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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Severe congenital nemaline myopathy
Congenital intrauterine infection-like syndrome

ACTA1 OCLN
KLHL40
KLHL41
NEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.65)
OCLN



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Congenital intrauterine infection-like syndrome
OCLN



Severe congenital nemaline myopathy
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 genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
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: child / adolescent
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:
No OMIM references
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



Severe congenital nemaline myopathy

(no data available)