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Items: 2

1.

Nonprogressive visual loss

MedGen UID:
892327
Concept ID:
C4021893
Finding
2.

Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained an autosomal recessive short stature syndrome involving postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see 169400), and normal intelligence. [from OMIM]

MedGen UID:
762020
Concept ID:
C3541319
Disease or Syndrome

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