Table 2

Distribution of holoprosencephaly (HPE) among all individuals

HPE typeProbands with SHH mutation, n (%)Individuals with SHH mutation, n (%)
Alobar27 (17%)42 (11%)
Semilobar36 (23%)41 (10%)
Lobar8 (5%)11 (3%)
HPE (type unknown)*12 (8%)38 (10%)
Microform42 (27%)167 (42%)
None0 (0%)29 (7%)
Not HPE (type unknown)2 (1%)22 (5%)
Unknown (no data)30 (19%)46 (12%)
Total157396
  • * HPE (type unknown): individuals identified with true HPE, which was not further categorised into specific type.

  • Not HPE (type unknown): individuals identified without HPE but not further described.

  • Unknown (no data): individuals without any clinical data available.