neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies
MONDO:0976130Mondo
Findings
No curated finding names neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies 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
- Infantile 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.
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Babinski signHPOHP:0003487
- 3 of 3 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 2 reported patients
- Broad-based gaitHPOHP:0002136
- 5 of 5 reported patients
- ClonusHPOHP:0002169
- 2 of 2 reported patients
- Decreased body weightHPOHP:0004325
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- FallsHPOHP:0002527
- 2 of 2 reported patients
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
Show the remaining 27
- Poor suckHPOHP:0002033
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 4 of 4 reported patients
- Shawl scrotumHPOHP:0000049
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 5 of 5 reported patients
- SpasticityHPOHP:0001257
- 1 of 1 reported patient
- Steppage gaitHPOHP:0003376
- 2 of 2 reported patients
Where it sits
- A kind of