Phenotypes associated with the disease Choroidal atrophy-alopecia syndrome (ORPHA:1433):
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1433)
- Ectodermal dysplasia (HP:0000968): Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1433)
- Abnormal fingernail morphology (HP:0001231): An abnormality of the fingernails. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1433)
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1433)
- Abnormal retinal pigmentation (HP:0007703): Any deviation from the normal pigmentation of the retina. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1433)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1433)
- Abnormal toenail morphology (HP:0008388): An anomaly of the toenail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1433)
- Ungual fibroma (HP:0100804): Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1433)
- Sparse or absent eyelashes (HP:0200102). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1433)
- Supernumerary nipple (HP:0002558): Presence of more than two nipples. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1433)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1433)
- Patchy atrophy of the retinal pigment epithelium (HP:0007791): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) that occurs in small, isolated areas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1433)
- Ridged fingernail (HP:0008402): Longitudinal, linear prominences in the fingernail plate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1433)
- Bifid nail (HP:0010793): A digit with two nails, with at least some soft tissue between them. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1433)
- Glue ear (HP:0040262): Middle ear is filled with glue-like fluid instead of air. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1433)
- Thin eyebrow (HP:0045074): Decreased diameter of eyebrow hairs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1433)