Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 33
HPO ID | Term | Frequency |
---|---|---|
HP:0000194 | Open mouth | Frequent (79-30%) |
HP:0000268 | Dolichocephaly | Frequent (79-30%) |
HP:0000289 | Broad philtrum | Frequent (79-30%) |
HP:0000322 | Short philtrum | Frequent (79-30%) |
HP:0000338 | Hypomimic face | Frequent (79-30%) |
HP:0000341 | Narrow forehead | Frequent (79-30%) |
HP:0000347 | Micrognathia | Frequent (79-30%) |
HP:0000411 | Protruding ear | Frequent (79-30%) |
HP:0000446 | Narrow nasal bridge | Frequent (79-30%) |
HP:0000455 | Broad nasal tip | Frequent (79-30%) |
HP:0000752 | Hyperactivity | Frequent (79-30%) |
HP:0000960 | Sacral dimple | Frequent (79-30%) |
HP:0001263 | Global developmental delay | Frequent (79-30%) |
HP:0001290 | Generalized hypotonia | Frequent (79-30%) |
HP:0001319 | Neonatal hypotonia | Frequent (79-30%) |
HP:0001618 | Dysphonia | Frequent (79-30%) |
HP:0002015 | Dysphagia | Frequent (79-30%) |
HP:0002553 | Highly arched eyebrow | Frequent (79-30%) |
HP:0002705 | High, narrow palate | Frequent (79-30%) |
HP:0010804 | Tented upper lip vermilion | Frequent (79-30%) |
HP:0011081 | Incisor macrodontia | Frequent (79-30%) |
HP:0011968 | Feeding difficulties | Frequent (79-30%) |
HP:0012471 | Thick vermilion border | Frequent (79-30%) |
HP:0030197 | Fatigable weakness of skeletal muscles | Frequent (79-30%) |
HP:0030200 | Fatiguable weakness of proximal limb muscles | Frequent (79-30%) |
HP:0040288 | Nasogastric tube feeding | Frequent (79-30%) |
HP:0001284 | Areflexia | Occasional (29-5%) |
HP:0001308 | Tongue fasciculations | Occasional (29-5%) |
HP:0005060 | Limited elbow flexion/extension | Occasional (29-5%) |
HP:0005879 | Congenital finger flexion contractures | Occasional (29-5%) |
HP:0007002 | Motor axonal neuropathy | Occasional (29-5%) |
HP:0007269 | Spinal muscular atrophy | Occasional (29-5%) |
HP:0008366 | Contractures involving the joints of the feet | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|