Global Variome shared LOVD

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

Phenotype #0000223347 Individual ID 00295870 Associated disease HMNDYT2 Diagnosis/Initial 4 limbs spastic cerebral palsy,Neuroferritinopathy Diagnosis/Definite Hypermanganesemia Phenotype details increased muscle tone,microcephaly,global developmental delay,profound physical disability. Inheritance Familial, autosomal recessive Age/Examination 01y (1 year) Age/Diagnosis 05y Age/Onset 00y08m Phenotype/Onset increased muscle tone Owner name Adel ZEeglam Database submission license No license selected Created by Adel ZEeglam Date created 2020-03-29 20:25:55 +02:00 (CEST) Date last edited 2020-03-30 03:01:10 +02:00 (CEST)

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