Hydranencephaly

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hydranencephaly is related to proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome and lissencephaly, x-linked, 2. An important gene associated with Hydranencephaly is NDE1 (NudE Neurodevelopment Protein 1). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex, and related phenotypes are global developmental delay and blindness
Related ID:
MESH:D006832
ICD11:1963574608

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
1-9/100000
21
116
--

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
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