Microphthalmia, Syndromic 6 (MCOPS6)

Microphthalmia, Syndromic 6(来自ICD-11)

别称:

Microphthalmia with Brain and Digit Anomalies

Mcops6

Microphthalmia and Pituitary Anomalies

Syndromic Microphthalmia Type 6

Bakrania-Ragge Syndrome

Microphthalmia with Brain and Digit Developmental Anomalies

Syndromic Microphthalmia 6

Anophthalmia, Clinical, with Micrognathia, Malformed Ears, Digital Anomalies, and Abnormal External Genitalia

Clinical Anophthalmia with Micrognathia, Malformed Ears, Digital Anomalies and Abnormal External Genitalia

Anophthalmia Clinical with Micrognathia Malformed Ears Digital Anomalies and Abnormal External Genitalia

Microphthalmia Syndromic, Type 6

Microphthalmia, Syndromic, 6

Orofacial Cleft 11

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Microphthalmia, Syndromic 6, also known as microphthalmia with brain and digit anomalies, is related to cloacal exstrophy and myositis ossificans. An important gene associated with Microphthalmia, Syndromic 6 is BMP4 (Bone Morphogenetic Protein 4), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Breast cancer pathway. Affiliated tissues include brain and eye, and related phenotypes are anophthalmia and microphthalmia

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