Phenotype #0000172979

Individual ID 00229772
Associated disease MC1DN
Phenotype details myopathy; normal skin; epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality; single kidney, pulmonary stenosis, congenial inguinal hernia
Diagnosis/Initial MC1DN
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 8y (8 years)
Age/Diagnosis -
Age/Onset <0d
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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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