PedAM
Pediatric Disease Annotations & Medicines
| Disease | intellectual disability |
| Phenotype | C0030486|paraplegia |
| Sentences | 5 |
| PubMedID- 25849048 | Mutations in plp1 are linked to pelizaeus-merzbacher disease and spastic paraplegia (spg2), conditions associated with intellectual disability and asd [85]. |
| PubMedID- 23746551 | All mutated cases presented an early-onset spastic paraplegia, with frequent intellectual disability, cerebellar ataxia, and peripheral neuropathy as well as cortical atrophy and white matter hyperintensities on brain imaging. |
| PubMedID- 26113134 | Truncating mutation in intracellular phospholipase a(1) gene (ddhd2) in hereditary spastic paraplegia with intellectual disability (spg54). |
| PubMedID- 20104589 | Using samples from a large omani family we recently mapped a gene for a novel autosomal recessive form of hsp (spg35) in which the spastic paraplegia was associated with intellectual disability and seizures. |
| PubMedID- 22290197 | We propose that ap4b1 mutations cause spg47 and should be considered in early onset spastic paraplegia with intellectual disability. |
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