Syndromic X-linked Intellectual Disability due to JARID1C Mutation
Presentation
Hematological
- Hemophilia A
A 306700 F9 Hemophilia B 306900 HAL Histidinemia 235800 HMGCL HMG-CoA lyase deficiency 246450 HLCS Holocarboxylase synthetase deficiency 253270 MTHFR Homocystinuria due to MTHFR deficiency 236250 MTRR Homocystinuria-megaloblastic anemia, cbl E type 236270 [qgenomics.com]
Entire Body System
- Anemia
227650 FANCC Fanconi anemia, complementation group C 227645 G6PD Favism 134700 SLC46A1 Folate malabsorption, hereditary 229050 FMR1 Fragile X syndrome 300624 FXN Friedreich ataxia with retained reflexes 229300 ALDOB Fructose intolerance 229600 FH Fumarase [qgenomics.com]