Congenital pectus excavatum
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
Mild conductive hearing impairment
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
GALACTOSIALIDOSIS
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
Generalized hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
Kyphosis deformity of spine
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
Aortic Valve Stenosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
Short stature
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
Coarse facial features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
Mild Mental Retardation
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
Mild Mental Retardation
|
|
0.700 |
CausalMutation
|
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
Coarse facial features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
GALACTOSIALIDOSIS
|
|
0.700 |
CausalMutation
|
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
Generalized hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
Short stature
|
|
0.700 |
CausalMutation
|
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
Aortic Valve Stenosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
Congenital pectus excavatum
|
|
0.700 |
CausalMutation
|
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
Mild conductive hearing impairment
|
|
0.700 |
CausalMutation
|
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
Kyphosis deformity of spine
|
|
0.700 |
CausalMutation
|
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
Mild Mental Retardation
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
|
8968752 |
1996 |
Generalized hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
|
8968752 |
1996 |
Coarse facial features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
|
8968752 |
1996 |
Aortic Valve Stenosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
|
8968752 |
1996 |
Kyphosis deformity of spine
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
|
8968752 |
1996 |
Short stature
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
|
8968752 |
1996 |
Congenital pectus excavatum
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
|
8968752 |
1996 |