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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Ataxia +     
epilepsy +     
microcephaly +     
3p deletion syndrome  
46,XX sex reversal 1  
46,XX sex reversal 3 
Abetalipoproteinemia Neuropathy  
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
adult-onset ataxia and polyneuropathy  
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Al-Raqad Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alcohol Withdrawal Seizures  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
alpha thalassemia-X-linked intellectual disability syndrome  
amelogenesis imperfecta type 1E  
Amish Lethal Microcephaly  
Aphalangia Syndactyly Microcephaly 
Arboleda-Tham syndrome  
Armfield syndrome  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arts syndrome  
Asparagine Synthetase Deficiency  
Ataxia with Fasciculations 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
Ataxia, Deafness, and Cardiomyopathy 
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET  
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS  
Ataxia-Microcephaly-Cataract Syndrome 
ataxic cerebral palsy 
Athabaskan brainstem dysgenesis syndrome  
Atonic-Astatic Syndrome of Foerster 
autoimmune epilepsy 
Autosomal Dominant Intellectual Developmental Disorder 60  
autosomal dominant microcephaly +   
autosomal recessive spinocerebellar ataxia 12  
Baetz-Greenwalt Syndrome 
Bangstad Syndrome 
Baraitser-Winter syndrome +   
Baralle-Macken Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
Basilicata-Akhtar syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Behr syndrome  
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 
Beta-Amino Acids, Renal Transport of 
Bhaskar Jagannathan Syndrome 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
Brachydactyly, Type A2, With Microcephaly 
branched-chain keto acid dehydrogenase kinase deficiency  
Branchial Arch Syndrome X-Linked 
Bullous Dystrophy, Hereditary Macular Type 
CAMFAK Syndrome 
CANOMAD Syndrome 
Cardiofacioneurodevelopmental Syndrome  
Carnitine Acetyltransferase Deficiency  
Cataract Ataxia Deafness 
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Charcot-Marie-Tooth disease X-linked dominant 1  
Charcot-Marie-Tooth disease X-linked dominant 6  
CHILD syndrome  
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
Christianson syndrome  
A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. (DO)
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome  
chromosome 17p13.1 deletion syndrome 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB  
chromosome Xp11.23-p11.22 duplication syndrome 
CK syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
COACH syndrome +   
coenzyme Q10 deficiency disease +   
Coffin Syndrome 1 
Coffin-Lowry syndrome  
Cohen syndrome  
congenital disorder of glycosylation type IIm  
congenital fibrosis of the extraocular muscles +   
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital nystagmus 5 
Cornelia de Lange syndrome 2  
Cornelia de Lange syndrome 5  
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
craniofrontonasal syndrome  
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Danon disease  
Deafness Hyperuricemia Neurologic Ataxia 
deafness, dystonia, and cerebral hypomyelination  
deafness-intellectual disability, Martin-Probst type syndrome  
developmental and epileptic encephalopathy 2  
developmental and epileptic encephalopathy 36  
developmental and epileptic encephalopathy 85  
developmental and epileptic encephalopathy 9  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome  
Diaminopentanuria 
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
Diffuse Lewy Body Disease with Gaze Palsy 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Drug Resistant Epilepsy +   
Duane retraction syndrome +   
Dubowitz syndrome  
early-onset epilepsy 2  
early-onset epilepsy 3  
electroclinical syndrome +   
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epilepsy Telangiectasia 
Epilepsy, Occipital Calcifications 
Erythropoietic Protoporphyria, X-Linked Dominant  
extratemporal epilepsy 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
familial isolated deficiency of vitamin E  
Faundes-Banka Syndrome  
Febrile Seizures +   
Feingold syndrome +   
female-restricted syndromic X-linked intellectual disability 99  
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
Filippi syndrome  
Focal Cortical Dysplasia of Taylor +   
focal dermal hypoplasia  
focal epilepsy +   
Forsythe-Wakeling Syndrome 
fragile X syndrome +   
Gait Ataxia +   
Galloway-Mowat syndrome +   
Generalized Epilepsy +   
glaucomatous atrophy of optic disc 
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glycosylphosphatidylinositol Deficiency +   
GOMBO Syndrome 
Gurrieri Sammito Bellussi Syndrome 
Hadziselimovic Syndrome 
Halal Syndrome 
Halperin-Birk Syndrome  
hereditary ataxia +   
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
Hoyeraal Hreidarsson Syndrome  
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypomyelinating leukodystrophy 7  
