Global Variome shared LOVD

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Phenotype #0000356900 Individual ID 00472091 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRXSSD Phenotype details see paper; ..., macrocephaly; hypertelosism; low set ears; no ear posteriror rotation; broad nasal tip; long face; no cleft lip, no cleft palate; high-arched palate; no retrognathia; autism spectrum disorder, aggressive; developmental dealy; speech delay; severe intellectual disability; neonatal hypotonia; psychomotor developmental delay; gross motor delay; fine motor delay; no seizures Inheritance Isolated (sporadic) Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-01-08 09:31:31 +01:00 (CET) Date last edited N/A

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