Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly (NEDFLPH)

Alias:
Nedflph
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Basic Information
Medical Symptom
Gene & Mutation
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Disease Model
References Literature
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly, is also known as nedflph. An important gene associated with Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly is TMEM147 (Transmembrane Protein 147). Affiliated tissues include brain and neutrophil, and related phenotypes are intellectual disability and delayed speech and language development
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Basic Information

Inheritance
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Prevalence
Related Gene
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Reference
MALACARDS
AR
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Medical Symptom

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Gene & Mutation

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References Literature

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