| Phenotype details |
see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, congenital (32 cm at birth); severe global developmental delay; 3y-3y6m-walk, currently can ambulate short distances with an abnormal gait; no speech (predominantly, but is able to communicate with hands and non-specific sounds); intellectual disability; behavioral issues; hits himself and bites his hand when frustrated, when excited, jumps and flaps hands, very affectionate, likes to mouth/chew objects, likes music/water play, and is aversive to many textures and loud noises. Not particularly aggressive but can get easily frustrated. Exhibits repetitive behaviors such as hand flapping, rocking back and forth, and banging head. Has an aversion to bright lights (eyes have a tendency to roll back) and is very sensitive to loud sounds and to food textures. Night terrors; hypotonia; no seizures; MRI brain abnormal, 4m-oderate prominence of lateral ventricles, small corpus callosum, central white matter loss; cavum vellum interpositum cyst, large arachnoid granulation; 11m-prominance of lateral and third ventricles, possibe aqeuductal stenosis, thinning of corpus callosum, periventricular white matter again seen, UDN notes: Hypoplasia of corpus callosum and brainstem, ventriculomegaly, delayed myelination, white matter gliosis, small pituitary gland |
