Table 1 Clinical summary.
From: JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Individual | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | |
nb male/total (%) | |||||||||||||||||
Gender | F | F | M | M | F | M | M | M | M | M | M | M | M | M | F | M | 12/16 (75%) |
Median age (range) | |||||||||||||||||
Age (years) | 17 | 19 | 9 | 3.5 | 7 | 38 | 4 | 10 | 12.5 | 7.3 | 23 | 4 | 3.2 | 8 | 39 | 10.8 | 9.5 (3.2–39) |
Type variant | Del | Del | Del | Del | Del | Del | Del | Del | FS | NS | FS | NS | SS | Mis | Mis | Mis | |
Inheritance | dn | dn | dn | dn | Pa | NA | NA | dn | dn | NA | dn | dn | dn | dn | dn | dn | |
Clinical information | nb affected/nb assessed (%) | ||||||||||||||||
Growth | |||||||||||||||||
Age at assessment (years) | 16 | 7 | 9 | 3.5 | 7 | 38 | 5 | 9.6 | 12.6 | 7.3 | 23 | 4 | 1.4 | 8 | 39 | 10.8 | |
Height | N | ↑ | N | N | ↑ | NA | ↑ | N | ↑ | N | N | N | N | ↑ | N | N | |
Weight | N | N | ↑ | N | N | NA | ↑ | N | N | N | N | N | N | ↑ | N | ↑ | |
Head circumference | N | NA | NA | N | N | NA | ↑ | N | N | ↓ | NA | N | N | ↑ | N | N | |
Microcephaly | – | NA | NA | – | – | NA | – | – | – | + | NA | – | – | – | – | – | 1/12 (8%) |
Macrocephaly | – | NA | NA | – | – | NA | + | – | – | – | NA | – | – | + | – | – | 2/12 (17%) |
Development/behavior | |||||||||||||||||
Intellectual disability | + | – | + | – | + | + | + | – | + | + | + | + | NA | + | – | + | 11/15 (73%) |
Developmental delay | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 16/16 (100%) |
Behavior abnormalities | – | + | – | – | – | – | + | – | + | + | + | – | – | + | + | – | 7/16 (44%) |
Autistic features | + | – | + | + | – | – | + | – | + | + | – | + | – | + | + | – | 9/16 (56%) |
ASD diagnosis | – | – | – | – | – | – | – | – | + | – | – | – | – | + | + | – | 3/16 (19%) |
Neurologic | |||||||||||||||||
Hypotonia | – | – | – | + | – | – | + | – | – | + | – | + | + | – | – | – | 5/16 (31%) |
Gait disturbance | – | – | – | – | – | – | – | – | – | – | – | + | – | – | – | – | 1/16 (6%) |
Epilepsy | – | – | – | – | – | + | + | – | – | – | + | – | – | – | – | – | 3/16 (19%) |
MRI abnormalities | NA | NA | NA | – | – | NA | – | – | + | NA | – | + | + | + | NA | NA | 4/9 (44%) |
Dysmorphisms | |||||||||||||||||
Broad forehead | – | – | + | – | + | + | – | – | – | – | – | – | + | – | – | – | 4/16 (25%) |
High anterior hairline | + | + | – | + | + | + | – | – | + | – | – | – | – | – | – | – | 6/16 (38%) |
Prominent supraorbital ridges | – | – | – | – | + | + | – | – | – | – | + | – | – | – | – | – | 3/16 (19%) |
Deep set eyes | + | + | – | – | + | + | – | – | – | – | – | + | + | – | – | – | 6/16 (38%) |
Infraorbital dark circles | + | – | + | – | + | + | – | – | – | – | – | – | – | – | – | – | 4/16 (25%) |
Midface hypoplasia | – | + | – | – | + | + | – | – | – | – | – | – | – | – | – | – | 3/16 (19%) |
Depressed nasal bridge | + | – | – | + | + | + | – | – | – | – | – | – | – | – | – | – | 4/16 (25%) |
Bulbous nasal tip | + | – | – | – | + | + | + | – | – | – | – | – | – | – | – | – | 4/16 (25%) |
Short philtrum | + | + | – | – | – | – | – | – | + | – | – | – | – | – | – | – | 3/16 (19%) |
Full lips | + | – | – | + | – | – | – | – | + | + | + | – | – | – | – | – | 5/16 (31%) |
Hand/foot abnormalities | + | – | + | – | + | – | + | – | – | – | – | – | – | – | + | – | 5/16 (31%) |
Other | |||||||||||||||||
Cardiac anomalies | – | – | – | – | – | – | – | – | – | + | – | – | – | – | – | – | 1/16 (6%) |
Musculoskeletal anomalies | – | – | – | + | – | – | – | + | – | – | + | + | + | – | – | – | 5/16 (31%) |
Dental anomalies | – | – | – | – | + | – | – | + | – | – | – | – | – | – | – | – | 2/16 (13%) |
Cleft lip/palate | – | + | – | – | – | – | – | – | – | – | – | – | – | – | – | – | 1/16 (6%) |
Eye/vision anomalies | – | – | + | – | – | – | – | – | – | + | – | – | – | + | + | – | 4/16 (25%) |
Cutaneous anomalies | + | – | – | – | + | – | – | – | + | – | – | – | – | – | – | – | 3/16 (19%) |
Perinatal complications | – | – | + | + | – | + | – | – | + | NA | – | + | – | + | + | – | 7/15 (47%) |
