Phenotype #0000116431

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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)