Hypospadias-Mental Retardation Syndrome 
hypotonia, ataxia, and delayed development syndrome  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
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 Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Intellectual Developmental Disorder with Seizures and Language Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE  
Jorgenson Lenz Syndrome 
Joubert syndrome 3  
Joubert syndrome 5  
Joubert syndrome 6  
Joubert syndrome 7  
Juberg Hayward Syndrome  
Kaufman oculocerebrofacial syndrome  
Kifafa Seizure Disorder 
KINSSHIP syndrome  
Kohlschutter-Tonz syndrome  
Lambotte Syndrome 
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Leukoencephalopathy with Ataxia  
Levator-Medial Rectus Synkinesis 
linear skin defects with multiple congenital anomalies 1  
linear skin defects with multiple congenital anomalies 2  
linear skin defects with multiple congenital anomalies 3  
Lisch epithelial corneal dystrophy 
lissencephaly 3 +   
lissencephaly 4  
lissencephaly 6  
Lowry Wood Syndrome  
MacDermot Winter Syndrome 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
MEHMO syndrome  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, X-Linked, Syndromic, Ube2a-Related 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Deafness Syndrome 
Microcephaly Microphthalmos Blindness 
Microcephaly Nonsyndromal 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Cervical Spine Fusion Anomalies 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly with Simplified Gyral Pattern  
Microcephaly with Spastic Quadriplegia 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
Microcephaly, Epilepsy, and Diabetes Syndrome +   
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
microcephaly, growth deficiency, seizures, and brain malformations  
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +   
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Miles-Carpenter syndrome +   
Miller Fisher syndrome 
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Myopathy, and Ataxia  
Mosaic Variegated Aneuploidy Syndrome 5  
Mosaic Variegated Aneuploidy Syndrome 6  
Mowat-Wilson syndrome  
Mullegama-Klein-Martinez syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Myoclonic Epilepsies +   
Myokymia 1  
Myopathy, Epilepsy, and Progressive Cerebral Atrophy  
Nabais Sa-de Vries Syndrome, Type 1  
Nance-Horan syndrome  
Neu-Laxova syndrome 1  
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT  
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy  
neurodegeneration with brain iron accumulation 5  
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY  
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures  
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
neurodevelopmental disorder with eye movement abnormalities and ataxia  
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities  
neurodevelopmental disorder with hypotonia and speech delay  
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
neurodevelopmental disorder with language delay and seizures  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities  
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS  
NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures  
Neurodevelopmental Disorder with Seizures and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH  
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements  
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM  
Nijmegen Breakage Syndrome-Like Disorder  
non-syndromic X-linked intellectual disability 1  
non-syndromic X-linked intellectual disability 107  
non-syndromic X-linked intellectual disability 19  
non-syndromic X-linked intellectual disability 2 
non-syndromic X-linked intellectual disability 41  
non-syndromic X-linked intellectual disability 63  
non-syndromic X-linked intellectual disability 89 
non-syndromic X-linked intellectual disability 91  
non-syndromic X-linked intellectual disability 98  
nonphotosensitive trichothiodystrophy 5  
Oculopalatocerebral Syndrome 
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME  
ophthalmoplegia +   
Opsoclonus-Myoclonus Syndrome +   
optic atrophy 10  
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
orofaciodigital syndrome I  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
otopalatodigital syndrome type 1  
otopalatodigital syndrome type 2  
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Paganini-Miozzo syndrome  
Paine Syndrome 
Partington Anderson Syndrome 
Partington syndrome  
pathologic nystagmus +   
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
PHARC syndrome  
PHGDH deficiency  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Pitt-Hopkins syndrome +   
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
polyhydramnios, megalencephaly, and symptomatic epilepsy  
porencephaly +   
Post-Traumatic Epilepsy 
Posterior Column Ataxia with Retinitis Pigmentosa  
Prieto syndrome  
primary microcephaly +   
primary ovarian insufficiency 2A  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
