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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 07-04-2010 |
Symbol | ITCHD |
Location | 20q11 |
Name | ITCH deficiency |
Corresponding gene | ITCH |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | digestive tract/gastrointestinal |
mental retardation | |
respiratory | |
Type | MCA/MR |
Remark(s) |