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Isolated brachycephaly

2 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Partial pancreatic agenesis

2 OMIM references -
2 associated genes
5 signs/symptoms

Isolated brachycephaly

Partial pancreatic agenesis

FGFR3	(UniProt - OMIM)		PDX1	(UniProt - OMIM)
TCF12	(UniProt - OMIM)		PTF1A	(UniProt - OMIM)
TWIST1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TCF12	(0.62)	PTF1A

Citations in the biomedical literature:

Isolated brachycephaly		Partial pancreatic agenesis
	Synonym(s): - Non-syndromic bicornal synostosis		Synonym(s): - Congenital pancreatic agenesis - Partial agenesis of the pancreas

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

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

	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: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

Isolated brachycephaly		Partial pancreatic agenesis
	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		Very frequent - Failure to thrive / difficulties for feeding in infancy / growth delay - Insulin-dependent / type 1 diabetes - Intrauterine growth retardation - Maternal diabetes - Structural anomalies of the pancreas