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Autism spectrum disorder-epilepsy-arthrogryposis syndrome
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
SLC35A2-CDG
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Autosomal recessive nonsyndromic intellectual deficit
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Split hand-split foot malformation
Synonym(s):
- SLC35A3-CDG
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
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
Gene symbol UniProt reference OMIM reference
SLC35A3 Q9Y2D2605632
No signs/symptoms info available.