Onset |
0 |
|
Feingold Trainer Syndrome |
0 |
|
Feingold syndrome + |
1 |
|
Filippi syndrome |
1 |
|
Fine-Lubinsky Syndrome |
3 |
|
Fitzsimmons Walson Mellor Syndrome |
0 |
|
Fitzsimmons-McLachlan-Gilbert syndrome |
0 |
|
Focal Epilepsy with Speech Disorder and with or without Mental Retardation |
2 |
|
Fountain Syndrome |
0 |
|
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES |
1 |
|
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY |
1 |
|
Garret Tripp Syndrome |
0 |
|
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones |
0 |
|
Genitopatellar Syndrome |
15 |
|
Gillespie syndrome |
1 |
|
Gingival Fibromatosis with Hypertrichosis and Mental Retardation |
0 |
|
Goniodysgenesis-Mental Retardation-Short Stature Syndrome |
0 |
|
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy |
0 |
|
Growth Mental Deficiency Syndrome of Myhre |
2 |
|
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia |
0 |
|
Gurrieri Sammito Bellussi Syndrome |
0 |
|
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME |
1 |
|
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY + |
2 |
|
Hair Defect with Photosensitivity and Mental Retardation |
0 |
|
Hall Riggs Mental Retardation Syndrome |
0 |
|
Hamamy Syndrome |
1 |
|
Harel-Yoon syndrome |
1 |
|
Harrod Doman Keele Syndrome |
0 |
|
Haspeslagh Fryns Muelenaere Syndrome |
0 |
|
Hittner Hirsch Kreh Syndrome |
4 |
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate |
1 |
|
Hooft Disease |
0 |
|
Hordnes Engebretsen Knudtson syndrome |
0 |
|
Hoxha-Aliu syndrome |
1 |
|
Hoyeraal Hreidarsson Syndrome |
5 |
|
Hunter-McAlpine Syndrome |
0 |
|
Hydroxylysinuria |
0 |
|
Hyperleucine-Isoleucinemia |
0 |
|
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria |
0 |
|
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly |
0 |
|
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum |
0 |
|
Hypospadias-Mental Retardation Syndrome |
0 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES |
2 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES |
2 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN |
3 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES |
1 |
|
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES |
1 |
|
Ichthyosis and Male Hypogonadism |
0 |
|
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment |
0 |
|
Ichthyosis, Spastic Quadriplegia, and Mental Retardation |
1 |
|
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin |
0 |
|
Impaired intellectual development, anterior maxillary protrusion, and strabismus |
1 |
|
Indolylacroyl Glycinuria with Mental Retardation |
0 |
|
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development |
1 |
|
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase |
0 |
|
Infantile Hypotonia with Psychomotor Retardation + |
4 |
|
Infantile Multisystem Neurologic Disease with Osseous Fragility |
0 |
|
Intellectual Developmental Disorder with Autism and Dysmorphic Facies |
1 |
|
Intellectual Developmental Disorder with Autism and Macrocephaly |
1 |
|
Intellectual Developmental Disorder with Autism and Speech Delay |
1 |
|
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies |
1 |
|
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis |
2 |
|
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies |
1 |
|
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay |
2 |
|
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies |
1 |
|
Intellectual Developmental Disorder with Seizures and Language Delay |
1 |
|
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy |
