| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (17.5%) |
25888334 (4374407) |
Sudden cardiac arrest in a child with nemaline myopathy. Marseglia L, D'Angelo G, Manti S, Salpietro V, Arrigo T, Cavallari V, Gitto E. Ital J Pediatr. 2015;41:20. |
| Muscle weakness | ||
| ACTA1 TNNT1 TPM2 | ||
| Brain Child Disease Progression Fatal Outcome Homo sapiens Hypoxia-Ischemia, Brain Male Myopathies, Nemaline Sudden Cardiac Death X-Ray Computed Tomography |
Total: 39
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0001265 | Hyporeflexia | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0001319 | Neonatal hypotonia | Frequent (79-30%) |
| HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
| HP:0003325 | Limb-girdle muscle weakness | Frequent (79-30%) |
| HP:0003327 | Axial muscle weakness | Frequent (79-30%) |
| HP:0003557 | Increased variability in muscle fiber diameter | Frequent (79-30%) |
| HP:0003722 | Neck flexor weakness | Frequent (79-30%) |
| HP:0003803 | Type 1 muscle fiber predominance | Frequent (79-30%) |
| HP:0009027 | Foot dorsiflexor weakness | Frequent (79-30%) |
| HP:0010628 | Facial palsy | Frequent (79-30%) |
| HP:0030198 | Fatigable weakness of distal limb muscles | Frequent (79-30%) |
| HP:0000275 | Narrow face | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000470 | Short neck | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0000767 | Pectus excavatum | Occasional (29-5%) |
| HP:0000774 | Narrow chest | Occasional (29-5%) |
| HP:0001349 | Facial diplegia | Occasional (29-5%) |
| HP:0001371 | Flexion contracture | Occasional (29-5%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0002375 | Hypokinesia | Occasional (29-5%) |
| HP:0002515 | Waddling gait | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Occasional (29-5%) |
| HP:0002827 | Hip dislocation | Occasional (29-5%) |
| HP:0002857 | Genu valgum | Occasional (29-5%) |
| HP:0002877 | Nocturnal hypoventilation | Occasional (29-5%) |
| HP:0002970 | Genu varum | Occasional (29-5%) |
| HP:0003198 | Myopathy | Occasional (29-5%) |
| HP:0003236 | Elevated serum creatine kinase | Occasional (29-5%) |
| HP:0003306 | Spinal rigidity | Occasional (29-5%) |
| HP:0003307 | Hyperlordosis | Occasional (29-5%) |
| HP:0003798 | Nemaline bodies | Occasional (29-5%) |
| HP:0011968 | Feeding difficulties | Occasional (29-5%) |
| HP:0030196 | Fatigable weakness of respiratory muscles | Occasional (29-5%) |
| HP:0030200 | Fatiguable weakness of proximal limb muscles | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Very rare (4-1%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|