Additional Disease Briefs

Get Information about a Rare Disease

Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

Interested in exploring the database in detail?
Click here to explore the database in alphabetical order.

Rare Disease Database Reports Additional Rare Disease Briefs
developmental and epileptic encephalopathy, 14

Also known as: DEE14, EIEE14, KCNT1 early infantile epileptic encephalopathy, KCNT1-related epilepsy, developmental and epileptic encephalopathy 14, early infantile epileptic encephalopathy caused by mutation in KCNT1, epileptic encephalopathy, early infantile, 14, epileptic encephalopathy, early infantile, type 14

developmental and epileptic encephalopathy, 17

Also known as: DEE17, EIEE17, GNAO1 early infantile epileptic encephalopathy, GNAO1 encephalopathy, developmental and epileptic encephalopathy 17, early infantile epileptic encephalopathy caused by mutation in GNAO1, early infantile epileptic encephalopathy-17, epileptic encephalopathy, early infantile, 17, epileptic encephalopathy, early infantile, type 17

developmental and epileptic encephalopathy, 18

Also known as: DEE18, EIEE18, developmental and epileptic encephalopathy 18, early infantile epileptic encephalopathy without suppression burst, epileptic encephalopathy, early infantile, 18, epileptic encephalopathy, early infantile, type 18

developmental and epileptic encephalopathy, 19

Also known as: DEE19, EIEE19, Early Infantile epileptic encephalopathy 19, GABRA1 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 19, early infantile epileptic encephalopathy caused by mutation in GABRA1, epileptic encephalopathy, early infantile, 19, epileptic encephalopathy, early infantile, type 19

developmental and epileptic encephalopathy, 2

Also known as: CDKL5 early infantile epileptic encephalopathy, DEE2, EIEE2, developmental and epileptic encephalopathy 2, X-linked dominant, developmental and epileptic encephalopathy, 2, early infantile epileptic encephalopathy caused by mutation in CDKL5, epileptic encephalopathy, early infantile, 2, epileptic encephalopathy, early infantile, type 2, infantile spasm syndrome, X-linked 2

developmental and epileptic encephalopathy, 21

Also known as: DEE21, EIEE21, NECAP1 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 21, early infantile epileptic encephalopathy caused by mutation in NECAP1, epileptic encephalopathy, early infantile, 21, epileptic encephalopathy, early infantile, type 21

developmental and epileptic encephalopathy, 23

Also known as: EIEE23, developmental and epileptic encephalopathy 23, developmental and epileptic encephalopathy, 23, early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome, epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome, epileptic encephalopathy, early infantile, 23, epileptic encephalopathy, early infantile, type 23

developmental and epileptic encephalopathy, 24

Also known as: DEE24, EIEE24, HCN1 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 24, early infantile epileptic encephalopathy caused by mutation in HCN1, epileptic encephalopathy, early infantile, 24, epileptic encephalopathy, early infantile, type 24

  2. 1
  3. ...
  4. 299
  5. 300
  6. 301
  7. 302
  8. 303
  9. 304
  10. 305
  11. ...
  12. 1028