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 InternationalCreative Commons License
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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