Global Variome shared LOVD

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

Phenotype #0000116426 Individual ID 00143674 Associated disease MTDPS6 Phenotype details Liver dysfunction Liver failure Hepatomegaly Cholestasis Steatosis Liver cirrhosis Developmental delay Hypotonia Microcephaly Retinopathy Lactic acidemia Hypoglycemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset 1m Protein - Owner name Hongzheng Dai Database submission license No license selected Created by Hongzheng Dai Date created 2017-12-01 20:59:28 +01:00 (CET) Date last edited 2017-12-04 13:24:46 +01:00 (CET)

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