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Houge-Janssens Syndrome 1 (MONDO:0014602)

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

Overview

Category

syndromic disease

nervous system disorder

Ontology ID

MONDO:0014602

Internal:15600

Synonyms

MRD35

autosomal dominant intellectual disability 35

intellectual disability, autosomal dominant type 35

intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

mental retardation, autosomal dominant type 35

autosomal dominant non-syndromic intellectual disability 35

intellectual disability, autosomal dominant 35

mental retardation, autosomal dominant 35

Mapped terms

DOID:0070065

GARD:0017802

MEDGEN:1830493

OMIM:616355

Orphanet:457279

UMLS:C5779996

Child terms

Unknown children.

Results

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