ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Congenital intrauterine infection-like syndrome

Syndromic multisystem autoimmune disease due to Itch deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	OCLN	(0.9)	ITCH

Citations in the biomedical literature:

Congenital intrauterine infection-like syndrome		Syndromic multisystem autoimmune disease due to Itch deficiency
	Synonym(s): - Baraitser-Brett-Piesowicz syndrome - Baraitser-Reardon syndrome - Microcephaly - intracranial calcification - intellectual deficit - Pseudo-TORCH syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare gastroenterologic disease - Rare genetic disease - Rare immune disease - Rare neurologic disease - Rare respiratory disease - Rare systemic or rheumatologic disease

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

	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 / 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
Syndromic multisystem autoimmune disease due to Itch deficiency
(no data available)