neurodevelopmental disorder with microcephaly and movement abnormalities
MONDO:0957531Mondo
Findings
No curated finding names neurodevelopmental disorder with microcephaly and movement 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
HPO, annotations 2026-09-02
Features
32 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
- 11 of 11 reported patients
- Global developmental delayHPOHP:0001263
- 11 of 11 reported patients
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- Delayed ability to walkHPOHP:0031936
- 9 of 11 reported patients
- MicrocephalyHPOHP:0000252
- 9 of 11 reported patients
- Short statureHPOHP:0004322
- 8 of 11 reported patients
- StrabismusHPOHP:0000486
- 6 of 11 reported patients
- ScoliosisHPOHP:0002650
- 5 of 10 reported patients
- HypotoniaHPOHP:0001252
- 5 of 11 reported patients
- Lower limb spasticityHPOHP:0002061
- 4 of 11 reported patients
- SeizureHPOHP:0001250
- 4 of 11 reported patients
- GynecomastiaHPOHP:0000771
- 2 of 6 reported patients
Show the remaining 20
- Vesicoureteral refluxHPOHP:0000076
- 2 of 7 reported patients
- ChoreaHPOHP:0002072
- 6 of 22 reported patients
- Gait ataxiaHPOHP:0002066
- 3 of 11 reported patients
- Smooth philtrumHPOHP:0000319
- 3 of 11 reported patients
- EsotropiaHPOHP:0000565
- 2 of 11 reported patients
- Waddling gaitHPOHP:0002515
- 2 of 11 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.
- TTI1HGNC:29029
- Strong · Broad Center for Mendelian Genomics · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025