Global Variome shared LOVD

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Phenotype #0000306875 Individual ID 00415074 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., severe developmental delay, no speech yet, no head support; 14d-focal, myoclonic seizures; MRI cortical atrophy, deep Sylvian fissures, mild ventriculomegaly, prominent basal ganglia, hypoplastic corpus callosum, retrocerebellar and bitemporal arachnoid cysts; intracranial calcifications; hypotonia, dystonia, brisk reflexes, nystagmus; microcephaly; small for gestational age; congenital heart defect; optic atrophy Inheritance Familial, autosomal dominant Age/Examination 00y05m (5 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 2022-08-06 22:07:04 +02:00 (CEST) Date last edited 2022-08-08 15:18:10 +02:00 (CEST)

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