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GTR Home > Conditions/Phenotypes > Blepharophimosis - intellectual disability syndrome, Ohdo type

Blepharophimosis - intellectual disability syndrome, Ohdo type

Synonyms
Blepharophimosis syndrome Ohdo type; Madokoro Ohdo Sonoda syndrome; Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth; OHDO SYNDROME
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. [from SNOMEDCT_US]

Available tests

4 tests are in the database for this condition.

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Clinical tests (4 available)

Molecular Genetics Tests

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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