Global Variome shared LOVD

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

Phenotype #0000267395 Individual ID 00372066 Associated disease AGS2 Phenotype details HPOTerms: (+) Motor delay,(+) Limb hypertonia,(+) Muscular hypotonia of the trunk,(+) Abnormal CNS myelination,(+) Abnormal myelination // 18 months old, motor developmental delay, unable to sit freely, muscular trunk hypotonia, increased muscle tone of the extremities, increased muscular reflexes, cMRI: myelinisation disorder in the region of the medullary canal, in the internal capsule and in the U-fibres on both sides, temporopolar, social development so far unremarkable Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite 18mo Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-05-06 17:26:40 +02:00 (CEST) Date last edited 2021-05-08 09:06:08 +02:00 (CEST)

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