Global Variome shared LOVD

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Phenotype #0000296514 Individual ID 00403834 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details normal pregnancy and birth, birth 40w, weight 3400g; weight 20 kg (3rd percentile), height 114 cm (< 3rd percentile), OFC 50 cm (3rd percentile); delayed motor development; 1y-sit; 3y-walk; after 4y-speech, 8y-single words; no regression; moderate intellectual disability; IQ not assessable; autism; fearful; no hypotonia; no ataxia, clumsiness; normal reflexes; 6y5m-epilepsy, 7y-GTCS/seizure fre; EEG normal; normal sleep; MRI brain normal; normal vision; no hearing loss; normal skin; dysmorphism; downslanting, epicanthus; short nose; smooth philtrum; small mouth; no joint laxity; no skeletal problems; normal hands/feet; 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 2022-02-24 15:46:26 +01:00 (CET) Date last edited N/A

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