Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay (SOFM)

Alias:
Sofm
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay, also known as sofm, is related to hyperostosis and tooth agenesis. An important gene associated with Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay is POLR3GL (RNA Polymerase III Subunit GL). Affiliated tissues include bone and thalamus, and related phenotypes are growth delay and motor delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
5
2

Medical Symptom

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Description
HPO Frequency
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No data available

Gene & Mutation

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Disease Model

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MGI
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Publications
No data available

References Literature

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