Global Variome shared LOVD

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Phenotype #0000359666 Individual ID 00474873 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., increased nuchal fold at 12/40; hypotonia, tactile issues; CT brain no structural abnormalities reported; global developmental delay; borderline IQ (attends mainstream school with some assistance); some anxiety; no ophthalmologic problems; no hearing loss; submucous cleft palate; bicuspid aortic valve, patent ductus arteriosus (surgical closure); no respiratory problems; poor feeding in newborn period requiring NGT-feeds; chronic constipation; bilateral cryptorchidism; non-functioning right multicystic dysplastic kidney; no hematologic problems; no endocrine problems; Sprengel deformity scapulae, webbed neck; no immunological problems; normal skin; broad forehead, high nasal root, deeply set eyes, periorbital fullness, malar flattening, short philtrum, thin upper and lower lips vermilion, webbed neck, underdeveloped superior crus of ears with left-sided preauricular pit; tapering fingers, single palmar crease on r, small feet, pes planus, overlapping toes Inheritance Isolated (sporadic) Age/Examination 11y (11 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 2026-03-27 14:20:42 +01:00 (CET) Date last edited N/A

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