Global Variome shared LOVD

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

Phenotype #0000017346 Individual ID 00019550 Associated disease MLD Phenotype details late infantile, MRI brain pathological; gross motor impairment as first symptom; peripheral neuropathy (HP:0009830) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Onset 01y09m Age/Diagnosis - Phenotype/Onset - Protein 14.6 nmol/mg/h (normal= 121+/-30) Owner name Martina Cesani Database submission license No license selected Created by Martina Cesani Date created 2014-07-31 18:07:46 +02:00 (CEST) Date last edited 2019-07-27 12:41:33 +02:00 (CEST)

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