Disease #06993 (NEDCHF (neurodevelopmental disorder with central hypotonia and dysmorphic facies), OMIM:619797)

Official abbreviation	NEDCHF
Name	neurodevelopmental disorder with central hypotonia and dysmorphic facies
OMIM ID	619797
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	HDAC4
Associated tissues	-
Disease features	round face, frontal bossing, deep-set eyes, up-slanting palpebral fissures, broad nose, depressed nasal bridge, anteverted nares, thin upper lip; no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); self-injurious behaviour, sleeping difficulties, congenital heart anomalies, X-ray features of brachydactyly type E
Remarks	-
Date created	2023-01-03 20:41:32 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD