Global Variome shared LOVD

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

Phenotype #0000051234 Individual ID 00065129 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details severe ataxia (HP:0001251), single episode of seizures (HP:0001250), no dysmorphic features (HP:0001999), nonspecific cerebellar hypoplasia (HP:0001321), mild cerebral atrophy (HP:0002059); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-19 13:36:32 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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