HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE
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DISO:OMIM |
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TYROSINE KINASE 2 DEFICIENCY
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DISO:OMIM |
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HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE
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DISO:OMIM |
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Small head circumference (lower end of normal)
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DISO:OMIM |
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AUTISM, SUSCEPTIBILITY TO, 11
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DISO:OMIM |
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Small joint laxity (especially hands and elbows)
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DISO:OMIM |
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Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
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DISO:MSH |
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HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY
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DISO:OMIM |
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