Pseudo Pelger-Huet Anomaly

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pseudo Pelger-Huet Anomaly is related to neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly and pelger-huet anomaly. An important gene associated with Pseudo Pelger-Huet Anomaly is TMEM147 (Transmembrane Protein 147). Affiliated tissues include neutrophil and myeloid.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
3
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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