Disease #01732 (ARCL1A (cutis laxa, autosomal recessive, type IA (ARCL-1A)), OMIM:219100)

Official abbreviation ARCL1A
Name cutis laxa, autosomal recessive, type IA (ARCL-1A)
OMIM ID 219100
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene FBLN5
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00081474 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes Lebanon - - 0 - - ARCL1A generalized congenital cutis laxa with facial involvement, severe emphysema, inguinal hernias, peripheral pulmonary artery stenosis, pyloric stenosis, mild aortic and tricuspid valve regurgitation FBLN5 FBLN5 1 1 Bert Callewaert
00081475 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes Algeria - - 0 - - ARCL1A congenital cutis laxa (with facial involvement), severe emphysema, normal cardiac status on echocardiography, high broad forehead, low broad nasal bridge, beaked nose, larage dysplastic ears, sagging cheeks, everted lower lip, photophobia, normal mental status, hypotonia FBLN5 FBLN5 1 1 Bert Callewaert
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