Global Variome shared LOVD

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Phenotype #0000267863 Individual ID 00372549 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures (onset at 9 months, treatment-resistant); Hypotonia, dystonia; Nystagmus; MRI brain hypoplasia of the corpus callosum, brain atrophy; microcephaly; Large nose with bulbous nasal tip and low hanging columella; Smooth philtrum; Thin upper lip; Widely spaced teeth; -; no mesomelic dysplasia; Scoliosis; no osteopenia; horseshoe kidney; Constipation; failure to thrive; no respiratory problems Inheritance Isolated (sporadic) Age/Examination 09y (9 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 14:57:22 +02:00 (CEST) Date last edited N/A

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