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GTR Home > Conditions/Phenotypes > Syndromic X-linked intellectual disability Hedera type

Syndromic X-linked intellectual disability Hedera type

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE; X-Linked Mental Retardation with Epilepsy
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

The Hedera type of X-linked syndromic intellectual developmental disorder (MRXSH) is characterized by global developmental delay apparent from infancy and progressive neurologic decline with abnormal movements, spasticity, and seizures. Brain imaging shows volume loss of cortical white and gray matter, thin corpus callosum, and myelination defects, consistent with a neurodegenerative process. Only males are affected (summary by Hirose et al., 2019). [from OMIM]

Available tests

33 tests are in the database for this condition.

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Clinical tests (33 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: (P)RR, APT6M8-9, ATP6IP2, ATP6M8-9, CDG2R, ELDF10, HT028, M8-9, MRXE, MRXSH, MSTP009, PRR, RENR, XMRE, XPDS, ATP6AP2
    Summary: ATPase H+ transporting accessory protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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