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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02391 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | ... pancreatic disease (IMNEPD) is a novel intellectual disability phenotype caused by homozygous mutations in PTRH2. IMNEPD is characterized by intellectual disability, microcephaly, progressive ataxia, sensorineural ... | Congenital malformation |
(IMNEPD1) PTRH2 [HSA:51651] [KO:K04794] (IMNEPD2) YARS1 [HSA:8565] [KO:K01866] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |