HPO ID* | CREBBP (n=308) | EP300 (n=52) | |
Growth | |||
Intrauterine growth retardation | 0001511 | 49 | 42 |
Postnatal growth retardation | 0004322 | 75 | 66 |
Obesity | 0001513 | 29 | 39 |
Microcephaly | 0000252 | 54 | 87 |
Craniofacial features | |||
Highly arched eyebrows | 0002253 | 85 | 65 |
Long eyelashes | 0000527 | 89 | 90 |
Epicanthal folds | 0000286 | 44 | 15 |
Strabismus | 0000486 | 71 | 39 |
Myopia | 0000545 | 56 | 24 |
Downslanted palpebral fissures | 0000494 | 79 | 56 |
Convex nasal ridge | 0000444 | 81 | 44 |
Columella below alae nasi | 0009765 | 88 | 92 |
Typical smile† | 0000273 | 94 | 47 |
Highly arched palate | 0002705 | 77 | 67 |
Talon cusps‡ | 0011087 | 73 | 4 |
Micrognathia | 0000347 | 61 | 42 |
Low-set ears | 0000369 | 44 | 27 |
Trunk and limbs | |||
Broad thumbs | 0011304 | 96 | 69 |
Angulated thumbs | § | 49 | 2 |
Broad finger tips | 0011300 | 87 | 22 |
Broad halluces | 0010055 | 95 | 81 |
Hypertrichosis | 0000998 | 76 | 51 |
Keloids | 0010562 | 23 | 10 |
Scoliosis | 0002650 | 18 | 25 |
Cardiovascular anomalies | 0002564 | 35 | 26 |
Constipation | 0002019 | 76 | 54 |
Urinary tract anomalies | 0000079 | 28 | 24 |
Neuromuscular | |||
Seizures | 0001250 | 25 | 10 |
Cognition and behaviour | |||
Intellectual disability (any degree) | 0001249 | 99 | 94 |
Autism/autism spectrum disorder | 0000729 | 49 | 25 |
*HPO ID, Human Phenotype Ontology Identifier.
†Smile characterized by crescent-moon shaped palpebral fissures, deepening of labionasal folds, upturned corners of the mouth, usually mouth almost closed, tight upper vermillion and pouting lower vermillion.
‡Permanent dentition.
§No HPO identifier available; we used as definition: angulation of the distal phalanx of a thumb towards the anterior axis (radial side) of the limb.