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

Syndromic X-linked intellectual disability Siderius type

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SIDERIUS TYPE; Intellectual deficit X-linked Siderius type; Siderius Hamel syndrome
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Siderius-type syndromic intellectual developmental disorder (MRXSSD) is an X-linked disorder in which affected males have mildly impaired intellectual development, mild dysmorphic features, and bilateral or unilateral cleft lip/palate (summary by Koivisto et al., 2007). [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: JHDM1F, KDM7B, MRXSSD, ZNF422, PHF8
    Summary: PHD finger protein 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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