Global Variome shared LOVD

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Phenotype #0000359682 Individual ID 00474889 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., 42wg-Caesarean section (size and drop in fetal movement); hypotonia; motor developmental delay, normal language development, normal fine motor development; no ophthalmologic problems; no hearing loss; delay in ductus arteriosus closure after birth, 21d-ECG normal; no respiratory problems; poor feeding, constipation; 14m-normal renal ultrasound; iron deficiency (4 µmol/L at 5 mo); no endocrine problems; no musculoskeletal problems; no immunological problems; white patches on skin, rash; narrow shoulders; small chin, deep set eyes, long eyelashes; fat pad top foot Inheritance Isolated (sporadic) Age/Examination - 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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