Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 16-03-2015

Symbol	MRT48
Location	1p13.3
Name	mental retardation, autosomal recessive 48
Corresponding gene	SLC6A17
Main clinical features	moderate to severe intellectual disability and additional phenotypes including progressive tremor, speech impairment, and behavioral problems in certain individuals motor development might also be severely impaired, possibly inhibiting independent walking
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)