Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 2 (CFSMR2)

Alias:
Cfsmr2
Craniofacial Dysmorphism, Skeletal Anomalies and Impaired Intellectual Development Syndrome 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 2, also known as cfsmr2, is related to colorectal cancer, hereditary nonpolyposis, type 7 and craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1. An important gene associated with Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 2 is RAB5IF (RAB5 Interacting Factor). Related phenotypes are short neck and intellectual disability, severe
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Basic Information

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

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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