| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 90
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000219 | Thin upper lip vermilion | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000280 | Coarse facial features | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000303 | Mandibular prognathia | Occasional (29-5%) |
| HP:0000308 | Microretrognathia | Occasional (29-5%) |
| HP:0000311 | Round face | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000322 | Short philtrum | Occasional (29-5%) |
| HP:0000340 | Sloping forehead | Occasional (29-5%) |
| HP:0000348 | High forehead | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000426 | Prominent nasal bridge | Occasional (29-5%) |
| HP:0000430 | Underdeveloped nasal alae | Occasional (29-5%) |
| HP:0000455 | Broad nasal tip | Occasional (29-5%) |
| HP:0000483 | Astigmatism | Occasional (29-5%) |
| HP:0000490 | Deeply set eye | Occasional (29-5%) |
| HP:0000540 | Hypermetropia | Occasional (29-5%) |
| HP:0000577 | Exotropia | Occasional (29-5%) |
| HP:0000592 | Blue sclerae | Occasional (29-5%) |
| HP:0000723 | Restrictive behavior | Occasional (29-5%) |
| HP:0000752 | Hyperactivity | Occasional (29-5%) |
| HP:0000851 | Congenital hypothyroidism | Occasional (29-5%) |
| HP:0000883 | Thin ribs | Occasional (29-5%) |
| HP:0000938 | Osteopenia | Occasional (29-5%) |
| HP:0000963 | Thin skin | Occasional (29-5%) |
| HP:0001177 | Preaxial hand polydactyly | Occasional (29-5%) |
| HP:0001181 | Adducted thumb | Occasional (29-5%) |
| HP:0001182 | Tapered finger | Occasional (29-5%) |
| HP:0001195 | Single umbilical artery | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001265 | Hyporeflexia | Occasional (29-5%) |
| HP:0001276 | Hypertonia | Occasional (29-5%) |
| HP:0001290 | Generalized hypotonia | Occasional (29-5%) |
| HP:0001385 | Hip dysplasia | Occasional (29-5%) |
| HP:0001513 | Obesity | Occasional (29-5%) |
| HP:0001530 | Mild postnatal growth retardation | Occasional (29-5%) |
| HP:0001562 | Oligohydramnios | Occasional (29-5%) |
| HP:0001627 | Abnormal heart morphology | Occasional (29-5%) |
| HP:0001639 | Hypertrophic cardiomyopathy | Occasional (29-5%) |
| HP:0001655 | Patent foramen ovale | Occasional (29-5%) |
| HP:0001775 | Tarsal osteovalgus | Occasional (29-5%) |
| HP:0001845 | Overlapping toe | Occasional (29-5%) |
| HP:0002002 | Deep philtrum | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002120 | Cerebral cortical atrophy | Occasional (29-5%) |
| HP:0002188 | Delayed CNS myelination | Occasional (29-5%) |
| HP:0002283 | Global brain atrophy | Occasional (29-5%) |
| HP:0002509 | Limb hypertonia | Occasional (29-5%) |
| HP:0002553 | Highly arched eyebrow | Occasional (29-5%) |
| HP:0002558 | Supernumerary nipple | Occasional (29-5%) |
| HP:0002996 | Limited elbow movement | Occasional (29-5%) |
| HP:0003100 | Slender long bone | Occasional (29-5%) |
| HP:0003693 | Distal amyotrophy | Occasional (29-5%) |
| HP:0003717 | Minimal subcutaneous fat | Occasional (29-5%) |
| HP:0004220 | Short middle phalanx of the 5th finger | Occasional (29-5%) |
| HP:0005257 | Thoracic hypoplasia | Occasional (29-5%) |
| HP:0005289 | Abnormality of the nasolabial region | Occasional (29-5%) |
| HP:0005338 | Sparse lateral eyebrow | Occasional (29-5%) |
| HP:0005458 | Premature closure of fontanelles | Occasional (29-5%) |
| HP:0005603 | Numerous congenital melanocytic nevi | Occasional (29-5%) |
| HP:0005617 | Bilateral camptodactyly | Occasional (29-5%) |
| HP:0005872 | Brachytelomesophalangy | Occasional (29-5%) |
| HP:0006863 | Severe expressive language delay | Occasional (29-5%) |
| HP:0006970 | Periventricular leukomalacia | Occasional (29-5%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Occasional (29-5%) |
| HP:0007328 | Impaired pain sensation | Occasional (29-5%) |
| HP:0007429 | Few cafe-au-lait spots | Occasional (29-5%) |
| HP:0007722 | Retinal pigment epithelial atrophy | Occasional (29-5%) |
| HP:0008070 | Sparse hair | Occasional (29-5%) |
| HP:0008236 | Isosexual precocious puberty | Occasional (29-5%) |
| HP:0008872 | Feeding difficulties in infancy | Occasional (29-5%) |
| HP:0008883 | Mild intrauterine growth retardation | Occasional (29-5%) |
| HP:0009062 | Infantile axial hypotonia | Occasional (29-5%) |
| HP:0011342 | Mild global developmental delay | Occasional (29-5%) |
| HP:0011344 | Severe global developmental delay | Occasional (29-5%) |
| HP:0011800 | Midface retrusion | Occasional (29-5%) |
| HP:0011819 | Submucous cleft soft palate | Occasional (29-5%) |
| HP:0011822 | Broad chin | Occasional (29-5%) |
| HP:0012368 | Flat face | Occasional (29-5%) |
| HP:0012434 | Delayed social development | Occasional (29-5%) |
| HP:0012810 | Wide nasal base | Occasional (29-5%) |
| HP:0031936 | Delayed ability to walk | Occasional (29-5%) |
| HP:0040024 | Clinodactyly of the 3rd finger | Occasional (29-5%) |
| HP:0100258 | Preaxial polydactyly | Occasional (29-5%) |
| HP:0100807 | Long fingers | Occasional (29-5%) |
| HP:0410005 | Cleft hard palate | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|