Tethered Cord Syndrome and Spinal Epidural Lipomatosis in a Child With RALA -Associated Hiatt-Neu-Cooper Syndrome.

Abstract excerpt

Pathogenic variants in RALA cause Hiatt-Neu-Cooper syndrome, a rare and clinically complex neurodevelopmental condition characterized by developmental delay, hypotonia, and intellectual disability, with distinctive craniofacial features. The disease is also associated with variably occurring seizures, macrocephaly, and autism spectrum disorder. Reported manifestations have primarily involved the central nervous...

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