| Phenotype | Developmental delay/mental retardation, some autistic traits, high frequency hearing loss in left ear (exact cause unclear), low muscle tone and mild joint hyperextensibility, one pupil larger than other, infraorbital creases, eyes appear slighly deepset, mild left convergent strabismus, triangular facies with broad forehead and small chin, philtrum relatively short, gingival hypertrophy, nasal bridge slighly depressed, inverted nipples, left supernumerary nipple, prominent fat pads in mammary regions, 5th finger clinodactyly and convex fingernails, bilateral shortening and thinning of the 4th finger, skin soft and velvety, veins easily visible on chest, truncal deposition of body fat, dimple at end of spine, hallux valgus and 2nd toe overlaps the 3rd, lesion in mid-brain by MRI, question of brain stem tumor (1998) with no change in 1999. Initially growth delayed and a poor eater, history of chronic constipation, history of increased sweating as a young infant, documented history of hypoglycemia in early infancy. |