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Mental Retardation, X-Linked

More information in Books or onNLM PubMed
Definition: A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).     
Examples Adrenoleukodystrophy; Coffin-Lowry Syndrome; Fragile X Syndrome; Glycogen Storage Disease Type IIb; Lesch-Nyhan Syndrome; Menkes Kinky Hair Syndrome; Mucopolysaccharidosis II; Pyruvate Dehydrogenase Complex Deficiency Disease; Rett Syndrome 		Other names X-Linked Mental Retardations; X Linked Mental Retardation Syndromes; X Linked Mental Retardation Disorders; X Linked Mental Retardation; Retardation, X-Linked Mental; Mental Retardation, X Linked; X-Linked Mental Retardation Syndromes; X-Linked Mental Retardation Disorders; X-Linked Mental Retardation
 
SubstanceCAS Registry & nameCategoriesSource
ATR-X syndrome  0   *alpha-Thalassemia *Mental Retardation, X-Linked.
Atkin syndrome  0   *Mental Retardation, X-Linked.
Opitz-Kaveggia syndrome  0   *Anus, Imperforate *Constipation *Muscle Hypotonia/congenital *Mental Retardation, X-Linked *Agenesis of Corpus Callosum. Z Kinderheilkd. 117(1):1-18
Renpenning syndrome 1  0   *Cerebral Palsy *Mental Retardation, X-Linked.
Lujan Fryns syndrome  0   *Marfan Syndrome *Craniofacial Abnormalities *Mental Retardation, X-Linked.
Lubs X-linked mental retardation syndrome  0   *Mental Retardation, X-Linked.
Plagiocephaly and X-linked mental retardation  0   *Craniosynostoses *Mental Retardation, X-Linked.
Stocco dos Santos syndrome  0   *Mental Retardation, X-Linked.
Miles-Carpenter x-linked mental retardation syndrome  0   *Mental Retardation, X-Linked.
Mental retardation-hypotonic facies syndrome, x-linked, 1  0   *Deafness *Growth Disorders *Hypogonadism *Mental Retardation, X-Linked.
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance  0   *Mental Retardation, X-Linked.
Mental retardation, X-linked, nonspecific  0   *Mental Retardation, X-Linked.
Mental retardation, X-linked 14  0   *Mental Retardation, X-Linked.
MEHMO syndrome  0   *Epilepsy *Hypogonadism *Microcephaly *Obesity *Mental Retardation, X-Linked Genitalia/abnormalities.
Mental retardation X-linked, South African type  0   *Mental Retardation, X-Linked.
Mental retardation X-linked syndromic 7  0   *Mental Retardation, X-Linked.
Arena syndrome  0   *Spastic Paraplegia, Hereditary *Mental Retardation, X-Linked.
Siderius X-linked mental retardation syndrome  0   *Mental Retardation, X-Linked.
Orofaciodigital syndrome, Shashi type  0   *Mental Retardation, X-Linked.
Allan-Herndon-Dudley syndrome  0   *Muscle Hypotonia *Muscular Atrophy *Mental Retardation, X-Linked.
Aldred syndrome  0   *Retinitis Pigmentosa *Mental Retardation, X-Linked.
Tranebjaerg Svejgaard syndrome  0   *Psoriasis *Seizures *Mental Retardation, X-Linked.
X-linked mental retardation type Wittwer  0   *Mental Retardation, X-Linked.
X-linked mental retardation Gustavson type  0   *Deafness *Optic Atrophy *Seizures *Mental Retardation, X-Linked.
Wittwer syndrome  0   *Epilepsy *Growth Disorders *Mental Retardation, X-Linked *Deaf-Blind Disorders.
Wilson-Turner X-linked mental retardation syndrome  0   *Obesity *Gynecomastia *Mental Retardation, X-Linked.
Snyder Robinson syndrome  0   *Mental Retardation, X-Linked.
Schimke X-linked mental retardation syndrome  0   *Deafness *Growth Disorders *Microcephaly *Ophthalmoplegia *Mental Retardation, X-Linked.
Borjeson-Forssman-Lehmann syndrome  0   *Epilepsy *Growth Disorders *Hypogonadism *Obesity *Mental Retardation, X-Linked Face/abnormalities Fingers/abnormalities.
Cowchock syndrome  0   *Charcot-Marie-Tooth Disease *Hearing Loss, Sensorineural *Mental Retardation, X-Linked.
Partington X-linked mental retardation syndrome  0   *Ataxia *Seizures *Mental Retardation, X-Linked.
Clark-Baraitser syndrome  0   *Growth Disorders *Hydrocephalus *Obesity *Facies *Mental Retardation, X-Linked.
Hyde Forster Mccarthy Berry syndrome  0   *Craniofacial Abnormalities *Mental Retardation, X-Linked.
Roifman syndrome  0   *Immunologic Deficiency Syndromes *Cardiomyopathies *Osteochondrodysplasias *Retinal Diseases *Mental Retardation, X-Linked.
Mental retardation, X-linked, syndromic 5  0   *Basal Ganglia Diseases *Dandy-Walker Syndrome *Seizures *Mental Retardation, X-Linked.
Creatine deficiency, X-linked  0   *Brain Diseases, Metabolic, Inborn *Mental Retardation, X-Linked Creatine/deficiency Plasma Membrane Neurotransmitter Transport Proteins/deficiency.
Abidi X-linked mental retardation syndrome  0   *Craniofacial Abnormalities *Hearing Loss *Mental Retardation, X-Linked.
Prieto X-linked mental retardation syndrome  0   *Craniofacial Abnormalities *Mental Retardation, X-Linked.
PHF8 protein, human  EC 1.14.11.-   *Transcription Factors *Histone Demethylases Mental Retardation, X-Linked. J Med Genet 2005 Oct;42(10):780-6
ZDHHC15 protein, human  0   *DNA-Binding Proteins Zinc Fingers Mental Retardation, X-Linked. Eur J Hum Genet 2005 Aug;13(8):970-7

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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