Lichtenstein-Knorr Syndrome (LIKNS)

Alias:

Scar19

Autosomal Recessive Spinocerebellar Ataxia 19

Likns

Progressive Autosomal Recessive Ataxia-Sensorineural Hearing Loss Syndrome

Progressive Autosomal Recessive Ataxia-Deafness Syndrome

Spinocerebellar Ataxia, Autosomal Recessive, 19

Spinocerebellar Ataxia, Autosomal Recessive 19

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Lichtenstein-Knorr Syndrome, also known as scar19, is related to sensorineural hearing loss and aceruloplasminemia. An important gene associated with Lichtenstein-Knorr Syndrome is SLC9A1 (Solute Carrier Family 9 Member A1). Affiliated tissues include brain, and related phenotypes are nystagmus and short stature

Related ID：

MALACARDS：LCH015

OMIM：616291

MESH：D002524