Global Variome shared LOVD

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

Phenotype #0000232875 Individual ID 00307051 Associated disease NDD Diagnosis/Initial neurodegeneration Diagnosis/Definite - Phenotype details congenital form; delayed motor development; severe intellectual impairment; chronic progression; no regression; no acute respiratory failure; microcephaly (SD−5.3); seizures; spastic paraplegia (tetraparesis); visual disturbance; MRI pattern I suspected; normal nerve conduction Inheritance Familial, autosomal recessive Age/Examination 1d Age/Diagnosis - Age/Onset 8y 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 2020-07-28 19:38:55 +02:00 (CEST) Date last edited N/A

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