Global Variome shared LOVD

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Phenotype #0000359667 Individual ID 00474874 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., suspicion of preeclampsia; hypotonia; neonatal sucking difficulties; delayed motor milestones, 18m-crawl, 21m-walk; hypotonia, hyperlaxity 2y6m-first words; 3y2m-solve puzzles easily, recognizes some letters, can count to five, recognizes colours; can stay focused on activity; speech iompediment, more than 50 significant words; astigmatism; no hearing loss; high palate, widely spaced teeth; atrial septal defect; no respiratory problems; neonatal sucking difficulties; nocturnal saliva swallowing difficulties (coughing, nocturnal wakings); inguinal testis (now normal); normal ultrasound abdominal/kidneys; no hematologic problems; no endocrine problems; joint laxity; no immunological problems; normal skin; "de novo postnatal macrosomia", epicanthus, thick eyebrows, synophris, large lobules of ears, deeply set eyes, periorbital fullness, downturned mouth,; single palmar crease, clinodactyly Inheritance Isolated (sporadic) Age/Examination 3y2m (3 years, 2 months) 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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