| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 105
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001249 | Intellectual disability | Obligate (100%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0012443 | Abnormality of brain morphology | Very frequent (99-80%) |
| HP:0000119 | Abnormality of the genitourinary system | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000540 | Hypermetropia | Frequent (79-30%) |
| HP:0000729 | Autistic behavior | Frequent (79-30%) |
| HP:0001382 | Joint hypermobility | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001531 | Failure to thrive in infancy | Frequent (79-30%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002197 | Generalized-onset seizure | Frequent (79-30%) |
| HP:0002538 | Abnormality of the cerebral cortex | Frequent (79-30%) |
| HP:0003508 | Proportionate short stature | Frequent (79-30%) |
| HP:0008872 | Feeding difficulties in infancy | Frequent (79-30%) |
| HP:0008947 | Infantile muscular hypotonia | Frequent (79-30%) |
| HP:0010864 | Intellectual disability, severe | Frequent (79-30%) |
| HP:0000085 | Horseshoe kidney | Occasional (29-5%) |
| HP:0000122 | Unilateral renal agenesis | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000193 | Bifid uvula | Occasional (29-5%) |
| HP:0000233 | Thin vermilion border | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000293 | Full cheeks | Occasional (29-5%) |
| HP:0000319 | Smooth philtrum | Occasional (29-5%) |
| HP:0000322 | Short philtrum | Occasional (29-5%) |
| HP:0000324 | Facial asymmetry | Occasional (29-5%) |
| HP:0000327 | Hypoplasia of the maxilla | Occasional (29-5%) |
| HP:0000341 | Narrow forehead | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000411 | Protruding ear | Occasional (29-5%) |
| HP:0000431 | Wide nasal bridge | Occasional (29-5%) |
| HP:0000490 | Deeply set eye | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000529 | Progressive visual loss | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000565 | Esotropia | Occasional (29-5%) |
| HP:0000577 | Exotropia | Occasional (29-5%) |
| HP:0000592 | Blue sclerae | Occasional (29-5%) |
| HP:0000609 | Optic nerve hypoplasia | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000891 | Cervical ribs | Occasional (29-5%) |
| HP:0000902 | Rib fusion | Occasional (29-5%) |
| HP:0001027 | Soft, doughy skin | Occasional (29-5%) |
| HP:0001166 | Arachnodactyly | Occasional (29-5%) |
| HP:0001257 | Spasticity | Occasional (29-5%) |
| HP:0001627 | Abnormal heart morphology | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002015 | Dysphagia | Occasional (29-5%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (29-5%) |
| HP:0002028 | Chronic diarrhea | Occasional (29-5%) |
| HP:0002097 | Emphysema | Occasional (29-5%) |
| HP:0002121 | Absence seizure | Occasional (29-5%) |
| HP:0002126 | Polymicrogyria | Occasional (29-5%) |
| HP:0002140 | Ischemic stroke | Occasional (29-5%) |
| HP:0002212 | Curly hair | Occasional (29-5%) |
| HP:0002283 | Global brain atrophy | Occasional (29-5%) |
| HP:0002308 | Arnold-Chiari malformation | Occasional (29-5%) |
| HP:0002326 | Transient ischemic attack | Occasional (29-5%) |
| HP:0002376 | Developmental regression | Occasional (29-5%) |
| HP:0002500 | Abnormality of the cerebral white matter | Occasional (29-5%) |
| HP:0002578 | Gastroparesis | Occasional (29-5%) |
| HP:0002579 | Gastrointestinal dysmotility | Occasional (29-5%) |
| HP:0002714 | Downturned corners of mouth | Occasional (29-5%) |
| HP:0002719 | Recurrent infections | Occasional (29-5%) |
| HP:0002751 | Kyphoscoliosis | Occasional (29-5%) |
| HP:0002878 | Respiratory failure | Occasional (29-5%) |
| HP:0002937 | Hemivertebrae | Occasional (29-5%) |
| HP:0002938 | Lumbar hyperlordosis | Occasional (29-5%) |
| HP:0003100 | Slender long bone | Occasional (29-5%) |
| HP:0003196 | Short nose | Occasional (29-5%) |
| HP:0004315 | Decreased circulating IgG level | Occasional (29-5%) |
| HP:0004433 | Secretory IgA deficiency | Occasional (29-5%) |
| HP:0004442 | Sagittal craniosynostosis | Occasional (29-5%) |
| HP:0004482 | Relative macrocephaly | Occasional (29-5%) |
| HP:0005280 | Depressed nasal bridge | Occasional (29-5%) |
| HP:0005639 | Hyperextensible hand joints | Occasional (29-5%) |
| HP:0006956 | Dilation of lateral ventricles | Occasional (29-5%) |
| HP:0006970 | Periventricular leukomalacia | Occasional (29-5%) |
| HP:0006989 | Dysplastic corpus callosum | Occasional (29-5%) |
| HP:0007100 | Progressive ventriculomegaly | Occasional (29-5%) |
| HP:0007933 | Broad lateral eyebrow | Occasional (29-5%) |
| HP:0008765 | Auditory hallucinations | Occasional (29-5%) |
| HP:0009777 | Absent thumb | Occasional (29-5%) |
| HP:0009879 | Simplified gyral pattern | Occasional (29-5%) |
| HP:0010485 | Hyperextensibility at elbow | Occasional (29-5%) |
| HP:0011220 | Prominent forehead | Occasional (29-5%) |
| HP:0011330 | Metopic synostosis | Occasional (29-5%) |
| HP:0011467 | Absent gallbladder | Occasional (29-5%) |
| HP:0011471 | Gastrostomy tube feeding in infancy | Occasional (29-5%) |
| HP:0011648 | Patent ductus arteriosus after birth at term | Occasional (29-5%) |
| HP:0011819 | Submucous cleft soft palate | Occasional (29-5%) |
| HP:0012582 | Bilateral renal dysplasia | Occasional (29-5%) |
| HP:0025116 | Fetal distress | Occasional (29-5%) |
| HP:0030707 | Unilateral lung agenesis | Occasional (29-5%) |
| HP:0045075 | Sparse eyebrow | Occasional (29-5%) |
| HP:0100307 | Cerebellar hemisphere hypoplasia | Occasional (29-5%) |
| HP:0100702 | Arachnoid cyst | Occasional (29-5%) |
| HP:0100704 | Cerebral visual impairment | Occasional (29-5%) |
| HP:0430021 | Abnormal common carotid artery morphology | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|