Phenotype #0000085714

Individual ID	00107963
Associated disease	MTDPS13
Phenotype details	White matter abnormalities, Peri/paraventricualr cysts, Thin corpus callosum, Cerebellar hypoplasia, Hydrocephalus/ dilated ventricles, Strabismus, Feeding difficulties, Lactic acidemia, Hyperammonemia , Epicanthus, Long philtrum, Prominent forehead, Depressed nasal bridge, Plagiocephaly, Small feet, Thin vermilion of upper lip, Wide nasal base, Long eyelashes, Broad forehead, Small hands
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 18:30:59 +02:00 (CEST)
Date last edited	2017-07-30 13:29:23 +02:00 (CEST)

Global Variome shared LOVD