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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02338 | PEHO-like syndrome | ... and early death. Cases lacking either optic atrophy or cerebellar hypoplasia are often termed PEHO-like syndrome. A homozygous frameshift mutation in CCDC88A has been identified in affected individuals. | Nervous system disease | CCDC88A [HSA:55704] [KO:K25392] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |