| Phenotype details |
global developmental delay; walk-2y; fine motor delay; first words-2y; speech sentences; received speech/language therapy; Issues with speech enunciation, hypernasal voice, occasional stuttering. Impaired language on all subcompoinents of CELF4; Moderate intellectual disability; autistic features; no ADHD/ADD; Frequently puts objects in her mouth. Easily distractable and constantly needs to keep her hands busy and mind busy. Some hand-flapping and hopping on both feet, when excited; normal weight; normal height; macrocephaly; MRI-brain mildly widened CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; Issues with balance, coordination; prominent forehead; widely spaced eyes; Crowded teeth - extensive dental history, instance of no permanent teeth under a decidious tooth; high arched palate with bifid uvula; caesarian section for fetal decelerations and oligohydramnios; myopia, astigmatism, strabism; normal hearing; normal heart; normal kidneys; no hernias; hyperlordosis of lumbar spine. Hypermobile flat feet; anteriorly placed anus, chronic and recurrent upper respiratory infections; increased subcutaneous adipose tissue deposition, copious saliva production evident from birth onwards, possible impairment of thirst; low hematocrit in childhood with normal hemoglobin level and MCV |
