-
Amelogenesis imperfecta type IIA5 (sequence analysis of SLC24A4 gene)
+ info
-
Amelogenesis imperfecta type III (sequence analysis of FAM83H gene)
+ info
-
Aminoacylase deficiency (deletion/ duplication analysis of ACY1 gene)
+ info
-
Aminoacylase deficiency (sequence analysis of ACY1 gene)
+ info
-
Amish infantile epilepsy syndrome (sequence analysis of ST3GAL5 gene)
+ info
-
AMP deaminase deficiency (Q12X and P48L mutations on AMPD1 gene)
+ info
-
AMP deaminase deficiency (sequence analysis of AMPD1 gene)
+ info
-
Amplification of chromosome 21 (iAMP21)
+ info
-
Amyloidosis (sequence analysis of APOA1 gene)
+ info
-
Amyloidosis, finnish type (sequence analysis of GSN gene)
+ info
-
Amyloidosis, hereditary renal (sequence analysis of FGA gene)
+ info
-
Amyotrophic lateral sclerosis (deletion/duplication analysis on SETX gene)
+ info
-
Amyotrophic lateral sclerosis 1 (sequence analysis of SOD1 gene)
+ info
-
Amyotrophic lateral sclerosis 10 (sequence analysis of TARDBP gene)
+ info
-
Amyotrophic lateral sclerosis 14 (sequence analysis of VCP gene)
+ info
-
Amyotrophic lateral sclerosis 15 (sequence analysis of UBQLN2 gene)
+ info
-
Amyotrophic lateral sclerosis 16 (sequence analysis of SIGMAR1 gene)
+ info
-
Amyotrophic lateral sclerosis 17 (sequence analysis of CHMP2B gene)
+ info
-
Amyotrophic lateral sclerosis 18 (sequence analysis of PFN1 gene)
+ info
-
Amyotrophic lateral sclerosis 21 (sequence analysis of MATR3 gene)
+ info
