neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
MONDO:0980710Mondo
Findings
No curated finding names neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities 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
- Fetal onset · Second trimester onset
HPO, annotations 2026-09-02
Features
39 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.
- Abnormal periventricular white matter morphologyHPOHP:0002518
- 1 of 1 reported patient
- Brainstem dysplasiaHPOHP:0002508
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Cerebellar vermis atrophyHPOHP:0006855
- 1 of 1 reported patient
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- Cortical dysplasiaHPOHP:0002539
- 1 of 1 reported patient
- Decreased fetal movementHPOHP:0001558
- 2 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- EncephalopathyHPOHP:0001298
- 1 of 1 reported patient
- Enlarged fetal cisterna magnaHPOHP:0011427
- 1 of 1 reported patient
- Fetal skin edemaHPOHP:0025672
- 2 of 2 reported patients
- Global brain atrophyHPOHP:0002283
- 1 of 1 reported patient
Show the remaining 27
- Hydrops fetalisHPOHP:0001789
- 1 of 1 reported patient
- Interhemispheric cystHPOHP:0032327
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 1 reported patient
- LissencephalyHPOHP:0001339
- 2 of 2 reported patients
- MicrophthalmiaHPOHP:0000568
- 1 of 1 reported patient