ODCs

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2 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Isolated brachycephaly

Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR3	(0.77)	SH2B1

Citations in the biomedical literature:

Isolated brachycephaly		Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
	Synonym(s): - Non-syndromic bicornal synostosis		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye 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: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: No OMIM references No MeSH references

Isolated brachycephaly
	Very frequent - Brachycephaly / flat occiput - Broad forehead Frequent - Cranial hypertension - Flat supraorbital ridge - Hearing loss / hypoacusia / deafness - Proptosis / exophthalmos Occasional - Autosomal dominant inheritance - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Short hand / brachydactyly
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
(no data available)