Global Variome shared LOVD

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Phenotype #0000319022 Individual ID 00428076 Associated disease NDD Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite - Phenotype details birth weight 3,160 g, length 50 cm, OFC 34 cm; absent speech; delayed gross motor development, spastic tetraparesis; delayed fine motor milestones; intellectual disability; seizures, EEG birth showed pathological electrical activity; no autism; severe hypotonia; MRI brain hypoplastic cerebellar vermis, thin corpus callosum, hypoplastic pons; no failure to thrive; feeding problems, no suckling reflex, G-/J-tubes; no dysmotility; hypoventilation, tracheostomy; cortical blindness; no hearing impairment; epicanthus, upslanting palpebral fissures, broad nasal root, short philtrum, curved upper lip; congenital ostium secundum atrial septal defect; osteopenia 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 2022-12-21 10:47:09 +01:00 (CET) Date last edited N/A

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