Arthralgia, Arthrogryposis multiplex congenita, Ataxia, Basal cell carcinoma, Blepharitis, Cachexia, Camptodactyly of finger, Cataract, Cerebral calcification, Cerebral cortical atrophy, Cleft palate, Cognitive impairment, Confusion, Conjunctival telangiectasia, Craniofacial hyperostosis, Cryptorchidism, Cutaneous photosensitivity, Decreased fetal movement, Decreased testicular size, Defective DNA repair after ultraviolet radiation damage, Delayed skeletal maturation, Demyelinating peripheral neuropathy, Dermal atrophy, Developmental regression, Diplopia, Dry skin, Dysarthria, EEG abnormality, Ectropion, Edema, Entropion, Erythema, Everted lower lip vermilion, Failure to thrive, Fatigue, Feeding difficulties in infancy, Fever, Flat nasal alae, Freckling, Global developmental delay, Growth delay, Hearing impairment, Hydrocephalus, Hyperkeratosis, Hypermelanotic macule, Hypogonadism, Hypopigmented skin patches, Hypotonia, Intellectual disability, Intellectual disability, progressive, Intrauterine growth retardation, Joint stiffness, Keratitis, Low-set ears, Macule, Melanocytic nevus, Melanoma, Microcephaly, Micrognathia, Microphthalmia, Neoplasm, Neoplasm of the eye, Numerous pigmented freckles, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Papilloma, Peripheral neuropathy, Pes cavus, Photophobia, Poikiloderma, Prematurely aged appearance, Prominent metopic ridge, Pterygium, Reduced tendon reflexes, Retinopathy, Rocker bottom foot, Seizure, Sensorineural hearing impairment, Severe global developmental delay, Short neck, Short stature, Skin rash, Spasticity, Squamous cell carcinoma of the skin, Strabismus, Talipes equinovarus, Telangiectasia, Telangiectasia of the skin, Thickened skin, Thin skin, Tremor, Urticaria, Visual impairment, Wide nasal bridge, obsolete Hypotrichosis

decreased spleen weight, delayed intestine development, growth/size/body region phenotype, increased mean corpuscular hemoglobin, increased mean corpuscular hemoglobin concentration, phototoxicity, postnatal lethality, complete penetrance, premature death, preweaning lethality, complete penetrance, small liver, small stomach