| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 56
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001257 | Spasticity | Very frequent (99-80%) |
| HP:0001324 | Muscle weakness | Very frequent (99-80%) |
| HP:0001510 | Growth delay | Very frequent (99-80%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Very frequent (99-80%) |
| HP:0002120 | Cerebral cortical atrophy | Very frequent (99-80%) |
| HP:0003202 | Skeletal muscle atrophy | Very frequent (99-80%) |
| HP:0000648 | Optic atrophy | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001272 | Cerebellar atrophy | Frequent (79-30%) |
| HP:0001344 | Absent speech | Frequent (79-30%) |
| HP:0002069 | Generalized tonic-clonic seizures | Frequent (79-30%) |
| HP:0002187 | Intellectual disability, profound | Frequent (79-30%) |
| HP:0002191 | Progressive spasticity | Frequent (79-30%) |
| HP:0002445 | Tetraplegia | Frequent (79-30%) |
| HP:0002465 | Poor speech | Frequent (79-30%) |
| HP:0002878 | Respiratory failure | Frequent (79-30%) |
| HP:0005484 | Postnatal microcephaly | Frequent (79-30%) |
| HP:0006808 | Cerebral hypomyelination | Frequent (79-30%) |
| HP:0007179 | Absent smooth pursuit | Frequent (79-30%) |
| HP:0008947 | Infantile muscular hypotonia | Frequent (79-30%) |
| HP:0010818 | Generalized tonic seizures | Frequent (79-30%) |
| HP:0011968 | Feeding difficulties | Frequent (79-30%) |
| HP:0000020 | Urinary incontinence | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000582 | Upslanted palpebral fissure | Occasional (29-5%) |
| HP:0000687 | Widely spaced teeth | Occasional (29-5%) |
| HP:0001251 | Ataxia | Occasional (29-5%) |
| HP:0001284 | Areflexia | Occasional (29-5%) |
| HP:0001357 | Plagiocephaly | Occasional (29-5%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0002015 | Dysphagia | Occasional (29-5%) |
| HP:0002342 | Intellectual disability, moderate | Occasional (29-5%) |
| HP:0002376 | Developmental regression | Occasional (29-5%) |
| HP:0002380 | Fasciculations | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Occasional (29-5%) |
| HP:0003084 | Fractures of the long bones | Occasional (29-5%) |
| HP:0003236 | Elevated serum creatine kinase | Occasional (29-5%) |
| HP:0004887 | Respiratory failure requiring assisted ventilation | Occasional (29-5%) |
| HP:0011451 | Congenital microcephaly | Occasional (29-5%) |
| HP:0012450 | Chronic constipation | Occasional (29-5%) |
| HP:0045075 | Sparse eyebrow | Occasional (29-5%) |
| HP:0000011 | Neurogenic bladder | Very rare (4-1%) |
| HP:0000400 | Macrotia | Very rare (4-1%) |
| HP:0000733 | Stereotypy | Very rare (4-1%) |
| HP:0000767 | Pectus excavatum | Very rare (4-1%) |
| HP:0000768 | Pectus carinatum | Very rare (4-1%) |
| HP:0001007 | Hirsutism | Very rare (4-1%) |
| HP:0001332 | Dystonia | Very rare (4-1%) |
| HP:0001374 | Congenital hip dislocation | Very rare (4-1%) |
| HP:0002373 | Febrile seizures | Very rare (4-1%) |
| HP:0002524 | Cataplexy | Very rare (4-1%) |
| HP:0002607 | Bowel incontinence | Very rare (4-1%) |
| HP:0006532 | Recurrent pneumonia | Very rare (4-1%) |
| HP:0007002 | Motor axonal neuropathy | Very rare (4-1%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|