Clinical features | Individuals with SHANK3 mutations (current study) | Individuals with 22q13 deletions [2] |
---|---|---|
Intellectual disability | 17/17 (100%) | 29/30 (97%) |
ASD | 11/16 (69%) | 26/30 (87%) |
Verbally fluent | 3/17 (18%) | 0/30 |
Repetitive behaviors | 16/17 (94%) | 30/30 (100%) |
Hyperactivity | 11/17 (65%) | 14/30 (47%) |
Aggression | 8/17 (47%) | 13/30 (43%) |
Sleep disturbance | 10/17 (59%) | 12/30 (40%) |
Hypotonia | 16/17 (94%) | 23/30 (77%) |
Gait abnormalities | 14/17 (82%) | 13/14 (93%) |
Seizures | 5/17 (29%) | 12/30 (40%) |
Abnormal brain MRI | 5/15 (33%) | 18/26 (69%) |
Short staturea | 5/16 (31%) | 3/30 (10%) |
Tall statureb | 0/16 | 1/30 (3%) |
Microcephalyc | 1/14 (7%) | 2/30 (7%) |
Macrocephalyd | 3/14 (21%) | 9/30 (30%) |
Dolichocephaly | 1/11 (9%) | 7/30 (23%) |
Sparse hair/abnormal whorl | 2/11 (18%) | 5/30 (17%) |
Long eyelashes | 8/11 (73%) | 13/30 (43%) |
Periorbital fullness | 4/11 (36%) | 8/30 (27%) |
Hypertelorism | 0/11 | 3/30 (10%) |
Deep set eyes | 5/11 (45%) | 2/30 (7%) |
Ptosis | 0/11 | 2/30 (7%) |
Epicanthal folds | 5/11 (45%) | 9/30 (30%) |
Strabismus | 2/17 (12%) | 3/30 (10%) |
Wide nasal bridge | 6/11 (55%) | 4/30 (13%) |
Bulbous nose | 6/11 (55%) | 15/30 (50%) |
Full cheeks | 2/11 (18%) | 8/30 (27%) |
Malar hypoplasia | 5/11 (45%) | 3/30 (10%) |
Long philtrum | 3/11 (27%) | 5/30 (17%) |
Malocclusion | 7/11 (64%) | 5/30 (17%) |
Widely spaced teeth | 0/11 | 1/30 (3%) |
High arched palate | 6/10 (60%) | 8/30 (27%) |
Ear anomalies | 4/11 (36%) | 13/30 (43%) |
Pointed chin | 7/11 (64%) | 7/30 (23%) |
Large fleshy hands | 3/11 (27%) | 17/30 (57%) |
5th finger clinodactyly | 9/11 (82%) | 3/30 (10%) |
Syndactyly of toes 2–3 | 5/11 (45%) | 3/30 (10%) |
Hypoplastic/dysplastic nails | 7/11 (64%) | 11/30 (37%) |
Hyperextensibility | 6/10 (60%) | 8/30 (27%) |
Scoliosis | 1/11 (9%) | 7/30 (23%) |
Sacral dimple | 0/10 | 4/30 (13%) |
Gastroesophageal reflux | 5/17 (29%) | 13/30 (43%) |
Constipation/diarrhea | 11/17 (65%) | 11/30 (37%) |
Increased pain tolerance | 16/17 (94%) | 26/30 (87%) |
Recurrent infections | 9/17 (53%) | 16/30 (53%) |
Renal abnormalities | 0/17 | 12/30 (40%) |
Congenital heart defect | 1/17 (6%) | 1/30 (3%) |
Hypothyroidism | 0/17 | 1/30 (3%) |
Lymphedema | 0/17 | 7/30 (23%) |