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

SH2B1 SH2B1


COMMON
GENES
SH2B1



Citations in the biomedical literature:


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



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

Synonym(s):
(no synonyms)

Synonym(s):
- Distal del(16)(p11.2)
- Distal monosomy 16p11.2

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.