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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00865 | Lethal congenital contractural syndrome | Lethal congenital contractural syndrome (LCCS) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures with a severe form of arthrogryposis. LCCS is inherited ... | Congenital malformation |
(LCCS1) GLE1 [HSA:2733] [KO:K18723] (LCCS2) ERBB3 [HSA:2065] [KO:K05084] (LCCS3) PIP5K1C [HSA:23396] [KO:K00889] (LCCS4) MYBPC1 [HSA:4604] [KO:K12557] (LCCS5) DNM2 [HSA:1785] [KO:K23484] (LCCS6) ZBTB42 [HSA:100128927] [KO:K23196] (LCCS7) CNTNAP1 [HSA:8506] [KO:K07379] (LCCS8) ADCY6 [HSA:112] [KO:K08046] (LCCS9) ADGRG6 [HSA:57211] [KO:K08463] (LCCS10) NEK9 [HSA:91754] [KO:K20878] (LCCS11) GLDN [HSA:342035] [KO:K16364] |
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| H02357 | Congenital hypomyelinating neuropathy | Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy, often accompanied by arthrogryposis, that is characterized by prenatal onset, areflexia, hypotonia, hypomyelination, and slowed ... | Nervous system disease |
(CHN1) EGR2 [HSA:1959] [KO:K12496] (CHN2) MPZ [HSA:4359] [KO:K06770] (CHN3) CNTNAP1 [HSA:8506] [KO:K07379] |
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