Absent speech, Anteverted nares, Ataxia, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Behavioral abnormality, Bilateral cryptorchidism, Blepharophimosis, Brain atrophy, Brittle hair, Broad nasal tip, Bulbous nose, CNS hypomyelination, Camptodactyly, Carious teeth, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Coarse hair, Congenital hip dislocation, Congestive heart failure, Cutis laxa, Dandy-Walker malformation, Decreased fetal movement, Decreased muscle mass, Delayed ability to walk, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dementia, Developmental regression, Difficulty walking, Disproportionate tall stature, Downslanted palpebral fissures, Dyskinesia, EEG with multifocal slow activity, Encephalopathy, Entropion, Epileptic encephalopathy, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Fragmented elastic fibers in the dermis, Frontal bossing, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Generalized joint hypermobility, Gliosis, Global developmental delay, High forehead, High myopia, High palate, Hip dislocation, Hypermetropia, Hyperreflexia, Hypertelorism, Hypertrophic cardiomyopathy, Hypodontia, Hypoplasia of the corpus callosum, Hyporeflexia, Hypotonia, Hypsarrhythmia, Impulsivity, Inability to walk, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Involuntary movements, Iris coloboma, Joint hypermobility, Limb hypertonia, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Macrotia, Malar flattening, Mask-like facies, Mental deterioration, Microcephaly, Micropenis, Midface retrusion, Motor delay, Myoclonus, Myopia, Narrow mouth, Nystagmus, Optic atrophy, Pachygyria, Pes planus, Polymicrogyria, Poor head control, Poor speech, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Protruding ear, Psychomotor deterioration, Ptosis, Reduced tendon reflexes, Redundant neck skin, Redundant skin, Retinal degeneration, Retrognathia, Right bundle branch block, Rigidity, Scoliosis, Seizure, Short nose, Short stature, Smooth philtrum, Sparse hair, Spastic tetraparesis, Spasticity, Status epilepticus, Strabismus, Subretinal pigment epithelium hemorrhage, Talipes equinovarus, Thick cerebral cortex, Thick hair, Tremor, Triangular face, Unsteady gait, Wide anterior fontanel, Wide nasal bridge