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Biemond Syndrome Ii

Alias:
Biemond Syndrome Type 2
Hypogonadism-Short Stature-Coloboma-Preaxial Polydactyly Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Biemond Syndrome Ii, also known as biemond syndrome type 2, is related to aniridia 1 and brachydactyly-nystagmus-cerebellar ataxia. Related phenotypes are intellectual disability and hydrocephalus
Related ID：
MALACARDS：BMN004
OMIM：210350

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
--
--
2
BMN004

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!
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