| Phenotype details |
see paper; ..., severe global developmental delay; severe muscular hypotonia; minimal milestones achieved; no speech; seizures; EEG abnormal; reduced pain sensation; self-mutilation; no crying without tears; ECG-reduced heart rate variability; no reduced sweating; fever without focus/temperature dysregulation; repeated neonatal episodes of apnea and/or desaturations; no thyroid dysfunction; history hypoglycemia; no (pan)hypopituitarism; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; diarrhea; dysphagia, aspiration, gastroesophageal reflux, total parenteral nutrition; left clubfoot, right vertical talus, severe arthrogryposis, congenital hip dysplasia, hemivertebra or cleft vertebra at C6-C7 with widening of the interpedicular distance in the lower cervical spine; no genital abnormalities; no hearing loss; no eye abnormalities; bitemporal narrowing, downslanting palpebral fissures, prominent nasal tip, high narrow palate, hypoplastic alae, small mouth, micrognathia, retrognathia, short neck, ears borderline low- set and posteriorly rotated, right ear overfolded with “satyr” appearance; cardiomegaly, left aortic arch, pulmonary hypertension, frequent infections, tracheostomy with ventilation, respiratory failure; no increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies |
