Attention deficit hyperactivity disorder, Brachydactyly, Cafe-au-lait spot, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Coxa vara, Delayed skeletal maturation, Dilatation of the cerebral artery, Disproportionate short stature, Distal symphalangism, Downslanted palpebral fissures, Dry skin, Enamel hypoplasia, Failure to thrive, Fine hair, Flared metaphysis, Full cheeks, Global developmental delay, High pitched voice, Hypermetropia, Hypopigmented skin patches, Hypoplasia of the corpus callosum, Hypoplastic iliac wing, Hypoplastic scapulae, Hypospadias, Intellectual disability, Intrauterine growth retardation, Ivory epiphyses, Joint hyperflexibility, Large sella turcica, Laryngomalacia, Limited elbow extension, Long clavicles, Low-set ears, Microcephaly, Microdontia, Micromelia, Microtia, Moyamoya phenomenon, Multiple cafe-au-lait spots, Narrow chest, Narrow palpebral fissure, Narrow pelvis bone, Nasal speech, Patent ductus arteriosus, Precocious puberty, Prominent nasal bridge, Prominent nose, Proximal femoral epiphysiolysis, Pseudoepiphyses of the metacarpals, Radial bowing, Recurrent respiratory infections, Retrognathia, Scoliosis, Seizure, Sensorineural hearing impairment, Short 1st metacarpal, Short distal phalanx of finger, Short middle phalanx of finger, Slender long bone, Sloping forehead, Sparse scalp hair, Straight clavicles, Stroke, Thin clavicles, Tibial bowing, Tooth agenesis, Tracheal stenosis, Truncal obesity, Type II diabetes mellitus, Ulnar bowing, Underdeveloped nasal alae, Upslanted palpebral fissure, Vascular dilatation, Ventriculomegaly, Wide nasal bridge

decreased brain size, decreased surfactant secretion, duplex kidney, increased heart ventricle size, lethality throughout fetal growth and development, complete penetrance, misaligned sternebrae, premature death, renal glomerulus cyst, sporadic seizures, thin cerebral cortex, thin cortical plate