Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 05-09-2018

Symbol	MRD59
Location	6q21
Name	mental retardation, autosomal dominant 59
Corresponding gene	WASF1
Main clinical features	severe ID with autistic features, seizures, and developmental delay midfacial hypoplasia, limited speech with a few or single words; seizures, although these include a range of seizure types, including generalized and focal seizures wide-based gait, poor balance, and hyperactivity of movements: musculoskeletal findings included joint hyperflexibility, ankle valgus, and pes planus
Genetic determination	not applicable
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)