PedAM
Pediatric Disease Annotations & Medicines
| Disease | neuropathy |
| Phenotype | C0026846|muscle wasting |
| Sentences | 1 |
| PubMedID- 26243799 | (2004)pmm216p13pmm2-cdg cdg-1 (a previously known as congenital disorder of glycosylation type 1a)cerebellar dysfunction (ataxia, dysarthria, dysmetria), non-progressive cognitive impairment, stroke-like episodes, peripheral neuropathy with or without muscle wasting, absent puberty in females, small testes in males, retinitis pigmentosa, progressive scoliosis with truncal shortening, joint contractures, and premature agingsparks and krasnewich (2005)hsd17b4hars2clpplars2c10orf25q215q31.319p13.33p21.310q24perrault syndrome, pssensorineural deafness in both males and females, and neurological manifestations in some patients.jenkinson et al. |
Page: 1