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chromosome 21, uniparental disomy of
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C536794 |
|
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mental retardation unusual facies hypothyroidism
|
C536717 |
|
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xeroderma pigmentosum, type 9
|
C536765 |
|
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craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus
|
C536790 |
|
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sensory neuropathy with deafness and dementia
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C536749 |
|
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fibromatosis, gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly
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C536725 |
|
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Radial-ulnar hypoplasia with bone marrow failure and-or leukemia
|
C536751 |
|
|
mental retardation, x-linked, with congenital contractures and low fingertip arches
|
C536703 |
|
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fatal infantile, with olivopontocerebellar hypoplasia encephalopathy
|
C536716 |
|
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type 9 xeroderma pigmentosum
|
C536765 |
|
|
variant type xeroderma pigmentosum
|
C536766 |
|
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trisomy xpter xq13 x chromosome
|
C536731 |
|
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sensorineural deafness with pituitary dwarfism
|
C536710 |
|
