- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: PCS. Frequency: 3/60. (PMID:10590074;PMID:10753603)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: IEA. (OMIM:105650)
- Thrombocytosis (HP:0001894): Increased numbers of platelets in the peripheral blood. Evidence: PCS. Frequency: 21/38. (PMID:7267232)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: PCS. Frequency: 2/55. (PMID:10590074)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 26/70. (PMID:10590074;PMID:10753603;PMID:35923690)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: IEA. (OMIM:105650)
- Tricuspid stenosis (HP:0010446): A narrowing of the orifice of the tricuspid valve of the heart. Evidence: PCS. Frequency: 2/55. (PMID:10590074)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/10. (PMID:35923690)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/10. (PMID:35923690)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 2/15. (PMID:10753603;PMID:35923690)
- 11 pairs of ribs (HP:0000878): Presence of only 11 pairs of ribs. Evidence: IEA. (OMIM:105650)
- Partial duplication of thumb phalanx (HP:0009944): A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. Evidence: IEA. (OMIM:105650)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: IEA. (OMIM:105650)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 2/55. (PMID:10590074)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/10. (PMID:35923690)
- 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: IEA. (OMIM:105650)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: IEA. (OMIM:105650)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/55. (PMID:10590074)
- Colon cancer (HP:0003003). Evidence: PCS. Frequency: 2/10. (PMID:35923690)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: PCS. Frequency: 1/10. (PMID:35923690)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 1/10. (PMID:35923690)
- Absent thumb (HP:0009777): Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. Evidence: IEA. (OMIM:105650)
- Osteosarcoma (HP:0002669): A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. Evidence: IEA. (OMIM:105650)
- 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. Frequency: 8/9. (PMID:35923690)
- Primary congenital glaucoma (HP:0008007). Evidence: PCS. Frequency: 2/55. (PMID:10590074)
- Reticulocytopenia (HP:0001896): A reduced number of reticulocytes in the peripheral blood. Evidence: TAS. (OMIM:105650)
- Hypoplastic coccygeal vertebrae (HP:0008447). Evidence: IEA. (OMIM:105650)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: IEA. (OMIM:105650)
- 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: 8/10. (PMID:35923690)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:105650)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: IEA. (OMIM:105650)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: TAS. (OMIM:105650)
- Myelodysplasia (HP:0002863): Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Evidence: IEA. (OMIM:105650)
- Triphalangeal thumb (HP:0001199): A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. Evidence: PCS. Frequency: 2/55. (PMID:10590074)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 5/10. (PMID:35923690)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: IEA. (OMIM:105650)
- Spina bifida occulta (HP:0003298): The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. Evidence: PCS. Frequency: 1/10. (PMID:35923690)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:105650)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 2/55. (PMID:10590074)
- Hypoplastic sacral vertebrae (HP:0008475). Evidence: IEA. (OMIM:105650)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: IEA. (OMIM:105650)
- Bifid thoracic vertebrae (HP:0008437). Evidence: IEA. (OMIM:105650)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: IEA. (OMIM:105650)
- Depressed nasal ridge (HP:0000457): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: IEA. (OMIM:105650)
- Congenital hypoplastic anemia (HP:0004810): A type of hypoplastic anemia with congenital onset. Evidence: TAS. (OMIM:105650)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: IEA. (OMIM:105650)
- Parietal foramina (HP:0002697): The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide. Evidence: IEA. (OMIM:105650)
- Small thenar eminence (HP:0001245): Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. Evidence: PCS. Frequency: 7/10. (PMID:35923690)
- Delayed cranial suture closure (HP:0000270): Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. Evidence: IEA. (OMIM:105650)
- 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: 6/9. (PMID:35923690)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: IEA. (OMIM:105650)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: IEA. (OMIM:105650)
- Hypoplastic ilia (HP:0000946): Underdevelopment of the ilium. Evidence: IEA. (OMIM:105650)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: IEA. (OMIM:105650)
- Increased mean corpuscular volume (HP:0005518): Larger than normal size of erythrocytes. Evidence: PCS. Frequency: 8/9. (PMID:35923690)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. (OMIM:105650)
- 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: PCS. Frequency: 2/55. (PMID:10590074)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 12/38. (PMID:7267232)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: IEA. (OMIM:105650)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:105650)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:1918400)
These phenotypes are associated with the disease Diamond-Blackfan anemia 1 (OMIM:105650).