microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia
MONDO:0980935Mondo
Findings
No curated finding names microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
52 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
- AgyriaHPOHP:0031882
- 1 of 1 reported patient
- AstigmatismHPOHP:0000483
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 2 reported patients
- Broad nasal tipHPOHP:0000455
- 2 of 2 reported patients
- Cafe-au-lait spotHPOHP:0000957
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebellar hypoplasiaHPOHP:0001321
- 4 of 4 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 3 of 3 reported patients
- Chronic constipationHPOHP:0012450
- 2 of 2 reported patients
- EncephalopathyHPOHP:0001298
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
Show the remaining 40
- Focal-onset seizureHPOHP:0007359
- 1 of 1 reported patient
- Hip dislocationHPOHP:0002827
- 1 of 1 reported patient
- Hippocampal malrotationHPOHP:0034396
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 3 of 3 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 2 of 2 reported patients