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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01402 | Nicolaides-Baraitser syndrome | Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies, and intellectual disability. Heterozygous missense mutations in SMARCA2 cause this disease. | Congenital malformation | SMARCA2 [HSA:6595] [KO:K11647] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |