Ayme-Gripp Syndrome (AYGRP)

Ayme-Gripp Syndrome(来自ICD-11)
别称:
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Fine-Lubinsky Syndrome
Aymé-Gripp Syndrome
Aygrp
Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome
Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome
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Ayme-Gripp Syndrome, also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, is related to cataract and brachycephaly, deafness, cataract, microstomia, and impaired intellectual development, and has symptoms including seizures An important gene associated with Ayme-Gripp Syndrome is MAF (MAF BZIP Transcription Factor), and among its related pathways/superpathways are AP-1 transcription factor network and Tacrolimus/Cyclosporine Pathway, Pharmacodynamics. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and global developmental delay
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参考文献
MALACARDS
AR
AD
Newborn
<1/1000000
15
68
20

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