Global Variome shared LOVD

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

Phenotype #0000298279 Individual ID 00405782 Associated disease MRXSCJ Phenotype details Short stature (HP:0004322), Global developmental delay (HP:0001263), Intellectual disability, severe HP:0010864, Bilateral tonic-clonic seizure HP:0002069, Hyperreflexia HP:0001347, Sleep disturbance HP:0002360, Attention deficit hyperactivity disorder HP:0007018, Mood swings HP:0000720, Aggressive behavior HP:0000718, Severe temper tantrums HP:0025162 Diagnosis/Initial - Inheritance Familial, X-linked Diagnosis/Definite - Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Emanuela Leonardi Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Emanuela Leonardi Date created 2022-03-22 12:34:32 +01:00 (CET) Date last edited 2022-03-28 11:42:55 +02:00 (CEST)

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