Temple Syndrome

Alias:
Motor Developmental Delay Due to 14q32.2 Paternally Expressed Gene Defect
Temple Syndrome Due to Maternal Uniparental Disomy of Chromosome 14
Temple Syndrome Due to Paternal 14q32.2 Hypomethylation
Temple Syndrome Due to Paternal 14q32.2 Microdeletion
Uniparental Disomy, Maternal, Chromosome 14
Paternal Del(14)(q32.2)
Upd(14)mat
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Temple Syndrome, also known as motor developmental delay due to 14q32.2 paternally expressed gene defect, is related to central precocious puberty and schaaf-yang syndrome. An important gene associated with Temple Syndrome is TEMPS (Temple Syndrome). Affiliated tissues include bone and testes, and related phenotypes are precocious puberty and hypotonia

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
26
172
7

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
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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