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Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and behavioral signs and symptoms are present, and non-syndromic intellectual disability, in which intellectual deficits appear without other abnormalities. [10]
Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. [2] Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder .
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome is a rare genetic disorder which is characterized by multi-systemic symptoms primarily affecting the intellect and post-natal development.
[2] [6] These changes likely explain the intellectual disability, ASD features, and other diverse signs and symptoms of ADNP syndrome. [2] So far, only loss-of-function mutations such as stop-gain or frameshift mutations have been reported as directly related. Most, but not all mutations might give rise to a truncated protein. [9]
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion. [1]
The first signs of SYNGAP1-related encephalopathy are typically gross motor delays in infancy followed by developmental delays, seizure onset and language impairment. [6] Penetrance is 100%. Mild to severe intellectual or developmental disability is present in the majority of patients. [7]
The two tissues with the highest demands for creatine are the brain and skeletal muscles. Muscular findings usually include weakness and decreased endurance. Other clinical findings include seizures, intellectual disability and developmental delay.
CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40, is a rare genetic disorder characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies.