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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 3/07/2006 |
Symbol | IGHD1 |
Location | 17q24 |
Name | pituitary dwarfism 1 |
Other name(s) |
|
Corresponding gene | GH1 |
Other symbol(s) | IGHD1A, IGHD1B |
Main clinical features | dwarfism with normal body proportions ateleiotic |
Genetic determination | autosomal recessive |
Related entries | . rare dominant forms including Illig-type growth hormone deficiency and Kowarski type with bioinactive GH |
Function/system disorder | endocrinology |
Type | disease |
Gene product |
Name | growth hormone N (GH1) |