| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H01932
|
Ablepharon-macrostomia syndrome
|
... rare autosomal dominant condition characterized by absent eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. It has been reported that AMS is due to mutations in TWIST2.
|
Congenital malformation
|
|
TWIST2 [HSA:117581] [KO:K09069]
|
|
H01934
|
Barber-Say syndrome
|
... disorder characterized by generalized hypertrichosis especially at the back, other typical abnormalities of the skin, and facial dysmorphisms. It has been reported that BSS is due to mutations in TWIST2.
|
Congenital malformation
|
|
TWIST2 [HSA:117581] [KO:K09069]
|
|
H02083
|
Focal facial dermal dysplasia
|
The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterized by skin lesions resembling aplasia cutis congenita. Four subtypes are classified by the ...
|
Congenital malformation
|
|
(FFDD3) TWIST2 [HSA:117581] [KO:K09069]
(FFDD4) CYP26C1 [HSA:340665] [KO:K12665]
|