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Hypomyelinating leukodystrophy 4
Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene. [from MONDO]
Hereditary spastic paraplegia 13
A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33. [from SNOMEDCT_US]
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