| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 50
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000708 | Behavioral abnormality | Frequent (79-30%) |
| HP:0000733 | Stereotypy | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001270 | Motor delay | Frequent (79-30%) |
| HP:0001344 | Absent speech | Frequent (79-30%) |
| HP:0001627 | Abnormal heart morphology | Frequent (79-30%) |
| HP:0002465 | Poor speech | Frequent (79-30%) |
| HP:0008872 | Feeding difficulties in infancy | Frequent (79-30%) |
| HP:0008947 | Infantile muscular hypotonia | Frequent (79-30%) |
| HP:0011968 | Feeding difficulties | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000194 | Open mouth | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000363 | Abnormality of earlobe | Occasional (29-5%) |
| HP:0000403 | Recurrent otitis media | Occasional (29-5%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
| HP:0000426 | Prominent nasal bridge | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000819 | Diabetes mellitus | Occasional (29-5%) |
| HP:0000964 | Eczema | Occasional (29-5%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (29-5%) |
| HP:0001357 | Plagiocephaly | Occasional (29-5%) |
| HP:0001388 | Joint laxity | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001647 | Bicuspid aortic valve | Occasional (29-5%) |
| HP:0001655 | Patent foramen ovale | Occasional (29-5%) |
| HP:0001999 | Abnormal facial shape | Occasional (29-5%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002126 | Polymicrogyria | Occasional (29-5%) |
| HP:0002280 | Enlarged cisterna magna | Occasional (29-5%) |
| HP:0002365 | Hypoplasia of the brainstem | Occasional (29-5%) |
| HP:0002518 | Abnormality of the periventricular white matter | Occasional (29-5%) |
| HP:0002553 | Highly arched eyebrow | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002786 | Tracheobronchomalacia | Occasional (29-5%) |
| HP:0003086 | Acromesomelia | Occasional (29-5%) |
| HP:0006532 | Recurrent pneumonia | Occasional (29-5%) |
| HP:0007033 | Cerebellar dysplasia | Occasional (29-5%) |
| HP:0008527 | Congenital sensorineural hearing impairment | Occasional (29-5%) |
| HP:0009237 | Short 5th finger | Occasional (29-5%) |
| HP:0009765 | Low hanging columella | Occasional (29-5%) |
| HP:0030515 | Moderately reduced visual acuity | Occasional (29-5%) |
| HP:0200007 | Abnormal size of the palpebral fissures | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|