Phenotype #0000050898

Global Variome shared LOVD

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

Individual ID	00064700
Associated disease	ACRDYS2
Phenotype details	mild short stature, small hands, midface hypoplasia, lumbar stenosis; mild developmental disability; congenital hypothyroidism
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Gerard C.P. Schaafsma
Date created	2012-05-03 11:47:58 +02:00 (CEST)
Date last edited	N/A

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