Table 1 Common clinical manifestation of NSD2 truncating mutation cases

Total number of patients

10

> 300

Intellectual disability/Developmental delay

100% (10/10)

> 75%

Ear abnormal

88% (7/8)

> 75%

Hypertelorism

86% (6/7)

> 75%

High-arched eyebrows

86% (6/7)

> 75%

Wide nasal bridge

86% (6/7)

> 75%

Abnormal teeth^a

86% (6/7)

50–75%

Hypotonia

80% (8/10)

> 75%

Intrauterine/postnatal growth retardation

80% (8/10)

> 75%

Feeding difficulties

78% (7/9)

> 75%

Microcephaly^a

60% (6/10)

> 75%

Micrognathia^a

57% (4/7)

> 75%

Epicanthal folds^a

57% (4/7)

> 75%

Downturned corners of mouth^a

57% (4/7)

> 75%

Skeletal anomalies

50% (3/6)

50–75%

Short philtrum^a

43% (3/7)

> 75%

Stereotypies (hand washing/flapping, rocking)

33% (2/6)

25–50%

Prominent glabella^a

29% (2/7)

> 75%

Craniofacial asymmetry^a

29% (2/7)

50–75%

High forehead^a

25% (2/8)

> 75%

Hearing loss

25% (1/4)

25–50%

Skin changes (hemangioma; marble/dry skin)^a

20% (1/5)

50–75%

Genitourinary tract anomalies^a

17% (1/6)

25–50%

Gut anomalies

17% (1/6)

< 25%

Esophagus anomalies

17% (1/6)

< 25%

Structural brain anomalies^a

14% (1/7)

25–50%

Liver anomalies

14% (1/7)

< 25%

Seizures and/or distinctive Electroencephalogram abnormalities^a

11% (1/9)

> 75%