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| MORM syndrome ： ウィキペディア英語版 |
MORM syndrome
MORM syndrome is an autosomal recessive congenital disorder characterized by mental retardation, truncal obesity, retinal dystrophy, and micropenis". The disorder shares similar characteristics with Bardet-Biedl syndrome and Cohen syndrome, both of which are autosomal recessive genetic disorders.〔 MORM syndrome can be distinguished from the above disorders because of its early age of onset.〔
It is associated with INPP5E.
==Characteristics==
For individuals with MORM syndrome, symptoms do not appear until about one year into the child’s life span.〔 Pregnancy and birth of a patient with MORM syndrome shows no abnormal characteristics.〔 Vision is affected within the first year of life, particularly night vision.〔 Vision quality continues to decrease up until age three.〔 Further reduction in visual acuity is not observed until age thirty to forty.〔 Delayed sentence processing and intellectual disability is associated with individuals with MORM syndrome, primarily observed at age four.〔 Further development continues and truncal obesity can be seen in older children rough ages five to twelve.〔 Males who enter puberty develop normally except their penis will remain at the prepubescent size resulting in a micropenis.〔 The life span of individuals with MORM syndrome is unclear as well as the fertility of these individuals.〔
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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