|
Hyperpituitarism [Disease/Finding]
|
DISO:NDFRT |
|
|
Majority of cases are sporadic, some autosomal dominant families have been described
|
DISO:OMIM |
|
|
Hearing loss, sensorineural (bilateral, prelingual)
|
DISO:OMIM |
|
|
Psammomatous melanotic schwannomas
|
DISO:OMIM |
|
|
Expanded phalanges with widened medullary cavities
|
DISO:OMIM |
|
|
Expanded phalanges with widened medullary cavities
|
DISO:HPO |
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
DISO:OMIM |
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
DISO:MTH |
|
|
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
|
DISO:MSH |
|
|
Mecp2-Related Severe Neonatal Encephalopathy
|
DISO:MSH |
|
