Disease #00825 (mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60), OMIM:300486)

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 8
Phenotype entries for this disease 5
Associated with 1 gene OPHN1
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Remarks -


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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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
00307050 - - - M yes - - - - - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) Uneventful pregnancy and delivery. Birth weight: 3650 g, birth length: 52 cm, birth head circumference: 34 cm. Neurodevelopmental delay (head control at 6 months, sitting at 10 months, walking unaided at 17 months, first sentences at 4 years) . At school age, poor educational achievement and hyperactive behavior, requiring treatment with methylphenidate. Moderate intellectual disability (full scale IQ 49 on WISC scale). At last follow-up (18.5 years of age) strabismus and mild motor dyspraxia, with no signs of ataxia or pyramidal deficit. Facial dysmorphisms (including long face with prominent forehead, hypothelorism, deep-set eyes, large ears, long and tubular nose, short philtrum, thin upper lip and prominent chin). Symmetrical enlargement of lateral ventricles, cerebellar hypoplasia (mainly affecting the vermis) and inferior vermian dysplasia on brain MRI, with no signs of neuroradiological progression. - OPHN1 1 1 Sara Nuovo
00307068 - - - M - Italy - - - - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) Uneventful pregnancy and delivery. Developmental delay with prevalent impairment of language skills. Macrocephaly (>97°), slight dysmorphic features (including prominent auricle, thin upper lip, fleshy lower lip, and thinning of the inner third of the eyebrows). Autistic traits, hyperactivity, severe-moderate intellectual disability (IQ 41 with a severe impairment of adaptive skills) and oral dyspraxia. Generalized epilepsy (EEG detecting active multifocal abnormalities), treated with valproic acid. Cerebellar vermis hypoplasia and thin corpus callosum on brain MRI. - OPHN1 1 1 Sara Nuovo
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