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Distal 16p11.2 microdeletion syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
1 associated gene
No signs/symptoms info
Distal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

SH2B1
(UniProt - OMIM)
 SH2B1
(UniProt - OMIM)

COMMON
GENES 		SH2B1


Citations in the biomedical literature:


Distal 16p11.2 microdeletion syndrome
SH2B1
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency



Distal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

Synonym(s):
- Distal del(16)(p11.2)
- Distal monosomy 16p11.2
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.