Thauvin-Robinet-Faivre Syndrome (TROFAS)

Alias:
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Trofas
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Thauvin-Robinet-Faivre Syndrome, also known as tall stature-intellectual disability-renal anomalies syndrome, is related to overgrowth syndrome and cryptorchidism, unilateral or bilateral. An important gene associated with Thauvin-Robinet-Faivre Syndrome is FIBP (FGF1 Intracellular Binding Protein). Affiliated tissues include kidney and heart, and related phenotypes are macrocephaly and intellectual disability
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
1
4
2

Medical Symptom

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

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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