ODCs

Click node...

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

Spinocerebellar ataxia type 14


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

Citations in the biomedical literature:

Congenital intrauterine infection-like syndrome		Spinocerebellar ataxia type 14
	Synonym(s): - Baraitser-Brett-Piesowicz syndrome - Baraitser-Reardon syndrome - Microcephaly - intracranial calcification - intellectual deficit - Pseudo-TORCH syndrome		Synonym(s): - SCA14

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537196

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
Spinocerebellar ataxia type 14
(no data available)