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GENATLAS PHENOTYPE

last update : 21-03-2015

Symbol	MOPD5
Location	5q14.2
Name	microcephalic osteodysplastic primordial dwarfism, type 5
Other name(s)	Short stature, microcephaly, and endocrine dysfunction
Corresponding gene	XRCC4
Other symbol(s)	SSMED
Main clinical features	disproportionate-short-stature syndrome postnatal growth retardation, microcephaly was present at birth, becoming more evident postnatally profound global developmental delay with microcephalic dwarfism, with onychodysplasia, facial dysmorphism, and hypotrichosis severe postnatal growth failure, microcephaly, gonadal failure, metabolic syndrome and possibly tumor predisposition ( PMID: 25742519)) osteopenia, strikingly hypoplastic epiphyses most notably in the proximal humerus and femur endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	osteo-articular
Type	disease

Remark(s)

after irradiation, XRCC4-mutated cells exhibited impaired survival with hypersensitivity to IR (PMID: 25728776))