Disease #00825

Official abbreviation -
Name mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60)
OMIM ID 300486
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 6
Phenotype entries for this disease 3
Associated with 1 gene OPHN1
Associated tissues -
Disease features -
Remarks -


Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00052110 - - - - - - - - 0 - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) - OPHN1 OPHN1 1 1 Talia Schwartz
00052112 - - - - - - - - 0 - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) psychomotor retardation, epilepsy, craniofacial dysmorphism OPHN1 OPHN1 1 1 Talia Schwartz
00052113 - - - - - - - - 0 - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) - OPHN1 OPHN1 1 1 Talia Schwartz
00052130 - PubMed: Billuart 1998, Journal: Billuart 1998 5-generation family, 4 affected males, 7 unaffected heterozygous carrier females M no France - - 0 - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) - OPHN1 OPHN1 1 4 Johan den Dunnen
00052133 - PubMed: Philip 2003, Journal: Philip 2003 2-generation family, 1 affected M no France - - 0 - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) born at term, pregnancy and delivery uneventful; 2y-psychomotor delay; walk-18m, language severely delayed; 11y-brain CT scan retrocerebellar cyst with tentorial dysplasia, small vermis, dilated ventricles requiring ventriculoperitoneal shunting; 13y-dysmorphic features, deeply set eyes, prominent roof nose, prominent chin, OFC 57.5cm (>97th), weight 63kg (>97th), height 158.5cm (50th), poor reading, writing not acquired; according to parents behavioural problems, instability, intolerance to frustration OPHN1 OPHN1 1 1 Johan den Dunnen
00275940 - - - M - - - 12y - - - MICPCH, mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) pontocerebellar hypoplasia - CASK 1 1 Enza Maria Valente
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