Global Variome shared LOVD

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Phenotype #0000296384 Individual ID 00403689 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite DENNED Phenotype details birth 40w, weight 3955g (SD+1.15), length 50cm (SD+0.20), OFC 35cm (SD+0.11); 6y weight 20kg (SD+0.5), length 97cm (SD-1.5), OFC 48cm (SD-2); microcephaly, large mouth, small widely spaced teeth; no hearing loss; no congenital heart defect; ocular cataracts, hyperopia, astigmatism; severe psychomotor developmental delay; head control normal; 16m-sit; 29m-walk; severe speech delay; severe developmental delay/intellectual disability;  ; no hypertonia; axial hypotonia; no nystagmus; stereotypies; restless, communication disorders, intolerance to frustration; no epilepsy; 17m-MRI brain normal Inheritance Familial, autosomal recessive Age/Examination 06y (6 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 2022-02-20 16:20:51 +01:00 (CET) Date last edited 2024-11-08 11:21:04 +01:00 (CET)

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