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Definition

A rare autosomal dominant systemic disorder resulting in lack of neurologic development and death in infancy. After birth, infants present in the first week of life with poor feeding and neurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual fixation. Other features include mildly elevated plasma concentration of very-long-chain fatty acids, lactic acidosis, microcephaly, deep-set eyes, optic atrophy and hypoplasia, and an abnormal gyral pattern in both frontal lobes associated with dysmyelination.

Acronym

EMPF1

Synonyms

EMPF
Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission
Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1

 
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