neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
MONDO:0859519Mondo
Findings
No curated finding names neurodevelopmental disorder with absent speech and movement and behavioral abnormalities 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 · Neonatal onset
HPO, annotations 2026-09-02
Features
23 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.
- Aggressive behaviorHPOHP:0000718
- 3 of 3 reported patients
- Autistic behaviorHPOHP:0000729
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypodontiaHPOHP:0000668
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 3 of 3 reported patients
- AtaxiaHPOHP:0001251
- 2 of 3 reported patients
- Hearing impairmentHPOHP:0000365
- 2 of 3 reported patients
- HypotoniaHPOHP:0001252
- 2 of 3 reported patients
- Limb dystoniaHPOHP:0002451
- 2 of 3 reported patients
- MutismHPOHP:0002300
- 2 of 3 reported patients
- ObesityHPOHP:0001513
- 2 of 3 reported patients
Show the remaining 11
- TremorHPOHP:0001337
- 2 of 3 reported patients
- Accelerated skeletal maturationHPOHP:0005616
- 1 of 3 reported patients
- Bilateral coxa valgaHPOHP:0010665
- 1 of 3 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 3 reported patients
- HyperactivityHPOHP:0000752
- 1 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.
- UBE3CHGNC:16803
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023