Global Variome shared LOVD

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Phenotype #0000331333 Individual ID 00441950 Associated disease NDD Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite - Phenotype details see paper; ..., plagiocephaly, slightly coarse features; severe global developmental delay; hypotonia, not sitting or walking; reduction in the volume of deep white matter with abnormal signal; reduction in brainstem and vermian volume; dysmorphic corpus callosum and brainstem; no cardiac anomalies; admitted to picu for respiratory support following episode of decreased consciousness and hypothermia; feeding difficulties; no skeletal findings; no ophthalmologic findings; undescended testes Inheritance Familial, autosomal recessive Age/Examination 1y4m (1 year, 4 months) 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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