Global Variome shared LOVD

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Phenotype #0000172889 Individual ID 00180280 Associated disease MC1DN Phenotype details normal skeletal muscle; normal skin; MRI-brain mild cerebral atrophy; no epilepsy; developmental delay/intellectual disability; optic atrophy; short stature; persistent leukopenia and microcytic anemia; lactic acidosis (CSF lactate 3.1 mmol/l (normal <2.1 mmol/l)); hypertrophic cardiomyopathy; joint contractures, non-progressive mild hearing impairment Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset >00y00m01d Phenotype/Onset 03y-04y Protein - Owner name Sander Pajusalu Database submission license Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2019-04-09 08:06:36 +02:00 (CEST) Date last edited 2019-04-09 20:58:51 +02:00 (CEST)

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