Carious teeth, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Coarse hair, Congenital hip dislocation, Coxa vara, Cryptorchidism, Cutis laxa, Dandy-Walker malformation, Decreased muscle mass, Deep palmar crease, Deep plantar creases, Delayed closure of the anterior fontanelle, Delayed cranial suture closure, Delayed eruption of teeth, Delayed speech and language development, Dementia, Downslanted palpebral fissures, Epicanthus, Excessive skin wrinkling on dorsum of hands and fingers, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Fragile nails, Fragmented elastic fibers in the dermis, Frontal bossing, Generalized hypotonia, Generalized joint hypermobility, Global developmental delay, High myopia, High nonceruloplasmin-bound serum copper, High palate, Hypertelorism, Hypoplasia of the musculature, Hypotonia, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Joint hypermobility, Kyphoscoliosis, Kyphosis, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Microdontia, Midface retrusion, Motor delay, Multiple palmar creases, Multiple plantar creases, Myopia, Narrow mouth, Nasal speech, Neonatal wrinkled skin of hands and feet, Osteopenia, Pachygyria, Palmoplantar cutis laxa, Pectus excavatum, Pes planus, Polymicrogyria, Poor speech, Premature rupture of membranes, Progressive cerebellar ataxia, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Recurrent sinopulmonary infections, Redundant neck skin, Redundant skin, Scapular winging, Scoliosis, Seizure, Short nail, Short nose, Short stature, Slender long bone, Slender long bones with narrow diaphyses, Slurred speech, Small, conical teeth, Smooth philtrum, Sparse hair, Spasticity, Status epilepticus, Strabismus, Subretinal pigment epithelium hemorrhage, Talipes equinovarus, Thick cerebral cortex, Thick hair, Umbilical hernia, Wide anterior fontanel, Wide nasal bridge, Wormian bones

impaired mammary gland growth during pregnancy, increased incidence of induced tumors, increased metastatic potential