developmental and epileptic encephalopathy, 85, with or without midline brain defects
MONDO:0026771Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 85, with or without midline brain defects yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Congenital onset · Seizure cluster
HPO, annotations 2026-09-02
Features
69 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
- 11 of 11 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- CamptodactylyHPOHP:0012385
- 1 of 1 reported patient
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- Congenital diaphragmatic herniaHPOHP:0000776
- 1 of 1 reported patient · Congenital onset
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient · Infantile onset
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Dental crowdingHPOHP:0000678
- 1 of 1 reported patient
- EEG abnormalityHPOHP:0002353
- 1 of 1 reported patient
- Focal-onset seizureHPOHP:0007359
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
Show the remaining 57
- Generalized hypotoniaHPOHP:0001290
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 11 of 11 reported patients
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Highly arched eyebrowHPOHP:0002553
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- HypsarrhythmiaHPOHP:0002521
- 1 of 1 reported patient
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.
- SMC1AHGNC:11111
- Definitive · G2P · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 85, with or without midline brain defects
- Also called
- DEE85, with or without midline brain defectsdevelopmental and epileptic encephalopathy 85, with or without midline brain defects, X-linked dominantEIEE85epileptic encephalopathy, early infantile, 85, with or without midline brain defects