Phenotype #0000085687

Individual ID	00107943
Associated disease	MTDPS13
Phenotype details	FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, Seizure, Movement disorder, Ataxia, White matter abnormalities, Cerebral atrophy, Peri/paraventricualr cysts, Thin corpus callosum, Cerebellar hypoplasia, Brain stem atrophy, Feeding difficulties, Lactic acidemia, Hyperammonemia , Depressed nasal bridge, Small feet
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	2017-07-20 15:33:38 +02:00 (CEST)
Date last edited	2017-07-30 13:29:23 +02:00 (CEST)

Global Variome shared LOVD