Global Variome shared LOVD

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

Phenotype #0000172977 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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-04-09 21:34:13 +02:00 (CEST) Date last edited N/A

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