Brittle hair, Broad columella, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Cutis laxa, Dandy-Walker malformation, Decreased body weight, Decreased muscle mass, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dementia, Dental crowding, Disproportionate tall stature, Downslanted palpebral fissures, Entropion, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Fragmented elastic fibers in the dermis, Frontal bossing, Generalized hypotonia, Generalized joint hypermobility, Global developmental delay, Hand clenching, High myopia, High palate, Hip dysplasia, Hypertelorism, Hypotonia, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Joint hypermobility, Knee flexion contracture, Kyphoscoliosis, Laryngomalacia, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Midface retrusion, Mitral valve prolapse, Motor delay, Myopia, Narrow mouth, Narrow naris, Nystagmus, Pachygyria, Pes planus, Pneumothorax, Pointed chin, Polymicrogyria, Poor speech, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Reduced subcutaneous adipose tissue, Redundant neck skin, Redundant skin, Right bundle branch block, Scoliosis, Seizure, Short nose, Short stature, Smooth philtrum, Sparse hair, Spasticity, Strabismus, Subretinal pigment epithelium hemorrhage, Talipes equinovarus, Thick cerebral cortex, Thick hair, Triangular face, Tricuspid regurgitation, Wide anterior fontanel, obsolete Joint laxity