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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02415 |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR) is an autosomal recessive disease caused by TMCO1 deficiency. The function of TMCO1 is unknown, however, a critical ... | Congenital malformation |
(CFSMR1) TMCO1 [HSA:54499] [KO:K21891] (CFSMR2) RAB5IF [HSA:55969] [KO:K26496] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |