|
Specimen specific gravity acceptable | urine
|
DISO:LNC |
|
|
Normal platelet fibrinogen
|
DISO:OMIM |
|
|
Caused by mutation in the cAMP-dependent protein kinase, regulatory, type I, alpha gene (PRKAR1A, 188830.0001)
|
DISO:OMIM |
|
|
Infantile form has onset within first 6 months of life
|
DISO:OMIM |
|
|
'Compensated hypothyroidism' with increased TSH and normal T4
|
DISO:OMIM |
|
|
Number of D of training & skill practice in eating or swallowing
|
DISO:LNC |
|
|
Number of D of training & skill practice in eating or swallowing
|
DISO:LNC |
|
|
Mental impairment, mild to moderate
|
DISO:OMIM |
|
|
Caused by mutation in the Aurora kinase C gene (AURKC, 603495.0001)
|
DISO:OMIM |
|
|
Cutaneous albinism, tyrosinase-positive
|
DISO:OMIM |
|
