Global Variome shared LOVD

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Phenotype #0000085709 Individual ID 00107958 Associated disease MTDPS13 Phenotype details SGA, FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, Seizure, Movement disorder, Stroke-like episodes, White matter abnormalities, Cerebral atrophy, Lactate peak in MRS, Strabismus, Optic atrophy, Feeding difficulties, Recurrent infections, Neutropenia, Lactic acidemia, Thick eyebrows, Synophrys, Ptosis 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 16:25:24 +02:00 (CEST) Date last edited 2017-07-30 13:29:23 +02:00 (CEST)

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