progressive myoclonus epilepsy 1B  
PSAT deficiency  
pseudo-TORCH syndrome 1  
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyridoxamine 5'-phosphate oxidase deficiency  
pyridoxine-dependent epilepsy +   
Raine Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramon Syndrome 
Raynaud-Claes syndrome  
Reardon Wilson Cavanagh Syndrome 
reducing body myopathy 1A  
Renpenning syndrome  
Retinal Degeneration and Epilepsy 
Richards-Rundle Syndrome 
Rud Syndrome 
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Sandhaus Ben-Ami Syndrome 
Say Barber Miller Syndrome 
Say Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
Seizures, Cortical Blindness, and Microcephaly Syndrome  
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Sensory Ataxia, Autosomal Dominant 
Setting-Sun Phenomenon, Familial Benign 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Silengo Lerone Pelizza Syndrome 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
spastic tetraplegia, thin corpus callosum, and progressive microcephaly  
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Spinocerebellar Ataxia with Epilepsy  
Spinocerebellar Ataxias +   
spondyloepimetaphyseal dysplasia, Genevieve-type  
status epilepticus +   
Stocco Dos Santos type X-linked intellectual disability  
strabismus +   
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Stromme syndrome  
syndromic microphthalmia 13  
syndromic microphthalmia 2  
syndromic microphthalmia 8 
syndromic X-linked intellectual developmental disorder Bain type  
syndromic X-linked intellectual disability 12 
syndromic X-linked intellectual disability 14  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 34  
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability 7 
syndromic X-linked intellectual disability 94  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Chudley-Schwartz type 
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Hedera type  
syndromic X-linked intellectual disability Lubs type  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Nascimento type  
syndromic X-linked intellectual disability Pilorge type  
syndromic X-linked intellectual disability Raymond type  
syndromic X-linked intellectual disability Shashi type  
syndromic X-linked intellectual disability Shrimpton type 
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
syndromic X-linked intellectual disability type 10  
syndromic X-linked intellectual disorder Lujan-Fryns-type  
Syndromic X-Linked Mental Retardation 33  
syndromic X-linked mental retardation 35  
syndromic X-linked mental retardation Hough type  
Tapetoretinal Degeneration with Ataxia 
Teebi Kaurah Syndrome 
Tessadori-van Haaften Neurodevelopmental Syndrome 1  
third cranial nerve disease +   
Tolosa-Hunt syndrome +  
Tonne-Kalscheuer syndrome  
Total Anonychia with Microcephaly 
Treft Sanborn Carey Syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 
Trichodental Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome  
Van Esch-O'Driscoll syndrome  
visual epilepsy +   
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome  
Webb-Dattani Syndrome  
Wiedemann-Steiner syndrome  
Wilson-Turner syndrome  
Winship Viljoen Leary Syndrome 
Wittwer Syndrome  
X-linked Aarskog syndrome  
X-linked Alport syndrome  
X-linked chondrodysplasia punctata 2 +   
X-linked dominant hypophosphatemic rickets  
X-linked endothelial corneal dystrophy 
X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features  
X-linked epilepsy with variable learning disabilities and behavior disorders  
X-linked intellectual developmental disorder 108  
X-linked intellectual developmental disorder 109  
X-Linked Intellectual Developmental Disorder 110  
X-Linked Intellectual Developmental Disorder 112  
X-Linked Intellectual Developmental Disorder 113  
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome  
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-linked intellectual disability-short stature-overweight syndrome  
X-linked mental retardation Gustavson type  
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance  
X-linked mental retardation-hypotonic facies syndrome-1  
Zaki syndrome  
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: ANGELMAN SYNDROME-LIKE ;   Angelman-Like Syndrome, X-Linked ;   MRXSCH ;   Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome ;   X-linked intellectual deficit, South African type ;   X-linked intellectual disability, South African type ;   X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome ;   syndromic X-linked intellectual developmental disorder, Christianson type ;   syndromic X-linked mental retardation, Christianson type
Primary IDs: MESH:C567484
Alternate IDs: MESH:C537450 ;   OMIM:300243
Xrefs: GARD:10572 ;   NCI:C181001 ;   ORDO:85278
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/18342287 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20949524 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25044251 "DO" "DO"

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