Global Variome shared LOVD

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Phenotype #0000352336 Individual ID 00467129 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., microcephaly; seizures, bilateral tonic-clonic seizure; spasticity; spastic tetraparesis; no speech; global developmental delay; dystonia; inability to walk; hyperreflexia; abnormal cerebral white matter morphology; small basal ganglia; cerebral white matter agenesis; feeding difficulties; scoliosis; hypertonia; generalized hypotonia 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 2025-10-08 11:17:07 +02:00 (CEST) Date last edited 2025-10-08 11:39:07 +02:00 (CEST)

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