Global Variome shared LOVD

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Phenotype #0000085696 Individual ID 00107952 Associated disease MTDPS13 Phenotype details Developmental delay, Hypotonia, Seizure, Movement disorder, White matter abnormalities, Cerebral atrophy, Basal ganglia abnormalities , Thin corpus callosum, Cerebellar hypoplasia, Arachnoid cyst, Brain stem atrophy, Lactate peak in MRS, Cardiomyopathy, Congenital heart disease, Nystagmus, Strabismus, Optic atrophy, Feeding difficulties, Inguinal / umbilical hernia, Undescended testis, Recurrent infections, Lactic acidemia, Hyperammonemia , Broad nasal bridge, Low set ears, Synophrys, Epicanthus, Long philtrum, Depressed nasal bridge, Narrow forehead, Long eyelashes 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 15:54:27 +02:00 (CEST) Date last edited 2017-07-30 13:29:23 +02:00 (CEST)

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