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Intellectual disability v3.0 EBP Zornitza Stark reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant MIM#302960, Conradi-Hunermann syndrome, MEND syndrome, MIM#300960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Intellectual disability v2.468 EBP Louise Daugherty Source Victorian Clinical Genetics Services was added to EBP.
Intellectual disability EBP BRIDGE consortium edited their review of EBP
Intellectual disability EBP BRIDGE consortium edited their review of EBP
Intellectual disability EBP BRIDGE consortium reviewed EBP