Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000352673 Individual ID 00467466 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., ventriculomegaly; cerebellar hypoplasia/atrophy; no clubfeet; no flexion contractures; microcephaly; micrognathia and/or retrognathia; no clenched fists with overlapping fingers; nodular heterotopia, optic atrophy, enlarged cisterna magna, polymicrogyria, ventricular septal defect 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 2025-10-13 13:28:22 +02:00 (CEST) Date last edited N/A

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