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ENLeukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome (H-SMD)
Alias:
Hypomyelination-Spondyloepimetaphyseal Dysplasia Syndrome
Leukoencephalopathy-Metaphyseal Chondrodysplasia Syndrome
Leukoencephalopathy-Semd Syndrome
H-Smd
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Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome, also known as hypomyelination-spondyloepimetaphyseal dysplasia syndrome, is related to spondyloepimetaphyseal dysplasia, strudwick type and spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy. An important gene associated with Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1). Affiliated tissues include bone and monocytes, and related phenotypes are leukoencephalopathy and metaphyseal chondrodysplasia
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MALACARDS
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