ODCs

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1 OMIM reference -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Trismus - pseudocamptodactyly

Autosomal dominant Charcot-Marie-Tooth disease type 2O

MYH8	(UniProt - OMIM)		DYNC1H1	(UniProt - OMIM)
TPM2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TPM2	(0.49)	DYNC1H1

Citations in the biomedical literature:

Trismus - pseudocamptodactyly		Autosomal dominant Charcot-Marie-Tooth disease type 2O
	Synonym(s): - Distal arthrogryposis type 7 - Dutch-Kentucky syndrome - Hecht syndrome - Hecht-Beals syndrome		Synonym(s): - CMT2O

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - 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
Autosomal dominant Charcot-Marie-Tooth disease type 2O
(no data available)