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GTR Home > Conditions/Phenotypes > Spondyloepimetaphyseal dysplasia, Bieganski type

Spondyloepimetaphyseal dysplasia, Bieganski type

Synonyms
Leukoencephalopathy with metaphyseal chondrodysplasia; SEMD X-linked with mental deterioration; Spondyloepimetaphyseal dysplasia X-linked with mental deterioration; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) is an X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy (summary by Miyake et al., 2017). [from OMIM]

Available tests

21 tests are in the database for this condition.

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Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AIF, AUNX1, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR, NAMSD, PDCD8, SEMDHL, AIFM1
    Summary: apoptosis inducing factor mitochondria associated 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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