ectrodactyly Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. (Human Phenotype Ontology, HP_0100257)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005230
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Genes

7 gene mutations causing the ectrodactyly phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
HOXA13 homeobox A13
HOXD13 homeobox D13
IFT122 intraflagellar transport 122
MBD4 methyl-CpG binding domain protein 4
TP63 tumor protein p63