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12p12.1 microdeletion syndrome
1 associated gene
17 connected diseases
No signs/symptoms info
Disease Type of connection
Developmental and speech delay due to SOX5 deficiency
Langer mesomelic dysplasia
Léri-Weill dyschondrosteosis
Shox-related short stature
Autosomal recessive primary microcephaly
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
FTH1-related iron overload
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Del(12)(p12.1)
- Monosomy 12p12.1
Classification (Orphanet):
- 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: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
SOX5 P35711604975
No signs/symptoms info available.