Global Variome shared LOVD

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Phenotype #0000267861 Individual ID 00372547 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details severe developmental delay/intellectual disability; no epilepsy; Hypotonia; normal vision, normal hearing; MRI brain Dandy-Walker; microcephaly; Bulbous nasal tip and prominent columella; normal philtrum; Open mouth; no teeth and gum abnormalities; Micrognathia; synophrys, hypertrichosis; Maxillary protrusion; no mesomelic dysplasia; arms and legs limited flexion (wrist), hyperextension (elbows); Bilateral pes valgus; horseshoe kidney; Constipation; failure to thrive; no respiratory problems Inheritance Isolated (sporadic) Age/Examination 07y (7 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 2021-05-09 14:46:01 +02:00 (CEST) Date last edited N/A

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