Global Variome shared LOVD

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Phenotype #0000359680 Individual ID 00474887 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., no prenatal anomalies; hypotonia; macrocephaly; agenesis of corpus callosum; global developmental delay, delay all milestones; moderate intellectual disability; bilateral esotropia/hypermetropia; no hearing loss; high palate; no cardiac problems; no respiratory problems; severe persistent constipation; nephromegaly; no genitourinary problems; no hematologic problems; no endocrine problems; small chest, mild pectus excavatum; no immunological problems; pigmented naevus on lower right buttock; long palpebral fissures which were down slanting with long thick curly eyelashes uptilted nose with a flat tip; low set posterior rotated ears with overfolded helices and prominent inferior and superior crus; jowl- like cheeks and his mouth was small with down turned corners; high palate; fingers short (10th ), broad thumbs, splayed forefeet, 2-3 toe syndactyly; small chest, mild pectus excavatum; small umbilical hernia Inheritance Isolated (sporadic) Age/Examination 15y (15 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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