Focal Facial Dermal Dysplasia 3, Setleis Type (FFDD3)

Alias:
Focal Facial Dermal Dysplasia Type Iii
Setleis Syndrome
Ffdd3
Ffdd Type Iii
Bitemporal Forceps Marks Syndrome
Facial Ectodermal Dysplasia
Focal Facial Dermal Dysplasia, Type Ii, Formerly
Dysplasia, Dermal, Focal Facial, Type 3
Congenital Ectodermal Dysplasia of Face
Focal Facial Dermal Dysplasia Type Ii
Ffdd Type Ii
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Focal Facial Dermal Dysplasia 3, Setleis Type, also known as focal facial dermal dysplasia type iii, is related to ablepharon-macrostomia syndrome and focal facial dermal dysplasia 1, brauer type. An important gene associated with Focal Facial Dermal Dysplasia 3, Setleis Type is TWIST2 (Twist Family BHLH Transcription Factor 2). Affiliated tissues include skin, and related phenotypes are prematurely aged appearance and aplasia/hypoplasia of the skin
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Antenatal
--
1
8
13

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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