| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 73
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000657 | Oculomotor apraxia | Frequent (79-30%) |
| HP:0001290 | Generalized hypotonia | Frequent (79-30%) |
| HP:0001321 | Cerebellar hypoplasia | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002419 | Molar tooth sign on MRI | Frequent (79-30%) |
| HP:0002789 | Tachypnea | Frequent (79-30%) |
| HP:0004719 | Hyperechogenic kidneys | Frequent (79-30%) |
| HP:0011933 | Elongated superior cerebellar peduncle | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000083 | Renal insufficiency | Occasional (29-5%) |
| HP:0000110 | Renal dysplasia | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Occasional (29-5%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000396 | Overfolded helix | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000556 | Retinal dystrophy | Occasional (29-5%) |
| HP:0000572 | Visual loss | Occasional (29-5%) |
| HP:0000773 | Short ribs | Occasional (29-5%) |
| HP:0000803 | Renal cortical cysts | Occasional (29-5%) |
| HP:0000890 | Long clavicles | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001273 | Abnormal corpus callosum morphology | Occasional (29-5%) |
| HP:0001305 | Dandy-Walker malformation | Occasional (29-5%) |
| HP:0001317 | Abnormal cerebellum morphology | Occasional (29-5%) |
| HP:0001320 | Cerebellar vermis hypoplasia | Occasional (29-5%) |
| HP:0001331 | Absent septum pellucidum | Occasional (29-5%) |
| HP:0001344 | Absent speech | Occasional (29-5%) |
| HP:0001591 | Bell-shaped thorax | Occasional (29-5%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (29-5%) |
| HP:0002085 | Occipital encephalocele | Occasional (29-5%) |
| HP:0002100 | Recurrent aspiration pneumonia | Occasional (29-5%) |
| HP:0002104 | Apnea | Occasional (29-5%) |
| HP:0002134 | Abnormality of the basal ganglia | Occasional (29-5%) |
| HP:0002195 | Dysgenesis of the cerebellar vermis | Occasional (29-5%) |
| HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
| HP:0002280 | Enlarged cisterna magna | Occasional (29-5%) |
| HP:0002435 | Meningocele | Occasional (29-5%) |
| HP:0002516 | Increased intracranial pressure | Occasional (29-5%) |
| HP:0002558 | Supernumerary nipple | Occasional (29-5%) |
| HP:0002910 | Elevated hepatic transaminase | Occasional (29-5%) |
| HP:0003170 | Abnormality of the acetabulum | Occasional (29-5%) |
| HP:0003411 | Proximal femoral metaphyseal irregularity | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0004629 | Small cervical vertebral bodies | Occasional (29-5%) |
| HP:0004991 | Rhizomelic arm shortening | Occasional (29-5%) |
| HP:0005257 | Thoracic hypoplasia | Occasional (29-5%) |
| HP:0005280 | Depressed nasal bridge | Occasional (29-5%) |
| HP:0005989 | Redundant neck skin | Occasional (29-5%) |
| HP:0006528 | Chronic lung disease | Occasional (29-5%) |
| HP:0006610 | Wide intermamillary distance | Occasional (29-5%) |
| HP:0006668 | Twelfth rib hypoplasia | Occasional (29-5%) |
| HP:0006711 | Aplasia/Hypoplasia involving bones of the thorax | Occasional (29-5%) |
| HP:0006956 | Dilation of lateral ventricles | Occasional (29-5%) |
| HP:0007082 | Dilated third ventricle | Occasional (29-5%) |
| HP:0008445 | Cervical spinal canal stenosis | Occasional (29-5%) |
| HP:0008797 | Early ossification of capital femoral epiphyses | Occasional (29-5%) |
| HP:0009921 | Duane anomaly | Occasional (29-5%) |
| HP:0010013 | Abnormality of the 5th metacarpal | Occasional (29-5%) |
| HP:0010579 | Cone-shaped epiphysis | Occasional (29-5%) |
| HP:0011927 | Short digit | Occasional (29-5%) |
| HP:0011968 | Feeding difficulties | Occasional (29-5%) |
| HP:0012106 | Rhizomelic leg shortening | Occasional (29-5%) |
| HP:0012795 | Abnormality of the optic disc | Occasional (29-5%) |
| HP:0030048 | Colpocephaly | Occasional (29-5%) |
| HP:0031528 | Subretinal deposits | Occasional (29-5%) |
| HP:0100259 | Postaxial polydactyly | Occasional (29-5%) |
| HP:0100954 | Open operculum | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|