eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pontocerebellar hypoplasia |
| Comorbidity | C0026847|spinal muscular atrophy |
| Sentences | 2 |
| PubMedID- 23284067 | Objectives: pontocerebellar hypoplasia with spinal muscular atrophy, also known as pch1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. |
| PubMedID- 25609612 | spinal muscular atrophy with pontocerebellar hypoplasia (sma-pch) is an infantile sma variant with additional manifestations, particularly severe microcephaly. |
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