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Entry | Name | Description | Category | Pathway | Gene |
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H02303 | Alopecia-mental retardation syndrome | ... Three regions associated with APMR have been identified. Recently, a novel pathogenic, missense mutation in the AHSG has been revealed. AHSG maps within APMR linkage region 1 (APMR1) as reported before. | Congenital malformation |
(APMR1) AHSG [HSA:197] [KO:K23409] (APMR4) LSS [HSA:4047] [KO:K01852] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |