Term Name: Sifrim-Hitz-Weiss syndrome
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.
Ontology: Human Disease [DOID:0070529]   ( DOID:0070529 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder