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Patients have coloboma of the iris or retina and simple malformed ears (small ears, cup-shaped, lop ears). Facial nerve palsy may lead to facial asymmetry. Micrognathia and microcephaly may also be present. Patients may have a spectrum of T-cell immune deficiency that may range from mild T-cell lymphopenia to an almost complete absence of T-cells resulting in a severe combined immune deficiency phenotype.
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