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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 18-03-2009 |
Symbol | OTDD |
Location | 11q13 |
Name | otodental dysplasia |
Corresponding gene | FGF3 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | ear |
digestive tract/liver and annex | |
Type | malformation |
Remark(s) |
Genotype/Phenotype correlations | additional hemizygous deletion of FADD, TMEM16A and C11orf78 in OTDD with coloboma |