/Hogue-Janssens syndrome 1

Hogue-Janssens syndrome 1

Rare Disease

MONDO:0014602

Also Known As

MRD35autosomal dominant intellectual disability 35autosomal dominant mental retardation 35intellectual disability, autosomal dominant type 35intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromemental retardation, autosomal dominant type 35autosomal dominant non-syndromic intellectual disability 35intellectual disability, autosomal dominant 35mental retardation, autosomal dominant 35

Definition

An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.