Disease #06104 (HJDD (?Abnormal hair, joint laxity, and developmental delay), OMIM:261990)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Official abbreviation	HJDD
Name	?Abnormal hair, joint laxity, and developmental delay
OMIM ID	261990
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	HEPHL1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-12-10 23:20:41 +01:00 (CET)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.