OBO ID: DOID:0060488 |
Term Name: | Pitt-Hopkins syndrome | Search Ontology: | |
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Synonyms: |
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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. (5) | ||
References: |
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Ontology: | Human Disease ( DOID:0060488 ) |
OTHER Pitt-Hopkins syndrome PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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AB/TU + MO1-tcf4 + MO2-tcf4 | standard conditions | Brockschmidt et al., 2011 |
PHENOTYPE
No data available
CITATIONS (1)
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