Abnormal pinna morphology, Abnormal preputium morphology, Abnormal renal morphology, Abnormal testis morphology, Abnormal thumb morphology, Abnormality of amino acid metabolism, Abnormality of blood and blood-forming tissues, Abnormality of chromosome stability, Abnormality of extrapyramidal motor function, Abnormality of femur morphology, Abnormality of skin pigmentation, Abnormality of the dentition, Abnormality of the hypothalamus-pituitary axis, Abnormality of the liver, Abnormality of the menstrual cycle, Abnormality of the orbital region, Abnormality of the ulna, Abnormality of the upper limb, Abnormality of the urinary system, Abnormality of the uterus, Abnormality of vision, Abnormality of visual evoked potentials, Absence of subcutaneous fat, Absent testis, Absent thumb, Aganglionic megacolon, Almond-shaped palpebral fissure, Aminoaciduria, Anal atresia, Anemia, Anhidrosis, Ankyloblepharon, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the uvula, Arrhythmia, Arteriosclerosis, Arteriovenous malformation, Arthralgia, Ascites, Astigmatism, Ataxia, Atrial septal defect, Atypical scarring of skin, Azoospermia, Basal cell carcinoma, Basal ganglia calcification, Bicornuate uterus, Biliary atresia, Blepharitis, Bone marrow hypocellularity, Brain atrophy, Cachexia, Carious teeth, Cataract, Cerebral atrophy, Cerebral cortical atrophy, Choanal atresia, Chromosome breakage, Cleft palate, Clinodactyly of the 5th finger, Clubbing of toes, Cognitive impairment, Confusion, Conjunctival telangiectasia, Convex nasal ridge, Cranial nerve paralysis, Craniofacial hyperostosis, Cryptorchidism, Cutaneous photosensitivity, Decreased body weight, Decreased fertility in males, Decreased lacrimation, Decreased nerve conduction velocity, Decreased testicular size, Deeply set eye, Defective DNA repair after ultraviolet radiation damage, Delayed eruption of primary teeth, Delayed skeletal maturation, Dementia, Demyelinating peripheral neuropathy, Dental malocclusion, Dermal atrophy, Developmental regression, Diplopia, Dolichocephaly, Dry hair, Dry skin, Duodenal stenosis, Dysarthria, EEG abnormality, Ectropion, Elevated circulating hepatic transaminase concentration, Enamel hypoplasia, Entropion, Epicanthus, Erythema, Esophageal atresia, Facial asymmetry, Failure to thrive, Fatigue, Fever, Finger syndactyly, Flat nasal alae, Flexion contracture, Freckling, Frontal bossing, Gait disturbance, Global developmental delay, Growth delay, Hearing abnormality, Hearing impairment, Hepatomegaly, High palate, High pitched voice, Hip dislocation, Hydrocephalus, Hydroureter, Hyperkeratosis, Hypermelanotic macule, Hypermetropia, Hyperreflexia, Hypertelorism, Hypertension, Hypertrophic cardiomyopathy, Hypogonadism, Hypopigmented skin patches, Hypoplasia of teeth, Hypoplasia of the ulna, Hypoplastic iliac wing, Hypoplastic pelvis, Hypospadias, Increased cellular sensitivity to UV light, Intellectual disability, Intellectual disability, mild, Intellectual disability, progressive, Intrauterine growth retardation, Irregular hyperpigmentation, Ivory epiphyses of the phalanges of the hand, Keratitis, Kyphosis, Leukopenia, Limitation of joint mobility, Loss of facial adipose tissue, Low-set ears, Macule, Mandibular prognathia, Meckel diverticulum, Melanocytic nevus, Melanoma, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Morphological central nervous system abnormality, Multiple cafe-au-lait spots, Muscle weakness, Myelodysplasia, Narrow face, Neoplasm, Neoplasm of the eye, Neoplasm of the skin, Normal pressure hydrocephalus, Numerous pigmented freckles, Nystagmus, Oligohydramnios, Opacification of the corneal stroma, Optic atrophy, Papilloma, Papule, Patchy demyelination of subcortical white matter, Patent ductus arteriosus, Peripheral dysmyelination, Peripheral neuropathy, Pes planus, Photophobia, Pigmentary retinopathy, Poikiloderma, Polyneuropathy, Poor coordination, Prematurely aged appearance, Progeroid facial appearance, Prominent supraorbital ridges, Proptosis, Proteinuria, Pterygium, Ptosis, Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Reduced bone mineral density, Reduced subcutaneous adipose tissue, Reduced tendon reflexes, Renal hypoplasia/aplasia, Renal insufficiency, Retinal pigment epithelial mottling, Retinopathy, Scoliosis, Seborrheic keratosis, Seizure, Sensorineural hearing impairment, Severe postnatal growth retardation, Severe short stature, Short palpebral fissure, Short stature, Skin rash, Slender nose, Sloping forehead, Sparse hair, Spasticity, Spina bifida, Splenomegaly, Squamous cell carcinoma of the skin, Square pelvis bone, Strabismus, Telangiectasia, Telangiectasia of the skin, Tetralogy of Fallot, Thickened calvaria, Thickened skin, Thin skin, Thrombocytopenia, Thymic hormone decreased, Toe syndactyly, Tracheoesophageal fistula, Tremor, Triphalangeal thumb, Umbilical hernia, Upslanted palpebral fissure, Urticaria, Ventriculomegaly, Visual impairment, Weight loss, obsolete External ear malformation, obsolete Hypotrichosis