Table 1 Comparison of the phenotype observed in the two study patients with WHS
Patient 1 (NM_001042424:exon13:c.2518+1G>A) | Patient 2 (NM_001042424:exon15:c.2803C>T:p.(R935*)) | |
|---|---|---|
Features exceeding 75% in frequency 3 | ||
Wide bridge of the nose continuing to the forehead | Yes | Yes (mild) |
Highly arched eyebrows | Yes (mild) | No |
Widely spaced eyes | Yes (mild, apparent) | No |
Microcephaly | Yes | Yes |
Distinct mouth | Yes | Yes |
Short philtrum | Yes | Yes |
Micrognathia | Yes | Yes (mild) |
IUGR/postnatal growth deficiency | Yes | Yes |
Intellectual disability | Yes | Yes |
Hypotonia | Yes | Yes |
Muscle hypotrophy | No | No |
Seizures | No | No |
Feeding difficulties | Yes | Yes |
Abnormal ears | Yes | Yes |
Features with 50–75% frequency | ||
Distinctive EEG abnormalities | ? | ? |
Skeletal anomalies | No | No |
Skin changes | No | No |
Craniofacial asymmetry | Yes (mild) | Yes |
Abnormal teething | Yes | Yes |
Ptosis | No | No |
Antibody deficiency | ? | ? |
Features with 25–50% frequency | ||
Heart defects | No | No |
Hearing defects | No | Yes |
Eye/optic nerve defects | No | No |
Cleft/lip palate | No | No |
Stereotypies | No | No |
Structural brain anomalies | No | No |
Genitourinary tract defects | No | No |
Features with less than 25% frequency | ||
Liver/gallbladder/gut/diaphragm/ | No | No |
esophagus/lung/aorta anomalies | No | No |
