OFD1
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Ciliopathies and respiratory disease
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Syndromic hearing loss
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Retinopathy
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X-linked intellectual disability
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Ataxia
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Polycystic kidney disease
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Idiopathic renal failure early onset
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Kidney pathology comprehensive panel
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Congenital hepatic fibrosis
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Congenital cardiopathies
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Leukodystrophy- White Matter Disease Early Onset
