Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000116431 Individual ID 00143678 Associated disease MTDPS6 Phenotype details Liver dysfunction Liver failure Hepatomegaly Cholestasis Steatosis Developmental delay Hypotonia Microcephaly Lactic acidemia Hypoglycemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) 16% 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 21:34:59 +01:00 (CET) Date last edited 2017-12-04 13:25:59 +01:00 (CET)

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