| Phenotype details |
see paper; ..., 8m-gestation hypertension; mother on bed rest last 6 weeks of pregnancy, mother had anti-Duffy antibodies, prenatal ultrasound showed heart abnormalities ; birth 40w; language/speech delay, 18m-first words; motor delay, 14m-first steps; no intellectual disability; autism spectrum disorder; ADHD, anxiety; no psychosis/schizophrenia; uses psychiatric drugs, multiple medications at different ages, including asenapine and Geodon; no sleep disturbances, mild articulation issues; no seizures/epilepsy; hypotonia, muscle issues in core and hands; no dystonia; no spasticity; occasional enuresis; joint hypermobility,m ild hypermobility in hands; no syndactyly; no vertebral abnormalities; soft hands, mild generalized brachydactyly with middle finger length:total hand length ratio of 40.1 % (slightly >3%ile); no pectus excavatum; borderline macrocephaly, relatively broad facial shape, upturned nasal tip; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; congenital heart disease (two muscular VSDs, bicuspid aortic valve, mild aortic tenosis, mild gradient in descending aorta suggesting a mild coarctation); mild stable aortic dilatation; no neonatal feeding difficulties; gastroesophageal reflux; constipation; excessive weight gain despite exercise and dietary monitoring (?related to medication); no skin hyperlaxity; no genitourinary abnormalities; cryptorchidism; premature adrenarche, advanced bone age, family history of hereditary hemochromatosis |
