Variant: rs1555817157 

    present in Gene: ABHD12
    present in Chromosome: 20
    Position on Chromosome: 25339320
    Alleles of this Variant: TCTTCCTCAGGCG/-

rs1555817157 in ABHD12 gene and Cerebellar Dysmetria PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Cerebellar atrophy PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Congenital pes cavus PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Decreased tendon reflex PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Distal sensory impairment PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Dysarthria PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Hyperreflexia PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Intention tremor PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Nystagmus PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Optic Atrophy PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Polyneuropathy PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Sensorimotor neuropathy PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Sensorineural Hearing Loss (disorder) PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Subcapsular cataract PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and obsolete Rod-cone dystrophy PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.