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Symbol
Name
ID

Fgfr3
fibroblast growth factor receptor 3
MGI:95524

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Encephalocele

Ectopic posterior pituitary

Optic nerve hypoplasia

Brain abscess

Brain stem compression

Hydrocephalus

Ventriculomegaly

Temporal lobe dysplasia

Partial agenesis of the corpus callosum

Hypoplasia of the corpus callosum

Megalencephaly

Aplasia/Hypoplasia of the cerebellum

Cerebellar hypoplasia

Chiari malformation

Chiari type I malformation

Enlarged cerebellum

Brain atrophy

Holoprosencephaly

Abnormality of neuronal migration

Gray matter heterotopia

Increased intracranial pressure

Delayed speech and language development

Autism

Attention deficit hyperactivity disorder

Cognitive impairment

Diminished ability to concentrate

Intellectual disability

Intellectual disability, profound

Intellectual disability, severe

Sleep apnea

Obstructive sleep apnea

Headache

Migraine

Global developmental delay

Mild global developmental delay

Severe global developmental delay

Motor delay

Seizure

Focal impaired awareness seizure

Generalized-onset seizure

Disease(s) Associated with FGFR3

achondroplasia

camptodactyly-tall stature-scoliosis-hearing loss syndrome

craniosynostosis

Crouzon syndrome-acanthosis nigricans syndrome

hypochondroplasia

Muenke Syndrome

SADDAN

thanatophoric dysplasia

Mouse Phenotypes		nervous system phenotype	abnormal cochlear hair cell morphology	increased cochlear outer hair cell number	abnormal cochlear outer hair cell morphology	abnormal cochlear OHC efferent innervation pattern
Availability	Mouse Genotype	nervous system phenotype	abnormal cochlear hair cell morphology	increased cochlear outer hair cell number	abnormal cochlear outer hair cell morphology	abnormal cochlear OHC efferent innervation pattern
	Fgfr3^tm1.1Aomw/Fgfr3^tm1.1Aomw
	Fgfr3^tm1Dor/Fgfr3^tm1Dor	*		!
	Fgfr3^tm1.1Aomw/Fgfr3⁺
	Fgfr3^tm1Llm/Fgfr3⁺

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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