Birk-Landau-Perez Syndrome (BILAPES)

Birk-Landau-Perez Syndrome(来自ICD-11)

别称:

Psychomotor Regression-Oculomotor Apraxia-Movement Disorder-Nephropathy Syndrome

Bilapes

Cerebrorenal Syndrome, Perez Type

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Birk-Landau-Perez Syndrome, also known as psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, is related to apraxia and ptosis. An important gene associated with Birk-Landau-Perez Syndrome is SLC30A9 (Solute Carrier Family 30 Member 9). Affiliated tissues include eye and kidney, and related phenotypes are agenesis of corpus callosum and ptosis

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