Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
CADDS
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

ABCD1 BCAP31
BCAP31


COMMON
GENES
BCAP31



Citations in the biomedical literature:


CADDS
ABCD1 BCAP31
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome



CADDS
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Synonym(s):
- Contiguous ABCD1 DXS1357E deletion syndrome
- Zellweger-like contiguous gene deletion syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.