Global Variome shared LOVD

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Phenotype #0000359681 Individual ID 00474888 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., no prenatal anomalies; generalized hypotonia; 2y-MRI brain dysmorphic corpus callosum, scattered foci of T2 prolongation in periventricular white matter; moderate global developmental delay (language limited, speech apraxia, ambulatory); mild hypermetropia, nasolacrimal duct obstruction; chronic om s/p tm tubes, normal audiometry; normal dentition, no caries; no cardiac problems; no respiratory problems; severe feeding difficulties, velopharyngeal insufficiency, GERD, constipation; nocturia; neutropenia (resolved), intermittent normocytic anemia; no endocrine problems; left sided hemihyperplasia; hypogammaglobulinemia; normal skin; severe fatigue, drop attacks (unclear etiology); 7y-brother hemihyperplasia, normal development (no FBXW7 variant); somewhat flat face, short nose, downturned corners of mouth; hemihyperplasia left leg Inheritance Isolated (sporadic) Age/Examination 5y (5 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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