Phenotypes for disease #03275 (ARCL1C (cutis laxa, autosomal recessive, type IC (ARCL-1C)), OMIM:613177)

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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000061050 cutis laxa - mainly on trunk, little facial involvement diaphragmatic slinding hernia peripheral pulmonary artery stenosis severe bladder diverticula rectal prolapse, joint hypermobility, large ears, beaked nose - - Familial, autosomal recessive 23y - - - - Bert Callewaert 00081465
0000061051 generalized congenital cutis laxa with facial involvement severe pulmonary emphysema, bronchomalacia peripheral pulmonary artery stenoses hypotonia prominent veins dilated pelvis left kidney - - Familial, autosomal recessive 0m - - - - Bert Callewaert 00081466
0000061052 generalized cutis laxa with facial involvement severe pulmonary emphysema peripheral pulmonary artery stenoses hypotonia bladder diverticula large ears, low nasal bridge, prominent veins - - Familial, autosomal recessive 3m - - - - Bert Callewaert 00081467
0000061053 generalized cutis laxa with facial involvement severe pulmonary emphysema congentital hernia diaphragmantica (surgery) peripheral pulmonary artery stenoses hypotonia frontal bossing, thin hair growth - - Familial, autosomal recessive 2y - - - - Bert Callewaert 00081468
0000061054 congenital generalized cutis laxa with facial involvement, inguinal herniae, severe pulmonary emphysema, diaphragmatic hernia (surgery), polyvalvular disease, atrial septum aneurysm, recal rplapse, abdomnial wall herniae, prominent veins - - Familial, autosomal recessive 10y - - - - Bert Callewaert 00081469
0000061055 congenital generalized cutis laxa with facial involvement, pulmonary emphysema, pulmonary and systemic hypertension, late onset GBS sepsis, unilateral pyelic dilatation - - Familial, autosomal recessive 6m - - - - Bert Callewaert 00081470
0000061056 generalized congenital cutis laxa with facial involvement, diaphragmatic hernia, pulmonary hypertension, perpheral pulmonary artery stenoses, dysplastic pulmonary and aortic valves, atrium septum defect, severe gastro-intestinal diverticula, hypotonia, gastric perforation, polyhydramnion, esohageal tortuosity, gastric perforation, tissue fragility - - Familial, autosomal recessive 6m - - - - Bert Callewaert 00081471
0000061057 mild cutis laxa (generalized with later onset), mild pulmonary emphysema, perpheral pulmonary artery stenoses, tricuspid regurgitation, prominent forehead, blepharophimosis, epicanthal folds, short nose, elongated philtrum, lowset ears, webbed neck, low posterior hear-line, pelvic insufficiency, brain abcesses. - - Familial, autosomal recessive 13y - - - - Bert Callewaert 00081472
0000061058 congenital generalized cutis laxa with facial involvement, hiatal hernia, severe pulmonary emphysema, mild tricuspid regurgitation, pulmonary hypertension, bladder diverticula, hypotonia, large ears, frontal bossing, broad low nasal bridge, small fontanel, hypdronephrosis, tracheomalacia, joint hypermobility - - Familial, autosomal recessive 6m - - - - Bert Callewaert 00081473
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