| Phenotype details |
height 15y 160.4 cm (13%), weight 15y 70.8 kg (85%), OFC 15y 56.5 cm (86%); motor delay, 1y10m-walk; speech delay, 6y-1st word; intellectual disability; autism. attention-deficit/hyperactivity disorder. Emotional and Sensory sensitivity. High pain tolerance.; Mild left hemiparesis, of undetermined cause. Possibility of stroke.; MRI brain 1y-normal; no hearing loss; strabismus, astigmatism, optic nerves small, not hypoplastic; Abbreviations: NMD (nonsense mediated mRNA decay), ID - intellectual disability; sex - F/M - female / male; atrial septal defect - atrial septal defect; atrial septal defect II - atrial septal defect secundum; SD - standard deviation; HC - head circumference; W - weight; H - height; NA - not applicable; UTI - urinary tract infection; patent ductus arteriosus - patent ductus arteriosus; ventricular septal defect -; total anomalous pulmonary venous return - Total anomalous pulmonary venous return; aberrant right subclavian artery - Aberrant Right Subclavian Artery; obstructive sleep apnea - obstructive sleep apnea; GH - growth hormone; ADHD - r; MRI - magnetic resonance imaging; CSF - cerebrospinal fluid. ventriculoperitoneal shunt - ventriculoperitoneal shunt; ECG - electrocardiogram; patent foramen ovale - patent foramen ovale; IQ - intelligence quotient; aortic regurgitation - aortic regurgitation; PS - pulmonary stenosis; S/P - status post; CT - Computed Tomography; ADD -; Y - years; tonsillectomy and adenoidectomy -tonsillectomy and adenoidectomy; focal dermal dysplasias - focal dermal dysplasias; IUGR - intrauterine growth retardation; GERD -; respiratory distress syndrome - respiratory distress syndrome; retinopathy of prematurity - Retinopathy of Prematurity; SIHIWES - Sifrim–Hitz–Weiss syndrome; Undescended testis, s/p surgical correction.; short stature, growth hormone deficiency, hypogonadism, per parental report that was normalized after growth hormone treatment; scoliosis, kyphoscoliosis. s/p surgical correction.; dental - single central incisor (normal adult teeth). Prone to get cavities.; no gastrointestinal anomalies |
