Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 39
HPO ID | Term | Frequency |
---|---|---|
HP:0000238 | Hydrocephalus | Very frequent (99-80%) |
HP:0000256 | Macrocephaly | Very frequent (99-80%) |
HP:0000278 | Retrognathia | Very frequent (99-80%) |
HP:0000316 | Hypertelorism | Very frequent (99-80%) |
HP:0000369 | Low-set ears | Very frequent (99-80%) |
HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
HP:0000682 | Abnormality of dental enamel | Very frequent (99-80%) |
HP:0000691 | Microdontia | Very frequent (99-80%) |
HP:0000958 | Dry skin | Very frequent (99-80%) |
HP:0000963 | Thin skin | Very frequent (99-80%) |
HP:0000966 | Hypohidrosis | Very frequent (99-80%) |
HP:0001274 | Agenesis of corpus callosum | Very frequent (99-80%) |
HP:0001288 | Gait disturbance | Very frequent (99-80%) |
HP:0002007 | Frontal bossing | Very frequent (99-80%) |
HP:0002119 | Ventriculomegaly | Very frequent (99-80%) |
HP:0002213 | Fine hair | Very frequent (99-80%) |
HP:0003196 | Short nose | Very frequent (99-80%) |
HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Very frequent (99-80%) |
HP:0008736 | Hypoplasia of penis | Very frequent (99-80%) |
HP:0008872 | Feeding difficulties in infancy | Very frequent (99-80%) |
HP:0010669 | Hypoplasia of the zygomatic bone | Very frequent (99-80%) |
HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
HP:0010978 | Abnormality of immune system physiology | Very frequent (99-80%) |
HP:0100840 | Aplasia/Hypoplasia of the eyebrow | Very frequent (99-80%) |
HP:0000023 | Inguinal hernia | Occasional (29-5%) |
HP:0000028 | Cryptorchidism | Occasional (29-5%) |
HP:0000175 | Cleft palate | Occasional (29-5%) |
HP:0000286 | Epicanthus | Occasional (29-5%) |
HP:0000490 | Deeply set eye | Occasional (29-5%) |
HP:0000492 | Abnormal eyelid morphology | Occasional (29-5%) |
HP:0000767 | Pectus excavatum | Occasional (29-5%) |
HP:0000821 | Hypothyroidism | Occasional (29-5%) |
HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
HP:0001561 | Polyhydramnios | Occasional (29-5%) |
HP:0001852 | Sandal gap | Occasional (29-5%) |
HP:0002558 | Supernumerary nipple | Occasional (29-5%) |
HP:0002991 | Abnormality of fibula morphology | Occasional (29-5%) |
HP:0010624 | Aplastic/hypoplastic toenail | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|