Synpolydactyly 2 (SPD2)

Alias:
Synpolydactyly Type 2
Synpolydactyly, 3/3'4, Associated with Metacarpal and Metatarsal Synostoses
Spd2
Synpolydactyly, 3/3-Prime/4, Associated with Metacarpal and Metatarsal Synostoses
Synpolydactyly, Debeer Type
Synpolydactyly, Type 2
Sd2, Debeer Type
Spd, Debeer Type
Sd2b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Synpolydactyly 2, also known as synpolydactyly type 2, is related to polydactyly, preaxial iv and chromosome 2q35 duplication syndrome. An important gene associated with Synpolydactyly 2 is FBLN1 (Fibulin 1). Affiliated tissues include bone and thymus, and related phenotypes are toe syndactyly and tarsal synostosis

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
5
5

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

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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
Journal
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IF
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