Phenotypes associated with the disease anemia, congenital dyserythropoietic, type 1a (OMIM:224120):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:32160409)
- Schistocytosis (HP:0001981): The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. Evidence: PCS. Frequency: 1/1. (PMID:32160409)
- Mild postnatal growth retardation (HP:0001530): A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. Evidence: IEA. (OMIM:224120)
- Macrocytic dyserythropoietic anemia (HP:0005532). Evidence: IEA. (OMIM:224120)
- Endopolyploidy on chromosome studies of bone marrow (HP:0003352): An increase in the number of chromosome sets per cell in bone marrow cells. Evidence: IEA. (OMIM:224120)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:32160409)
- Anemia of inadequate production (HP:0010972): A kind of anemia characterized by inadequate production of erythrocytes. Evidence: IEA. (OMIM:224120)
- Erythroid hyperplasia (HP:0012132): Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. Evidence: PCS. Frequency: 1/1. (PMID:32160409)
- Anisocytosis (HP:0011273): Abnormally increased variability in the size of erythrocytes. Evidence: TAS. (OMIM:224120)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: PCS. Frequency: 1/1. (PMID:32160409)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: PCS. Frequency: 1/1. (PMID:32160409)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: PCS. Frequency: 1/1. (PMID:32160409)
- 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: IEA. (OMIM:224120)
- Bite cells (HP:0020122): Red blood cells that appear to have parts of them bitten away. Evidence: PCS. Frequency: 1/1. (PMID:32160409)
- 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: PCS. (PMID:12434312)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: TAS. (OMIM:224120)
- 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:32160409)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:224120)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. (OMIM:224120)
- Reduced level of N-acetylglucosaminyltransferase II (HP:0003655): An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity. Evidence: IEA. (OMIM:224120)
- Prolonged neonatal jaundice (HP:0006579): Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. Evidence: IEA. (OMIM:224120)
- Poikilocytosis (HP:0004447): The presence of abnormally shaped erythrocytes. Evidence: TAS. (OMIM:224120)