Galloway-Mowat Syndrome 1 (GAMOS1)

Galloway-Mowat Syndrome 1(来自ICD-11)

别称:

Scar5

Nephrosis-Neuronal Dysmigration Syndrome

Nephrosis-Microcephaly Syndrome

Galloway Syndrome

Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome

Microcephaly, Hiatal Hernia, and Nephrotic Syndrome

Microcephaly, Hiatal Hernia and Nephrotic Syndrome

Galloway-Mowat Syndrome

Camos Syndrome

Gamos1

Camos

Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin Abnormalities

Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly

Spinocerebellar Ataxia, Autosomal Recessive, 5

Spinocerebellar Ataxia, Autosomal Recessive 5

Autosomal Recessive Spinocerebellar Ataxia 5

Nephrosis Neuronal Dysmigration Syndrome

Galloway Mowat Syndrome

Scar5, Formerly

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Galloway-Mowat Syndrome 1, also known as scar5, is related to galloway-mowat syndrome 2 and polymicrogyria. An important gene associated with Galloway-Mowat Syndrome 1 is WDR73 (WD Repeat Domain 73), and among its related pathways/superpathways are tRNA processing and Markers of kidney cell lineage. Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and ataxia

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