Disease #07248 (DEDHIL (developmental delay, hypotonia, and impaired language), OMIM:620012)

Official abbreviation	DEDHIL
Name	developmental delay, hypotonia, and impaired language
OMIM ID	620012
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	FBXW7
Associated tissues	-
Disease features	hypotonia (HP:0001252) 22/35, seizures (HP:0001250), abnormality of brain morphology (HP:0012443) 13/17, macrocephaly (HP:0000256) 10/35, neurodevelopmental abnormality (HP:0012759) 34/35, mild-moderate developmental delay or intellectual disability (HP:0011342, HP:0011343, HP:0001256, and HP:0002342) 27/35, abnormal palate or uvula morphology (HP:0000174), (HP:0000172) 10/35, abnormal heart morphology (HP:0001627) 11/35, feeding difficulties (HP:0011968) 16/35
Remarks	-
Date created	2026-03-27 09:28:26 +01:00 (CET)
Date last edited	2026-03-27 10:36:37 +01:00 (CET)

Global Variome shared LOVD