- Choanal stenosis (HP:0000452): Abnormal narrowing of the choana (the posterior nasal aperture). Evidence: IEA. (OMIM:241310)
- Coronal craniosynostosis (HP:0004440): Premature closure of the coronal suture of skull. Evidence: IEA. (OMIM:241310)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: IEA. (OMIM:241310)
- Hypoplasia of the maxilla (HP:0000327): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: IEA. (OMIM:241310)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:241310)
- Pursed lips (HP:0000205): An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. Evidence: IEA. (OMIM:241310)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: IEA. (OMIM:241310)
- Aglossia (HP:0012730): Absence of the tongue owing to a developmental abnormality. Evidence: TAS. (OMIM:241310)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: IEA. (OMIM:241310)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:241310)
- Optic disc coloboma (HP:0000588): A cleft of the optic nerve that extends inferiorly. Evidence: IEA. (OMIM:241310)
These phenotypes are associated with the disease hypomandibular faciocranial dysostosis (OMIM:241310).