Phenotypes associated with the disease hypercarotenemia and vitamin A deficiency, autosomal recessive (OMIM:277350, an entry in Online Mendelian Inheritance in Man):
- Nyctalopia (HP:0000662, a Human Phenotype Ontology term): Inability to see well at night or in poor light. Evidence: IEA. (OMIM:277350)
- Bitot spots of the conjunctiva (HP:0007462, a Human Phenotype Ontology term): Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot. Evidence: IEA. (OMIM:277350)
- Reduced circulating vitamin A concentration (HP:0004905, a Human Phenotype Ontology term): Concentration of vitamin A below the lower limit of normal in the blood circulation. Evidence: IEA. (OMIM:277350)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:277350)
- Follicular hyperkeratosis (HP:0007502, a Human Phenotype Ontology term): A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. Evidence: IEA. (OMIM:277350)