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fetal akinesia deformation sequence syndrome 1

Synonym

Definition

A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3.

Super Class

autosomal recessive disease fetal akinesia deformation sequence syndrome

Disease Ontology

DOID:0111377

Mondo Disease Ontology

OMIM

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
4593	MUSK	muscle associated receptor tyrosine kinase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
18198	Musk	muscle, skeletal, receptor tyrosine kinase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
81725	Musk	muscle associated receptor tyrosine kinase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
36445	Nrk	Neurospecific receptor kinase	Alliance of Genome Resources

Displaying entries **1 - 10** of 24 in total

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HPO ID	HPO Term
HP:0001262	Excessive daytime somnolence
HP:0000347	Micrognathia
HP:0001989	Fetal akinesia sequence
HP:0000175	Cleft palate
HP:0001511	Intrauterine growth retardation
HP:0000476	Cystic hygroma
HP:0000028	Cryptorchidism
HP:0001059	Pterygium
HP:0001561	Polyhydramnios
HP:0000316	Hypertelorism