neurodevelopmental disorder with hypotonia and gross motor and speech delay
MONDO:0859207Mondo
Findings
No curated finding names neurodevelopmental disorder with hypotonia and gross motor and speech delay 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
10 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.
- Delayed speech and language developmentHPOHP:0000750
- 8 of 8 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 8 of 8 reported patients
- HypotoniaHPOHP:0001252
- 7 of 8 reported patients
- Inability to walkHPOHP:0002540
- 5 of 6 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 5 of 8 reported patients
- Lower limb spasticityHPOHP:0002061
- 5 of 8 reported patients
- Short statureHPOHP:0004322
- 3 of 6 reported patients
- Aggressive behaviorHPOHP:0000718
- 2 of 6 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 6 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 6 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.
- UBE4AHGNC:12499
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025