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GTR Home > Conditions/Phenotypes > Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Synonyms
Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia; CORPUS CALLOSUM, AGENESIS OF, WITH IMPAIRED INTELLECTUAL DEVELOPMENT, OCULAR COLOBOMA, AND MICROGNATHIA; MENTAL RETARDATION, X-LINKED, SYNDROMIC 28
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. [from ORDO]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALPHA-4, IBP1, MRXS28, alpha4, IGBP1
    Summary: immunoglobulin binding protein 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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