Halperin-Birk Syndrome (HLBKS)

Alias:

Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies

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Hlbks

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Halperin-Birk Syndrome, is also known as neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies. An important gene associated with Halperin-Birk Syndrome is SEC31A (SEC31 Homolog A, COPII Coat Complex Component). Affiliated tissues include brain and eye, and related phenotypes are agenesis of corpus callosum and hyperreflexia

Related ID：

MALACARDS：HLP033

OMIM：618651

MESH：D065886