Absent toenail, Anemia, Anonychia, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Aplasia of the bladder, Arthrogryposis multiplex congenita, Atrophic scars, Axillary pterygium, Bruising susceptibility, Calvarial skull defect, Camptodactyly of finger, Carious teeth, Congenital localized absence of skin, Congenital pyloric atresia, Corneal erosion, Deeply set eye, Dehydration, Dermal atrophy, Dysphagia, Ectropion, Enamel hypoplasia, Esophageal atresia, Facial palsy, Failure to thrive, Finger syndactyly, Flexion contracture, Fragile nails, Fragile skin, Glomerular sclerosis, Growth delay, Hematuria, Hydronephrosis, Hyperhidrosis, Hyperkeratosis, Hyperpigmentation of the skin, Hypodontia, Hypopigmentation of the skin, Intestinal atresia, Intractable diarrhea, Limitation of joint mobility, Microtia, Milia, Nail dysplasia, Nail dystrophy, Nausea and vomiting, Oral mucosal blisters, Palmar hyperhidrosis, Palmoplantar blistering, Palmoplantar keratoderma, Plantar hyperkeratosis, Polyhydramnios, Premature birth, Prolonged bleeding time, Pterygium, Pyloric stenosis, Recurrent skin infections, Renal duplication, Renal dysplasia, Renal insufficiency, Scarring alopecia of scalp, Sepsis, Skin erosion, Skin ulcer, Skin vesicle, Sparse body hair, Spinal dysraphism, Subepidermal blistering with cleavage in the lamina lucida, Toe syndactyly, Underdeveloped nasal alae, Ureterocele, Urethral obstruction, Urethral stricture, Urinary bladder inflammation, obsolete Elevated maternal serum alpha-fetoprotein

abnormal tongue epithelium morphology, abnormal urinary bladder urothelium morphology, aphagia, behavior/neurological phenotype, decreased angiogenesis, decreased keratinocyte adhesion, dermal-epidermal separation, ear inflammation, immune system phenotype, integument phenotype, neonatal lethality, complete penetrance, nervous system phenotype, perinatal lethality, complete penetrance