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The associated clinical spectrum subsequently expanded to a less severe phenotype dominated by cutaneous involvement. At the moment, ARCL2A was described in a few case reports and series only. An Italian adult woman ARCL2A with a phenotype restricted to skin and the two novel c.3G&gt;C and c.1101dup <jats:italic>ATP6V0A2<\/jats:italic> variants has been reported. A systematic literature review allowed us to identify 69 additional individuals from 64 families. Available data were scrutinized in order to describe the clinical and molecular variability of ARCL2A. About 78.3% of known variants were predicted null alleles, while 11 were missense and 2 affected noncanonical splice sites. Age at ascertainment appeared as the unique phenotypic discriminator with earlier age more commonly associated with facial dysmorphism (<jats:italic>p<\/jats:italic> .02), high\/cleft palate (<jats:italic>p<\/jats:italic> .005), intellectual disability\/global developmental delay (<jats:italic>p<\/jats:italic> .013), and seizures (<jats:italic>p<\/jats:italic> .024). No specific genotype\u2013phenotype correlations were identified. This work confirmed the existence of an attenuated phenotype associated with <jats:italic>ATP6V0A2<\/jats:italic> biallelic variants and offers an updated critique to the clinical and molecular variability of ARCL2A.<\/jats:p>","DOI":"10.1002\/ajmg.a.62047","type":"journal-article","created":{"date-parts":[[2020,12,27]],"date-time":"2020-12-27T10:01:07Z","timestamp":1609063267000},"page":"955-965","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Review of clinical and molecular variability in autosomal recessive cutis laxa <scp>2A<\/scp>"],"prefix":"10.1002","volume":"185","author":[{"given":"Silvia","family":"Morlino","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Fondazione IRCCS\u2010Casa Sollievo della Sofferenza  Foggia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grazia","family":"Nardella","sequence":"additional","affiliation":[{"name":"Division of Medical 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