X-linked intellectual disability, Cantagrel type

X-linked Mental retardation Cantagrel type is a rare condition that affects development. People with this condition show significant challenges early in life and have delays in reaching milestones. The condition has been noted for features such as muscle weakness at birth and difficulties in motor skills development, including walking much later than usual. This condition is also associated with various other signs such as problems with movement coordination, difficulties with eye alignment, and behaviors that may align with features of autism. The information comes from observed symptoms and clinical reports, highlighting that the condition primarily affects neurological and developmental functions.

Common signs include marked low muscle tone in newborns (neonatal hypotonia), progressive weakness affecting all four limbs (quadriparesia), and severely delayed development such as walking at around 3 years of age. Other reported symptoms include gastroesophageal reflux, repetitive hand movements, inward turning of the eyes (esotropia), and behaviors similar to infantile autism.

This condition is linked to genetic changes and follows an X-linked pattern, meaning that the gene involved is located on the X chromosome. Research indicates that mutations in the NEXMIF gene are associated with the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.