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Congenital intrauterine infection-like syndrome
1 OMIM reference -
1 associated gene
17 connected diseases
8 signs/symptoms
Disease Type of connection
Syndromic multisystem autoimmune disease due to Itch deficiency
X-linked Charcot-Marie-Tooth disease type 1
X-linked progressive cerebellar ataxia
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Spinocerebellar ataxia type 14
Synonym(s):
- Baraitser-Brett-Piesowicz syndrome
- Baraitser-Reardon syndrome
- Microcephaly - intracranial calcification - intellectual deficit
- Pseudo-TORCH syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
OCLN Q16625602876
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