Cytoscape Web
Click node...

Intellectual deficit - craniofacial dysmorphism - cryptorchidism
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
Alternating hemiplegia of childhood
Familial or sporadic hemiplegic migraine
Albers-Schönberg osteopetrosis
Autosomal recessive malignant osteopetrosis
Intermediate osteopetrosis
Synonym(s):
(no synonyms)
Classification (Orphanet):
- 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 dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PACS1 Q6VY07607492
No signs/symptoms info available.