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

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Individual ID     
0000038751 - - - Unknown - - - - - - Talia Schwartz 00052110
0000038752 - - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00052130
0000038755 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 - - Isolated (sporadic) 13y - - - - - Johan den Dunnen 00052133
0000232892 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. - - Familial, X-linked recessive 18y - - - - - Sara Nuovo 00307050
0000232893 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. - - Familial, X-linked recessive 17y - - - - - Sara Nuovo 00307068
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