Table 3.
Frequency of clinical features in the different groups of patients with variants in the SETD2 gene. LLS, Luscan–Lumish syndrome; RAPAS, Rabin–Pappas syndrome; and MRD70, Intellectual developmental disorder, autosomal dominant 70.
| HPO Terms Clinical Features | LLS Patients | RAPAS Patients | MRD70 Patients | ||||
|---|---|---|---|---|---|---|---|
| No. Patients | % Patients | No. Patients | % Patients | No. Patients | % Patients | ||
| HP:0000256 | Macrocephaly | 23 | 67.6 | 0 | 0 | 0 | 0 |
| HP:0001548 | Overgrowth | 17 | 50.0 | 0 | 0 | 0 | 0 |
| HP:0000729 | Autism spectrum disorder | 17 | 50.0 | 0 | 0 | 0 | 0 |
| HP:0001249 | Intellectual disability | 16 | 47.1 | 14 | 100 | 3 | 100 |
| HP:0000750 | Speech delay | 15 | 44.1 | 0 | 0 | 3 | 100 |
| HP:0001263 | Developmental delay | 13 | 38.2 | 14 | 100 | 3 | 100 |
| HP:0011220 | Prominent forehead | 11 | 32.4 | 1 | 7.1 | 0 | 0 |
| HP:0001513 | Obesity | 11 | 32.4 | 0 | 0 | 0 | 0 |
| HP:0001270 | Motor delay | 11 | 32.4 | 14 | 100 | 2 | 66.7 |
| HP:0000098 | Tall stature | 10 | 29.4 | 0 | 0 | 0 | 0 |
| HP:0007018 | Attention deficit hyperactivity disorder | 9 | 26.5 | 0 | 0 | 0 | 0 |
| HP:0000708 | Behavioral abnormality | 9 | 26.5 | 0 | 0 | 0 | 0 |
| HP:0009890 | High anterior hairline | 8 | 23.5 | 1 | 7.1 | 0 | 0 |
| HP:0000388 | Otitis media | 8 | 23.5 | 0 | 0 | 0 | 0 |
| HP:0000337 | Broad forehead | 6 | 17.6 | 1 | 7.1 | 0 | 0 |
| HP:0001833 | Large feet | 6 | 17.6 | 0 | 0.0 | 0 | 0 |
| HP:0001252 | Hypotonia | 5 | 14.7 | 14 | 100 | 2 | 66.7 |
| HP:0000483 | Astigmatism | 5 | 14.7 | 0 | 0 | 0 | 0 |
| HP:0001176 | Long/Large hands | 5 | 14.7 | 0 | 0 | 0 | 0 |
| HP:0000718 | Aggressive behavior | 5 | 14.7 | 0 | 0 | 0 | 0 |
| HP:0000348 | High forehead | 5 | 14.7 | 0 | 0 | 0 | 0 |
| HP:0000494 | Downslanted palpebral fissures | 5 | 14.7 | 0 | 0 | 0 | 0 |
| HP:0000316 | Hypertelorism | 4 | 11.8 | 12 | 85.7 | 0 | 0 |
| HP:0002007 | Frontal bossing | 4 | 11.8 | 1 | 7.1 | 0 | 0 |
| HP:0000278 | Scoliosis | 4 | 11.8 | 8 | 57.1 | 0 | 0 |
| HP:0000307 | Pointed chin | 4 | 11.8 | 0 | 0 | 1 | 33.3 |
| HP:0001627 | Congenital heart defect | 4 | 11.8 | 12 | 85.7 | 0 | 0 |
| HP:0000739 | Anxiety | 4 | 11.8 | 0 | 0 | 0 | 0 |
| HP:0003764 | Nevus | 4 | 11.8 | 0 | 0 | 0 | 0 |
| HP:0000276 | Long face | 4 | 11.8 | 0 | 0 | 0 | 0 |
| HP:0002719 | Recurrent infections | 4 | 11.8 | 2 | 14.3 | 0 | 0 |
| HP:0001250 | Seizures | 3 | 8.8 | 8 | 57.1 | 0 | 0 |
| HP:0000924 | Abnormality of the skeletal system | 2 | 5.9 | 14 | 100 | 2 | 66.7 |
| HP:0000272 | Malar flattening | 2 | 5.9 | 0 | 0 | 1 | 33.3 |
| HP:0007360 | Cerebellar hypoplasia | 1 | 2.9 | 12 | 85.7 | 0 | 0 |
| HP:0007370 | Hypoplasia of the corpus callosum | 1 | 2.9 | 9 | 64.3 | 0 | 0 |
| HP:0000405 | Conductive hearing impairment | 1 | 2.9 | 7 | 50.0 | 0 | 0 |
| HP:0001344 | Absent speech | 1 | 2.9 | 14 | 100 | 0 | 0 |
| HP:0000252 | Microcephaly | 0 | 0 | 14 | 100 | 0 | 0 |
| HP:0011968 | Feeding difficulties | 0 | 0 | 13 | 92.8 | 0 | 0 |
| HP:0001531 | Failure to thrive in infancy | 0 | 0 | 12 | 85.7 | 0 | 0 |
| HP:0000347 | Micrognathia | 0 | 0 | 12 | 85.7 | 0 | 0 |
| HP:0000119 | Abnormality of the genitourinary system | 0 | 0 | 12 | 85.7 | 0 | 0 |
| HP:0002553 | Highly arched eyebrow | 0 | 0 | 11 | 78.6 | 0 | 0 |
| HP:0000455 | Broad nasal tip | 0 | 0 | 9 | 64.3 | 1 | 33.3 |
| HP:0002791 | Hypoventilation | 0 | 0 | 9 | 64.3 | 0 | 0 |
| HP:0009765 | Low-hanging columella | 0 | 0 | 9 | 64.3 | 0 | 0 |
| HP:0000431 | Wide nasal bridge | 0 | 0 | 9 | 64.3 | 0 | 0 |
| HP:0007763 | Retinal telangiectasia | 0 | 0 | 9 | 64.3 | 0 | 0 |
| HP:0002902 | Hyponatremia | 0 | 0 | 8 | 57.1 | 0 | 0 |
| HP:0000327 | Hypoplasia of the maxilla | 0 | 0 | 8 | 57.1 | 0 | 0 |
| HP:0012110 | Hypoplasia of the pons | 0 | 0 | 8 | 57.1 | 0 | 0 |
| HP:0000629 | Periorbital fullness | 0 | 0 | 8 | 57.1 | 0 | 0 |
| HP:0007763 | Retinal telangiectasia | 0 | 0 | 8 | 57.1 | 0 | 0 |
| HP:0012745 | Short palpebral fissure | 0 | 0 | 8 | 57.1 | 0 | 0 |
| HP:0000582 | Upslanted palpebral fissures | 0 | 0 | 5 | 35.7 | 1 | 33.3 |
| HP:0000278 | Retrognathia | 0 | 0 | 1 | 7.1 | 2 | 66.7 |