Intellectual Developmental Disorder, X-Linked, Syndromic, with Pigmentary Mosaicism and Coarse Facies (MRXSPF)

Alias:
Intellectual Developmental Disorder, X-Linked Syndromic, with Pigmentary Mosaicism and Coarse Facies
Mrxspf
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Developmental Disorder, X-Linked, Syndromic, with Pigmentary Mosaicism and Coarse Facies, is also known as intellectual developmental disorder, x-linked syndromic, with pigmentary mosaicism and coarse facies. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, with Pigmentary Mosaicism and Coarse Facies is TFE3 (Transcription Factor Binding To IGHM Enhancer 3). Affiliated tissues include bone and skin, and related phenotypes are intellectual disability and hypotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
XL
XLR
Unknown
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1
4
3

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
No data available

Related Drugs

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CAS Number
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Phase
No data available

Disease Model

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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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