Disease #07229 (CHOCNS (Chilton-Okur-Chung neurodevelopmental syndrome), OMIM:619841)

Official abbreviation	CHOCNS
Name	Chilton-Okur-Chung neurodevelopmental syndrome
OMIM ID	619841
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	CDC42BPB
Associated tissues	-
Disease features	developmental delay (12/13), intellectual disability (7/13), hypotonia (8/11), autism spectrum disorder (8/12)
Remarks	-
Date created	2026-02-12 19:45:38 +01:00 (CET)
Date last edited	2026-02-18 10:56:41 +01:00 (CET)

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Global Variome shared LOVD