2 |
|
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies |
5 |
|
Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type |
2 |
|
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis |
1 |
|
Jagell Holmgren Hofer Syndrome |
0 |
|
Johanson-Blizzard syndrome |
1 |
|
Joubert Syndrome 27 |
1 |
|
Joubert Syndrome 28 |
1 |
|
Joubert syndrome 14 |
5 |
|
Joubert syndrome 15 |
1 |
|
Joubert syndrome 7 |
3 |
|
Joubert syndrome 9 |
7 |
|
KBG syndrome |
46 |
|
KINSSHIP syndrome |
1 |
|
KOHLSCHUTTER-TONZ SYNDROME-LIKE |
1 |
|
Kahrizi syndrome |
1 |
|
Kaler Garrity Stern Syndrome |
0 |
|
Kapur Toriello Syndrome |
1 |
|
Karandikar Maria Kamble Syndrome |
0 |
|
Katsantoni Papadakou Lagoyanni Syndrome |
0 |
|
Keppen-Lubinsky Syndrome |
1 |
|
Khalifa Graham Syndrome |
0 |
|
Kleefstra syndrome + |
102 |
|
Koone Rizzo Elias Syndrome |
0 |
|
Kosztolanyi Syndrome |
0 |
|
Kozlowski Ouvrier Syndrome |
0 |
|
Kozlowski Rafinski Klicharska Syndrome |
0 |
|
Kozlowski-Krajewska Syndrome |
0 |
|
Kuzniecky Andermann Syndrome |
0 |
|
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME |
0 |
|
Lambert Syndrome |
0 |
|
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation |
0 |
|
Lenz-Majewski hyperostotic dwarfism |
1 |
|
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
0 |
|
Li-Campeau Syndrome |
2 |
|
Lowry Maclean syndrome |
0 |
|
Lowry Wood Syndrome |
1 |
|
Lubani Al Saleh Teebi Syndrome |
0 |
|
Luscan-Lumish Syndrome |
4 |
|
Lynch Lee Murday syndrome |
0 |
|
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT |
1 |
|
MASA syndrome |
2 |
|
MEND syndrome |
1 |
|
MOMES Syndrome |
0 |
|
MORM Syndrome |
1 |
|
Macrosomia Obesity Macrocephaly Ocular Abnormalities |
0 |
|
Male Hypogonadism with Mental Retardation and Skeletal Anomalies |
0 |
|
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
0 |
|
Mandibulofacial Dysostosis with Mental Deficiency |
1 |
|
Marfanoid Mental Retardation Syndrome, Autosomal |
96 |
|
Marinesco-Sjogren syndrome |
2 |
|
McDonough Syndrome |
0 |
|
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability |
1 |
|
Menke-Hennekam Syndrome + |
2 |
|
Mental Retardation Associated with Psoriasis |
0 |
|
Mental Retardation Mietens Weber Type |
0 |
|
Mental Retardation Smith Fineman Myers Type |
0 |
|
Mental Retardation Spasticity Ectrodactyly |
0 |
|
Mental Retardation Syndrome, Belgian Type |
0 |
|
Mental Retardation Wolff Type |
1 |
|
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects |
1 |
|
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature |
0 |
|
Mental Retardation with Spastic Paraplegia |
0 |
|
Mental Retardation, Buenos Aires Type |
0 |
|
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities |
0 |
|
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block |
0 |
|
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism |
0 |
|
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face |
0 |
|
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism |
0 |
|
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy |
0 |
|
Mental and Growth Retardation with Amblyopia |
0 |
|
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness |
0 |
|
Methionine Malabsorption Syndrome |
0 |
|
Microcephalic Primordial Dwarfism Toriello Type |
0 |
|
Microcephaly Deafness Syndrome |
0 |
|
Microcephaly Seizures Mental Retardation Heart Disorders |
0 |
|
Microcephaly Sparse Hair Mental Retardation Seizures |
0 |
|
Microcephaly with Cervical Spine Fusion Anomalies |
0 |
|
Microcephaly with Mental Retardation and Digital Anomalies |
1 |
|
