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Basilicata-Akhtar syndrome

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 36; MENTAL RETARDATION, X-LINKED, SYNDROMIC, BASILICATA-AKHTAR TYPE

Summary

Basilicata-Akhtar syndrome (MRXSBA) is characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech. Most patients are able to walk, although they may have an unsteady gait or spasticity. Additional findings include dysmorphic facial features and mild distal skeletal anomalies. Males and females are similarly affected (summary by Basilicata et al., 2018). [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: MRSXBA, MRXS36, MRXSBA, MSL3L1, MSL3
    Summary: MSL complex subunit 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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