Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism (MYMY4)

Alias:
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya Disease-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism
Chromosome Xq28 Deletion Syndrome, 3.4-Kb
Syndromic Moyamoya Disease
Moyamoya Disease 4
Mymy4
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism, also known as moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome, is related to moyamoya disease 1 and stroke, ischemic. An important gene associated with Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism is MYMY4 (Moyamoya Disease 4). Affiliated tissues include brain and eye, and related phenotypes are moyamoya phenomenon and hypertension

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
All ages
<1/1000000
1
8
2

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