| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 47
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000276 | Long face | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000601 | Hypotelorism | Frequent (79-30%) |
| HP:0000716 | Depressivity | Frequent (79-30%) |
| HP:0000739 | Anxiety | Frequent (79-30%) |
| HP:0000750 | Delayed speech and language development | Frequent (79-30%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0000786 | Primary amenorrhea | Frequent (79-30%) |
| HP:0000836 | Hyperthyroidism | Frequent (79-30%) |
| HP:0000870 | Prolactin excess | Frequent (79-30%) |
| HP:0001256 | Intellectual disability, mild | Frequent (79-30%) |
| HP:0001265 | Hyporeflexia | Frequent (79-30%) |
| HP:0001270 | Motor delay | Frequent (79-30%) |
| HP:0001290 | Generalized hypotonia | Frequent (79-30%) |
| HP:0001310 | Dysmetria | Frequent (79-30%) |
| HP:0001321 | Cerebellar hypoplasia | Frequent (79-30%) |
| HP:0001337 | Tremor | Frequent (79-30%) |
| HP:0001510 | Growth delay | Frequent (79-30%) |
| HP:0001761 | Pes cavus | Frequent (79-30%) |
| HP:0002073 | Progressive cerebellar ataxia | Frequent (79-30%) |
| HP:0002075 | Dysdiadochokinesis | Frequent (79-30%) |
| HP:0002355 | Difficulty walking | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002750 | Delayed skeletal maturation | Frequent (79-30%) |
| HP:0002761 | Generalized joint laxity | Frequent (79-30%) |
| HP:0003326 | Myalgia | Frequent (79-30%) |
| HP:0003391 | Gowers sign | Frequent (79-30%) |
| HP:0003458 | EMG: myopathic abnormalities | Frequent (79-30%) |
| HP:0003474 | Sensory impairment | Frequent (79-30%) |
| HP:0003557 | Increased variability in muscle fiber diameter | Frequent (79-30%) |
| HP:0003701 | Proximal muscle weakness | Frequent (79-30%) |
| HP:0003737 | Mitochondrial myopathy | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0008180 | Mildly elevated creatine kinase | Frequent (79-30%) |
| HP:0009051 | Increased muscle glycogen content | Frequent (79-30%) |
| HP:0012032 | Lipoma | Frequent (79-30%) |
| HP:0012240 | Increased intramyocellular lipid droplets | Frequent (79-30%) |
| HP:0030319 | Weakness of facial musculature | Frequent (79-30%) |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | Frequent (79-30%) |
| HP:0100874 | Thick hair | Frequent (79-30%) |
| HP:0100887 | Abnormality of globe size | Frequent (79-30%) |
| HP:0000729 | Autistic behavior | Occasional (29-5%) |
| HP:0100753 | Schizophrenia | Occasional (29-5%) |
| HP:0000543 | Optic disc pallor | Very rare (4-1%) |
| HP:0000580 | Pigmentary retinopathy | Very rare (4-1%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|