SPPRS commonly presents with:
• Abnormal muscle tone including hypotonia and dystonia, particularly of the lower limbs
• Severe motor disability with ataxia and spastic paraplegia
• Impaired development and moderate to severe intellectual disability
• Delayed milestones and limited/delayed speech
Clinical features described in some, but not all patients also include:
• Epilepsy and seizures (commonly myoclonic)
• Ocular abnormalities including myopia, strabismus, heterochromia, and retinal dystrophy
• Hearing loss
• Microcephaly, cephalic atrophy, delayed myelination, and hypoplasia of the corpus callosum
• Large head circumference at birth
• Double incontinence
• Genital abnormalities in males
• Skeletal deformities, particularly of the feet and spine (lordosis, kyphosis, and scoliosis)
• Hip dislocations
• Obesity and short stature
A summary of described symptoms may also be found at: https://omim.org/clinicalSynopsis/616756.
HACE1