ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Generalized juvenile polyposis/juvenile polyposis coli

Congenital intrauterine infection-like syndrome


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

Citations in the biomedical literature:

Generalized juvenile polyposis/juvenile polyposis coli		Congenital intrauterine infection-like syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Baraitser-Brett-Piesowicz syndrome - Baraitser-Reardon syndrome - Microcephaly - intracranial calcification - intellectual deficit - Pseudo-TORCH syndrome

	Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic 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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

Congenital intrauterine infection-like syndrome
	Very frequent - Autosomal recessive inheritance - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Intracranial / cerebral calcifications - Microcephaly - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Movement disorder
Generalized juvenile polyposis/juvenile polyposis coli
(no data available)