Congenital Cataracts, Facial Dysmorphism, and Neuropathy (CCFDN)

Congenital Cataracts, Facial Dysmorphism, and Neuropathy(来自ICD-11)

别称:

Ccfdn

Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome

Cataract, Congenital, with Facial Dysmorphism and Neuropathy

Cataracts, Congenital, Facial Dysmorphism, and Neuropathy

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Cataracts, Facial Dysmorphism, and Neuropathy, also known as ccfdn, is related to cataract and ctdp1-related congenital cataracts, facial dysmorphism, and neuropathy, and has symptoms including ataxia and abnormal pyramidal signs. An important gene associated with Congenital Cataracts, Facial Dysmorphism, and Neuropathy is CTDP1 (CTD Phosphatase Subunit 1). Affiliated tissues include spinal cord and eye, and related phenotypes are nystagmus and ataxia

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