- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 2/2. (PMID:24942156)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:24942156)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 2/2. (PMID:24942156)
- Persistence of hemoglobin F (HP:0011904): Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. Evidence: PCS. Frequency: 2/2. (PMID:24942156)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 2/2. (PMID:24942156)
- Unilateral cryptorchidism (HP:0012741): Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/2. (PMID:24942156)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:24942156)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 2/2. (PMID:24942156)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: PCS. Frequency: 2/2. (PMID:24942156)
- Increased mean corpuscular volume (HP:0005518): Larger than normal size of erythrocytes. Evidence: PCS. Frequency: 2/2. (PMID:24942156)
- Elevated red cell adenosine deaminase activity (HP:0030270): Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. Evidence: PCS. (PMID:24942156)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. Frequency: 2/2. (PMID:24942156)
- Macrocytic anemia (HP:0001972): A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). Evidence: PCS. Frequency: 1/2. (PMID:24942156)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: PCS. Frequency: 1/2. (PMID:24942156)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 2/2. (PMID:24942156)
These phenotypes are associated with the disease Diamond-Blackfan anemia 14 with mandibulofacial dysostosis (OMIM:300946).