Global Variome shared LOVD

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

Phenotype #0000085716 Individual ID 00107965 Associated disease MTDPS13 Phenotype details White matter abnormalities, Cerebral atrophy, Cerebellar hypoplasia, Hydrocephalus/ dilated ventricles, Feeding difficulties, Undescended testis, Recurrent infections, Lactic acidemia, Broad nasal bridge, Low set ears, Prominent forehead, Hypertelorism, Depressed nasal bridge, High arched palate, Thin vermilion of upper lip, Wide nasal base, Long eyelashes, Broad forehead 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 18:37:25 +02:00 (CEST) Date last edited 2017-07-30 13:29:23 +02:00 (CEST)

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