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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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zori stalker williams syndrome
|
C536728 |
|
|
fibromatosis, gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly
|
C536725 |
|
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Radial-ulnar hypoplasia with bone marrow failure and-or leukemia
|
C536751 |
|
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craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus
|
C536790 |
|
|
sensory neuropathy with deafness and dementia
|
C536749 |
|
|
fatal infantile, with olivopontocerebellar hypoplasia encephalopathy
|
C536716 |
|
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sensorineural deafness with pituitary dwarfism
|
C536710 |
|
|
endosteal hyperostosis worth type
|
C536748 |
|
|
autosomal dominant worth type with torus palatinus osteosclerosis
|
C536748 |
|
|
trisomy xq25 x chromosome
|
C536733 |
|
|
monosomy xq28 x chromosome
|
C536755 |
|
