Variant: rs779027563 

    present in Gene: CNTNAP1
    present in Chromosome: 17
    Position on Chromosome: 42687838
    Alleles of this Variant: G/C

rs779027563 in CNTNAP1 gene and Abnormality of subcutaneous fat tissue PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Abnormality of the helix PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Absence of stomach bubble on fetal sonography PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Anteverted nostril PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Atrophy of corpus callosum PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Blepharoptosis PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Broad eyebrow PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Bulbar palsy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Cerebellar atrophy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Cerebellar vermis atrophy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Cerebral cortical atrophy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Cerebral white matter atrophy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Chronic constipation PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Decreased nerve conduction velocity PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Deglutition Disorders PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Delayed CNS myelination PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Depressed nasal bridge PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Downward slant of palpebral fissure PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Elevated brain lactate level by MRS PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Facial diplegia PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Frontal bossing PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Generalized hypotonia PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Hand clenching PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Hemangioma PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and High anterior hairline PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and High forehead PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and High, narrow palate PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Hydrocephalus PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Hypoplastic fifth fingernail PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and LETHAL CONGENITAL CONTRACTURE SYNDROME 7 PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Late closure of anterior fontanel PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Long narrow head PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Low Vision PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Low set ears PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Microcephaly (physical finding) PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Myopathic facies PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 PMID 28374019 2017 CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

PMID 29511323 2018 Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

PMID 27818385 2016 Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.

rs779027563 in CNTNAP1 gene and Narrow forehead PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Neonatal Hypotonia PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Neonatal respiratory distress PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Onion bulb formation PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Optic Atrophy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Orbital separation excessive PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Peripheral hypomyelination PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Polyhydramnios PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Poor suck PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Premature Birth PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Premature birth following premature rupture of fetal membranes PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Progressive sensorineural hearing impairment PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Progressive ventriculomegaly PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Recurrent pneumonia PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Retinal depigmentation PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Shallow orbits PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Short nose PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Short philtrum PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Sparse and thin eyebrow PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Underdeveloped supraorbital ridges PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Undetectable visual evoked potentials PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.