ODCs

Cytoscape Web

Click node...

Distal 16p11.2 microdeletion syndrome

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Isolated brachycephaly

2 OMIM references -
3 associated genes
12 signs/symptoms

Distal 16p11.2 microdeletion syndrome

Isolated brachycephaly

SH2B1	(UniProt - OMIM)		FGFR3	(UniProt - OMIM)
			TCF12	(UniProt - OMIM)
			TWIST1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Distal 16p11.2 microdeletion syndrome		Isolated brachycephaly
	Synonym(s): - Distal del(16)(p11.2) - Distal monosomy 16p11.2		Synonym(s): - Non-syndromic bicornal synostosis

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 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
Distal 16p11.2 microdeletion syndrome
(no data available)