| Label | Id | |
|---|---|---|
| micrognathia, absent thumbs, & distal aphalangia cleidocranial dysplasia | C536719 | |
| mental retardation unusual facies hypothyroidism | C536717 | |
| fatal infantile, with olivopontocerebellar hypoplasia encephalopathy | C536716 | |
| sensorineural deafness with pituitary dwarfism | C536710 |