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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