Presentation
Mutations in this gene can also cause a more severe form of the syndrome, which presents with micromelia. It is inherited in an autosomal recessive pattern. Skip the waiting lines. Get faster access to accurate genetic analysis. Start Here! [fdna.health]
Ears
- Low Set Ears
Facial dysmorphic features were broad and beaked nose, short palpebral fissures, microstomia, micrognathia, low-set ears, and short neck. [fdna.health]