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate |
0 |
|
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation |
0 |
|
Microcephaly, Macrotia, and Mental Retardation |
0 |
|
Microphthalmia and Mental Deficiency |
0 |
|
Mirhosseini-Holmes-Walton Syndrome |
0 |
|
Mollica-Pavone-Antener Syndrome |
0 |
|
Morillo-Cucci Passarge Syndrome |
0 |
|
Mowat-Wilson syndrome |
10 |
|
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability |
3 |
|
Myotonia with Skeletal Abnormalities and Mental Retardation |
0 |
|
N syndrome |
0 |
|
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY |
1 |
|
NF1 Microduplication Syndrome |
0 |
|
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification |
0 |
|
Neuhauser Syndrome |
0 |
|
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia |
1 |
|
Neurofaciodigitorenal Syndrome |
0 |
|
Nicolaides-Baraitser syndrome |
3 |
|
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME |
1 |
|
Ohdo syndrome + |
3 |
|
Okur-Chung Neurodevelopmental Syndrome |
1 |
|
Oliver Syndrome |
0 |
|
Oliver-McFarlane syndrome |
1 |
|
Onychotrichodysplasia and Neutropenia |
0 |
|
Osteolysis Syndrome, Recessive |
0 |
|
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME |
2 |
|
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts |
0 |
|
Palant Cleft Palate Syndrome |
0 |
|
Pallister W Syndrome |
0 |
|
Parkinson's disease 25 |
1 |
|
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV |
0 |
|
Pashayan Syndrome |
0 |
|
Patella Hypoplasia Mental Retardation |
0 |
|
Pavone Fiumara Rizzo Syndrome |
0 |
|
Perniola Krajewska Carnevale Syndrome |
0 |
|
Pfeiffer Kapferer Syndrome |
0 |
|
Pfeiffer Mayer Syndrome |
0 |
|
Pfeiffer Tietze Welte Syndrome |
0 |
|
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation |
0 |
|
Pilotto Syndrome |
0 |
|
Pitt-Hopkins syndrome + |
16 |
|
Piussan Lenaerts Mathieu syndrome |
0 |
|
Prader-Willi syndrome + |
16 |
|
Primrose Syndrome |
1 |
|
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency |
0 |
|
Progressive Vitiligo with Mental Retardation and Urethral Duplication |
0 |
|
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation |
0 |
|
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation |
1 |
|
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness |
0 |
|
Pseudoaminopterin Syndrome |
0 |
|
Pseudouridinuria and Mental Defect |
0 |
|
Qazi Markouizos syndrome |
0 |
|
RADIO-TARTAGLIA SYNDROME |
1 |
|
RAUCH-STEINDL SYNDROME |
1 |
|
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED |
16 |
|
Radioulnar Synostosis Retinal Pigment Abnormalities |
0 |
|
Rahman Syndrome |
1 |
|
Ramon Syndrome |
0 |
|
Ramos Arroyo Clark Syndrome |
0 |
|
Reardon Wilson Cavanagh Syndrome |
0 |
|
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism |
0 |
|
Richards-Rundle Syndrome |
0 |
|
Ritscher-Schinzel syndrome 2 |
1 |
|
Robin Sequence with Distinctive Facial Appearance and Brachydactyly |
0 |
|
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant |
0 |
|
Rubinstein-Taybi syndrome + |
77 |
|
Rud Syndrome |
0 |
|
Ruzicka Goerz Anton syndrome |
0 |
|
SATB2-associated syndrome |
2 |
|
SCARF Syndrome |
0 |
|
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES |
1 |
|
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY |
1 |
|
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS |
1 |
|
Sammartino De Crecchio Syndrome |
0 |
|
Sao Paulo MCA/MR Syndrome |
0 |
|
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development |
1 |
|
Schaaf-Yang syndrome |
2 |
|
Schinzel Giedion syndrome |
1 |
|
Schofer Beetz Bohl Syndrome |
