Global Variome shared LOVD

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Phenotype #0000332710 Individual ID 00443368 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth at term, weight 3.2 kg (33th), height 51 cm (62nd), ; weight 30 kg (74th), height 122 cm (16th), ; moderate-severe global developmental delay/intellectual disability; single words; sit independently; able to walk; no spasticity; no cerebellar ataxia; normal gait; no tremor; no head tremor; 6m-seizures, suspected partial; no aggression; no self-injury; no tantrum temper; no sleep disturbance; no coarse face; no deep set eyes; no lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; no thin upper lip; no everted lower lip; no prognathia; Poor vision; Inheritance Familial, autosomal recessive Age/Examination 8y (8 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 2023-11-25 19:15:23 +01:00 (CET) Date last edited N/A

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