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Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
Angelman syndrome
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive spastic paraplegia type 30
Brachydactyly - elbow wrist dysplasia
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Hereditary sensory and autonomic neuropathy type 2
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
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: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
RFX6 Q8HWS3612659
No signs/symptoms info available.