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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 14-10-2009 |
Symbol | HRD |
Location | 1q42.3 |
HGNC id | 5179 |
Name | hypoparathyroidism-retardation-dysmorphism syndrome |
Other name(s) |
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Corresponding gene | TBCE |
Other symbol(s) | SSS |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | osteo-articular |
mental retardation | |
neurology | |
Type | disease |
Remark(s) |