Global Variome shared LOVD

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Phenotype #0000350482 Individual ID 00464453 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRXSCH Inheritance Familial, X-linked recessive Phenotype details see paper; ..., profound intellectual disability; autistic behaviour; no microcephaly (54cm); no mutism; incontinence; epilepsy; ophthalmoplegia; truncal ataxia; no non-ambulatory; late ambulation; no adducted thumbs; dystonia; no maladaptive behaviour; no hand-wringing; no hemiparesis; no Angelman-like syndrome; long, narrow face; no large ears; square, prognathic jaw; long, aquiline nose Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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