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GTR Home > Conditions/Phenotypes > X-linked intellectual disability-cerebellar hypoplasia syndrome

X-linked intellectual disability-cerebellar hypoplasia syndrome

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE; MENTAL RETARDATION, X-LINKED 60
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. [from ORDO]

Available tests

60 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (60 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARHGAP41, MRX60, MRXSBL, OPN1, OPHN1
    Summary: oligophrenin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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