Global Variome shared LOVD

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

Phenotype #0000085705 Individual ID 00107955 Associated disease MTDPS13 Phenotype details FTT , Microcephaly, Developmental delay, Hypotonia, Seizure, White matter abnormalities, Cerebral atrophy, Arachnoid cyst, Cardiomyopathy, Congenital heart disease, Pulmonary hypertension, Nystagmus, , Feeding difficulties, Hypospadias, Undescended testis, 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 16:19:39 +02:00 (CEST) Date last edited 2017-07-30 13:29:23 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.