Phenotype #0000144902

Individual ID 00184772
Associated disease CCDS2;GAMTD
Phenotype details -
Diagnosis/Initial GAMT deficiency
Inheritance Familial, autosomal recessive
Diagnosis/Definite CCDS-2
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Gajja Salomons
Database submission license No license selected
Created by Gajja Salomons