Global Variome shared LOVD

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Phenotype #0000239650 Individual ID 00315904 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite GAND Phenotype details birth 40w; birth weight 3100g, length 50cm, OFC 37.5cm; weight 1 SD, height −1 SD, OFC +3.5 SD; no neonatal hypotonia; motor delay; 24m-walk; speech delay; severe intellectual deficiency; no behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; no vision disorder; no strabismus; MRI brain no abnormalities, no white matter signal, no myelination delay, no ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes; no hypertelorism; no periorbital fullness; ear anomalies; large/prominent nose; no tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; downturned mouth; no thin upper lip; no blond hair; thin hair; no hands/feet anomalies; no long fingers; no clinodactyly Inheritance Isolated (sporadic) Age/Examination 28y (28 years) Age/Diagnosis 30y 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 2020-10-30 10:06:36 +01:00 (CET) Date last edited N/A

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