Global Variome shared LOVD

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Phenotype #0000267888 Individual ID 00372575 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details birth 40w, length 53.3 cm/90th, weight 3,200 g/33rd; OFC 26th centile; None; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 18m-sitting; 5y-walking; no toilet trained; swallowing difficulties; no autism spectrum disorder; impulse control; involuntary movements; strabismus; no seizures; corpus callosum agenesis; cerebellar hypoplasia; no hydrocephaly; short stature; no scoliosis; no heart defect; no abnormal genitalia Inheritance Isolated (sporadic) Age/Examination 5y (5 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 2021-05-10 09:29:40 +02:00 (CEST) Date last edited N/A

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