| Phenotype details |
see paper; ..., NICU f19 days (jaundice, hypoglycemia, feeding difficulties); abnormal newborn hearing screen; motor developmental delay, mild hypotonia; focal seizures (left anterior temporal area); MRI brain prominent extraaxial fluid; 2m-developmental concerns, not lifting head, not tracking, 9m-rolled over, 10m-sit, 14m-pulled to stand, 14m-crawl, 16m-cruising, 22m-walk (very wobbly, still needs support; 22m-speech 2-3 spontaneous words, usually only repeats or echos; developmental delay, global, mild and making progress; intermittent strabismus/esotropia, hypermetropia, amblyopia (treated with patching); sensorineural hearing loss (5db bilateral snhl), ear infections (17m-tubes), mixed hearing loss, mild sensorineural hearing loss, conductive hearing loss, chronic middle ear effusion s/p ear tubes (compound heterozygote 2 pathogenic GJB2 variants); delayed teeth eruption in unusual order; no cardiac problems; no respiratory problems; feeding difficulty, still struggles with hard foods, delayed teeth eruption; no renal anomalies; no genitourinary problems; no hematologic problems; no endocrine problems; no joint problems, no muscle concerns; hypotonia improved with time; no immunological problems; normal skin; failure to thrive; mild flattening of the occiput but otherwise normal head shape with anterior and posterior hairlines normal, curly, dark brown hair, level palpebral fissures with normal eye spaces, pupils equally round and reactive to light with extraocular movements in tandem, irises are brown, ears normal formed and placedt, no preauricular pits or tages, prominent, somewhat high nasal bridge with normal nose and philtrum, thin lips, palate is intact and not high with single midline uvula, teeth are primary teeth with normal enamel; mild fifth finger brachydactyly, normal otherwise. |
