encyclopedia of medical concepts
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Mental Retardation, X-Linked
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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
Substance
CAS Registry & name
Categories
Source
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