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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01876 |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome Chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR) syndrome |
... dysplasia, microcephaly, and mental retardation (CDMMR) syndrome. Recently, heterozygous mutations in KIF11, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in ... | Congenital malformation | KIF11 [HSA:3832] [KO:K10398] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |