Abnormality of pelvic girdle bone morphology, Abnormality of temperature regulation, Abnormality of the dentition, Abnormality of the gingiva, Abnormality of the hand, Abnormality of the kidney, Abnormality of the nail, Abnormality of the tongue, Abnormality of the upper urinary tract, Abnormality of the vertebral column, Absent eyebrow, Absent eyelashes, Absent septum pellucidum, Aganglionic megacolon, Agenesis of corpus callosum, Anhidrosis, Ankylosis, Astigmatism, Biconcave vertebral bodies, Blepharitis, Blue sclerae, Brain atrophy, Camptodactyly of finger, Carious teeth, Cerebellar hypoplasia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Cheilitis, Choanal atresia, Cleft palate, Conjunctivitis, Convex nasal ridge, Corneal dystrophy, Corneal erosion, Corneal opacity, Cryptorchidism, Decreased testicular size, Delayed skeletal maturation, Dementia, Developmental regression, Dry skin, Dystrophic fingernails, Ectodermal dysplasia, Ectrodactyly, Ectropion, Eczematoid dermatitis, Episcleritis, Erythema, Erythroderma, Facial erythema, Failure to thrive, Feeding difficulties, Follicular hyperkeratosis, Folliculitis, Frontal bossing, Global developmental delay, Growth delay, Hearing impairment, Heat intolerance, Hemivertebrae, Hip dislocation, Hydrocephalus, Hydronephrosis, Hydroureter, Hyperconvex fingernails, Hyperkeratosis, Hypodontia, Hypohidrosis, Hypoplasia of the bladder, Hypoplasia of the corpus callosum, Hypoplastic fingernail, Hypotonia, Ichthyosis, Immunodeficiency, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Iris coloboma, Keratitis, Keratosis pilaris, Kyphosis, Low-set ears, Macrotia, Melanoma, Mental deterioration, Microcephaly, Microphthalmia, Multicystic kidney dysplasia, Myopia, Nail dysplasia, Nail dystrophy, Neoplasm of the lung, Neoplasm of the skin, Nystagmus, Oligodactyly, Oligohydramnios, Olivopontocerebellar atrophy, Omphalocele, Opacification of the corneal stroma, Optic nerve hypoplasia, Osteolysis, Osteopenia, Palmoplantar hyperhidrosis, Palmoplantar keratoderma, Papule, Pectus carinatum, Pectus excavatum, Perifollicular fibrosis, Photophobia, Plagiocephaly, Platyspondyly, Postaxial hand polydactyly, Protruding ear, Recurrent bacterial infections, Recurrent corneal erosions, Recurrent fractures, Recurrent infections, Recurrent respiratory infections, Renal dysplasia, Renal hypoplasia, Rhizomelia, Scaling skin, Scarring alopecia of scalp, Scleritis, Scoliosis, Seizure, Sensorineural hearing impairment, Severe short stature, Short stature, Skin fissure, Skin ulcer, Sparse eyelashes, Specific learning disability, Subcortical cerebral atrophy, Thickened skin, Thin eyebrow, Thin fingernail, Umbilical hernia, Unilateral chest hypoplasia, Unilateral renal agenesis, Urticaria, Uveitis, Ventriculomegaly, Vertebral wedging, Vesicoureteral reflux, obsolete Hypotrichosis, obsolete Sparse and thin eyebrow