|
Decreased ossification underlying the skin defect (in 20 to 30% of patients)
|
DISO:OMIM |
|
|
HYPODONTIA/OLIGODONTIA WITH OROFACIAL CLEFT
|
DISO:OMIM |
|
|
Hypodontia Oligodontia with Orofacial Cleft
|
DISO:MSH |
|
|
Dystonia, episodic, primary affects hands and feet
|
DISO:OMIM |
|
|
Neurodevelopmental impairment (early-onset form)
|
DISO:OMIM |
|
|
Sensorineural hearing loss (early-onset form)
|
DISO:OMIM |
|
|
Two main phenotypes, early-onset with neurologic defects and early-adult onset with gout
|
DISO:OMIM |
|
|
Specimen source | Body Fluid
|
DISO:LNC |
|
|
Spermatozoa Rapid | Semen
|
DISO:LNC |
|
|
Caused by mutation in the nuclear receptor subfamily 2, group E, member 3 gene (NR2E3, 604485.0006)
|
DISO:OMIM |
|
|
Hearing loss, sensorineural, severe to profound
|
DISO:OMIM |
|
|
Hearing loss, sensorineural, severe-to-profound
|
DISO:OMIM |
|
|
Sensorineural hearing loss, severe to profound
|
DISO:OMIM |
|
|
Periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress
|
DISO:OMIM |
|
|
Waxy casts broad | urine sediment
|
DISO:LNC |
|
