ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.662+5G>C

dbSNP: rs941666554
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir RCV001257917 SCV001433957 pathogenic Fucosidosis no assertion criteria provided research He had an early onset of psychomotor retardation within the first year of life. He had developed severe spastic quadriplegia at 18 months of age. Mild coarse facies were noted at the age of two years, and severe growth retardation and angiokeratoma were noted at the age of three.

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