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Ontology Browser

Term:
X-linked mental retardation Gustavson type (DOID:0081123)
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Parent Terms Term With Siblings Child Terms
Deafness +     
optic atrophy +     
visual epilepsy +     
3-methylglutaconic aciduria type 3  
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
Absence of Tibia with Congenital Deafness 
Adams Nance Syndrome 
Al Gazali Khidr Prem Chandran Syndrome 
Al Gazali Sabrinathan Nair Syndrome 
Albinism Deafness Syndrome 
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
Armfield syndrome  
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Arts syndrome  
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant intellectual developmental disorder 6  
autosomal dominant nonsyndromic deafness 65  
Ayazi Syndrome 
Baraitser Rodeck Garner syndrome 
Basilicata-Akhtar syndrome  
Behr syndrome  
Borjeson-Forssman-Lehmann syndrome  
Branchiogenic-Deafness Syndrome 
Burn-McKeown syndrome  
CAPOS Syndrome  
Cardioauditory Syndrome of Sanchez Cascos 
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities  
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
Christianson syndrome  
chromosome 15q13.3 microdeletion syndrome  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, with Vitiligo and Achalasia 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
Congenital Myopathy with Neuropathy and Deafness  
Copper Deficiency, Familial Benign 
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
Coxoauricular Syndrome 
Craniosynostosis 2  
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
Deafness Hyperuricemia Neurologic Ataxia 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY  
Deafness, with Smith-Magenis Syndrome  
deafness-dystonia-optic neuronopathy syndrome  
deafness-intellectual disability, Martin-Probst type syndrome  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
EAST syndrome  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
female-restricted syndromic X-linked intellectual disability 99  
Fine-Lubinsky Syndrome  
Fountain Syndrome 
glaucomatous atrophy of optic disc 
Halperin-Birk syndrome  
Hereditary Optic Atrophies +   
hereditary spastic paraplegia 24 
Herrmann Syndrome 
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hyper-Beta-Alaninemia 
Hyperleucine-Isoleucinemia 
Hyperlipoproteinemia Type II, and Deafness 
hypermethioninemia due to adenosine kinase deficiency  
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Hypokalemic Tubulopathy and Deafness  
hypoparathyroidism-retardation-dysmorphism syndrome  
infantile cerebellar-retinal degeneration  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE  
ITM2B-related cerebral amyloid angiopathy 2  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
Keipert syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
Konigsmark Knox Hussels Syndrome 
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
Lynch Lee Murday syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
MEHMO syndrome  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Mental Retardation, X-Linked, Syndromic, Ube2a-Related 
Methionine Malabsorption Syndrome 
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly Deafness Syndrome 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
microcephaly, seizures, and developmental delay  
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Miles-Carpenter syndrome +   
mitochondrial DNA depletion syndrome 16B  
Muckle-Wells syndrome  
Mullegama-Klein-Martinez syndrome  
Muller Barth Menger Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome +   
multiple synostoses syndrome 1  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
myoclonic-atonic epilepsy  
Myoclonus, Cerebellar Ataxia, and Deafness 
Nathalie Syndrome 
Nephrosis with Deafness and Urinary Tract and Digital Malformations 
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy  
NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonsyndromic deafness +   
Occipital Cortical Malformations  
optic atrophy 10  
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
Opticocochleodentate Degeneration 
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Paganini-Miozzo syndrome  
partial optic atrophy 
Partington syndrome  
PEHO syndrome  
Perniola Krajewska Carnevale Syndrome 
Perrault syndrome +   
PHGDH deficiency  
Prieto syndrome  
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
primary optic atrophy 
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
PSAT deficiency  
Qazi Markouizos syndrome 
Ramos Arroyo Clark Syndrome 
Raynaud-Claes syndrome  
Renpenning syndrome  
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
Seizures, Cortical Blindness, and Microcephaly Syndrome  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Siddiqi syndrome  
Silengo Lerone Pelizza Syndrome 
Sinoatrial Node Dysfunction and Deafness  
Smith-Kingsmore Syndrome  
spastic ataxia +   
spastic paraplegia with deafness 
SPOAN syndrome  
Stocco Dos Santos type X-linked intellectual disability  
syndromic X-linked intellectual developmental disorder 37  
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 33  
syndromic X-linked intellectual disability 34  
syndromic X-linked intellectual disability 35  
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 Hough type  
temtamy preaxial brachydactyly syndrome  
Tietz syndrome  
Tonne-Kalscheuer syndrome  
Tranebjaerg Svejgaard syndrome 
Treft Sanborn Carey Syndrome 
Van Esch-O'Driscoll syndrome  
Warburg micro syndrome +   
White-Sutton syndrome  
Wilson-Turner syndrome  
Wright Dyck Syndrome 
X-linked Aarskog syndrome  
X-linked Alport syndrome  
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  
A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death. (DO)
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance  
X-linked mental retardation-hypotonic facies syndrome-1  
X-linked retinitis pigmentosa and sinorespiratory infections  
Yemenite Deaf-Blind Hypopigmentation Syndrome 

Synonyms
Exact Synonyms: GUST ;   Gustavson syndrome ;   MRXSG ;   Mental retardation X-linked severe Gustavson type ;   Mental retardation with optic atrophy, deafness, and seizures ;   intellectual developmental disorder with optic atrophy, deafness, and seizures ;   intellectual developmental disorder, X-linked syndromic, Gustavson type
Primary IDs: MESH:C536759
Alternate IDs: DOID:9000015 ;   MIM:309555
Xrefs: GARD:5611 ;   ORDO:3078
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/8503440/ "DO" "DO"

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