rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Cerebral white matter atrophy
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Abnormality of the helix
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Progressive ventriculomegaly
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Neonatal Hypotonia
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Peripheral hypomyelination
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Atrophy of corpus callosum
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
High, narrow palate
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Short philtrum
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Low Vision
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Anteverted nostril
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Progressive sensorineural hearing impairment
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Poor suck
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Decreased nerve conduction velocity
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Cerebral cortical atrophy
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Microcephaly (physical finding)
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Cerebellar vermis atrophy
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Chronic constipation
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Hypoplastic fifth fingernail
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Underdeveloped supraorbital ridges
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Narrow forehead
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Abnormality of subcutaneous fat tissue
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Long narrow head
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Absence of stomach bubble on fetal sonography
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Hand clenching
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs779027563
|
Entrez Id: |
8506 |
Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Broad eyebrow
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |