Table 1.
Summary of demographic and clinical features in individuals with ZFX variants
| Demographic and clinical features | Frequencya (%) | ||
|---|---|---|---|
| Missense | Frameshift | Total | |
| Sex | males: 8/11 (73) | males: 6/7 (86) | males: 14/18 (78) |
| Mean Age (±SD) | 16.04 (±7.95) | 12.24 (±5.7) | 14.52 (±7.2) |
| De novo inheritance | 6/11 (55) | 4/7 (57) | 10/18 (56) |
| Development and neurobehavioral | |||
| Developmental delay/intellectual disability | 10/11 (91) | 7/7 (100) | 17/18 (94) |
| Gross motor delay | 9/11 (82) | 7/7 (100) | 16/18 (89) |
| Fine motor delay | 9/11 (82) | 7/7 (100) | 16/18 (89) |
| Speech delay | 10/11 (91) | 6/7 (86) | 16/18 (89) |
| ADHD | 5/11 (45) | 1/7 (14) | 6/18 (33) |
| Autism | 5/11 (45) | 1/7 (14) | 6/18 (33) |
| Autistic traitsb | 1/11 (9) | 2/7 (29) | 3/18 (17) |
| Other behavioral abnormalities | 9/11 (82) | 1/7 (14) | 10/18 (56) |
| Therapeutic services or special education | 10/11 (91) | 7/7 (100) | 17/18 (94) |
| Neurological | |||
| Hypotonia | 9/11 (82) | 4/7 (57) | 13/18 (72) |
| Abnormal brain MRI | 4/7 (57) | 6/6 (100) | 10/13 (77) |
| Sleep problems | 6/11 (55) | 2/7 (29) | 8/18 (44) |
| Epilepsy | 1/11 (9) | 1/7 (14) | 2/18 (11) |
| Growth parameters | |||
| Height 10%ile | 4/11 (36) | 4/7 (57) | 7/18 (39) |
| OFCc 90%ile | 4/10 (40) | 2/6 (33) | 6/16 (38) |
| Vision and hearing | |||
| Vision/eye abnormalities | 7/11 (64) | 6/7 (86) | 13/18 (72) |
| Hearing loss | 7/11 (64) | 2/7 (29) | 9/18 (50) |
| Dysmorphic features | |||
| Broad/thick eyebrows synophrys | 9/11 (82) | 6/7 (86) | 15/18 (83) |
| External eye findings | 9/11 (82) | 6/7 (86) | 15/18 (83) |
| Other face abnormalities | 10/11 (91) | 5/7 (71) | 15/18 (83) |
| Smooth long philtrum | 8/11 (72) | 6/7 (83) | 14/18 (78) |
| Ear abnormalities | 10/11 (91) | 4/7 (57) | 14/18 (78) |
| Thin upper lip | 10/11 (91) | 3/7 (43) | 13/18 (72) |
| Nose abnormalities | 6/11(55) | 6/7 (86) | 12/18 (67) |
| Forehead abnormalities | 6/11 (55) | 4/7 (57) | 10/18 (56) |
| Macroglossia | 7/11 (64) | 1/7 (14) | 8/18 (44) |
| Miscellaneous | |||
| Musculoskeletal findings | 10/11 (91) | 7/7 (100) | 17/18 (94) |
| Inguinal hernia | 9/11 (82) | 4/7 (57) | 13/18 (72) |
| Umbilical hernia | 8/11 (72) | 1/7 (14) | 9/18 (50) |
| Genitourinary congenital anomalies (males) | 7/8 (88) | 3/6 (50) | 10/14 (71) |
| Abnormal echocardiography | 4/9 (44) | 4/5 (80) | 8/14 (57) |
| Gastrointestinal abnormalities | 10/11 (91) | 2/7 (29) | 12/18 (67) |
| Abnormal renal ultrasound | 5/10 (50) | 4/7 (57) | 9/17 (53) |
| Hyperparathyroidism | 3/7 (43) | 0/5 (0) | 3/12 (25) |
a
Denominator can vary based on data availability
b
Autistic traits but no formal diagnosis with autism
c
OFC, occipital frontal circumference