Phenotype #0000116427

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00143675
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	-
Protein	-
Owner name	Hongzheng Dai
Database submission license	No license selected
Created by	Hongzheng Dai
Date created	2017-12-01 21:15:48 +01:00 (CET)
Date last edited	2017-12-04 13:25:03 +01:00 (CET)