Neurodevelopmental disorders:
• Global developmental delays
• Intellectual disability
• Autism spectrum disorder
Neurologic features:
• Hypotonia
• Spasticity
• Seizures
• MRI findings: cerebellar hypoplasia, corpus callosum abnormalities, ventriculomegaly, polymicrogyra, white matter lesions, absent septum pellucidum, and periventricular nodular heterotopia
Cardiac:
• Ventricular septal defect
• Patent foramen ovale
• Atrial septal defect
• Patent ductus arteriosis
• Valvar anomalies (bicuspid aortic valve, pulmonic stenosis, tricuspid valve dysplasia)
• Aortic arch abnormalities
Ocular:
• Congenital ptosis
• Refractive abnormalities
• Congenital cranial dysinnervation disorders
• Coloboma
GI:
• Constipation
• Enteral tube dependence
• Ompahlocele
• Hernias
Musculoskeletal:
• Congenital hip dysplasia
• Scoliosis
• Thoracic skeletal dysplasia (1 individual)
• Arthrogryposis (1 individual)
Genitourinary:
• Cryptorchidism
• Shawl scrotum
• Pelviectasis
• Renal cysts
Respiratory:
• Interstitial lung disease (1 individual)
• Restrictive lung disease (1 individual)
MYH10