duplication xq13 1 q21 1 x chromosome
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C536753 |
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complementation group 1 xeroderma pigmentosum
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C536765 |
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X-linked, syndromic 6 mental retardation
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C536708 |
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zeta-associated protein 70 deficiency
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C536722 |
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wittwer tpe X-linked mental retardation syndrome
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C536760 |
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mental retardation X-linked severe gustavson type
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C536759 |
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corpus callosum agenesia, and mental retardation white matter hypoplasia
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C536701 |
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systemic necrotizing angiitis
|
C536779 |
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gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly fibromatosis
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C536725 |
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ectopia lentis, abnormal upper incisors and mental retardation aniridia
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C536723 |
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forebrain defects and facial clefts brachial amelia
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C536713 |
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forebrain defects, and facial clefts brachial amelia
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C536713 |
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systemic necrotizing angitis
|
C536779 |
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dandy-walker malformation, and hydrocephalus sagittal craniosynostosis
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C536790 |
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hearing loss ankle anomalies and neurological regression-dementia
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C536749 |
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