Sifrim-Hitz-Weiss syndrome

Term ID

DOID:0070529

Synonyms

• CHD4 Neurodevelopmental Disorder
• CHD4-related neurodevelopmental disorder
• CHD4-related neurodevelopmental syndrome
• SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
• SIHIWES

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. (3)

References

• MIM:617159
• ORDO:653712

Ontology

Human Disease   ( DOID:0070529 )