Global Variome shared LOVD

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Phenotype #0000359686 Individual ID 00474893 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., no prenatal anomalies; hypotonia; MRI brain abnormal sulcal pattern suggestive of polymicrogyria, thin corpus callosum, delayed myelination; motor delay, speech delay; no ophthalmologic problems; no hearing loss; laryngeal cleft; no cardiac problems; no respiratory problems; constipation; G-tube dependence; GERD; no renal anomalies; no genitourinary problems; no hematologic problems; no endocrine problems; no musculoskeletal problems; recurrent infections/pneumonia, possible IgA deficiency; normal skin; mild dysmorphic facial features- overfolded helices, bilateral epicanthal folds, down slanted palpebral fissures, deep- set eyes, periorbital fullness, high arched palate, wide nasal bridge, scaphocephalic with a prominent occiput, metopic but not sagittal ridging; thickening of palms; thymus bulge with valsalva 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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