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GTR Home > Conditions/Phenotypes > Autosomal recessive cutis laxa type 2B

Autosomal recessive cutis laxa type 2B

Synonyms
CUTIS LAXA WITH PROGEROID FEATURES; CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

The phenotype of autosomal recessive cutis laxa type II (ARCL2) includes cutis laxa of variable severity, abnormal growth, developmental delay, and associated skeletal abnormalities (summary by Morava et al., 2009). No specific clinical features distinguish ARCL2A (219200), which includes a glycosylation defect, and ARCL2B, in which abnormal glycosylation has not been reported (Morava et al., 2009; Guernsey et al., 2009). For a phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). [from OMIM]

Available tests

54 tests are in the database for this condition.

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Clinical tests (54 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR, PYCR1
    Summary: pyrroline-5-carboxylate reductase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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