developmental and epileptic encephalopathy 89
MONDO:0030856Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 89 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 · Neonatal death · Death in childhood
HPO, annotations 2026-09-02
Features
43 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.
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 10 of 10 reported patients
- EEG with burst suppressionHPOHP:0010851
- 7 of 10 reported patients
- Cleft palateHPOHP:0000175
- 7 of 11 reported patients
- Epileptic spasmHPOHP:0011097
- 6 of 11 reported patients
- Flexion contractureHPOHP:0001371
- 6 of 11 reported patients
- Myoclonic seizureHPOHP:0032794
- 6 of 11 reported patients
- Axial hypotoniaHPOHP:0008936
- 5 of 11 reported patients
- SpasticityHPOHP:0001257
- 5 of 11 reported patients
- Talipes equinovarusHPOHP:0001762
- 5 of 11 reported patients
- HypertelorismHPOHP:0000316
- 4 of 11 reported patients
- ScoliosisHPOHP:0002650
- 4 of 11 reported patients
Show the remaining 31
- DystoniaHPOHP:0001332
- 3 of 11 reported patients
- HypertoniaHPOHP:0001276
- 3 of 11 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 9 reported patients
- Cerebral atrophyHPOHP:0002059
- 2 of 9 reported patients
- Clitoral hypertrophyHPOHP:0008665
- 1 of 5 reported patients · Female
- Hypoplastic labia majoraHPOHP:0000059
- 1 of 5 reported patients · Female
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GAD1HGNC:4092
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2015
Where it sits
Other names
1 name
Resolves to: developmental and epileptic encephalopathy 89
- Also called
- DEE89