- Corneal neovascularization (HP:0011496, a Human Phenotype Ontology term): Ingrowth of new blood vessels into the cornea. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:477)
- Abnormality of the dentition (HP:0000164, a Human Phenotype Ontology term): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Prelingual sensorineural hearing impairment (HP:0000399, a Human Phenotype Ontology term): A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Keratitis (HP:0000491, a Human Phenotype Ontology term): Inflammation of the cornea. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Conjunctivitis (HP:0000509, a Human Phenotype Ontology term): Inflammation of the conjunctiva. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Visual loss (HP:0000572, a Human Phenotype Ontology term): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Photophobia (HP:0000613, a Human Phenotype Ontology term): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Sparse eyelashes (HP:0000653, a Human Phenotype Ontology term): Decreased density/number of eyelashes. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Palmoplantar keratoderma (HP:0000982, a Human Phenotype Ontology term): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Keratoconjunctivitis sicca (HP:0001097, a Human Phenotype Ontology term): Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Recurrent skin infections (HP:0001581, a Human Phenotype Ontology term): Infections of the skin that happen multiple times. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Scarring alopecia of scalp (HP:0004552, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Progeroid facial appearance (HP:0005328, a Human Phenotype Ontology term): A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Congenital ichthyosiform erythroderma (HP:0007431, a Human Phenotype Ontology term): An ichthyosiform abnormality of the skin with congenital onset. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- 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: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Sparse hair (HP:0008070, a Human Phenotype Ontology term): Reduced density of hairs. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Nail dystrophy (HP:0008404, a Human Phenotype Ontology term): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Severe sensorineural hearing impairment (HP:0008625, a Human Phenotype Ontology term): A severe form of sensorineural hearing impairment. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Punctate keratitis (HP:0011859, a Human Phenotype Ontology term): A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Epidermal acanthosis (HP:0025092, a Human Phenotype Ontology term): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Limbal stem cell deficiency (HP:0032107, a Human Phenotype Ontology term): A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Scaling skin (HP:0040189, a Human Phenotype Ontology term): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Sparse eyebrow (HP:0045075, a Human Phenotype Ontology term): Decreased density/number of eyebrow hairs. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Corneal erosion (HP:0200020, a Human Phenotype Ontology term): An erosion or abrasion of the cornea's outermost layer of epithelial cells. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Skin plaque (HP:0200035, a Human Phenotype Ontology term): A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:477)
- Hypohidrosis (HP:0000966, a Human Phenotype Ontology term): Abnormally diminished capacity to sweat. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:477)
- Arthritis (HP:0001369, a Human Phenotype Ontology term): Inflammation of a joint. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:477)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:477)
- Onychogryphosis (HP:0001805, a Human Phenotype Ontology term): Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:477)
- Psoriasiform dermatitis (HP:0003765, a Human Phenotype Ontology term): A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:477)
- Recurrent Candida infection (HP:0005401, a Human Phenotype Ontology term): Increased susceptibility to Candida infections as manifested by recurrent episodes of Candida infection. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:477)
- Recurrent bacterial skin infections (HP:0005406, a Human Phenotype Ontology term): Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:477)
- Aplastic/hypoplastic lacrimal glands (HP:0008038, a Human Phenotype Ontology term): Absence or underdevelopment of the lacrimal gland. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:477)
- Postnatal growth retardation (HP:0008897, a Human Phenotype Ontology term): Slow or limited growth after birth. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:477)
- Recurrent cutaneous fungal infections (HP:0011370, a Human Phenotype Ontology term): Increased susceptibility to cutaneous fungal infections as manifested by recurrent episodes of cutaneous fungal infections. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:477)
- Neurodevelopmental delay (HP:0012758, a Human Phenotype Ontology term): Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:477)
- Folliculitis (HP:0025084, a Human Phenotype Ontology term): Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:477)
- Posterior blepharitis (HP:0025610, a Human Phenotype Ontology term): A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:477)
- Angular cheilitis (HP:0030318, a Human Phenotype Ontology term): A type of inflammation of the lips involving one or both of the corners of the mouth. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:477)
- Gingivitis (HP:0000230, a Human Phenotype Ontology term): Inflammation of the gingiva. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Dandy-Walker malformation (HP:0001305, a Human Phenotype Ontology term): A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Cerebellar vermis hypoplasia (HP:0001320, a Human Phenotype Ontology term): Underdevelopment of the vermis of cerebellum. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Abnormal facial shape (HP:0001999, a Human Phenotype Ontology term): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Coxa valga (HP:0002673, a Human Phenotype Ontology term): Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Squamous cell carcinoma (HP:0002860, a Human Phenotype Ontology term): The presence of squamous cell carcinoma of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Patellar hypoplasia (HP:0003065, a Human Phenotype Ontology term): Underdevelopment of the patella. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Knee flexion contracture (HP:0006380, a Human Phenotype Ontology term): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Neoplasm of the skin (HP:0008069, a Human Phenotype Ontology term): A tumor (abnormal growth of tissue) of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Equinus calcaneus (HP:0008138, a Human Phenotype Ontology term): Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Delayed pubic bone ossification (HP:0008788, a Human Phenotype Ontology term): Delayed maturation and calcification of the pubic bone. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Peripheral neuropathy (HP:0009830, a Human Phenotype Ontology term): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Prominent forehead (HP:0011220, a Human Phenotype Ontology term): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Trichilemmoma (HP:0012844, a Human Phenotype Ontology term): A benign tumor originating from the outer root sheath of the hair follicle. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Knee pain (HP:0030839, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Lip fissure (HP:0031250, a Human Phenotype Ontology term): A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Acne inversa (HP:0040154, a Human Phenotype Ontology term): A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Neoplasm of the tongue (HP:0100648, a Human Phenotype Ontology term): A tumor (abnormal growth of tissue) of the tongue. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Sepsis (HP:0100806, a Human Phenotype Ontology term): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Recurrent cutaneous abscess formation (HP:0100838, a Human Phenotype Ontology term): An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
- Skin nodule (HP:0200036, a Human Phenotype Ontology term): Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:477)
These phenotypes are associated with the disease KID syndrome (ORPHA:477, an Orphanet rare-disease identifier).