Phenotype #0000145782

Individual ID 00185651
Associated disease L2HGA
Phenotype details developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs
Diagnosis/Initial L2HGA
Inheritance Familial, autosomal recessive
Diagnosis/Definite L2HGA
Age/Examination -
Age/Diagnosis -
Age/Onset 78m
Phenotype/Onset -
Protein -
Owner name Gajja Salomons
Database submission license No license selected
Created by Gajja Salomons
Date created 2016-01-05 14:59:57 +01:00 (CET)
Date last edited N/A