Global Variome shared LOVD

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

Phenotype #0000085697 Individual ID 00107953 Associated disease MTDPS13 Phenotype details FTT , Short stature, Developmental delay, Hypotonia, Peri/paraventricualr cysts, Enlarged cisterna magna, Congenital heart disease, Arrhythmia, Feeding difficulties, Inguinal / umbilical hernia, 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 15:58:58 +02:00 (CEST) Date last edited 2017-07-30 13:29:23 +02:00 (CEST)

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