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Symbol
Name
ID

Ryr1
ryanodine receptor 1, skeletal muscle
MGI:99659

Phenotype annotations related to craniofacial

Darker colors indicate more annotations

Human Phenotypes	Scaphocephaly	Myopathic facies	Midface retrusion	Abnormality of masseter muscle	Weakness of facial musculature	Facial palsy	Deep philtrum	High palate	Low hanging columella	Broad nasal tip	Downslanted palpebral fissures
Disease(s) Associated with RYR1	Scaphocephaly	Myopathic facies	Midface retrusion	Abnormality of masseter muscle	Weakness of facial musculature	Facial palsy	Deep philtrum	High palate	Low hanging columella	Broad nasal tip	Downslanted palpebral fissures
congenital myopathy 1A
congenital myopathy 1B
King Denborough syndrome
malignant hyperthermia

Mouse Phenotypes		domed cranium	cleft secondary palate
Availability	Mouse Genotype
	Ryr1^tm1.1Dhm/Ryr1^tm1.1Dhm

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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