HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (HOD)

Question 1

What is  HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (HOD)?

Accepted Answer

very rare (3 patients)

autosomal dominant

mutation in the CLCN7 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618541

Disease	HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (HOD)
OMIM	618541 OMIM = Online Mendelian Inheritance of Men
Gene locus	16p13.3
ICD
Summary	very rare (3 patients) autosomal dominant mutation in the CLCN7 gene
Laboratory findings
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)