46,xy Gonadal Dysgenesis with Minifascicular Neuropathy (GDMN)

Alias:
46,xy Gonadal Dysgenesis-Motor and Sensory Neuropathy Syndrome
Gdmn
46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy
46xy Gonadal Dysgenesis with Minifascicular Neuropathy
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
46,xy Gonadal Dysgenesis with Minifascicular Neuropathy, is also known as 46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome. An important gene associated with 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy is DHH (Desert Hedgehog Signaling Molecule). Affiliated tissues include testis and uterus, and related phenotypes are abnormality of peripheral nerve conduction and skeletal muscle atrophy
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
6
7

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
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!
Wechat
Comparison
Al agent
Tutorials
Back to top