Total: 30
HPO ID | Term | Frequency |
---|---|---|
HP:0000252 | Microcephaly | Very frequent (99-80%) |
HP:0000316 | Hypertelorism | Very frequent (99-80%) |
HP:0000391 | Thickened helices | Very frequent (99-80%) |
HP:0000426 | Prominent nasal bridge | Very frequent (99-80%) |
HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
HP:0001249 | Intellectual disability | Very frequent (99-80%) |
HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
HP:0004322 | Short stature | Very frequent (99-80%) |
HP:0000243 | Trigonocephaly | Frequent (79-30%) |
HP:0000286 | Epicanthus | Frequent (79-30%) |
HP:0000347 | Micrognathia | Frequent (79-30%) |
HP:0000369 | Low-set ears | Frequent (79-30%) |
HP:0000411 | Protruding ear | Frequent (79-30%) |
HP:0000470 | Short neck | Frequent (79-30%) |
HP:0000508 | Ptosis | Frequent (79-30%) |
HP:0000518 | Cataract | Frequent (79-30%) |
HP:0000568 | Microphthalmia | Frequent (79-30%) |
HP:0000612 | Iris coloboma | Frequent (79-30%) |
HP:0001156 | Brachydactyly | Frequent (79-30%) |
HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
HP:0006101 | Finger syndactyly | Frequent (79-30%) |
HP:0007477 | Abnormal dermatoglyphics | Frequent (79-30%) |
HP:0009919 | Retinoblastoma | Frequent (79-30%) |
HP:0000465 | Webbed neck | Occasional (29-5%) |
HP:0001360 | Holoprosencephaly | Occasional (29-5%) |
HP:0002079 | Hypoplasia of the corpus callosum | Occasional (29-5%) |
HP:0009601 | Aplasia/Hypoplasia of the thumb | Occasional (29-5%) |
HP:0011024 | Abnormality of the gastrointestinal tract | Occasional (29-5%) |
Total: 6
HPO ID | Term | # of case reports |
---|---|---|
HP:0000821 | Hypothyroidism | 1 |
HP:0000854 | Thyroid adenoma | 1 |
HP:0001305 | Dandy-Walker malformation | 1 |
HP:0002155 | Hypertriglyceridemia | 1 |
HP:0003124 | Hypercholesterolemia | 1 |
HP:0007824 | Total ophthalmoplegia | 1 |