|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.
|
16200072 |
2005 |
|
Pseudo-Hurler Polydystrophy
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.
|
16465621 |
2006 |
|
Large head (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.
|
16465621 |
2006 |
|
Poor school performance
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.
|
16465621 |
2006 |
|
MUCOLIPIDOSIS II ALPHA/BETA (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.
|
16465621 |
2006 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
|
16630736 |
2006 |
|
Irritation - emotion
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.
|
16465621 |
2006 |
|
Autistic Disorder
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.
|
16465621 |
2006 |
|
Premature adrenarche
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.
|
16465621 |
2006 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.
|
19634183 |
2009 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
|
19197337 |
2009 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
The natural history and osteodystrophy of mucolipidosis types II and III.
|
20367762 |
2010 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
|
20147709 |
2010 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
|
19617216 |
2010 |
|
Poor school performance
|
|
0.700 |
CausalMutation
|
CLINVAR |
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
|
20880125 |
2011 |
|
MUCOLIPIDOSIS II ALPHA/BETA (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
|
20880125 |
2011 |
|
Large head (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
|
20880125 |
2011 |
|
MUCOLIPIDOSIS II ALPHA/BETA (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
|
Irritation - emotion
|
|
0.700 |
CausalMutation
|
CLINVAR |
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
|
20880125 |
2011 |
|
Pseudo-Hurler Polydystrophy
|
|
0.700 |
CausalMutation
|
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
|
Pseudo-Hurler Polydystrophy
|
|
0.700 |
CausalMutation
|
CLINVAR |
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
|
20880125 |
2011 |
|
Autistic Disorder
|
|
0.700 |
CausalMutation
|
CLINVAR |
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
|
20880125 |
2011 |
|
Premature adrenarche
|
|
0.700 |
CausalMutation
|
CLINVAR |
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
|
20880125 |
2011 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif.
|
23192343 |
2013 |
|
Autistic Disorder
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.
|
25606425 |
2014 |