Table 2 Detailed phenotype in the family of patient 4
Proband | Sister | Mother | Father | |
|---|---|---|---|---|
CHD7 RSVs | [A1107V]; [WT] | [A1107V];[M340V] | [A1107V];[WT] | [WT];[M340V] |
CHARGE major signs | ||||
Coloboma | − | − | − | − |
Choanal atresia | − | − | − | − |
Semicircular canal dysplasia | + | + | + | − |
CHARGE minor signs | − | |||
Rhombencephalic dysfunction | − | + | + | − |
Ear anomalies | − | − | − | − |
Intellectual disability | − | − | − | − |
Hypothalamic–pituitary dysfunction | + | + | − | − |
Malformation mediastinal organs | + | + | − | − |
CHH associated phenotypes | − | |||
Synkinesia | + | + | − | − |
Scoliosis | + | + | + | − |
Renal defect | − | + | − | − |
Diagnosis summary | KS with multiple CHARGE features | Atypical CHARGE syndrome | Normal reproduction with CHARGE features | Unaffected |
