A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.
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immunodeficiency-centromeric instability-facial anomalies syndrome
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Neu-Laxova syndrome
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hypercalcemia, infantile
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Ochoa syndrome
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inclusion body myopathy with Paget disease of bone and frontotemporal dementia
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syndromic intellectual disability
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