Congenital ichthyosiform erythroderma, Corneal erosion, Dehydration, Depressed nasal ridge, Dry skin, Eclabion, Ectropion, Erythroderma, Everted lower lip vermilion, Failure to thrive, Foot polydactyly, Gangrene, Hand polydactyly, Hearing abnormality, Hearing impairment, Hyperkeratosis, Hypohidrosis, Ichthyosis, Keratitis, Lack of skin elasticity, Leukonychia, Limitation of joint mobility, Malignant hyperthermia, Palmoplantar keratoderma, Premature birth, Proptosis, Pruritus, Recurrent respiratory infections, Renal insufficiency, Respiratory insufficiency, Rigidity, Self-injurious behavior, Sepsis, Short finger, Short stature, Sparse hair, Sudden cardiac death, obsolete Hypotrichosis

abnormal skin condition, abnormal skin development, abnormal surfactant secretion, abnormal type II pneumocyte morphology, absent alveolar lamellar bodies, absent suckling reflex, decreased birth weight, decreased cholesterol efflux, decreased fetal size, decreased fetal weight, epidermal desquamation, impaired skin barrier function, impaired stratum corneum desquamation, increased cholesterol level, neonatal lethality, complete penetrance, perinatal lethality, complete penetrance, preweaning lethality, complete penetrance, pulmonary vascular congestion, shiny skin, skin lesions, thick epidermis stratum granulosum, thick pulmonary interalveolar septum, thin epidermis, thin epidermis stratum spinosum