Phenotype #0000172977

Global Variome shared LOVD

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

Individual ID	00229770
Associated disease	MC1DN
Phenotype details	normal skin; no epilepsy; developmental delay/intellectual disability; congenital optic atrophy; short stature; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality
Diagnosis/Initial	MC1DN
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	-
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	<0d
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-04-09 21:34:13 +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.