CHAMP1-associated intellectual disability syndrome
CHAMP1-associated intellectual disability syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay, and other physical abnormalities. The syndrome is caused by mutations in the CHAMP1 gene.
Symptoms[edit | edit source]
The primary symptom of CHAMP1-associated intellectual disability syndrome is intellectual disability, which ranges from mild to severe. Other symptoms include developmental delay, difficulties with speech and language, and problems with motor skills. Some individuals may also have physical abnormalities, such as a small head size (microcephaly), distinctive facial features, and skeletal abnormalities.
Genetics[edit | edit source]
CHAMP1-associated intellectual disability syndrome is caused by mutations in the CHAMP1 gene. This gene provides instructions for making a protein that is involved in the regulation of chromosome structure and function. Mutations in the CHAMP1 gene disrupt the normal function of the protein, leading to the symptoms of the syndrome.
Diagnosis[edit | edit source]
Diagnosis of CHAMP1-associated intellectual disability syndrome is based on the presence of characteristic symptoms and confirmed by genetic testing. Genetic testing can identify mutations in the CHAMP1 gene.
Treatment[edit | edit source]
There is currently no cure for CHAMP1-associated intellectual disability syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support.
Prognosis[edit | edit source]
The prognosis for individuals with CHAMP1-associated intellectual disability syndrome varies. Some individuals may have mild symptoms and live independently, while others may require lifelong care and support.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
CHAMP1-associated intellectual disability syndrome is a rare disease.
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