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contiguous ABCD1/DXS1375E deletion syndrome (CADDS)
Genetics:
1) associated with microdeletions in the ABCD1 gene
2) associated in microdeletions in BCAP31 gene
Clinical manifestations:
1) profound neonatal hypotonia
2) failure to thrive
3) cholestatic liver disease
Laboratory:
- adrenoleukodystrophy protein in fibroblasts
Related
ATP-binding cassette sub-family D member 1; adrenoleukodystrophy protein; ALDP (ABCD1, ALD)
General
chromosome deletion syndrome
metabolic disease
Database Correlations
OMIM 300475
References
OMIM :accession 300475