Global Variome shared LOVD

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Phenotype #0000359696 Individual ID 00474903 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., no prenatal anomalies; e4y6m-pilepsy; hypotonia; ataxia; upper hand dyskinetic involuntary movements, stereotypies; MRI brain normal; severe delay; no words; understands simple orders; 32m-walk; no ophthalmologic problems; no hearing loss; no cardiac problems; no respiratory problems; no gastrointestinal problems, no feeding difficulties; no renal anomalies; no genitourinary problems; no hematologic problems; no endocrine problems; no musculoskeletal problems; no immunological problems; normal skin; no facial dysmorphism; normal Inheritance Isolated (sporadic) Age/Examination 14y (14 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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