Phenotype #0000172978

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00229771
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	16y (16 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

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