Global Variome shared LOVD

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Phenotype #0000051377 Individual ID 00065271 Associated disease ? Diagnosis/Initial Intra-mitochondrial Methylation Deficiency Diagnosis/Definite - Phenotype details pulmonary hypertension (HP:0002092), lactic acidosis (HP:0003128), slight interstitial oedema (HP:0000969), pulmonary hypertension (HP:0002092), enlarged right ventricle (HP:0001707), prominent lung artery (HP:0004414), reduced ATP production, slight global developmental delay (HP:0001263) Inheritance Familial, autosomal recessive Age/Examination >00y01m (later than 1 month) Age/Diagnosis - Age/Onset 00y01m Phenotype/Onset 01m Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-05-25 11:45:57 +02:00 (CEST) Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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