Global Variome shared LOVD

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

Phenotype #0000207696 Individual ID 00269900 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Developmental regression (HP:0002376); Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Myoclonic atonic seizures (HP:0011170); Progressive cerebellar ataxia (HP:0002073); Autistic behavior (HP:0000729); Inability to walk (HP:0002540); Progressive hearing impairment (HP:0001730); Progressive visual loss (HP:0000529); Cerebral cortical atrophy (HP:0002120) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name IMGAG Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by IMGAG Date created 2019-12-10 12:32:11 +01:00 (CET) Date last edited 2020-04-01 13:57:49 +02:00 (CEST)

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