PedAM
Pediatric Disease Annotations & Medicines
| Disease | intellectual disability |
| Phenotype | C0004134|ataxia |
| Sentences | 6 |
| PubMedID- 26189493 | The patient displayed a severe phenotype with early onset cerebellar ataxia complicated by intellectual disability, epilepsy, attention deficit hyperactivity disorder, strabismus, oral apraxia and joint hyperlaxity. |
| PubMedID- 25751627 | Initially normal psychomotor development slowed after seizure onset, resulting in mild-moderate intellectual disability associated with mild-moderate ataxia and continuous myoclonus in some cases. |
| PubMedID- 26157035 | We attempted to identify the gene responsible for autosomal recessive cerebellar ataxia with intellectual disability. |
| PubMedID- 25099823 | Angelman syndrome (as) is characterized by severe intellectual disability with ataxia, epilepsy, and behavioral uniqueness. |
| PubMedID- 26095287 | The causes of hh included hypopituitarism (n = 3), prader-willi syndrome, chromosomal aberration, intellectual disability syndrome with ataxia, and idiopathic causes (n = 2). |
| PubMedID- 22986007 | Mutations in ca8 cause a recessive form of congenital ataxia associated with mild intellectual disability[25]. |
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