Term Name: | Sifrim-Hitz-Weiss syndrome |
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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 ) |