Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 40
HPO ID | Term | Frequency |
---|---|---|
HP:0001250 | Seizures | Very frequent (99-80%) |
HP:0001263 | Global developmental delay | Very frequent (99-80%) |
HP:0007020 | Progressive spastic paraplegia | Very frequent (99-80%) |
HP:0000316 | Hypertelorism | Frequent (79-30%) |
HP:0000407 | Sensorineural hearing impairment | Frequent (79-30%) |
HP:0000490 | Deeply set eye | Frequent (79-30%) |
HP:0000545 | Myopia | Frequent (79-30%) |
HP:0000556 | Retinal dystrophy | Frequent (79-30%) |
HP:0000750 | Delayed speech and language development | Frequent (79-30%) |
HP:0001249 | Intellectual disability | Frequent (79-30%) |
HP:0001251 | Ataxia | Frequent (79-30%) |
HP:0001257 | Spasticity | Frequent (79-30%) |
HP:0001260 | Dysarthria | Frequent (79-30%) |
HP:0001332 | Dystonia | Frequent (79-30%) |
HP:0002061 | Lower limb spasticity | Frequent (79-30%) |
HP:0002123 | Generalized myoclonic seizures | Frequent (79-30%) |
HP:0002317 | Unsteady gait | Frequent (79-30%) |
HP:0002355 | Difficulty walking | Frequent (79-30%) |
HP:0002515 | Waddling gait | Frequent (79-30%) |
HP:0002650 | Scoliosis | Frequent (79-30%) |
HP:0002714 | Downturned corners of mouth | Frequent (79-30%) |
HP:0002808 | Kyphosis | Frequent (79-30%) |
HP:0002827 | Hip dislocation | Frequent (79-30%) |
HP:0008936 | Muscular hypotonia of the trunk | Frequent (79-30%) |
HP:0025313 | Exophoria | Frequent (79-30%) |
HP:0031087 | Absent pubertal growth spurt | Frequent (79-30%) |
HP:0000020 | Urinary incontinence | Occasional (29-5%) |
HP:0000252 | Microcephaly | Occasional (29-5%) |
HP:0001513 | Obesity | Occasional (29-5%) |
HP:0002059 | Cerebral atrophy | Occasional (29-5%) |
HP:0002069 | Generalized tonic-clonic seizures | Occasional (29-5%) |
HP:0002079 | Hypoplasia of the corpus callosum | Occasional (29-5%) |
HP:0004322 | Short stature | Occasional (29-5%) |
HP:0008373 | Puberty and gonadal disorders | Occasional (29-5%) |
HP:0010219 | Structural foot deformity | Occasional (29-5%) |
HP:0011166 | Focal myoclonic seizures | Occasional (29-5%) |
HP:0011401 | Delayed peripheral myelination | Occasional (29-5%) |
HP:0012762 | Cerebral white matter atrophy | Occasional (29-5%) |
HP:0001437 | Abnormality of the musculature of the lower limbs | Excluded (0%) |
HP:0002380 | Fasciculations | Excluded (0%) |
Total: 0
HPO ID | Term | # of case reports |
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