Perching Syndrome (PERCHING)

Alias:
Perching
Crisponi/cold-Induced Sweating Syndrome 3, Formerly
Crisponi/cold-Induced Sweating Syndrome 3
Ciss3, Formerly
Ciss3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Perching Syndrome, also known as perching, is related to klhl7-related bohring-opitz-like and crisponi/cold-induced sweating-like overlap syndrome and hydrocephalus, congenital, 1. An important gene associated with Perching Syndrome is KLHL7 (Kelch Like Family Member 7). Affiliated tissues include brain and bone, and related phenotypes are dysphagia and high palate
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
4
8

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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