0 |
|
Scholte Syndrome |
0 |
|
Schrander-Stumpel Theunissen Hulsmans Syndrome |
0 |
|
Sclerosing Bone Dysplasia, Mental Retardation |
0 |
|
Seckel Syndrome 3 |
0 |
|
Seckel syndrome 4 |
2 |
|
Seemanova Lesny Syndrome |
0 |
|
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration |
0 |
|
Shaheen Syndrome |
1 |
|
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures |
1 |
|
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting |
0 |
|
Simpson-Golabi-Behmel syndrome type 1 |
4 |
|
Singh Chhaparwal Dhanda Syndrome |
0 |
|
Skeletal Defects, Genital Hypoplasia, And Mental Retardation |
1 |
|
Sketetal Dysplasia Coarse Facies Mental Retardation |
2 |
|
Smith-Kingsmore Syndrome |
3 |
|
Snijders Blok-Campeau Syndrome |
2 |
|
Spastic Diplegia Infantile Type |
0 |
|
Spastic Paraplegia, Ataxia, and Mental Retardation |
0 |
|
Spastic Paraplegia, Epilepsy, Mental Retardation |
0 |
|
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy |
0 |
|
Spastic Paresis, Glaucoma, and Mental Retardation |
0 |
|
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation |
0 |
|
Spinal Muscular Atrophy with Mental Retardation |
0 |
|
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality |
0 |
|
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
1 |
|
Stevenson-Carey Syndrome |
0 |
|
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly |
1 |
|
Sucrosuria, Hiatus Hernia and Mental Retardation |
0 |
|
Supernumerary Der(22)t(8;22) Syndrome |
0 |
|
THAUVIN-ROBINET-FAIVRE SYNDROME |
1 |
|
Takenouchi-Kosaki Syndrome |
1 |
|
Tamari Goodman Syndrome |
0 |
|
Temple-Baraitser syndrome |
1 |
|
Tenorio Syndrome |
1 |
|
Tetrasomy X |
0 |
|
Tolchin-Le Caignec Syndrome |
1 |
|
Tonoki Syndrome |
0 |
|
Trichodental Syndrome |
0 |
|
Tryptophanuria with Dwarfism |
0 |
|
Tsukahara Syndrome |
1 |
|
Ulnar Hypoplasia with Mental Retardation |
0 |
|
Upton Young Syndrome |
0 |
|
VERVERI-BRADY SYNDROME |
1 |
|
Van Bogaert-Hozay Syndrome |
0 |
|
Van Den Bosch Syndrome |
0 |
|
Van Maldergem syndrome + |
3 |
|
Vasquez Hurst Sotos Syndrome |
0 |
|
Verloes Gillerot Fryns Syndrome |
0 |
|
Viljoen Kallis Voges Syndrome |
0 |
|
Vissers-Bodmer syndrome |
2 |
|
Volcke Soekarman Syndrome |
0 |
|
WAGR syndrome + |
3 |
|
Waisman syndrome |
2 |
|
Walker Dyson Syndrome |
0 |
|
Warburg micro syndrome + |
4 |
|
Warburton Anyane Yeboa Syndrome |
1 |
|
Wiedemann Grosse Dibbern Syndrome |
0 |
|
Wiedemann Oldigs Oppermann Syndrome |
0 |
|
Wiedemann-Steiner syndrome |
4 |
|
Williams-Beuren syndrome + |
29 |
|
Winship Viljoen Leary Syndrome |
0 |
|
Woodhouse-Sakati syndrome |
2 |
|
Worster-Drought Syndrome |
1 |
|
X-Linked Intellectual Developmental Disorders + |
724 |
|
Yoon-Bellen neurodevelopmental syndrome |
1 |
|
Young Hughes Syndrome |
0 |
|
ZTTK syndrome |
24 |
|
Zazam Sheriff Phillips Syndrome |
0 |
|
Zechi-Ceide Syndrome |
0 |
|
Zerres Rietschel Majewski Syndrome |
0 |
|
acrodysostosis + |
4 |
|
alacrima, achalasia, and impaired intellectual development syndrome |
49 |
|
alopecia, neurologic defects, and endocrinopathy syndrome |
1 |
|
alopecia-mental retardation syndrome + |
3 |
|
alpha thalassemia-intellectual disability syndrome type 1 |
0 |
|
autosomal dominant intellectual developmental disorder + |
400 |
|
autosomal recessive cutis laxa type III + |
2 |
|
autosomal recessive intellectual developmental disorder + |
280 |
|
autosomal recessive limb-girdle muscular dystrophy type 2P |
23 |
|
autosomal recessive spinocerebellar ataxia 12 |
2 |
|
bilateral perisylvian polymicrogyria + |
8 |
|
