Phenotype #0000116428

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00143676
Associated disease	MTDPS6
Phenotype details	Liver dysfunction Liver failure Hepatomegaly Cholestasis Developmental delay Hypotonia Microcephaly Lactic acidemia Failure to thrive Feeding difficulties 8% 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 21:21:46 +01:00 (CET)
Date last edited	2017-12-04 13:25:26 +01:00 (CET)

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