Global Variome shared LOVD

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Phenotype #0000337304 Individual ID 00448112 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details MRI brain cerebellar atrophy, hypoplasia/agenesis corpus callosum; , coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, full cheeks, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin; Inheritance Familial, autosomal recessive Age/Examination - 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 2024-02-15 19:21:32 +01:00 (CET) Date last edited N/A

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