| 词条 | Zamzam–Sheriff–Phillips syndrome |
| 释义 |
Zamzam–Sheriff–Phillips syndrome is a rare[1] autosomal recessive congenital disorder. It is characterized by aniridia, ectopia lentis, abnormal upper incisors and intellectual disability.[2] Not a lot of research has been undertaken of this particular disease so thus far there is no known gene that affects this condition. However it has been hypothesised that the symptoms described are found at a particular gene, though intellectual disability is believed to be due to a different genetic cause. Consanguinuity (intermarrying among relatives such as cousins), often associated with autosomal recessive inheritance, has been attributed to the inheritance of this disease.[3] References1. ^{{RareDiseases|339|Zazam Sheriff Phillips syndrome; Aniridia, lens luxation, mental retardation}} 2. ^Birth Disorder Information Directory - Z 3. ^{{cite journal |vauthors=Zamzam AM, Sheriff SM, Phillips CI |title=Aniridia, ectopia lentis, abnormal upper incisors and mental retardation--an autosomal recessive syndrome |journal=Jpn. J. Ophthalmol. |volume=32 |issue=4 |pages=375–8 |year=1988 |pmid=3266265 |doi=}} {{congenital malformations and deformations of eye, ear, face and neck}}{{DEFAULTSORT:Zamzam-Sheriff-Phillips syndrome}}{{genetic-disorder-stub}} 5 : Autosomal recessive disorders|Rare diseases|Congenital disorders|Syndromes|Genetic disorders with no OMIM |
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