Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies (IDDCDF)

Alias:
Iddcdf
Tmem94-Associated Congenital Heart Defect-Facial Dysmorphism-Developmental Delay Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies, is also known as iddcdf. An important gene associated with Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies is TMEM94 (Transmembrane Protein 94). Affiliated tissues include heart and eye, and related phenotypes are delayed speech and language development and specific learning 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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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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