| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 53
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000219 | Thin upper lip vermilion | Frequent (79-30%) |
| HP:0000248 | Brachycephaly | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000276 | Long face | Frequent (79-30%) |
| HP:0000278 | Retrognathia | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000400 | Macrotia | Frequent (79-30%) |
| HP:0000426 | Prominent nasal bridge | Frequent (79-30%) |
| HP:0000445 | Wide nose | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000527 | Long eyelashes | Frequent (79-30%) |
| HP:0000637 | Long palpebral fissure | Frequent (79-30%) |
| HP:0000960 | Sacral dimple | Frequent (79-30%) |
| HP:0001182 | Tapered finger | Frequent (79-30%) |
| HP:0001187 | Hyperextensibility of the finger joints | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001290 | Generalized hypotonia | Frequent (79-30%) |
| HP:0001344 | Absent speech | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001762 | Talipes equinovarus | Frequent (79-30%) |
| HP:0001845 | Overlapping toe | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002540 | Inability to walk | Frequent (79-30%) |
| HP:0002553 | Highly arched eyebrow | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0003121 | Limb joint contracture | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0004325 | Decreased body weight | Frequent (79-30%) |
| HP:0005469 | Flat occiput | Frequent (79-30%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0011304 | Broad thumb | Frequent (79-30%) |
| HP:0011968 | Feeding difficulties | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000729 | Autistic behavior | Occasional (29-5%) |
| HP:0001166 | Arachnodactyly | Occasional (29-5%) |
| HP:0001251 | Ataxia | Occasional (29-5%) |
| HP:0001257 | Spasticity | Occasional (29-5%) |
| HP:0001276 | Hypertonia | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0002120 | Cerebral cortical atrophy | Occasional (29-5%) |
| HP:0002510 | Spastic tetraplegia | Occasional (29-5%) |
| HP:0008772 | Aplasia/Hypoplasia of the external ear | Occasional (29-5%) |
| HP:0012450 | Chronic constipation | Occasional (29-5%) |
| HP:0100021 | Cerebral palsy | Very rare (4-1%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|