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Symbol
Name
ID
Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
MGI:105089
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Frontal bossing
Dolichocephaly
Scaphocephaly
Micrognathia
Retrognathia
Microcephaly
Macrocephaly
Delayed cranial suture closure
Large fontanelles
High forehead
Long philtrum
Cleft palate
High palate
Depressed nasal bridge
Upslanted palpebral fissure
Epicanthus
Disease(s) Associated with HSD17B4
D-bifunctional protein deficiency
Perrault syndrome

Mouse Phenotypes
abnormal tooth morphology
Availability Mouse Genotype
Hsd17b4em1(IMPC)Tcp/Hsd17b4em1(IMPC)Tcp

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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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory