Global Variome shared LOVD

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Phenotype #0000242675 Individual ID 00324094 Associated disease NDD Diagnosis/Initial developmental delay/intellectual disability Diagnosis/Definite - Phenotype details developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; no behavioral problems; no sleep disturbance; hypotonia; no oral motor hypotonia; feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; no chronic constipation; no horseshoe kidney; no cryptorchidism; no hypospadias; no joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; poor weight gain; no failure to thrive Inheritance Isolated (sporadic) Age/Examination 9m 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 2020-11-30 17:48:48 +01:00 (CET) Date last edited N/A

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