OBO ID: DOID:0112213 |
Term Name: | multiple congenital anomalies-hypotonia-seizures syndrome 4 | Search Ontology: | |
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Definition: | A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3. (2) | ||
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Ontology: | Human Disease ( DOID:0112213 ) |
OTHER multiple congenital anomalies-hypotonia-seizures syndrome 4 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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