Details of Disease | DrugMAP

General Information of Disease (ID: DISNU34U)

Disease Name	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Synonyms	Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism; Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism; KFS4; Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Disease Hierarchy	DISRVCYV: Klippel-Feil syndrome DISLSK9G: Congenital myopathy DISNU34U: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Disease Identifiers	MONDO ID MONDO_0014689 UMLS CUI C4225285 OMIM ID 616549 MedGen ID 894399 Orphanet ID 447974 SNOMED CT ID 1217225001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYO18B	OTGYY4NK	Definitive	Autosomal recessive	[1]
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References

1	Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient. Neurol Genet. 2020 Jun 9;6(4):e458. doi: 10.1212/NXG.0000000000000458. eCollection 2020 Aug.