intellectual developmental disorder with seizures and dysmorphic facies
MONDO:0980942Mondo
Findings
No curated finding names intellectual developmental disorder with seizures and dysmorphic facies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
26 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.
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 1 of 1 reported patient
- Broad foreheadHPOHP:0000337
- 1 of 1 reported patient
- Broad philtrumHPOHP:0000289
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- EEG with central sharp wavesHPOHP:0011293
- 1 of 1 reported patient
- Everted lower lip vermilionHPOHP:0000232
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- Genu valgumHPOHP:0002857
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
Show the remaining 14
- HyperactivityHPOHP:0000752
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Hypoplastic nasal tipHPOHP:0005278
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Lumbar hyperlordosisHPOHP:0002938
- 1 of 1 reported patient
- Moderate intellectual disabilityHPOHP:0002342
- 1 of 1 reported patient
Where it sits
- A kind of