Disease #04348 (CHOPS (CHOPS syndrome), OMIM:616368)

Official abbreviation	CHOPS
Name	CHOPS syndrome
OMIM ID	616368
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	AFF4
Associated tissues	-
Disease features	arched eyebrows, synophrys, long eyelashes, and upturned nasal tip in younger patients and coarsening face in older children; global developmental delay (HP:0001263); intellectual disability (HP:0001249); no seizure (-HP:0001250); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); heart anomalies (patent ductus arteriosus and ventricular septal defect), pulmonary and respiratory tract involvement, and skeletal dysplasia with abnormal vertebral shape
Remarks	-
Date created	2015-09-23 10:25:22 +02:00 (CEST)
Date last edited	2023-01-03 20:39:08 +01:00 (CET)

Global Variome shared LOVD