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Muscle filaminopathy

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Trismus - pseudocamptodactyly

1 OMIM reference -
2 associated genes
8 signs/symptoms

Muscle filaminopathy

Trismus - pseudocamptodactyly

FLNC	(UniProt - OMIM)		MYH8	(UniProt - OMIM)
			TPM2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNC	(0.63)	TPM2

Citations in the biomedical literature:

Muscle filaminopathy		Trismus - pseudocamptodactyly
	Synonym(s): (no synonyms)		Synonym(s): - Distal arthrogryposis type 7 - Dutch-Kentucky syndrome - Hecht syndrome - Hecht-Beals syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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

Trismus - pseudocamptodactyly
	Very frequent - Autosomal dominant inheritance - Muscle anomalies - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism - Symphalangy of fingers Occasional - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Prognathism / prognathia - Ptosis
Muscle filaminopathy
(no data available)