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Symbol
Name
ID
Srd5a3
steroid 5 alpha-reductase 3
MGI:1930252
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Dysphagia
Decreased response to growth hormone stimulation test
Spasticity
Abnormal brain morphology
Polymicrogyria
Abnormal cerebellum morphology
Abnormal cerebellar vermis morphology
Cerebellar vermis hypoplasia
Cerebellar atrophy
Ataxia
Intellectual disability
Intellectual disability, severe
Global developmental delay
Motor delay
Seizure
Disease(s) Associated with SRD5A3
congenital disorder of glycosylation Iq
Kahrizi syndrome

Mouse Phenotypes
open neural tube
Availability Mouse Genotype
Srd5a3Gt(OST436695)Lex/Srd5a3Gt(OST436695)Lex

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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Funding Information
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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory