Distal 17q deletion (Q101727)
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Chromosome 17q deletion syndrome (deletion of the long arm of chromosome 17) is a very rare chromosomal disorder characterised by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_19213480 |
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| English | Distal 17q deletion |
Chromosome 17q deletion syndrome (deletion of the long arm of chromosome 17) is a very rare chromosomal disorder characterised by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. |
Statements
CID11:ID_19213480
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