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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00268 | Lissencephaly | Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia. | Congenital malformation |
(LIS1/MDS) PAFAH1B1 [HSA:5048] [KO:K16794] (LIS2) RELN [HSA:5649] [KO:K06249] (LIS3) TUBA1A [HSA:7846] [KO:K07374] (LIS4) NDE1 [HSA:54820] [KO:K16738] (LIS5) LAMB1 [HSA:3912] [KO:K05636] (LIS6) KATNB1 [HSA:10300] [KO:K18643] (LIS7) CDK5 [HSA:1020] [KO:K02090] (LIS8) TMTC3 [HSA:160418] [KO:K23424] (LIS9) MACF1 [HSA:23499] [KO:K19827] (LIS10) CEP85L [HSA:387119] [KO:K16766] (LISX1) DCX [HSA:1641] [KO:K16579] (LISX2) ARX [HSA:170302] [KO:K09452] |
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| H01870 | Microhydranencephaly | ... of brain hemispheres and intracranial space filled with cerebrospinal fluid without signs of intracranial hypertension. In the patients with MHAC, homozygous mutations in NDE1 gene have been identified. | Congenital malformation | NDE1 [HSA:54820] [KO:K16738] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |