- Abnormality of the hand (HP:0001155): An abnormality affecting one or both hands. Evidence: PCS. Frequency: 0/1. (PMID:28061825)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: PCS. Frequency: 0/1. (PMID:35996915)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:12445216)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: PCS. Frequency: 0/1. (PMID:35996915)
- Subretinal deposits (HP:0031528): Deposits accumulating between the outer retina and the retinal pigment epithelium. Evidence: PCS. Frequency: 1/1. (PMID:35996915)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: PCS. Frequency: 1/1. (PMID:28061825)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 12/12. (PMID:28061825;PMID:11544476)
- Reduced terminal:vellus ratio (HP:0032497): A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia. Evidence: PCS. (PMID:12445216)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 11/11. Onset: Infantile onset (HP:0003593). (PMID:11544476)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 4/4. Onset: Infantile onset (HP:0003593). (PMID:12445216)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 1/1. (PMID:28061825)
- Epidermoid cyst (HP:0200040): Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. A central, dark comedone opening (punctum) may be present. Evidence: PCS. Frequency: 1/1. (PMID:28061825)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:35996915)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: PCS. Onset: Adult onset (HP:0003581). (PMID:12445216)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 3/3. (PMID:28061825;PMID:12445216;PMID:35996915)
- Macular atrophy (HP:0007401): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula. Evidence: PCS. Frequency: 1/1. (PMID:28061825)
- 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: 1/1. (PMID:28061825)
- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: PCS. Frequency: 0/1. (PMID:28061825)
- Absent sebaceous glands (HP:0410400): Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts. Evidence: PCS. Frequency: 1/1. (PMID:28061825)
- Macular hyperpigmentation (HP:0011509): Increased amount of pigmentation in the macula. Evidence: PCS. Frequency: 1/1. (PMID:28061825)
- Abnormal dental morphology (HP:0006482): An abnormality of the morphology of the tooth. Evidence: PCS. Frequency: 0/1. (PMID:28061825)
- Macular degeneration (HP:0000608): A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. Evidence: PCS. Frequency: 11/11. Onset: Juvenile onset (HP:0003621). (PMID:11544476)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 1/1. (PMID:35996915)
- 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. Frequency: 20/20. (PMID:12445216;PMID:11544476)
- Choriocapillaris atrophy (HP:0030491): Atrophy of the capillary lamina of choroid. Evidence: PCS. Frequency: 1/1. (PMID:35996915)
- Macular dystrophy (HP:0007754): Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin. Evidence: PCS. Frequency: 1/1. (PMID:12445216)
- Pili torti (HP:0003777): Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. Evidence: PCS. Frequency: 12/12. (PMID:28061825;PMID:12445216;PMID:11544476)
These phenotypes are associated with the disease congenital hypotrichosis with juvenile macular dystrophy (OMIM:601553).