[…] glycogen phosphorylase deficiency Hepatocellular carcinoma, childhood-onset Hereditary chronic pancreatitis Idiopathic bronchiectasis Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Male infertility with normal virilization [csbg.cnb.csic.es]

[…] of hospitalization, rates of antibiotic use, rates of pulmonary infections, pneumothorax, atelectasis, aspiration and adverse complaints including bloating, constipation, chest pain, dyspnea assessed by a validated breathing assessment, vomiting and nausea [clinicaltrials.gov]

[…] including rates of hospitalization, rates of antibiotic use, rates of pulmonary infections, pneumothorax, atelectasis, aspiration and adverse complaints including bloating, constipation, chest pain, dyspnea assessed by a validated breathing assessment, vomiting [clinicaltrials.gov]

Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creatine kinase. Case description: Two patients exhibited head drop during infancy although they were able to sit independently. [mayoclinic.pure.elsevier.com]

muscle weakness Bilateral talipes equinovarus Childhood onset Decreased fetal movement Arthrogryposis multiplex congenita Talipes equinovarus Autosomal dominant inheritance Difficulty climbing stairs Increased variability in muscle fiber diameter Nystagmus [mendelian.co]

Patient and proxy hospitalization, pneumothorax and atelectasis reports will be confirmed by obtaining hospital discharge summaries. [clinicaltrials.gov]