neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
MONDO:0859176Mondo
Findings
No curated finding names neurodevelopmental disorder with motor and speech delay 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
HPO, annotations 2026-09-02
Features
22 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 ability to walkHPOHP:0031936
- 17 of 17 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 17 of 17 reported patients
- Global developmental delayHPOHP:0001263
- 17 of 17 reported patients
- Motor delayHPOHP:0001270
- 17 of 17 reported patients
- HypotoniaHPOHP:0001252
- 10 of 15 reported patients
- MicrocephalyHPOHP:0000252
- 8 of 17 reported patients
- Broad-based gaitHPOHP:0002136
- 5 of 12 reported patients
- SeizureHPOHP:0001250
- 7 of 17 reported patients
- Aggressive behaviorHPOHP:0000718
- 6 of 17 reported patients
- TremorHPOHP:0001337
- 5 of 17 reported patients
- Motor stereotypyHPOHP:0000733
- 4 of 17 reported patients
- StrabismusHPOHP:0000486
- 3 of 17 reported patients
Show the remaining 10
- Autistic behaviorHPOHP:0000729
- 2 of 17 reported patients
- Elbow flexion contractureHPOHP:0002987
- 2 of 17 reported patients
- HydrocephalusHPOHP:0000238
- 2 of 17 reported patients
- HyperactivityHPOHP:0000752
- 2 of 17 reported patients
- Small nailHPOHP:0001792
- 2 of 17 reported patients
- Spastic tetraparesisHPOHP:0001285
- 2 of 17 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.
- TMEM222HGNC:25363
- Definitive · LiferaOmics · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025