Global Variome shared LOVD

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Phenotype #0000330496 Individual ID 00440584 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 39w; MRI brain bilateral brain atrophy, bilateral frontotemporal extra brain space widening, multiple small cysts in the corpus callosum; atrial septal defect; no hypotonia; cryptorchidism; mild hearing loss in both ears; severe global developmental delay; only a few words; 8m-head control, 18m-rolled ove, 27m-crawl, 3y-walk unsteadily; no seizures; dysplasia teeth, laryngomalacia; aspiration pneumonias; feeding difficulties, choking on milk easily; no hematologic problems; congenital hypothyroidism; no abnormalities hand/feet; wide eye distance, wide nose bridge and wings, mouth salivation, thick lips, micrognathia; no ophthalmological anomalies; 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 2023-11-04 14:53:49 +01:00 (CET) Date last edited N/A

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