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Items: 4

1.

Oculoauricular syndrome

Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage (summary by Gillespie et al., 2015). [from OMIM]

MedGen UID:
393758
Concept ID:
C2677500
Disease or Syndrome
2.

Iris pigment epithelium anomalies

MedGen UID:
357091
Concept ID:
C1866608
Disease or Syndrome
3.

Intellectual developmental disorder with ocular anomalies and distinctive facial features

Intellectual developmental disorder with ocular anomalies and distinctive facial features (IDDOF) is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features (Huang et al., 2022). [from OMIM]

MedGen UID:
1824011
Concept ID:
C5774238
Disease or Syndrome
4.

Iris cyst

An iris cyst is composed of a single cell layer of epithelium and is filled with fluid. [from HPO]

MedGen UID:
124385
Concept ID:
C0271119
Disease or Syndrome; Finding
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