Autosomal recessive acrofacial dysostosis (Q86235)
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Autosomal recessive acrofacial dysostosis is a form of acrofacial dysostosis characterised by the presence of the following clinical manifestations: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, great toes, and developmental delay.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_921104481 |
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| English | Autosomal recessive acrofacial dysostosis |
Autosomal recessive acrofacial dysostosis is a form of acrofacial dysostosis characterised by the presence of the following clinical manifestations: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, great toes, and developmental delay. |
