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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal dominant 27

Intellectual disability, autosomal dominant 27

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM

Summary

Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) is characterized by mildly impaired intellectual development and microcephaly. Patients may also have ocular malformations, ocular apraxia, or hypogonadotropic hypogonadism. The disorder shows a unique DNA methylation signature (summary by Al-Jawahiri et al., 2022). [from OMIM]

Available tests

19 tests are in the database for this condition.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CSS9, IDDMOH, MRD27, SOX11
    Summary: SRY-box transcription factor 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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