| Development |
| Intellectual disability/speech delay |
| Growth |
| Short stature |
| Congenital abnormalities |
| Very deep-set eyes |
| Corneal opacities - bilateral Peter’s anomaly |
| Choanal atresia |
| Abnormal enamel on teeth |
| Patent ductus arteriosus |
| GU anomaly |
| Scoliosis |
| Slight hip dysplasia |
| Absence of ribs |
| Imperforate anus |
| Neurology |
| Hypotonia |
| Brain abnormalities |
| Dandy-Walker malformation (variant) |
| Thin corpus callosum |
| Hypoplasia of cerebellar tonsils |
| Ventriculomegaly |
| Communicating hydrocephalus |
| Cancer |
| Precursor B-cell ALL |
| Other |
| Hearing loss (unclear if it is because of chemotherapy or not). She received bilateral cochlear implants at 8 y of age. |
| Overlapping toes |
| Umbilical polyp |
| Ulnar deviation of fingers |
| Bilateral simian crease in palm |
| Development |
| Intellectual disability/speech delay |
| Growth |
| Short stature |
| Congenital abnormalities |
| Very deep-set eyes |
| Corneal opacities - bilateral Peter’s anomaly |
| Choanal atresia |
| Abnormal enamel on teeth |
| Patent ductus arteriosus |
| GU anomaly |
| Scoliosis |
| Slight hip dysplasia |
| Absence of ribs |
| Imperforate anus |
| Neurology |
| Hypotonia |
| Brain abnormalities |
| Dandy-Walker malformation (variant) |
| Thin corpus callosum |
| Hypoplasia of cerebellar tonsils |
| Ventriculomegaly |
| Communicating hydrocephalus |
| Cancer |
| Precursor B-cell ALL |
| Other |
| Hearing loss (unclear if it is because of chemotherapy or not). She received bilateral cochlear implants at 8 y of age. |
| Overlapping toes |
| Umbilical polyp |
| Ulnar deviation of fingers |
| Bilateral simian crease in palm |
Phenotype categories adapted from Jolly et al.5