Global Variome shared LOVD

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Phenotype #0000355471 Individual ID 00470322 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., no feeding difficulties; develomental delay, intellectual disability; no brain anomalies; bilateral ptosis, hyperopic astigmatism; facial dysmorphism; dysmorphic features (bilateral ear tags, unfurled ears with deficient helices, and narrow palpebral fissures), eye anomalies (bilateral ptosis, hyperopic astigmatism), and limb anomalies (hammertoes and camptodactyly bilaterally). Inheritance Isolated (sporadic) Age/Examination 19y (19 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 2025-11-30 13:31:50 +01:00 (CET) Date last edited N/A

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