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Summary
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (HOD)
618541
OMIM = Online Medalian Inheritance of Men
16p13.3
very rare (3 patients)
autosomal dominant
mutation in the CLCN7 gene
symptoms
cerebellar atrophy or hypoplasia
hearing defect, deafness
hepatomegaly (large liver)
hypopigmentation
hypotonia
intrauterine growth retardation
motor retardation
nephromegaly
polyhydramnion (maternal)
prematurity, premature delivery
short stature
shortening of long bones
skeletal changes, skeletal abnormalities
splenomegaly (large spleen)
laboratory finding
Literature
Deeb A,Al-Zidgali F, Ofoegbu BNMulticystic dysplastic kidney: a new association of Wolcott-Rallison syndromeEndocrinol Diabetes Metab Case Rep002017
Al-Aama JY,et al.Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi ArabiaCongenit Anom (Kyoto)58139-402018