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GTR Home > Conditions/Phenotypes > Microcephaly-thin corpus callosum-intellectual disability syndrome

Microcephaly-thin corpus callosum-intellectual disability syndrome

Synonyms
Intellectual developmental disorder, autosomal recessive 40; NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. [from ORDO]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CIF150, MRT40, TAF2B, TAFII150, TAF2
    Summary: TATA-box binding protein associated factor 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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