Global Variome shared LOVD

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Phenotype #0000352672 Individual ID 00467465 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., no ventriculomegaly; cerebellar hypoplasia/atrophy; no clubfeet; corpus callosum agenesis; no flexion contractures; microcephaly; no micrognathia, no retrognathia; no clenched fists with overlapping fingers; cerebellar vermis atrophy, amyotrophy, cataract with bilateral microphthalmia, small hands/feet, growth hormone deficiency Inheritance Familial, autosomal recessive Age/Examination 8y (8 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 2025-10-13 13:28:22 +02:00 (CEST) Date last edited N/A

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