craniofacial
• in double heterozygotes, the frontal foramen phenotype is 3x more severe than in either single heterozygote
|
limbs/digits/tail
polydactyly
(
J:87044
)
• in double heterozygotes, the incidence of digit duplication is identical to that observed in Twist1tm1Bhr heterozygotes (34%)
|
skeleton
• in double heterozygotes, the frontal foramen phenotype is 3x more severe than in either single heterozygote
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Saethre-Chotzen syndrome | DOID:14768 |
OMIM:101400 OMIM:180750 |
J:87044 |