neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
MONDO:0859274Mondo
Findings
No curated finding names neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies 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
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
27 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.
- Ankle clonusHPOHP:0011448
- 5 of 5 reported patients
- Brisk reflexesHPOHP:0001348
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 5 of 5 reported patients
- Frequent fallsHPOHP:0002359
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Intention tremorHPOHP:0002080
- 5 of 5 reported patients
- Lower limb hypertoniaHPOHP:0006895
- 5 of 5 reported patients
- StrabismusHPOHP:0000486
- 4 of 5 reported patients
- High palateHPOHP:0000218
- 3 of 5 reported patients
- Low insertion of columellaHPOHP:0010763
- 3 of 5 reported patients
- Pes valgusHPOHP:0008081
- 3 of 5 reported patients
Show the remaining 15
- Recurrent otitis mediaHPOHP:0000403
- 3 of 5 reported patients
- BrachydactylyHPOHP:0001156
- 2 of 5 reported patients
- HypotoniaHPOHP:0001252
- 2 of 5 reported patients · Childhood onset
- Long noseHPOHP:0003189
- 2 of 5 reported patients
- BrachycephalyHPOHP:0000248
- 1 of 5 reported patients
- Broad nasal tipHPOHP:0000455
- 1 of 5 reported patients