Sifrim-Hitz-Weiss syndrome (DOID:0070529)
Alliance: disease page
Synonyms: CHD4 Neurodevelopmental Disorder; CHD4-related neurodevelopmental disorder; CHD4-related neurodevelopmental syndrome; SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME; SIHIWES
Alt IDs: OMIM:617159, ORDO:653712
Definition: An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31.