- Hypertyrosinemia (HP:0003231): An increased concentration of tyrosine in the blood. Evidence: IEA. (OMIM:276600)
- 4-Hydroxyphenylpyruvic aciduria (HP:0003161): Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine. Evidence: IEA. (OMIM:276600)
- 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:276600)
- Elevated urine N-acetyltyrosine level (HP:6000479): The amount of N-acetyltyrosine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. (PMID:20301688)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:276600)
- 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: IEA. (OMIM:276600)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: IEA. (OMIM:276600)
- Herpetiform corneal ulceration (HP:0007812): The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining. Evidence: IEA. (OMIM:276600)
These phenotypes are associated with the disease tyrosinemia type II (OMIM:276600).