GlyCosmos Portal

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 **11 - 20** of 24 in total

« First

‹ Prev

1

2

3

Next ›

Last »
HPO ID	HPO Term
HP:0002089	Pulmonary hypoplasia
HP:0000358	Posteriorly rotated ears
HP:0001305	Dandy-Walker malformation
HP:0002650	Scoliosis
HP:0005245	Intestinal hypoplasia
HP:0002304	Akinesia
HP:0010489	Absent palmar crease
HP:0002828	Multiple joint contractures
HP:0002093	Respiratory insufficiency
HP:0005280	Depressed nasal bridge