Cataract-hypertrichosis-intellectual disability syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Cataract-hypertrichosis-intellectual disability syndrome

Synonyms: CAHMR syndrome

Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

Newly diagnosed with
Cataract-hypertrichosis-intellectual disability syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.