neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures
MONDO:0978301Mondo
Findings
No curated finding names neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
110 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.
- 2-3 toe cutaneous syndactylyHPOHP:0005709
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Appendicular spasticityHPOHP:0034353
- 1 of 1 reported patient
- Arachnoid cystHPOHP:0100702
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 3 of 3 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 3 of 3 reported patients
- Cerebellar atrophyHPOHP:0001272
- 8 of 8 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 2 of 2 reported patients
- Cerebral palsyHPOHP:0100021
- 1 of 1 reported patient
- ChoreoathetosisHPOHP:0001266
- 1 of 1 reported patient
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
Show the remaining 98
- Clonic seizureHPOHP:0020221
- 1 of 1 reported patient
- ClonusHPOHP:0002169
- 4 of 4 reported patients
- ConstipationHPOHP:0002019
- 1 of 1 reported patient
- Dandy-Walker malformationHPOHP:0001305
- 3 of 3 reported patients
- Delayed pubertyHPOHP:0000823
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 4 of 4 reported patients