Phenotype #0000041533

Individual ID 00054869
Associated disease SPAX4
Phenotype details ataxia, ovarian dysgenesis, deafness, neuropathy, ID
Diagnosis/Initial cerebellar ataxia
Inheritance Familial, autosomal recessive
Diagnosis/Definite MTDPS7
Age/Examination -
Age/Diagnosis -
Age/Onset 03y
Phenotype/Onset -
Protein -
Owner name Erik-Jan Kamsteeg
Database submission license No license selected
Created by Erik-Jan Kamsteeg
Date created 2015-11-30 15:58:52 +01:00 (CET)
Date last edited 2022-11-17 09:16:13 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.