- Encephalopathy (HP:0001298): Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. Evidence: PCS. Frequency: 0/2. (PMID:35362222)
- Gingivitis (HP:0000230): Inflammation of the gingiva. Evidence: PCS. Frequency: 2/2. (PMID:35362222)
- Easy fatigability (HP:0003388): Increased susceptibility to fatigue. Evidence: PCS. Frequency: 1/1. (PMID:35362222)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 2/2. (PMID:35362222)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: PCS. Frequency: 1/1. (PMID:35362222)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 1/2. (PMID:35362222)
- Angular cheilitis (HP:0030318): A type of inflammation of the lips involving one or both of the corners of the mouth. Evidence: PCS. Frequency: 2/2. (PMID:35362222)
- Decreased serum zinc (HP:0031831): A reduced concentration of zinc in the blood. Evidence: PCS. Frequency: 1/2. (PMID:35362222)
- Stomatitis (HP:0010280): Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. Evidence: PCS. Frequency: 1/2. (PMID:35362222)
- Ichthyosis (HP:0008064): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: PCS. Frequency: 2/2. (PMID:35362222)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 2/2. (PMID:35362222)
- Paronychia (HP:0001818): The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Evidence: PCS. Frequency: 2/2. (PMID:35362222)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 2/2. (PMID:35362222)
- 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:35362222)
- Abnormal circulating acylcarnitine concentration (HP:0012071): Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. Evidence: PCS. Frequency: 0/1. (PMID:35362222)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 1/1. (PMID:35362222)
- Follicular hyperkeratosis (HP:0007502): 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: PCS. Frequency: 2/2. (PMID:35362222)
- Psoriasiform dermatitis (HP:0003765): A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). Evidence: PCS. Frequency: 2/2. (PMID:35362222)
These phenotypes are associated with the disease cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome (OMIM:621252).