Phenotype #0000116432

Individual ID	00143679
Associated disease	MTDPS6
Phenotype details	Liver dysfunction Liver failure Hepatomegaly Cholestasis Developmental delay Hypotonia Microcephaly White matter abnormalities Basal ganglia abnormal signal Lactic acidemia 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 21:39:25 +01:00 (CET)
Date last edited	2017-12-04 13:26:12 +01:00 (CET)

Global Variome shared LOVD