Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 18/07/2006 |
Symbol | LPCN |
Location | 19p13.2 |
Name | leprechaunism |
Other name(s) |
|
Corresponding gene | INSR |
Main clinical features | apparent cessation of growth at about the seventh month of gestation, peculiar facies creating a gnomelike appearance and leading to the designation, and severe endocrine disturbance indicated by emaciation, enlargement of breasts and clitoris, and histologic changes in the ovaries, pancreas and breasts |
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/carbohydrates |
Type | disease |
Gene product |
Name | insulin receptor (INSR) |
Remark(s) |