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Table 4 Clinical features in individuals with SHANK3 mutations as compared to 22q13 deletions including SHANK3

From: Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

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%)
  1. ASD autism spectrum disorder
  2. aHeight < 3rd percentile
  3. bHeight > 98th percentile
  4. cHead circumference < 3rd percentile
  5. dHead circumference > 98th percentile