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Entry | Name | Description | Category | Pathway | Gene |
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H02714 | Tessadori-Bicknell-van Haaften neurodevelopmental syndrome | Tessadori-Bicknell-van Haaften neurodevelopmental syndrome (TEBIVANED) is a novel syndrome caused by missense mutations in H4 genes. This syndrome is characterized by intellectual disability, motor and ... | Congenital malformation |
(TEBIVANED1) H4C3 [HSA:8364] [KO:K11254] (TEBIVANED2) H4C11 [HSA:8363] [KO:K11254] (TEBIVANED3) H4C5 [HSA:8367] [KO:K11254] (TEBIVANED4) H4C9 [HSA:8294] [KO:K11254] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |