Global Variome shared LOVD

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

Phenotype #0000085688 Individual ID 00107944 Associated disease MTDPS13 Phenotype details SGA, FTT , Microcephaly, Developmental delay, Hypotonia, Seizure, Movement disorder, Nystagmus, Optic atrophy, Feeding difficulties, Liver dysfunction, Recurrent infections, Lactic acidemia, Hyperammonemia , Smooth philtrum, Short palpebral fissures, Epicanthus, Depressed nasal bridge, Narrow forehead, Small feet, Long eyelashes, Small hands 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 15:49:28 +02:00 (CEST) Date last edited 2017-07-30 13:29:23 +02:00 (CEST)

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