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Hypoplastic distal humeri
|
DISO:Finding |
|
|
Mental retardation, progressive (50% of patients)
|
DISO:Finding |
|
|
Granular casts | urine sediment
|
DISO:Finding |
|
|
MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4
|
DISO:Disease or Syndrome |
|
|
MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 (disorder)
|
DISO:Disease or Syndrome |
|
|
Episodes typically last 2 to 5 minutes and occur daily or several times per month
|
DISO:Finding |
|
|
Recurrent statements that something terrible is about to happen
|
DISO:Finding |
|
|
Rod-cone dystrophy on ERG (early)
|
DISO:Finding |
|
|
Bidirectional ventricular ectopy
|
DISO:Finding |
|
|
Bidirectional ventricular ectopy
|
DISO:Finding |
|
|
Base deficit | blood venous
|
DISO:Finding |
|
|
Resident perceives that daily routine (customary routine, activities) is very different from prior pattern in the community
|
DISO:Finding |
|
|
Up to 50% of patients may have various additional congenital anomalies
|
DISO:Finding |
|
|
Disintegration of the tubular basement membrane
|
DISO:Finding |
|
