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Metadata
ID DOID:0060428
Name SATB2-associated syndrome
Definition A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.
https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome, https://www.ncbi.nlm.nih.gov/books/NBK458647/
Xrefs

ICD10CM:Q93.5

OMIM:612313

ORDO:251019

Subsets

DO_rare_slim

Synonyms

2q32-q33 microdeletion syndrome [EXACT]

2q32q33 microdeletion syndrome [EXACT]

chromosome 2q32-q33 deletion syndrome [EXACT]

Glass syndrome [EXACT]

monosomy 2q32 [EXACT]

monosomy 2q32-q33 [EXACT]

monosomy 2q32q33 [EXACT]

Parent Relationships

is_a syndrome

is_a chromosomal deletion syndrome

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