blepharophimosis-impaired intellectual development syndrome |
1 |
|
brachycephaly, trichomegaly, and developmental delay |
1 |
|
branched-chain keto acid dehydrogenase kinase deficiency |
33 |
|
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome + |
3 |
|
cerebellofaciodental syndrome |
1 |
|
cerebral cavernous malformation 2 |
2 |
|
cerebral cavernous malformation 3 |
2 |
|
cerebrocostomandibular syndrome |
1 |
|
cerebrooculofacioskeletal syndrome 2 |
2 |
|
cerebrooculofacioskeletal syndrome 4 |
2 |
|
chromosome 13q14 deletion syndrome |
71 |
|
chromosome 15q11.2 deletion syndrome |
24 |
|
chromosome 15q13.3 microdeletion syndrome |
6 |
|
chromosome 15q24 deletion syndrome |
10 |
|
chromosome 15q26-qter deletion syndrome |
14 |
|
chromosome 16p11.2 deletion syndrome, 593-kb |
38 |
|
chromosome 17p13.1 deletion syndrome |
0 |
|
chromosome 17q11.2 deletion syndrome |
1 |
|
chromosome 1q21.1 duplication syndrome |
7 |
|
chromosome 2q31.2 deletion syndrome |
0 |
|
chromosome 3q29 microdeletion syndrome |
21 |
|
chromosome 8q21.11 deletion syndrome |
0 |
|
cleft lip-palate-ectodermal dysplasia syndrome |
1 |
|
congenital disorder of deglycosylation 2 |
2 |
|
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
1 |
|
congenital muscular dystrophy with cataracts and intellectual disability |
1 |
|
corpus callosum agenesis-abnormal genitalia syndrome |
1 |
|
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome + |
2 |
|
deafness-dystonia-optic neuronopathy syndrome |
2 |
|
developmental and epileptic encephalopathy 9 |
27 |
|
dicarboxylic aminoaciduria |
1 |
|
frontonasal dysplasia 3 |
0 |
|
hereditary spastic paraplegia 11 |
10 |
|
hereditary spastic paraplegia 14 |
0 |
|
hereditary spastic paraplegia 18 |
1 |
|
hereditary spastic paraplegia 32 |
0 |
|
hypermethioninemia due to adenosine kinase deficiency |
1 |
|
hypoparathyroidism-retardation-dysmorphism syndrome |
2 |
|
hypotonia-cystinuria syndrome |
4 |
|
intellectual developmental disorder with cardiac arrhythmia |
1 |
|
intellectual developmental disorder with short stature and behavioral abnormalities |
1 |
|
intellectual disability and myopathy syndrome |
1 |
|
isolated cleft palate |
4 |
|
lissencephaly 3 + |
2 |
|
lissencephaly 4 |
2 |
|
mandibulofacial dysostosis, Guion-Almeida type |
1 |
|
megalencephalic leukoencephalopathy with subcortical cysts 2B |
1 |
|
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
1 |
|
multiple benign circumferential skin creases on limbs + |
2 |
|
multiple congenital anomalies-hypotonia-seizures syndrome 3 |
1 |
|
muscular dystrophy-dystroglycanopathy type B1 |
6 |
|
muscular dystrophy-dystroglycanopathy type B14 |
1 |
|
muscular dystrophy-dystroglycanopathy type B2 |
1 |
|
muscular dystrophy-dystroglycanopathy type B3 |
2 |
|
muscular dystrophy-dystroglycanopathy type B6 |
12 |
|
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities |
19 |
|
non-syndromic intellectual disability + |
53 |
|
nonprogressive cerebellar ataxia with mental retardation |
15 |
|
optic atrophy 10 |
1 |
|
parastremmatic dwarfism |
1 |
|
photosensitive trichothiodystrophy 1 |
2 |
|
spastic ataxia + |
81 |
|
spondyloepimetaphyseal dysplasia, Genevieve-type |
2 |
|
spondyloepiphyseal dysplasia tarda with intellectual disability |
0 |
|
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability |
0 |
|
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis |
1 |
|
syndromic intellectual disability + |
680 |
|
temtamy preaxial brachydactyly syndrome |
1 |
|
uveal coloboma-cleft lip and palate-intellectual disability |
1 |
|