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

  Powered by LOVD v.3.0 Build 28d
LOVD software ©2004-2023 Leiden University Medical Center 		There are currently no updates.