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Definition

A neurodegenerative disease characterized by variable degrees of hypotonia, speech impairment, intellectual disability, pyramidal signs, subtle facial dysmorphism, and chronic constipation. Some patients manifest neuroaxonal dystrophy, optic atrophy, unmyelinated axons and spheroid bodies in tissue biopsies.

Acronym

IHPRF1

Synonyms

IHPRF
Infantile neuroaxonal neurodegeneration with facial dysmophism
INNFD

Keywords

Neurodegeneration