TABLE 2.
Phenotypic findings observed in 24 individuals with TAF1 variants from 22 families
| HPO ID | Phenotype | Positive count | Prevalence (% positive/(negative + unknown) |
|---|---|---|---|
| Developmental | |||
| HP:0001263 | Global developmental delay | 23 | 95.8 |
| HP:0000750 | Delayed speech and language development | 22 | 91.7 |
| HP:0002194 | Delayed gross motor development | 12 | 66.7 |
| HP:0001288 | Gait disturbance | 7 | 29.2 |
| HP:0007010 | Poor fine motor coordination | 2 | 8.3 |
| Neurological | |||
| HP:0001249 | Intellectual disability | 14 | 63.7 |
| HP:0001250 | Seizures | 6 | 25.0 |
| HP:0002079 | Hypoplasia of the corpus callosum | 5 | 22.7 |
| HP:0002119 | Ventriculomegaly | 5 | 22.7 |
| Behavioral | |||
| HP:0000729 | Autistic behavior | 4 | 16.7 |
| HP:0100716 | Self-injurious behavior | 3 | 12.5 |
| HP:0100023 | Recurrent hand flapping | 2 | 8.3 |
| Feeding | |||
| HP:0011968 | Feeding difficulties | 15 | 62.5 |
| HP:0002020 | Gastroesophageal reflux | 5 | 20.8 |
| Growth | |||
| HP:0001511 | Intrauterine growth retardation | 7 | 29.2 |
| HP:0008897 | Postnatal growth retardation | 7 | 29.2 |
| Craniofacial | |||
| HP:0000252 | Microcephaly | 10 | 41.7 |
| HP:0000219 | Thin upper lip vermilion | 6 | 25 |
| HP:0000316 | Hypertelorism | 5 | 20.8 |
| HP:0000278 | Retrognathia | 5 | 20.8 |
| HP:0000490 | Deep-set eye | 5 | 20.8 |
| HP:0000414 | Bulbous nose | 5 | 20.8 |
| HP:0000486 | Strabismus | 5 | 20.8 |
| HP:0000431 | Wide nasal bridge | 4 | 16.7 |
| HP:0005469 | Flat occiput | 4 | 16.7 |
| HP:0000218 | High palate | 3 | 16.7 |
| HP:0000343 | Long philtrum | 3 | 12.5 |
| HP:0002307 | Drooling | 3 | 12.5 |
| HP:0000463 | Anteverted nares | 2 | 8.3 |
| Hearing | |||
| HP:0000407 | Sensorineural hearing impairment | 5 | 20.8 |
| HP:0000410 | Mixed hearing impairment | 2 | 8.3 |
| Musculoskeletal | |||
| HP:0001290 | Generalized hypotonia | 17 | 70.8 |
| HP:0004322 | Short stature | 10 | 41.7 |
| HP:0000960 | Sacral dimple | 8 | 33.3 |
| HP:0000921 | Missing ribs | 4 | 16.7 |
| HP:0002650 | Scoliosis | 3 | 12.5 |
| HP:0001763 | Pes planus | 3 | 12.5 |
| HP:0001382 | Joint hypermobility | 2 | 8.3 |
| HP:0000768 | Pectus carinatum | 2 | 8.3 |
| HP:0000767 | Pectus excavatum | 2 | 8.3 |
| HP:0002808 | Kyphosis | 2 | 8.3 |
| HP:0001385 | Hip dysplasia | 2 | 8.3 |
| HP:0001770 | Toe syndactyly | 1 | 4.2 |
| HP:0010442 | Polydactyly | 1 | 4.2 |
| HP:0001156 | Brachydactyly | 1 | 4.2 |
| Cardiac | |||
| HP:0001629 | Ventricular septal defect | 6 | 25.0 |
| HP:0001631 | Atrial septal defect | 2 | 4.2 |
| HP:0001680 | Coarctation of the Aorta | 1 | 4.2 |
| HP:0001636 | Tetralogy of Fallot | 1 | 4.2 |
| Genitourinary | |||
| HP:0000028 | Cryptorchidism | 7 | 29.2 |
| HP:0000047 | Hypospadias | 4 | 16.7 |
Abbreviations: HPO, Human Phenotype Ontology; TAF1, TATA-box binding protein associated factor 1.