Global Variome shared LOVD

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Phenotype #0000359687 Individual ID 00474894 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., no prenatal anomalies; severe progressive spasticity; MRI brain atrophy, scattered small subcortical calcifications; severe progressive developmental delay, episodes of regression; no ophthalmologic problems; no hearing loss; high palate; persistent left superior vena cava to coronary sinus; recurrent pneumonia; failure to gain weight; no renal anomalies; no genitourinary problems; no hematologic problems; no endocrine problems; increased muscle tone; no immunological problems; normal skin; puffy eyelids and cheeks ,small mouth slightly broad nose; finger swelling Inheritance Isolated (sporadic) Age/Examination 23m 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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