Foveal Hypoplasia 2 (FVH2)

Foveal Hypoplasia 2(来自ICD-11)
别称:
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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基础信息

遗传方式
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参考文献
MALACARDS
AR
Newborn
<1/1000000
1
6
6

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靶点药物

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MGI
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