| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 73
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001288 | Gait disturbance | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0003086 | Acromesomelia | Very frequent (99-80%) |
| HP:0011968 | Feeding difficulties | Very frequent (99-80%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000708 | Behavioral abnormality | Frequent (79-30%) |
| HP:0000729 | Autistic behavior | Frequent (79-30%) |
| HP:0000733 | Stereotypy | Frequent (79-30%) |
| HP:0000739 | Anxiety | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001518 | Small for gestational age | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002373 | Febrile seizures | Frequent (79-30%) |
| HP:0002465 | Poor speech | Frequent (79-30%) |
| HP:0011451 | Congenital microcephaly | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000341 | Narrow forehead | Occasional (29-5%) |
| HP:0000400 | Macrotia | Occasional (29-5%) |
| HP:0000411 | Protruding ear | Occasional (29-5%) |
| HP:0000426 | Prominent nasal bridge | Occasional (29-5%) |
| HP:0000483 | Astigmatism | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000490 | Deeply set eye | Occasional (29-5%) |
| HP:0000540 | Hypermetropia | Occasional (29-5%) |
| HP:0000543 | Optic disc pallor | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000577 | Exotropia | Occasional (29-5%) |
| HP:0000646 | Amblyopia | Occasional (29-5%) |
| HP:0000752 | Hyperactivity | Occasional (29-5%) |
| HP:0001166 | Arachnodactyly | Occasional (29-5%) |
| HP:0001659 | Aortic regurgitation | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0002013 | Vomiting | Occasional (29-5%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (29-5%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0002120 | Cerebral cortical atrophy | Occasional (29-5%) |
| HP:0002365 | Hypoplasia of the brainstem | Occasional (29-5%) |
| HP:0002719 | Recurrent infections | Occasional (29-5%) |
| HP:0002828 | Multiple joint contractures | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0007957 | Corneal opacity | Occasional (29-5%) |
| HP:0010442 | Polydactyly | Occasional (29-5%) |
| HP:0010627 | Anterior pituitary hypoplasia | Occasional (29-5%) |
| HP:0010864 | Intellectual disability, severe | Occasional (29-5%) |
| HP:0011832 | Narrow nasal tip | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Very rare (4-1%) |
| HP:0000054 | Micropenis | Very rare (4-1%) |
| HP:0000107 | Renal cyst | Very rare (4-1%) |
| HP:0000122 | Unilateral renal agenesis | Very rare (4-1%) |
| HP:0000125 | Pelvic kidney | Very rare (4-1%) |
| HP:0000126 | Hydronephrosis | Very rare (4-1%) |
| HP:0000767 | Pectus excavatum | Very rare (4-1%) |
| HP:0000964 | Eczema | Very rare (4-1%) |
| HP:0001562 | Oligohydramnios | Very rare (4-1%) |
| HP:0001629 | Ventricular septal defect | Very rare (4-1%) |
| HP:0001643 | Patent ductus arteriosus | Very rare (4-1%) |
| HP:0001650 | Aortic valve stenosis | Very rare (4-1%) |
| HP:0001822 | Hallux valgus | Very rare (4-1%) |
| HP:0002021 | Pyloric stenosis | Very rare (4-1%) |
| HP:0002247 | Duodenal atresia | Very rare (4-1%) |
| HP:0002280 | Enlarged cisterna magna | Very rare (4-1%) |
| HP:0002650 | Scoliosis | Very rare (4-1%) |
| HP:0002808 | Kyphosis | Very rare (4-1%) |
| HP:0003187 | Breast hypoplasia | Very rare (4-1%) |
| HP:0003319 | Abnormality of the cervical spine | Very rare (4-1%) |
| HP:0004322 | Short stature | Very rare (4-1%) |
| HP:0010219 | Structural foot deformity | Very rare (4-1%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|