Total: 49
HPO ID | Term | Frequency |
---|---|---|
HP:0000252 | Microcephaly | Very frequent (99-80%) |
HP:0000271 | Abnormality of the face | Very frequent (99-80%) |
HP:0000278 | Retrognathia | Very frequent (99-80%) |
HP:0000294 | Low anterior hairline | Very frequent (99-80%) |
HP:0000340 | Sloping forehead | Very frequent (99-80%) |
HP:0000364 | Hearing abnormality | Very frequent (99-80%) |
HP:0000400 | Macrotia | Very frequent (99-80%) |
HP:0000426 | Prominent nasal bridge | Very frequent (99-80%) |
HP:0000444 | Convex nasal ridge | Very frequent (99-80%) |
HP:0000448 | Prominent nose | Very frequent (99-80%) |
HP:0000470 | Short neck | Very frequent (99-80%) |
HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
HP:0001268 | Mental deterioration | Very frequent (99-80%) |
HP:0001595 | Abnormal hair morphology | Very frequent (99-80%) |
HP:0001873 | Thrombocytopenia | Very frequent (99-80%) |
HP:0001878 | Hemolytic anemia | Very frequent (99-80%) |
HP:0001890 | Autoimmune hemolytic anemia | Very frequent (99-80%) |
HP:0002002 | Deep philtrum | Very frequent (99-80%) |
HP:0002023 | Anal atresia | Very frequent (99-80%) |
HP:0002025 | Anal stenosis | Very frequent (99-80%) |
HP:0002028 | Chronic diarrhea | Very frequent (99-80%) |
HP:0002205 | Recurrent respiratory infections | Very frequent (99-80%) |
HP:0003220 | Abnormality of chromosome stability | Very frequent (99-80%) |
HP:0004322 | Short stature | Very frequent (99-80%) |
HP:0004326 | Cachexia | Very frequent (99-80%) |
HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
HP:0005425 | Recurrent sinopulmonary infections | Very frequent (99-80%) |
HP:0006532 | Recurrent pneumonia | Very frequent (99-80%) |
HP:0007018 | Attention deficit hyperactivity disorder | Very frequent (99-80%) |
HP:0011362 | Abnormal hair quantity | Very frequent (99-80%) |
HP:0012732 | Anorectal anomaly | Very frequent (99-80%) |
HP:0002664 | Neoplasm | Frequent (79-30%) |
HP:0100515 | Pollakisuria | Frequent (79-30%) |
HP:0000175 | Cleft palate | Occasional (29-5%) |
HP:0000492 | Abnormal eyelid morphology | Occasional (29-5%) |
HP:0000992 | Cutaneous photosensitivity | Occasional (29-5%) |
HP:0001324 | Muscle weakness | Occasional (29-5%) |
HP:0001480 | Freckling | Occasional (29-5%) |
HP:0002269 | Abnormality of neuronal migration | Occasional (29-5%) |
HP:0002488 | Acute leukemia | Occasional (29-5%) |
HP:0002665 | Lymphoma | Occasional (29-5%) |
HP:0002859 | Rhabdomyosarcoma | Occasional (29-5%) |
HP:0002878 | Respiratory failure | Occasional (29-5%) |
HP:0003011 | Abnormality of the musculature | Occasional (29-5%) |
HP:0003202 | Skeletal muscle atrophy | Occasional (29-5%) |
HP:0009733 | Glioma | Occasional (29-5%) |
HP:0012190 | T-cell lymphoma | Occasional (29-5%) |
HP:0012191 | B-cell lymphoma | Occasional (29-5%) |
HP:0100335 | Non-midline cleft lip | Occasional (29-5%) |
Total: 16
HPO ID | Term | # of case reports |
---|---|---|
HP:0000252 | Microcephaly | 17 |
HP:0002721 | Immunodeficiency | 16 |
HP:0000253 | Progressive microcephaly | 1 |
HP:0000320 | Bird-like facies | 1 |
HP:0001009 | Telangiectasia | 1 |
HP:0001251 | Ataxia | 1 |
HP:0001888 | Lymphopenia | 1 |
HP:0001909 | Leukemia | 1 |
HP:0004322 | Short stature | 1 |
HP:0004418 | Thrombophlebitis | 1 |
HP:0005374 | Cellular immunodeficiency | 1 |
HP:0005387 | Combined immunodeficiency | 1 |
HP:0005425 | Recurrent sinopulmonary infections | 1 |
HP:0008897 | Postnatal growth retardation | 1 |
HP:0032252 | Granuloma | 1 |
HP:0040012 | Chromosome breakage | 1 |