Aplasia cutis congenita over the scalp vertex, Aplasia of the bladder, Aplasia/Hypoplasia of the skin, Areflexia, Atelectasis, Axial muscle atrophy, Bilateral facial palsy, Bilateral ptosis, Bronchiolitis, Bruising susceptibility, Calf muscle hypertrophy, Calvarial skull defect, Carious teeth, Congenital localized absence of skin, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Deeply set eye, Dehydration, Delayed gross motor development, Dermal atrophy, Difficulty climbing stairs, Distal lower limb muscle weakness, Dysphagia, Dysphasia, EMG: myopathic abnormalities, Echolalia, Elevated circulating creatine kinase concentration, Enamel hypoplasia, Exertional dyspnea, Facial palsy, Failure to thrive, Fatigable weakness, Fatigue, Finger syndactyly, Flexion contracture, Fragile skin, Frequent falls, Generalized muscle weakness, Global developmental delay, Glomerular sclerosis, Gowers sign, Hydronephrosis, Hyperconvex fingernails, Hypoplastic dermoepidermal hemidesmosomes, Hypoplastic fingernail, Increased circulating lactate dehydrogenase concentration, Increased connective tissue, Keratitis, Limb-girdle muscle weakness, Limitation of joint mobility, Loss of ability to walk, Lumbar hyperlordosis, Microtia, Milia, Motor delay, Muscle flaccidity, Muscular dystrophy, Mutism, Myopathy, Nail dysplasia, Nail dystrophy, Nasal speech, Neonatal respiratory distress, Oculomotor nerve palsy, Onychogryposis, Onychogryposis of toenails, Ophthalmoparesis, Ophthalmoplegia, Oral mucosal blisters, Palmoplantar hyperkeratosis, Papule, Pelvic girdle muscle weakness, Polyhydramnios, Premature birth, Progressive proximal muscle weakness, Prolonged bleeding time, Proximal muscle weakness, Proximal upper limb muscle hypertrophy, Ptosis, Pulmonary fibrosis, Punctate keratitis, Renal dysplasia, Right bundle branch block, Scarring alopecia of scalp, Sepsis, Short stature, Skeletal muscle atrophy, Skin erosion, Skin fragility with non-scarring blistering, Skin ulcer, Skin vesicle, Spinal dysraphism, Toe syndactyly, Underdeveloped nasal alae, Ureterocele, Urethral stricture, obsolete Hypotrichosis

abnormal skin condition, abnormal skin exfoliation, abnormal soleus morphology, abnormal suckling behavior, abnormal wound healing, absent epidermis stratum basale, behavior/neurological phenotype, cardiovascular system phenotype, decreased body size, decreased fibroblast cell migration, decreased fibroblast chemotaxis, decreased skeletal muscle fiber diameter, decreased skeletal muscle fiber number, decreased skeletal muscle mass, decreased survivor rate, dermal-epidermal separation, impaired exercise endurance, impaired macrophage chemotaxis, impaired skin barrier function, impaired wound healing, increased skeletal muscle fiber size, integument phenotype, muscle degeneration, muscle phenotype, no abnormal phenotype detected, postnatal lethality, complete penetrance, prenatal lethality, complete penetrance, skeletal muscle fiber atrophy, skeletal muscle fiber necrosis, skin detachment, skin lesions