developmental and epileptic encephalopathy 121
MONDO:0980966Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 121 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
65 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent speechHPOHP:0001344
- 5 of 5 reported patients
- Appendicular hypotoniaHPOHP:0012389
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 5 of 5 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- EEG with focal epileptiform dischargesHPOHP:0011185
- 2 of 2 reported patients
- Generalized clonic seizureHPOHP:0011169
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 5 of 5 reported patients
- Impairment of activities of daily livingHPOHP:0031058
- 6 of 6 reported patients
- Inability to walk by childhood/adolescenceHPOHP:0006915
- 4 of 4 reported patients
- Limb hypertoniaHPOHP:0002509
- 1 of 1 reported patient
Show the remaining 53
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Primary microcephalyHPOHP:0011451
- 1 of 1 reported patient
- Reduced eye contactHPOHP:0000817
- 1 of 1 reported patient
- Respiratory failureHPOHP:0002878
- 3 of 3 reported patients
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
- SpasticityHPOHP:0001257
- 4 of 4 reported patients