| Phenotype details |
pregnancy: polyhydramnios and partial placenta previa, birth 42w via induced vaginal delivery, at birth cyanotic requiring routine resuscitation, did not require NICU stay, birth 42w, birth weight 3.88kg (p75); weight p36, height p59, OFC p73; motor development smiling normal standpoint. first words at 13 ms. 20 words at 3 ys. 2 word phrases at 3,5 ys. short sentences 4-5ys; speech furst words 13m; mild intelletual disability; fFull scale IQ53, verbal IQ80, nonverbal IQ41; diagnosis of attention deficit hyperactivity disorder, methylphenidate (10mg 1x a day in the morning) impulsive. fidgety, obsessions. temper tantrums. repetitive behavior (repetitive motor movements, some repetitive speech, some problems adjusting to change); no autism spectrum disorder; attention deficit hyperactivity disorder/ADD; hypotonia; no seizures; 4y-MRI brain normal; congenital unilateral hydronephrosis/unilateral atrophic kidney (little brother same renal phenotype), diagnosed with ankyloglssia, 6d-frenectomy, undescended left testicle (operated 9m/20m); downslant palpebral fissures, epicanthal folds. narrow nose with anteverted nares, tented mouth, small squared-off teeth.; 5th finger clinodactyly bilaterally; normal hearing; severe myopia, astigmatism; healthy boy. 2 orchiopexy surgeries at 9 and 18 months. frenectomy 6 days old. recurrent ear infections 0-2 years. chronic loose stools from age 36 to 48 months that improved with diet (gluten and casein free). iga deficiency (48 ms). allergies: amoxicillin, gluten, processed soy, dairy; |
