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Congenital fiber-type disproportion myopathy
2 OMIM references -
7 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Congenital intrauterine infection-like syndrome
1 OMIM reference -
1 associated gene
8 signs/symptoms
Congenital fiber-type disproportion myopathy
Congenital intrauterine infection-like syndrome

ACTA1
(UniProt - OMIM)
 OCLN
(UniProt - OMIM)
ITGA7
(UniProt - OMIM)
MYL2
(UniProt - OMIM)
PTPLA
(UniProt - OMIM)
SEPN1
(UniProt - OMIM)
TPM2
(UniProt - OMIM)
TPM3
(UniProt - OMIM)

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


Citations in the biomedical literature:


Congenital fiber-type disproportion myopathy
ACTA1 ITGA7 MYL2 PTPLA SEPN1 TPM2
TPM3
Congenital intrauterine infection-like syndrome
OCLN



Congenital fiber-type disproportion myopathy
Congenital intrauterine infection-like syndrome

Synonym(s):
- CFTDM
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: unknown
Average age onset: neonatal/infancy
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:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Autosomal recessive inheritance

Congenital fiber-type disproportion myopathy
Congenital intrauterine infection-like syndrome

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Areflexia / hyporeflexia
- Hypotonia
- Myopathy

Frequent
- Pectus excavatum
- Repeat respiratory infections
- Scoliosis



Very frequent
- 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