Global Variome shared LOVD

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Phenotype #0000337096 Individual ID 00447904 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details weight <3rd (6.72 kg), height <3rd (65 cm), OFC 3rd-5th; developmental delay/intellectual disability; no hypotonia; no seizures; no ophthalmologic features; dysmorphic features, midface hypoplasia; normal hands/feet; normal back/spine; rhizomelia; no heart defects; no genital abnormalities; gastroesophogeal reflux disease; laryngomalacia; eczema; father low weight (111 lb, 5′6″), short digits, poor dentition, Asperger-like features, recurrent fevers Inheritance Isolated (sporadic) Age/Examination 10m 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 2024-01-31 22:02:27 +01:00 (CET) Date last edited N/A

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