neurodevelopmental disorder with spasticity and poor growth
MONDO:0060752Mondo
Findings
No curated finding names neurodevelopmental disorder with spasticity and poor growth 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
67 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.
- Axial hypotoniaHPOHP:0008936
- 8 of 8 reported patients
- Failure to thriveHPOHP:0001508
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- Growth delayHPOHP:0001510
- 8 of 8 reported patients
- Limb hypertoniaHPOHP:0002509
- 8 of 8 reported patients
- Secondary microcephalyHPOHP:0005484
- 7 of 8 reported patients
- SeizureHPOHP:0001250
- 4 of 8 reported patients
- Short statureHPOHP:0004322
- 8 of 16 reported patients
- HyperreflexiaHPOHP:0001347
- 3 of 8 reported patients
- Anteverted naresHPOHP:0000463
- 2 of 8 reported patients
- EsotropiaHPOHP:0000565
- 2 of 8 reported patients
- HypsarrhythmiaHPOHP:0002521
- 2 of 8 reported patients
Show the remaining 55
- Intention tremorHPOHP:0002080
- 2 of 8 reported patients
- SpasticityHPOHP:0001257
- 2 of 8 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 6 reported patients
- Absent speechHPOHP:0001344
- 1 of 8 reported patients
- Achilles tendon contractureHPOHP:0001771
- 1 of 8 reported patients
- AmblyopiaHPOHP:0000646
- 1 of 8 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.
- UFC1HGNC:26941
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019