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Term:
X-Linked Mental Retardation Gustavson Type (DOID:9000015)
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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 
adrenoleukodystrophy +   
Al Gazali Khidr Prem Chandran Syndrome 
Al Gazali Sabrinathan Nair Syndrome 
Albinism Deafness Syndrome 
Alcohol Withdrawal Seizures  
Aldred Syndrome 
Allan-Herndon-Dudley syndrome  
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
alpha thalassemia-X-linked intellectual disability syndrome  
Arena Syndrome 
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Arthrogryposis, Mental Retardation, and Seizures  
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Atkin Syndrome  
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal dominant non-syndromic intellectual disability 6  
autosomal dominant nonsyndromic deafness 65  
Ayazi Syndrome 
Baraitser Rodeck Garner syndrome 
Behr Syndrome  
Branchiogenic-Deafness Syndrome 
Burn-Mckeown Syndrome  
CAPOS Syndrome  
Cardioauditory Syndrome of Sanchez Cascos 
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Charcot-Marie-Tooth disease X-linked recessive 4  
childhood onset epileptic encephalopathy +   
chromosome 15q13.3 microdeletion syndrome  
Chromosome Xp11.3 Deletion Syndrome  
CK Syndrome  
Clark-Baraitser Syndrome 
Classical Lissencephalies and Subcortical Band Heterotopias +   
Coffin-Lowry syndrome  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, and Onychodystrophy, Autosomal Dominant  
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 
Coxoauricular Syndrome 
Craniosynostosis 2  
creatine transporter deficiency  
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Danon disease  
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
DEAFNESS AND MYOPIA  
Deafness Hyperuricemia Neurologic Ataxia 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness, with Smith-Magenis Syndrome  
Deafness, X-Linked 6  
deafness-dystonia-optic neuronopathy syndrome  
developmental delay and seizures with or without movement abnormalities  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES  
EAST syndrome  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Experimental Seizures  
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
FG syndrome  
Fine-Lubinsky Syndrome 
Fountain Syndrome 
fragile X syndrome +   
glaucomatous atrophy of optic disc 
Hereditary Optic Atrophies +   
hereditary spastic paraplegia 24 
Herrmann Syndrome 
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hyper-Beta-Alaninemia 
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hyperleucine-Isoleucinemia 
Hyperlipoproteinemia Type II, and Deafness 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatemia, Polyuria, and Seizures 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Hypomagnesemia, Seizures, and Mental Retardation +   
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypotonia, Seizures, and Precocious Puberty 
Ichthyosiform Erythroderma, Corneal Involvement, Deafness 
infantile cerebellar-retinal degeneration  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
ITM2B-related cerebral amyloid angiopathy 2  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
Keipert Syndrome  
Konigsmark Knox Hussels Syndrome 
Lesch-Nyhan syndrome +   
Lujan Fryns Syndrome  
Lynch Lee Murday syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Menkes disease +   
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation X-Linked, South African Type 
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
MENTAL RETARDATION, X-LINKED 100  
MENTAL RETARDATION, X-LINKED 101  
Mental Retardation, X-Linked 102  
MENTAL RETARDATION, X-LINKED 103  
MENTAL RETARDATION, X-LINKED 104  
MENTAL RETARDATION, X-LINKED 105  
MENTAL RETARDATION, X-LINKED 107  
MENTAL RETARDATION, X-LINKED 108  
Mental Retardation, X-Linked 12  
Mental Retardation, X-Linked 14 
Mental Retardation, X-Linked 19  
Mental Retardation, X-Linked 2 
Mental Retardation, X-Linked 20 
Mental Retardation, X-Linked 21  
Mental Retardation, X-Linked 23 
Mental Retardation, X-Linked 3  
Mental Retardation, X-Linked 31  
Mental Retardation, X-Linked 42 
Mental Retardation, X-Linked 45  
Mental Retardation, X-Linked 46  
Mental Retardation, X-Linked 47  
Mental Retardation, X-Linked 49  
Mental Retardation, X-Linked 50  
Mental Retardation, X-Linked 53 
Mental Retardation, X-Linked 58  
Mental Retardation, X-Linked 61  
Mental Retardation, X-Linked 63  
Mental Retardation, X-Linked 72  
Mental Retardation, X-Linked 73 
Mental Retardation, X-Linked 77 
Mental Retardation, X-Linked 78  
Mental Retardation, X-Linked 81 
Mental Retardation, X-Linked 82 
Mental Retardation, X-Linked 84 
Mental Retardation, X-Linked 88  
Mental Retardation, X-Linked 89  
Mental Retardation, X-Linked 9  
Mental Retardation, X-Linked 91  
Mental Retardation, X-Linked 92  
Mental Retardation, X-Linked 93  
Mental Retardation, X-Linked 95  
Mental Retardation, X-Linked 96  
Mental Retardation, X-Linked 97  
Mental Retardation, X-Linked 98  
Mental Retardation, X-Linked 99 +   
Mental Retardation, X-Linked, 41  
Mental Retardation, X-Linked, 90  
Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related 
Mental Retardation, X-Linked, Syp-Related 
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency  
Mental Retardation, X-Linked, with or without Seizures, Arx-Related  
Mental Retardation, X-Linked, with Panhypopituitarism  
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
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  
Microphthalmia, Syndromic 4  
Muckle-Wells syndrome  
mucopolysaccharidosis II  
Muller Barth Menger Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Multiple Synostoses Syndrome 1  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
Nathalie Syndrome 
Neonatal Severe Encephalopathy due to Mecp2 Mutations  
Nephrosis Deafness Urinary Tract Digital Malformation 
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
non-syndromic X-linked intellectual disability +   
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonsyndromic deafness +   
Occipital Cortical Malformations  
optic atrophy 10  
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 
Opticocochleodentate Degeneration 
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
partial optic atrophy 
Partington syndrome  
PEHO syndrome  
Perniola Krajewska Carnevale Syndrome 
Perrault syndrome +   
PHGDH deficiency  
Plagiocephaly and X-Linked Mental Retardation 
Ppm-X Syndrome 
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
primary optic atrophy 
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
pyruvate decarboxylase deficiency +   
Qazi Markouizos syndrome 
Ramos Arroyo Clark Syndrome 
Rett syndrome +   
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
Roifman Syndrome  
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  
Silengo Lerone Pelizza Syndrome 
Sinoatrial Node Dysfunction and Deafness  
Smith-Kingsmore Syndrome  
spastic ataxia +   
SPOAN syndrome  
Stocco dos Santos Syndrome  
syndromic X-linked intellectual disability +   
syndromic X-linked intellectual disability 5  
temtamy preaxial brachydactyly syndrome  
Tietz syndrome  
Tranebjaerg Svejgaard syndrome 
Treft Sanborn Carey Syndrome 
Warburg micro syndrome +   
Wells Jankovic Syndrome 
White-Sutton syndrome  
Wittwer Syndrome 
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-linked mental retardation 106  
X-Linked Mental Retardation Gustavson Type 
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance  
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
Y-Linked Deafness +   
Yemenite Deaf-Blind Hypopigmentation Syndrome 

Synonyms
Exact Synonyms: GUST ;   Gustavson syndrome ;   Mental retardation X-linked severe Gustavson type ;   Mental retardation with optic atrophy, deafness, and seizures
Primary IDs: MESH:C536759 ;   RDO:0002438
Alternate IDs: OMIM:309555

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.