| Phenotype details |
see paper; ..., brith 40+3; global developmental delay; moderate ID; speech delay, very limited speech; autism, confirmed psychometrically, moderate-severe intellectual disability; deterioration of verbal expression progressing to selective mutism in adolescence, anxiety disorder, poor visual attention, poor social reciprocity, very socially withdrawn, preference for routine/ritualized behaviours, shows repetitive mannerisms including twirling hair/picking/scratching various parts ear/face; hypotonia; seizures, occassional staring spells, usually responsive to name and showing normal EEG; EEG normal; MRI/CT normal; complex language disorder, mixed learning disorder, anxiety disorder; moderate intellectual disability; strabismus; coarsened, mildly dysmorphic facial features with up-slanting palpebral fissures, synophrys, small, low-set and posteriorly rotated ears, high nasal root with thick alae nasi and a square tip, prominent front incisors, narrow palate; very tapered fingers, prominent fingertip pads, bilateral hypoplastic nails both halluces; symmetric tall stature; X-ray chest thoracic vescera heart size upper limit of normal; normal kidneys; Bilateral bronchial thickening and lower airway inflammation identified. Prior episode of right middle and lower lobe air space opacity, consitent with pneumonia; patchy red raised skin, thick ichthyotic skin, diagnosed with a T-cell skin lymphoma (mutliple hyper-pigmented patches involving trunk/limbs) consistent with mycosis fungoides (intermittent radiation treatment); normal ophthalmology; normal audiology assessments |
