Rare – Page 123 – CheckOrphan

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Mental retardation short stature microcephaly eye

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Mental retardation short stature ocular and articular anomalies

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Mental retardation short stature scoliosis

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Familial periodic paralysis

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Desmoplastic cerebral astrocytoma of infancy

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Osteopoikilosis

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Leukoencephalopathy- arthritis- colitis- and hypogammaglobulinema

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Leukoencephalopathy palmoplantar keratoderma

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Leukomelanoderma mental redardation hypotrichosis

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Leukomalacia

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