Global Variome shared LOVD

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

Phenotype #0000228810 Individual ID 00301712 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 6y-global developmental delay. Her birth was normal. Developmental delay was suspected in infancy. At the age of 12 months she was able to sit without support and started walking at the age of 2 years. Speech was significantly delayed and she only speaks with difficulty. Spells (?seizures) started at the age of 2 years for which she was successfully treated with Depakene at the local hospital. Patient has history of bilateral cataracts and she underwent bilateral lens extraction. Family history is significant for consanguinity, and the parents have two other children with similar course with variable severity. Brain MRI revealed small atrophic cerebellum with prominence of the posterior fossa CSF spaces. Inheritance Familial, autosomal recessive Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-22 17:20:34 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.