Global Variome shared LOVD

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Phenotype #0000359679 Individual ID 00474886 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., no prenatal anomalies; seizures; hypotonia; developmental delay, 3y-walk; intellectual disability; very few words; autism spectrum disorder; no ophthalmologic problems; no hearing loss; high palate; interrupted aortic arch, multiple ASDs/VSDs, subaortic stenosis,severe LV dysfunction; no respiratory problems; G-tube fed, constipation; cryptorchidism; neutropenia, thrombocytopenia; no endocrine problems; tall; no immunological problems; normal skin; ICU for hyperammonemia; myopathic facies; hypoteloric, thin upper and lower lips vermilion, highly arched eyebrows with synophrys; thick eyelashes, left preauricular pit; normal hands, normal feet 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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