| Label | Id | |
|---|---|---|
| blepharophimosis-intellectual deficit syndrome, say-barber-biesecker-young-simpson type | C536717 | |
| mental retardation unusual facies hypothyroidism | C536717 | |
| fatal infantile, with olivopontocerebellar hypoplasia encephalopathy | C536716 | |
| sensorineural deafness with pituitary dwarfism | C536710 |