Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 27
HPO ID | Term | Frequency |
---|---|---|
HP:0000256 | Macrocephaly | Very frequent (99-80%) |
HP:0000962 | Hyperkeratosis | Very frequent (99-80%) |
HP:0002209 | Sparse scalp hair | Very frequent (99-80%) |
HP:0009592 | Astrocytoma | Very frequent (99-80%) |
HP:0012500 | Verrucous papule | Very frequent (99-80%) |
HP:0100006 | Neoplasm of the central nervous system | Very frequent (99-80%) |
HP:0001250 | Seizures | Frequent (79-30%) |
HP:0001268 | Mental deterioration | Frequent (79-30%) |
HP:0000077 | Abnormality of the kidney | Occasional (29-5%) |
HP:0000481 | Abnormal cornea morphology | Occasional (29-5%) |
HP:0000486 | Strabismus | Occasional (29-5%) |
HP:0000488 | Retinopathy | Occasional (29-5%) |
HP:0000518 | Cataract | Occasional (29-5%) |
HP:0000612 | Iris coloboma | Occasional (29-5%) |
HP:0000929 | Abnormal skull morphology | Occasional (29-5%) |
HP:0001305 | Dandy-Walker malformation | Occasional (29-5%) |
HP:0001770 | Toe syndactyly | Occasional (29-5%) |
HP:0001883 | Talipes | Occasional (29-5%) |
HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
HP:0002148 | Hypophosphatemia | Occasional (29-5%) |
HP:0002650 | Scoliosis | Occasional (29-5%) |
HP:0002652 | Skeletal dysplasia | Occasional (29-5%) |
HP:0002816 | Genu recurvatum | Occasional (29-5%) |
HP:0004349 | Reduced bone mineral density | Occasional (29-5%) |
HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Occasional (29-5%) |
HP:0008060 | Aplasia/Hypoplasia of the fovea | Occasional (29-5%) |
HP:0010049 | Short metacarpal | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|