Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000085715 Individual ID 00107964 Associated disease MTDPS13 Phenotype details White matter abnormalities, Cerebral atrophy, Hydrocephalus/ dilated ventricles, Brain stem atrophy, Enlarged cisterna magna, Feeding difficulties, Liver dysfunction, Undescended testis, Recurrent infections, Lactic acidemia, Hyperammonemia 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 18:34:43 +02:00 (CEST) Date last edited 2017-07-30 13:29:23 +02:00 (CEST)

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