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GTR Home > Conditions/Phenotypes > Microcephaly, developmental delay, and brittle hair syndrome

Microcephaly, developmental delay, and brittle hair syndrome

Summary

Microcephaly, developmental delay, and brittle hair syndrome (MDBH) is a multisystem disorder with clinical variability. Affected individuals show cognitive and motor disabilities, as well as some degree of fine, brittle hair with microscopic shaft abnormalities. Other shared features include failure to thrive in early childhood and short stature, with some patients exhibiting feeding difficulties and hepatic steatosis (Kuo et al., 2019). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CARS, CYSRS, MCDDBH, MDBH, MGC:11246, CARS1
    Summary: cysteinyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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