Glass Syndrome (GLASS)

Alias:

Chromosome 2q32-Q33 Deletion Syndrome

Satb2-Associated Syndrome

2q33.1 Microdeletion Syndrome

2q32q33 Microdeletion Syndrome

2q32 Deletion Syndrome

Monosomy 2q32q33

Monosomy 2q32

Sas

Satb2-Associated Syndrome Due to a Chromosomal Rearrangement

Satb2-Associated Syndrome Due to a Pathogenic Variant

Satb2-Associated Syndrome Due to a Point Mutation

2q32-Q33 Microdeletion Syndrome

Satb2 Associated Disorder

Monosomy 2q32-Q33

Monosomy 2q33.1

Del(2)(q32q33)

Del(2)(q33.1)

Del(2)(q32)

Glass

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Glass Syndrome, also known as chromosome 2q32-q33 deletion syndrome, is related to tooth agenesis and rett syndrome, and has symptoms including thin, sparse hair An important gene associated with Glass Syndrome is SATB2 (SATB Homeobox 2), and among its related pathways/superpathways are Cohesin complex - Cornelia de Lange syndrome and Rett syndrome causing genes. Affiliated tissues include bone and brain, and related phenotypes are intellectual disability and global developmental delay

Related ID：

MALACARDS：GLS018

OMIM：612313

MESH：C567350