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immunoosseous dysplasia, Schimke type
Genetics:
- caused by mutations in the SMARCAL1 gene
Clinical manifestations:
1) spondyloepiphyseal dysplasia
2) peculiar clinical phenotype
3) numerous lentigines
4) slowly progressive immune defect
5) immune-complex nephritis
6) leads to death at about age 8 years.
Related
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1; sucrose nonfermenting protein 2-like 1; hepA-related protein; hHARP (SMARCAL1, HARP)
General
skeletal dysplasia
References
OMIM :accession 242900