Global Variome shared LOVD

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Phenotype #0000331328 Individual ID 00441945 Associated disease NDD Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite - Phenotype details see paper; ..., 1y-deceased; high forehead, high eye brows, high arch palate, tented mouth; severe global developmental delay; generalized hypotonia, weak cry, swallowing problems, absent dtrs; irregular outline to prominent bodies of both lateral ventricles with abnormal periventricular T2 hyperintensity, generous extra‐axial csf spaces with bilateral and symmetric underopercularization, foreshortening and thinning of corpus callosum; hypertrophic cardiomyopathy; difficulty breathing and choking at 1 month of age, recurrent respiratory infections, laryngomalacia; feeding difficulties, constipation, distended abdomen, failure to thrive, hepatosplenomegaly; delayed fontanel closure; optic atrophy, esotropia; strawberry hematoma of right knee Inheritance Familial, autosomal recessive Age/Examination 1y (1 year) 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 2023-11-16 13:17:26 +01:00 (CET) Date last edited N/A

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