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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01204 | Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) | Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) is autosomal recessive, genetically heterogeneous conditions characterized by early onset of cerebellar ataxia and MR. Patients ... | Nervous system disease |
(CAMRQ1) VLDLR [HSA:7436] [KO:K20053] (CAMRQ2) WDR81 [HSA:124997] [KO:K17601] (CAMRQ3) CA8 [HSA:767] [KO:K01672] (CAMRQ4) ATP8A2 [HSA:51761] [KO:K14802] |
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| H01677 | Congenital hydrocephalus | Congenital hydrocephalus (HYC) is a common birth defect in the circulation of the cerebrospinal fluid (CSF). It is characterized by ventricular dilatation. Although commonly considered a single disorder ... | Congenital malformation |
(HYC1) CCDC88C [HSA:440193] [KO:K25811] (HYC2) MPDZ [HSA:8777] [KO:K06095] (HYC3) WDR81 [HSA:124997] [KO:K17601] (HYC4/HYDCC1) TRIM71 [HSA:131405] [KO:K12035] (HYC5) SMARCC1 [HSA:6599] [KO:K11649] (HYDNP1) CFAP43 [HSA:80217] [KO:K24223] |
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