delay 0011344 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Showing of 27 | Last updated: 2/1/2021 Diagnosis Diagnosis Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

0002171 Hypoplasia of the pons 0012110 Infantile encephalopathy 0007105 Loss of Purkinje cells in the cerebellar vermis 0007001 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small [rarediseases.info.nih.gov]

Title Other Names: Encephalopathy fatal infantile with olivopontocerebellar hypoplasia Categories: Summary Summary The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. [rarediseases.info.nih.gov]