Global Variome shared LOVD

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Phenotype #0000116435 Individual ID 00143682 Associated disease MTDPS6 Phenotype details Liver dysfunction Hepatomegaly Cholestasis Steatosis Developmental delay Lactic acidemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) Low CI Low CIII Low CIv 3% mtDNA in liver Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Hongzheng Dai Database submission license No license selected Created by Hongzheng Dai Date created 2017-12-01 21:52:52 +01:00 (CET) Date last edited 2017-12-04 13:27:04 +01:00 (CET)

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