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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01913 | Renpenning syndrome | ... X-linked mental retardation syndromes, caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene. It is characterized by intellectual deficiency, microcephaly, short stature, and microrchidia ... | Congenital malformation | PQBP1 [HSA:10084] [KO:K12865] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |