Global Variome shared LOVD

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Phenotype #0000307721 Individual ID 00415950 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., severe neurodevelopmental delay, delayed social/cognitive abilities; delayed sit, delayed walk; no speech; no epilepsy; MRI slightly thickened cortex, decreased white matter volume, ventriculomegaly, bilateral enlarged frontal gyri; microcephaly, micrognathia, low set ears; patent ductus arteriosus, resolved at 6m; recurrent pneumonia; no immunological anomalies Inheritance Familial, autosomal recessive Age/Examination 03y (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 2022-08-19 10:37:55 +02:00 (CEST) Date last edited 2025-12-02 13:47:03 +01:00 (CET)

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