ODCs

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1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 associated gene
30 signs/symptoms

Generalized juvenile polyposis/juvenile polyposis coli

14q12 microdeletion syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMAD4	(0.52)	FOXG1

Citations in the biomedical literature:

Generalized juvenile polyposis/juvenile polyposis coli		14q12 microdeletion syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Del(14)(q12) - Monosomy 14q12

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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

14q12 microdeletion syndrome
	Very frequent - Antihelix anomaly - Depressed nasal bridge - Epicanthic folds - Everted lower lip - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Long / large / bulbous nose - Microcephaly - Prominent / bat ears - Psychic / psychomotor regression / dementia / intellectual decline - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tented upper lip - Tics / stereotypias Frequent - Blepharophimosis / short palpebral fissures - Corpus callosum / septum pellucidum total / partial agenesis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hyperkinesia / dyskinesia - Hypersialorrhea - Kyphosis - Macroglossia / tongue protrusion / proeminent / hypertrophic - Philtrum flat / large / featureless / absent cupidon bows - Prognathism / prognathia - Prominent metopic suture - Puffy eyelids - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Short / small nose
Generalized juvenile polyposis/juvenile polyposis coli
(no data available)