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GTR Home > Conditions/Phenotypes > Linear skin defects with multiple congenital anomalies 2

Linear skin defects with multiple congenital anomalies 2

Summary

Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described. [from GeneReviews]

Available tests

15 tests are in the database for this condition.

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Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: APLCC, LSDMCA2, COX7B
    Summary: cytochrome c oxidase subunit 7B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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