Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome(来自ICD-11)
别称:
Autosomal Recessive Chorioretinopathy-Microcephaly-Intellectual Disability Syndrome
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Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome, also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome, is related to microcephaly chorioretinopathy recessive form and microcephaly and chorioretinopathy 3. An important gene associated with Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome is TUBGCP4 (Tubulin Gamma Complex Component 4), and among its related pathways/superpathways are Cell Cycle, Mitotic and Loss of Nlp from mitotic centrosomes. Affiliated tissues include eye and brain, and related phenotypes are microcephaly and abnormality of retinal pigmentation
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MALACARDS
AR
Newborn
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4
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