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Childhood-onset nemaline myopathy

6 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Congenital intrauterine infection-like syndrome

1 OMIM reference -
1 associated gene
8 signs/symptoms

Childhood-onset nemaline myopathy

Congenital intrauterine infection-like syndrome

ACTA1	(UniProt - OMIM)		OCLN	(UniProt - OMIM)
KBTBD13	(UniProt - OMIM)
KLHL41	(UniProt - OMIM)
NEB	(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:

Childhood-onset nemaline myopathy		Congenital intrauterine infection-like syndrome
	Synonym(s): - Mild nemaline myopathy		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: childhood 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: 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
Childhood-onset nemaline myopathy
(no data available)