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12p12.1 microdeletion syndrome
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Developmental and speech delay due to SOX5 deficiency
1 associated gene
No signs/symptoms info
12p12.1 microdeletion syndrome
Developmental and speech delay due to SOX5 deficiency

SOX5
(UniProt - OMIM)
 SOX5
(UniProt - OMIM)

COMMON
GENES 		SOX5


Citations in the biomedical literature:


12p12.1 microdeletion syndrome
SOX5
Developmental and speech delay due to SOX5 deficiency



12p12.1 microdeletion syndrome
Developmental and speech delay due to SOX5 deficiency

Synonym(s):
- Del(12)(p12.1)
- Monosomy 12p12.1
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
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
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.