has material basis in germline mutation in CHD4 hereditary disease Sifrim-Hitz-Weiss syndrome https://github.com/monarch-initiative/mondo/issues/8963 https://www.malacards.org/card/sifrim_hitz_weiss_syndrome UMLS:C4310688 MONDO:0014946 OMIM:617159 Sifrim-Hitz-Weiss syndrome Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome Orphanet:653712 GARD:0025038 SIHIWES MEDGEN:934655 CHD4-related neurodevelopmental disorder A rare multiple congenital anomalies/dysmorphic syndrome due to CHD4 gene mutations. It is characterized by developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence). Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and opthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and hypogonadism (only in males). Sifrim-Hitz-Weiss syndrome; SIHIWES DOID:0070529