neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
MONDO:0060642Mondo
Findings
No curated finding names neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 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
43 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.
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Happy demeanorHPOHP:0040082
- 7 of 7 reported patients
- HypotoniaHPOHP:0001252
- 7 of 7 reported patients · Infantile onset
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Motor delayHPOHP:0001270
- 7 of 7 reported patients
- Unsteady gaitHPOHP:0002317
- 6 of 6 reported patients
- Absent speechHPOHP:0001344
- 6 of 7 reported patients
- AtaxiaHPOHP:0001251
- 5 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 5 of 7 reported patients
- Coarse facial featuresHPOHP:0000280
- 2 of 3 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 4 of 7 reported patients
- HyperactivityHPOHP:0000752
- 4 of 7 reported patients
Show the remaining 31
- EsotropiaHPOHP:0000565
- 3 of 7 reported patients
- Progressive microcephalyHPOHP:0000253
- 3 of 7 reported patients
- Progressive spasticityHPOHP:0002191
- 3 of 7 reported patients
- Advanced eruption of teethHPOHP:0006288
- 2 of 7 reported patients
- Axial hypotoniaHPOHP:0008936
- 2 of 7 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 7 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.
- ZSWIM6HGNC:29316
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025