neurodevelopmental disorder with progressive movement abnormalities
MONDO:0968976Mondo
Findings
No curated finding names neurodevelopmental disorder with progressive movement abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
79 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.
- Agenesis of corpus callosumHPOHP:0001274
- 3 of 3 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 36 of 36 reported patients
- Global developmental delayHPOHP:0001263
- 45 of 45 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- Sleep disturbanceHPOHP:0002360
- 15 of 15 reported patients
- Delayed ability to walkHPOHP:0031936
- 32 of 33 reported patients
- Stooped postureHPOHP:0025403
- 29 of 30 reported patients
- AtaxiaHPOHP:0001251
- 33 of 39 reported patients
- Lower limb spasticityHPOHP:0002061
- 27 of 34 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 24 of 36 reported patients
- Wide noseHPOHP:0000445
- 24 of 36 reported patients
Show the remaining 67
- Thin upper lip vermilionHPOHP:0000219
- 23 of 36 reported patients
- Postural instabilityHPOHP:0002172
- 15 of 25 reported patients
- Coarse facial featuresHPOHP:0000280
- 22 of 37 reported patients
- TremorHPOHP:0001337
- 22 of 37 reported patients
- SpasticityHPOHP:0001257
- 4 of 7 reported patients
- Urinary incontinenceHPOHP:0000020
- 13 of 23 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.
- ACBD6HGNC:23339
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025