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Repository for lectin-assisted multimodality data
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Pitt-Hopkins syndrome
Summary
- Definition
- A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
- Super Class
- autosomal dominant disease syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15884 | Transcription factor 4 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q60722 | Transcription factor 4 |
