Global Variome shared LOVD

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Phenotype #0000355463 Individual ID 00470314 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., birth 36w; mild feeding difficulties neonatal period; no muscular hypotonia; develomental delay, intellectual disability; autistic behavior, attention-deficit/hyperactivity disorder; no eye anomalies; no urogenital anomalies; hypotelorism, thin lips, broad nose, upslanting palpebral fissures.; atrial septum defect; slanting shoulders. single palmar crease, fetal finger pads, long slender fingers, proximal insertion of the thumbs. sandal gap. valgus feet, lack of 9 teeth, recurrent otitis media Inheritance Unknown 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 2025-11-30 13:31:50 +01:00 (CET) Date last edited N/A

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