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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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Sifrim-Hitz-Weiss syndrome #1279

Closed sbello closed 5 months ago

sbello commented 6 months ago

Sifrim-Hitz-Weiss syndrome OMIM:617159 ORPHA:653712 See PMID:37738575 for the mouse model Gene reviews - https://www.ncbi.nlm.nih.gov/books/NBK561516/

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

Definition An autosomal dominant intellectual developmental disorder characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems that has_material_basis_in an autosomal dominant mutation of the CHD4 gene on chromosome 12p13.31. references: OMIM:617159, PMID:27479907, PMID:27616479, https://www.ncbi.nlm.nih.gov/books/NBK561516/

Parent autosomal dominant intellectual developmental disorder (DOID:0060307)

allenbaron commented 6 months ago

Thanks Sue. I'll work to get this into the next release.