Phenotype #0000350479

Individual ID 00464450
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRXSCH
Inheritance Familial, X-linked recessive
Phenotype details see paper; ..., 47y-deceased; profound intellectual disability; autistic behaviour; microcephaly (53cm); mutism; incontinence; epilepsy; ophthalmoplegia; truncal ataxia; no non-ambulatory; late ambulation; no adducted thumbs; dystonia; maladaptive behaviour; hand-wringing; hemiparesis; no Angelman-like syndrome; no long, narrow face; no large ears; no square, prognathic jaw; no long, aquiline nose
Age/Examination 47y (47 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-03-17 10:15:27 +01:00 (CET)
Date last edited N/A

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