Human (81 sources):
Abnormal eyelash morphology,
Abnormal toenail morphology,
Abnormality of corneal stroma,
Abnormality of the dentition,
Abnormality of the nail,
Abnormality of the spinal cord,
Abnormality of the tongue,
Absent eyelashes,
Aganglionic megacolon,
Amniotic constriction ring,
Aplasia/Hypoplasia of the eyebrow,
Arthritis,
Autoamputation of digits,
Blindness,
Carious teeth,
Cerebellar hypoplasia,
Cleft palate,
Cognitive impairment,
Corneal erosion,
Corneal neovascularization,
Corneal scarring,
Corneal ulceration,
Cryptorchidism,
Delayed eruption of teeth,
Delayed skeletal maturation,
Dystrophic fingernails,
Dystrophic toenail,
Elbow flexion contracture,
Erythema,
Erythroderma,
Fine hair,
Furrowed tongue,
Generalized hyperkeratosis,
Hearing impairment,
Hemiplegia/hemiparesis,
Honeycomb palmoplantar hyperkeratosis,
Hyperkeratosis,
Hypogonadotropic hypogonadism,
Hypohidrosis,
Hypoplastic fingernail,
Hypoplastic toenails,
Ichthyosis,
Intellectual disability,
Keratitis,
Keratoconjunctivitis sicca,
Knee flexion contracture,
Leukonychia,
Macule,
Nail dysplasia,
Nail dystrophy,
Neoplasm,
Oral leukoplakia,
Osteolysis,
Palmoplantar hyperkeratosis,
Palmoplantar keratoderma,
Papule,
Pes cavus,
Photophobia,
Progressive visual loss,
Punctate keratitis,
Recurrent bacterial skin infections,
Recurrent corneal erosions,
Reduced tendon reflexes,
Scarring alopecia of scalp,
Self-injurious behavior,
Sensorineural hearing impairment,
Severe global developmental delay,
Short stature,
Skin ulcer,
Sparse and thin eyebrow,
Sparse eyelashes,
Sparse hair,
Squamous cell carcinoma,
Squamous cell carcinoma of the skin,
Subcutaneous nodule,
Thickened skin,
Trichiasis,
Urticaria,
Vestibular dysfunction,
Visual impairment,
obsolete Hypotrichosis
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