X-linked intellectual disability, Cabezas type

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Cabezas syndrome

An X-linked syndromic intellectual disability characterized by developmental delay intellectual disability (ID) with severe speech impairment and short stature. Variable additional clinical features have been associated including behavioral disturbances gait abnormalities tremor seizures hypogonadism truncal obesity unspecific facial dysmorphism and small hands and feet.

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 June 2024

Newly diagnosed with
X-linked intellectual disability, Cabezas type?

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

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

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