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hypotonia
Retinitis Pigmentosa and Mental Retardation
Chorioretinal dysplasia, lymphedema, and microcephaly
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Cataracts, Ataxia, Short Stature, and Mental Retardation
RAB18 Deficiency
Pierson Syndrome
GM1 Gangliosidosis
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Lowe Oculocerebrorenal Syndrome
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Smith-Lemli-Opitz Syndrome
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Cerebrooculofacioskeletal Syndrome
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Homocystinuria, MTHFR Deficiency
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Pagination
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