Global Variome shared LOVD

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

Phenotype #0000296687 Individual ID 00404098 Associated disease SPGF11 Phenotype details 28-y male with delayed mental development. He developed progressive spastic lower limbs, wasting of small muscles of the hands and pes cavus. He has two paternal male uncles with similar condition. Diagnosis/Initial HSP Inheritance Familial, autosomal recessive Diagnosis/Definite SPG11 Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset 12y Phenotype/Onset - Protein - Owner name Sherifa Ahmed Hamed Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sherifa Ahmed Hamed Date created 2022-02-27 12:37:54 +01:00 (CET) Date last edited 2022-03-03 10:09:28 +01:00 (CET)

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