Disease #00614

Official abbreviation -
Name mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
OMIM ID 613443
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene MEF2C
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Disease features -
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Individuals

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00052132 - PubMed: Philip 2003, Journal: Philip 2003 3-generation family, 4 affected males, 2 mildly affected heterozygous carrier females M no France - - 0 - - mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations see paper (other patients); born at term, uneventful pregnancy, birth weight 3450g (50th), birth length 51cm (50th), OFC 36.5cm (90th); 9m-febrile seizures, generalised hypotonia, developmental delay; 11m-sit; 18y-weight 105kg, height 1.82m, OFC 60cm (>98th), facial appearance slightly dysmorphic, deeply set eyes, prominent chin; neurological examination normal, significantly mentally retarded, no autonomy (IQ 46), no reading; MRI-large ventricles without hydrocephalus, blunted appearance angle lateral ventricles, large cisterna magna without abnormality tentorium; female carriers mildly affected OPHN1 OPHN1 1 6 Johan den Dunnen
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