Kahrizi Syndrome (KHRZ)

Alias:

Khrz

Mental Retardation, Cataract, Coloboma, and Kyphosis, Autosomal Recessive

Intellectual Disability-Cataract-Coloboma-Kyphosis Syndrome

Intellectual Disability, Kahrizi Type

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Kahrizi Syndrome, also known as khrz, is related to congenital disorder of glycosylation, type in and hermansky-pudlak syndrome 6. An important gene associated with Kahrizi Syndrome is SRD5A3 (Steroid 5 Alpha-Reductase 3), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Diseases of glycosylation. Affiliated tissues include eye, and related phenotypes are cataract and wide nasal bridge

Related ID：

MALACARDS：KHR001

OMIM：612713

MESH：C567196