NIH Rare Diseases :
52
OPHN1 syndrome is a rare disorder characterized by intellectual disability and changes in the part of the brain which controls movement and balance (cerebellum ). The syndrome mainly affects males. Signs and symptoms may include intellectual disability, low muscle tone (hypotonia ), developmental and cognitive delay , early-onset seizures , abnormal behavior, small or underdeveloped genitals, characteristic facial features (long face, bulging forehead, under eye creases, deep set eyes, and large ears), crossed eyes (strabismus ) and inability to coordinate movements . A small cerebellum and large brain ventricles can be seen on brain imaging (MRI ). Treatment is supportive and includes physical, occupational and speech and language therapy. OPHN1 syndrome is caused by mutations in the OPHN1 gene , which is located on the X chromosome . Inheritance is X-linked . Some females who carry a mutation in the OPHN1 gene may have mild learning disabilities, mild cognitive impairment , strabismus, and subtle facial changes.
MalaCards based summary :
Ophn1 Syndrome, also known as
intellectual disability, x-linked, with cerebellar hypoplasia and distinctive facial appearance, is related to
mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance. Affiliated tissues include
eye,
brain and
cerebellum.
Wikipedia :
74
Oligophrenin-1 is a protein that in humans is encoded by the OPHN1...
more...
