|
rs1026300967
|
|
Dysmorphic features
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
|
27676246 |
2017 |
|
rs1026300967
|
|
Dysmorphic features
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.
|
28940190 |
2017 |
|
rs1026300967
|
|
Dysmorphic features
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
|
22302274 |
2012 |
|
rs1028668536
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.
|
28428354 |
2017 |
|
rs1028668536
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.
|
27774754 |
2017 |
|
rs1028668536
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.
|
25897204 |
2015 |
|
rs1028668536
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Diagnosing mucopolysaccharidosis IVA.
|
23371450 |
2013 |
|
rs1028668536
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.
|
23385297 |
2013 |
|
rs1028668536
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.
|
22358740 |
2013 |
|
rs1028668536
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Functional capacity evaluation of patients with mucopolysaccharidosis.
|
22543891 |
2012 |
|
rs1028668536
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.
|
21506915 |
2011 |
|
rs1028668536
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.
|
17347914 |
2007 |
|
rs1028668536
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Multidisciplinary treatment approach of Morquio syndrome (Mucopolysaccharidosis Type IVA).
|
16539564 |
2006 |
|
rs1028668536
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
|
16287098 |
2005 |
|
rs1028668536
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Upper airways abnormalities and tracheal problems in Morquio's disease.
|
12728175 |
2003 |
|
rs1028668536
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
MRI of the brain and craniocervical junction in Morquio's disease.
|
9189888 |
1997 |
|
rs1028668536
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The mucopolysaccharidoses: a clinical review and guide to management.
|
7741581 |
1995 |
|
rs1045118320
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.
|
28540186 |
2017 |
|
rs1045118320
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
|
25658047 |
2015 |
|
rs1045118320
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
|
26185144 |
2015 |
|
rs1045118320
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Genetics of coenzyme q10 deficiency.
|
25126048 |
2014 |
|
rs1045118320
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
|
24270420 |
2013 |
|
rs1045118320
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
|
22368301 |
2012 |
|
rs1045118320
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
|
21540551 |
2011 |
|
rs1045118320
|
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Coenzyme Q deficiency in muscle.
|
21844807 |
2011 |