Foveal Hypoplasia 2 (FVH2)

Alias:
Foveal Hypoplasia - Optic Nerve Decussation Defect - Anterior Segment Dysgenesis Syndrome
Foveal Hypoplasia and Anterior Segment Dysgenesis
Fhonda
Fvh2
Foveal Hypoplasia 2 with Optic Nerve Decussation Defects and Anterior Segment Dysgenesis Without Albinism
Hypoplasia, Foveal, Type 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis
Foveal Hypoplasia, Optic Nerve Decussation Defects, and Anterior Segment Dysgenesis Without Albinism
Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis
Foveal Hypoplasia 2 with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis
Foveal Hypoplasia with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis
Foveal Hypoplasia 2 and Optic Nerve Misrouting with or Without Anterior Segment Dysgenesis
Foveal Hypoplasia-Optic Nerve Decussation Defect-Anterior Segment Dysgenesis Syndrome
Fhonda Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Foveal Hypoplasia 2, also known as foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, is related to albinism and anterior segment dysgenesis. An important gene associated with Foveal Hypoplasia 2 is SLC38A8 (Solute Carrier Family 38 Member 8). Affiliated tissues include eye and cortex, and related phenotypes are microphthalmia and posterior embryotoxon
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Basic Information

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

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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