neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
MONDO:0060624Mondo
Findings
No curated finding names neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 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
- Infantile onset
HPO, annotations 2026-09-02
Features
41 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.
- Absent speechHPOHP:0001344
- 5 of 5 reported patients
- Broad-based gaitHPOHP:0002136
- 3 of 3 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 4 of 4 reported patients
- Delayed ability to walkHPOHP:0031936
- 4 of 4 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 5 of 5 reported patients
- Gait disturbanceHPOHP:0001288
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Reduced cerebral white matter volumeHPOHP:0034295
- 5 of 5 reported patients
- Tapered fingerHPOHP:0001182
- 5 of 5 reported patients
- Thin corpus callosumHPOHP:0033725
- 4 of 4 reported patients
Show the remaining 29
- VentriculomegalyHPOHP:0002119
- 5 of 5 reported patients
- Hip dysplasiaHPOHP:0001385
- 4 of 5 reported patients
- HypotoniaHPOHP:0001252
- 4 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 5 reported patients
- Gait ataxiaHPOHP:0002066
- 2 of 3 reported patients
- NystagmusHPOHP:0000639
- 2 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RAB11BHGNC:9761
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020