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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02607 | Short stature and microcephaly with genital anomalies | ... a new autosomal recessive syndrome of severe growth failure. It has been reported that mutations in CENPT cause this syndrome. CENPT is an inner kinetochore member and involved in kinetochore targeting ... | Congenital malformation | CENPT [HSA:80152] [KO:K11512] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |