Global Variome shared LOVD

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

Phenotype #0000085711 Individual ID 00107960 Associated disease MTDPS13 Phenotype details SGA, FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, White matter abnormalities, Lactate peak in MRS, Feeding difficulties, Inguinal / umbilical hernia, Lactic acidemia, Hyperammonemia , Synophrys, Prominent forehead, Depressed nasal bridge, Upslanted palpebral fissure 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 16:33:19 +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.