Absent Achilles reflex, Absent speech, Adducted thumb, Anarthria, Aortic aneurysm, Aortic regurgitation, Athetosis, Atrophy of the spinal cord, Autistic behavior, Babinski sign, Bowel diverticulosis, Brachycephaly, Brisk reflexes, Broad forehead, Carpal bone hypoplasia, Cataract, Cerebral cortical atrophy, Congenital hip dislocation, Corneal arcus, Corneal opacity, Corpus callosum atrophy, Cryptorchidism, Cutis laxa, Delayed cranial suture closure, Delayed skeletal maturation, Delayed speech and language development, Dementia, Developmental cataract, Dysarthria, Dysfunction of lateral corticospinal tracts, Elbow flexion contracture, Emphysema, Enlarged cisterna magna, Failure to thrive, Falls, Feeding difficulties, Focal dystonia, Foot dorsiflexor weakness, Frontal bossing, Full cheeks, Gait disturbance, Gastroesophageal reflux, Generalized amyotrophy, Generalized hypotonia, Global developmental delay, Growth delay, Hernia, Hiatus hernia, Hip dislocation, Horizontal nystagmus, Hyperactive patellar reflex, Hyperextensible skin, Hyperreflexia, Hyperreflexia in upper limbs, Hypertelorism, Hypotelorism, Hypotonia, Impaired continence, Impaired vibration sensation at ankles, Impaired vibration sensation in the lower limbs, Impaired vibratory sensation, Intellectual disability, Intrauterine growth retardation, Joint hypermobility, Kyphoscoliosis, Large fontanelles, Loss of ambulation, Loss of speech, Low back pain, Low-set ears, Lower limb hyperreflexia, Lower limb hypertonia, Lower limb muscle weakness, Lower limb pain, Lower limb spasticity, Macrotia, Memory impairment, Microcephaly, Mitral regurgitation, Motor delay, Motor polyneuropathy, Muscle spasm, Muscle weakness, Myopia, Narrow mouth, Narrow nasal ridge, Nystagmus, Osteopenia, Pectus excavatum, Peripheral axonal neuropathy, Pes cavus, Pollakisuria, Postural instability, Postural tremor, Premature skin wrinkling, Prematurely aged appearance, Primitive reflex, Progressive gait ataxia, Progressive neurologic deterioration, Progressive pes cavus, Prominent forehead, Prominent superficial blood vessels, Protruding ear, Pseudobulbar paralysis, Psychomotor retardation, Psychosis, Pulmonic stenosis, Redundant skin, Scoliosis, Seizure, Sensorineural hearing impairment, Severe short stature, Short stature, Skeletal muscle atrophy, Small foramen magnum, Sparse hair, Spastic dysarthria, Spastic gait, Spastic paraplegia, Spasticity, Specific learning disability, Strabismus, Talipes equinovarus, Tetraplegia, Thin skin, Tremor, Triangular face, Umbilical hernia, Unilateral renal agenesis, Upper motor neuron dysfunction, Urinary incontinence, Urinary retention, Urinary urgency, Vomiting, Wide cranial sutures, Wormian bones, obsolete Joint hyperflexibility, obsolete Toe walking