Abnormality of the face, Absence of subcutaneous fat, Alopecia of scalp, Aminoaciduria, Anemia, Ankyloblepharon, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the nails, Arteriosclerosis, Arthralgia, Arthrogryposis multiplex congenita, Asthma, Astigmatism, Ataxia, Basal cell carcinoma, Bilateral microphthalmos, Bilateral sensorineural hearing impairment, Bird-like facies, Blepharitis, Brittle hair, Cachexia, Camptodactyly of finger, Cardiomyopathy, Carious teeth, Cataract, Cerebral calcification, Cerebral cortical atrophy, Cerebral dysmyelination, Choreoathetosis, Chronic diarrhea, Clubbing, Coarse facial features, Cognitive impairment, Concave nail, Confusion, Congenital exfoliative erythroderma, Congenital nonbullous ichthyosiform erythroderma, Conjunctival telangiectasia, Conjunctivitis, Corneal neovascularization, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Cutaneous photosensitivity, Decreased circulating IgG level, Decreased testicular size, Defective DNA repair after ultraviolet radiation damage, Delayed skeletal maturation, Delayed speech and language development, Demyelinating peripheral neuropathy, Dermal atrophy, Developmental cataract, Developmental regression, Diffuse cerebellar atrophy, Diplopia, Dry skin, Dysarthria, Dysphonia, Dystrophic fingernails, EEG abnormality, Ectropion, Eczematoid dermatitis, Enamel hypoplasia, Entropion, Epicanthus, Erythema, Erythroderma, Esotropia, Everted lower lip vermilion, Failure to thrive, Fatigue, Feeding difficulties in infancy, Fever, Fine hair, Flat nasal alae, Flexion contracture, Fragile nails, Freckling, Gait ataxia, Generalized hyperreflexia, Generalized hypotonia, Generalized-onset seizure, Global developmental delay, Gonadal dysgenesis, Hearing impairment, High, narrow palate, Hydrocephalus, Hyperkeratosis, Hypermelanotic macule, Hypertelorism, Hypogonadism, Hypopigmented skin patches, Hypoplasia of mandible relative to maxilla, Hyporeflexia, Hypotelorism, Hypotonia, Ichthyosis, Increased bone mineral density, Increased mean corpuscular hemoglobin concentration, Intellectual disability, Intellectual disability, progressive, Intention tremor, Intestinal obstruction, Intrauterine growth retardation, Joint dislocation, Joint stiffness, Keratitis, Keratoconjunctivitis sicca, Low-set nipples, Macular degeneration, Macule, Malabsorption, Melanocytic nevus, Melanoma, Mental deterioration, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multiple joint contractures, Myopia, Nail dystrophy, Neoplasm, Neoplasm of the eye, Neutropenia, Numerous pigmented freckles, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Osteopenia, Panhypogammaglobulinemia, Papilloma, Paraplegia/paraparesis, Partial agenesis of the corpus callosum, Peripheral neuropathy, Periventricular leukomalacia, Photophobia, Poikiloderma, Prematurely aged appearance, Prominent metopic ridge, Protruding ear, Psychomotor retardation, Pterygium, Recurrent bronchopulmonary infections, Recurrent infections, Reduced social reciprocity, Reduced tendon reflexes, Retinal degeneration, Retinopathy, Retrognathia, Ridged nail, Seizure, Sensorineural hearing impairment, Severe global developmental delay, Short neck, Short stature, Skin rash, Small for gestational age, Small nail, Sparse hair, Sparse scalp hair, Spasticity, Split nail, Squamous cell carcinoma, Squamous cell carcinoma of the skin, Strabismus, Talipes equinovarus, Telangiectasia, Telangiectasia of the skin, Thickened skin, Thin skin, Thoracic kyphosis, Tiger tail banding, Triangular mouth, Trichorrhexis nodosa, Umbilical hernia, Urticaria, Ventricular septal defect, Ventriculomegaly, Visual impairment, Wide nasal bridge, obsolete Bronchospasm, obsolete Hypotrichosis

decreased erythrocyte cell number, decreased exploration in new environment, decreased hematocrit, decreased hemoglobin content, decreased tumor latency, disproportionate dwarf, embryonic lethality before implantation, complete penetrance, enlarged hair follicles, enlarged sebaceous gland, focal dorsal hair loss, greasy coat, growth/size/body region phenotype, hematopoietic system phenotype, immune system phenotype, increased cellular sensitivity to ultraviolet irradiation, increased incidence of induced tumors, increased incidence of tumors by UV-induction, increased incidence of tumors by chemical induction, increased skin tumor incidence, integument phenotype, limb grasping, microgliosis, nervous system phenotype, premature aging, premature death, reduced female fertility, reproductive system phenotype, rough coat, skeleton phenotype, skin photosensitivity, thick skin, vacuolated lens, white spotting