- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/4. (PMID:23522491;PMID:21055716;PMID:29200155)
- 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: 1/2. (PMID:21055716)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: PCS. Frequency: 1/2. (PMID:21055716)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/3. (PMID:23522491;PMID:21055716)
- Increased RBC distribution width (HP:0031965): Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage. Evidence: PCS. Frequency: 1/1. (PMID:28265383)
- Erythroid hyperplasia (HP:0012132): Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. Evidence: PCS. Frequency: 3/4. (PMID:23522491;PMID:21055716;PMID:29200155)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 5/5. (PMID:28265383;PMID:23522491;PMID:21055716;PMID:29200155)
- Fetal onset (HP:0011461): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 1/2. (PMID:21055716)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: PCS. Frequency: 1/4. (PMID:28265383;PMID:23522491;PMID:21055716)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:28265383)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: PCS. Frequency: 13/13. (PMID:28265383;PMID:23522491;PMID:21055716;PMID:29200155)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: PCS. Frequency: 1/1. (PMID:28265383)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/3. (PMID:23522491;PMID:21055716)
- Decreased circulating haptoglobin concentration (HP:0020181): The concentration of haptoglobin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:28265383)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:28265383)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: PCS. Frequency: 1/2. (PMID:21055716)
- Decreased hemoglobin concentration (HP:0020062): An abnormal reduction below normal hemoglobin concentration in the circulation. Evidence: PCS. Frequency: 1/1. (PMID:28265383)
- Schistocytosis (HP:0001981): The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. Evidence: PCS. Frequency: 1/1. (PMID:23522491)
- 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: 2/3. (PMID:21055716;PMID:29200155)
- Anemia of inadequate production (HP:0010972): A kind of anemia characterized by inadequate production of erythrocytes. Evidence: PCS. (PMID:21055716)
- Reduced hematocrit (HP:0031851): A reduction below the normal ratio of the volume of red blood cells to the total volume of blood. Evidence: PCS. Frequency: 1/1. (PMID:28265383)
- Anisocytosis (HP:0011273): Abnormally increased variability in the size of erythrocytes. Evidence: PCS. Frequency: 2/2. (PMID:28265383;PMID:23522491)
- Unconjugated hyperbilirubinemia (HP:0008282): An increased amount of unconjugated (indirect) bilurubin in the blood. Evidence: PCS. Frequency: 2/2. (PMID:28265383;PMID:23522491)
- Circulating nucleated red blood cells (HP:0033281): The presence of nucleated red blood cells in the peripheral blood circulation. Evidence: PCS. Frequency: 3/4. (PMID:23522491;PMID:21055716;PMID:29200155)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: PCS. Frequency: 1/2. (PMID:21055716)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: PCS. Frequency: 2/3. (PMID:23522491;PMID:21055716)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: PCS. Frequency: 2/3. (PMID:28265383;PMID:21055716)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 1/2. (PMID:21055716)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 1/1. (PMID:23522491)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. Frequency: 2/2. (PMID:28265383;PMID:29200155)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: PCS. Frequency: 1/1. (PMID:21055716)
- 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: PCS. (PMID:21055716)
- Poikilocytosis (HP:0004447): The presence of abnormally shaped erythrocytes. Evidence: PCS. Frequency: 2/2. (PMID:28265383;PMID:23522491)
These phenotypes are associated with the disease congenital dyserythropoietic anemia type 4 (OMIM:613673).