Overview
NEK9-related lethal skeletal dysplasia is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Fetal foot inversion
Always present (100%)HP:0001762
Poorly developed lungs
Always present (100%)HP:0002089
Short neck
Always present (100%)HP:0000470
shortened long tubular bones
Always present (100%)HP:0003026
Broad ribs
Frequent (30-79%)HP:0000885
Decreased projection of mandible
Frequent (30-79%)HP:0000347
Increased heart size
Frequent (30-79%)HP:0001640
Increased length of philtrum
Frequent (30-79%)HP:0000343
Increased variation in muscle fibre size
Frequent (30-79%)HP:0003557
Low chest circumference
Frequent (30-79%)HP:0000774
Overlapping fingers
Frequent (30-79%)HP:0010557
Small for gestational age infant
Frequent (30-79%)HP:0001511
Small thymus
Frequent (30-79%)HP:0000778
Spasmodic torticollis
Frequent (30-79%)HP:0000473
Stiff neck
Frequent (30-79%)HP:0025258
Thoracic scoliosis
Frequent (30-79%)HP:0002943
Thumb-in-palm pattern
Frequent (30-79%)HP:0001181
VSD
Frequent (30-79%)HP:0001629
Bowed femura
Occasional (5-29%)HP:0002980
Decreased amniotic fluid index
Occasional (5-29%)HP:0001562
Dextroposition of aorta
Occasional (5-29%)HP:0002623
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Early severe foetal akinesia sequence
Occasional (5-29%)HP:0001989
High arched palate
Occasional (5-29%)HP:0000218
Hooked nose
Occasional (5-29%)HP:0000444
Hydrops fetalis
Occasional (5-29%)HP:0001789
Lingual hyperplasia
Occasional (5-29%)HP:0000158
Low-set ears
Occasional (5-29%)HP:0000369
Narrow palate
Occasional (5-29%)HP:0000189
Omphalocoele
Occasional (5-29%)HP:0001539
Quick Facts
- SNOMED CT
- 1179299005
- UMLS CUI
- C5568141
- Fully Specified Name
- NIMA related kinase 9 lethal skeletal dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.