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Items: 6

1.

Electroretinographic (ERG) finding

MedGen UID:
607266
Concept ID:
C0429401
Finding
2.

Leber congenital amaurosis type 3

MedGen UID:
419398
Concept ID:
C2931386
Disease or Syndrome
3.

S wave - finding

MedGen UID:
709553
Concept ID:
C1287079
Finding
4.

Optic atrophy and cataract, autosomal dominant

A form of autosomal dominant optic atrophy with characteristics of early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. Caused by mutations in the OPA3 gene (19q13.32). [from SNOMEDCT_US]

MedGen UID:
371657
Concept ID:
C1833809
Disease or Syndrome
5.

Prominent U wave

MedGen UID:
369497
Concept ID:
C1969408
Finding
6.

Decreased light- and dark-adapted electroretinogram amplitude

Descreased amplitude of eletrical response upon electroretinography. [from HPO]

MedGen UID:
326793
Concept ID:
C1839025
Finding
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