Disease #01734 (ARCL2A (cutis laxa, autosomal recessive, type IIA (ARCL-2A)), OMIM:219200)

Official abbreviation ARCL2A
Name cutis laxa, autosomal recessive, type IIA (ARCL-2A)
OMIM ID 219200
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ATP6V0A2
Associated tissues -
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Individuals

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00289442 3022 - - F no Italy - 25y - - - ARCL2A generalized skin wrinkling, delayed closure of the anterior fontanelle. ATP6V0A2 ATP6V0A2 2 1 Carmela Fusco
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