Houge-Janssens syndrome 1

Definition

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

Also known as autosomal dominant intellectual disability 35, intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome, intellectual disability, autosomal dominant type 35, mental retardation, autosomal dominant type 35, MRD35 — per MONDO

Also identified as

• DOID 0070065 per MONDO
• OMIM 616355 per MONDO
• Orphanet 457279 per MONDO
• UMLS C5779996 per MONDO