contiguous ABCD1/DXS1375E deletion syndrome (CADDS)

Genetics

• associated with microdeletions in the ABCD1 gene
• associated in microdeletions in BCAP31 gene

Clinical manifestations

• profound neonatal hypotonia
• failure to thrive
• cholestatic liver disease

Laboratory

• adrenoleukodystrophy protein in fibroblasts

More general terms

• chromosome deletion syndrome
• metabolic disease

Additional terms

• ATP-binding cassette sub-family D member 1; adrenoleukodystrophy protein; ALDP (ABCD1, ALD)

Database

• OMIM: https://mirror.omim.org/entry/300475