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| Intellectual disability syndromic and non-syndromic v1.371 | DBX1 | Zornitza Stark Marked gene: DBX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.371 | DBX1 | Zornitza Stark Gene: dbx1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.371 | DBX1 |
Zornitza Stark gene: DBX1 was added gene: DBX1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: DBX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBX1 were set to 40995053 Phenotypes for gene: DBX1 were set to central hypoventilation syndrome, congenital MONDO:0800031 Review for gene: DBX1 was set to RED Added comment: Single individual reported with congenital central hypoventilation syndrome (atypical CCHS) with central hypotonia, global developmental delay, seizures, autoaggressive behaviour. Consanguineous parents, hmz frameshift variant c.340_341delGC, absent from gnomAD. Mouse Dbx1 knockout is lethal indicating essential role in respiration. Sources: Literature |
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