ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

2 OMIM references -
3 associated genes
12 signs/symptoms

Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis

Isolated brachycephaly


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

Citations in the biomedical literature:

Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis		Isolated brachycephaly
	Synonym(s): - Pancreatic and cerebellar agenesis		Synonym(s): - Non-syndromic bicornal synostosis

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		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

Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis		Isolated brachycephaly
	Very frequent - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Insulin-independent / type 2 diabetes - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Triangular face Frequent - Structural anomalies of the pancreas		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