Phenotypes associated with the disease intrinsic factor and r binder, combined congenital deficiency of (OMIM:243320):
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: IEA. (OMIM:243320)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:243320)
- Megaloblastic anemia (HP:0001889): Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). Evidence: IEA. (OMIM:243320)
- 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:243320)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:243320)
- Absence of intrinsic factor (HP:0005219): Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. Evidence: IEA. (OMIM:243320)