Arachnodactyly, Autism, Blue irides, Brachycephaly, Brachydactyly, Cerebral venous thrombosis, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Cryptorchidism, Decreased body mass index, Decreased response to growth hormone stimulation test, Delayed eruption of teeth, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Diabetes mellitus, Disproportionate tall stature, Elevated calcitonin, Elevated circulating parathyroid hormone level, Epicanthus, Epiphyseal stippling, Esotropia, Fair hair, Generalized hypotonia, Global developmental delay, Growth delay, Hearing impairment, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypocalcemia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypospadias, Hypotension, Hypotonia, Increased intracranial pressure, Intellectual disability, Intrauterine growth retardation, Large forehead, Long palpebral fissure, Long philtrum, Long toe, Low hanging columella, Malar flattening, Mandibular prognathia, Melanocytic nevus, Micrognathia, Micromelia, Midface retrusion, Mild short stature, Narrow vertebral interpedicular distance, Obesity, Open bite, Open mouth, Oral ulcer, Peripheral neuropathy, Posteriorly rotated ears, Prominent nose, Pseudohypoparathyroidism, Ptosis, Red hair, Round face, Scoliosis, Seizure, Short chin, Short metacarpal, Short metatarsal, Short nose, Short phalanx of finger, Short stature, Short toe, Specific learning disability, Spinal canal stenosis, Strabismus, Vertebral hypoplasia, Wide nasal bridge, obsolete Abnormality of the metacarpal bones