Английская Википедия:Amaurosis congenita, cone-rod type, with congenital hypertrichosis

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Шаблон:Infobox medical condition

Amaurosis congenita, cone-rod type, with congenital hypertrichosis is a very rare genetic disorder which is characterized by ocular anomalies and trichomegaly. It is inherited in an autosomal recessive manner.[1] Only 2 cases have been described in medical literature.[2]

Signs and symptoms

This is a list of the symptoms that this condition causes:[3][4][5]

Etimology

It has been described in 2 cousins born to consanguineous parents, both of them had the same symptoms.[6]

References

Шаблон:Reflist

Шаблон:Genetic-disorder-stub