Genetic variant | Clinical manifestations | ||||||||
---|---|---|---|---|---|---|---|---|---|
Endocrine | Ectodermal | Neurological | Ocular | ||||||
Hypogonadism | Diabetes mellitus | Hypothyr-oidism | Alopecia | Deafness | Intellectual disability | Extrapyramidal features | Keratoc-onus | Myopia | |
c.1423‐1_1425delGACA | 5/5 (100%) | 2/5 (40%) | – | 5/5 (100%) | 5/5 (100%) | 5/5 (100%) | 1/5 (20%) | – | – |
c.270dup | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | – | 1/1 (100%) | 1/1 (100%) | – | – | – |
c.1091 + 1G > A | 1/1 (100%) | 1/1 (100%) | – | 1/1 (100%) | – | 1/1 (100%) | – | – | – |
c.270delA | 4/4 (100%) | – | – | 4/4 (100%) | 2/4 (50%) | – | – | – | – |
c.127-3delTAGinsAA | 1/1 (100%) | – | 1/1 (100%) | 1/1 (100%) | – | 1/1 (100%) | 1/1 (100%) | – | – |
c.321 + 1G > A | 6/6 (100%) | – | – | 6/6 (100%) | 6/6 (100%) | 6/6 (100%) | 3/6 (50%) | – | – |
c.436delC | 133/133 (100%) | 38/133 (28%) | 27/133 (20%) | 76/133 (57%) | 49/133 (37%) | 72/133 (54%) | 46/133 (34%) | 54/133 (41%) | 56/133 (42%) |
c.1A > G | 2/2 (100%) | – | – | – | 2/2 (100%) | 1/2 (50%) | – | – | – |
c.1091 + 2 T > C | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | – | – |
c.1488_1489delAG | 2/2 (100%) | 2/2 (100%) | 2/2 (100%) | 2/2 (100%) | – | 2/2 (100%) | – | – | – |
c.1111delA | 2/2 (100%) | 2/2 (100%) | 2/2 (100%) | 2/2 (100%) | – | 2/2 (100%) | – | – | – |
c.906 G > A | 3/3 (100%) | 2/3 (66%) | – | 3/3 (100%) | 2/3 (66%) | 3/3 (100%) | 2/3 (66%) | – | – |
c.1238delA | 3/3 (100%) | 3/3 (100%) | – | 3/3 (100%) | 3/3 (100%) | 3/3 (100%) | – | – | – |
c.459- 7_499del | 3/3 (100%) | 3/3 (100%) | – | 3/3 (100%) | 3/3 (100%) | 3/3 (100%) | – | – | – |