Contiguous Abcd1/dxs1375e Deletion Syndrome

From Anvita Health Wiki

Contents 1 Genetics 2 Clinical-manifestations 3 More General Terms 4 Additional Terms 5 Internet Database 6 References

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

More General Terms

• genetic syndrome (multisystem disorder)
• metabolic disease

Additional Terms

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

Internet Database

OMIM: 300475

References

OMIM [1]

contiguous ABCD1/DXS1375E deletion syndrome (CADDS)