| Phenotype details |
birth 30w2d; no IUGR; failure to thrive; feeding difficulties; axial hypotonia; global developmental delay; gross motor delay; fine motor delay; 20-21m-sit; speech delay, 28m-first words (mama, dada); behavioral problems; hyperactivity/ADHD; no anxiety; stereotypies; no microcephaly; MRI brain hypoplastic cochlear nerves and possible absence of the inferior division of the vestibular nerves bilaterally; EEG mild diffuse background slowing consistent with diffuse encephalopathy of nonspecific etiology; no seizures; hypertonia of upper extremities, moves all extremities but no purposeful movement, no object tracking, mostly does not grasp objects, abnormal movements, likely stereotypies (did not correlate with seizures on video-EEG) since birth.; myopia; alternating esotropia; bilateral auditory neuropathy spectrum disorder vs. sensorineural hearing loss; facial dysmorphism, mild coarse facial appearance, bitemporal narrowing, bulbous nose tip; anteverted nares and low depressed nasal bridge, big cheeks; downturned corners of mouth; philtrum protudes with philtral pillars present, but poorly developed, narrow palate, mild retrognathia; broad secondary alveolar ridges, with normal labial philtrum; normal hands/feet; moderate-large ventricular septal defect; no atrial septal defect; patent foramen; bilateral superior vena cava; no gastrointestinal findings; no genitourinary findings |
