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Chudley-McCullough syndrome
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Acute promyelocytic leukemia
Early infantile epileptic encephalopathy
Auriculocondylar syndrome
Costello syndrome
Linear nevus sebaceus syndrome
Phakomatosis pigmentokeratotica
Acute megakaryoblastic leukemia without Down syndrome
Juvenile autosomal recessive medullary cystic kidney disease
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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
GPSM2 P81274609245
No signs/symptoms info available.