Global Variome shared LOVD

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Phenotype #0000359688 Individual ID 00474895 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., no prenatal anomalies; birth at term, Cesarean section for breech presentation; hypotonia; broad-based gait, no ataxia; no seizures; MRI brain normal; global developmental delay, gross motor delay, 2y-walk; expressive speech; no ophthalmologic problems; no hearing loss; no cardiac problems; no respiratory problems; severe constipation; no renal anomalies; no genitourinary problems; no hematologic problems; no endocrine problems; no musculoskeletal problems; no immunological problems; normal skin; mild frontal bossing, raised philtrum, thin upper lip,; normal hands, normal feet Inheritance Isolated (sporadic) Age/Examination 3y (3 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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