Patient | Sex | Age at clinical evaluation | Mental retardation | Neurological abnormalities | Skeletal abnormalities | Urogenital findings | Gonadotrophin deficiency | Diagnostic criteria (table 1) | |
---|---|---|---|---|---|---|---|---|---|
Blake9 | Verloes11 | ||||||||
* Deceased. | |||||||||
Mental retardation: −: normal intelligence; +: mild MR; ++: moderate MR; +++: severe MR. | |||||||||
Neurological abnormalities: AC, agenesis of corpus callosum; ACC, atrophy of cerebral cortex; C, convulsions; CH, cerebellar hypoplasia; H, hydrocephaly. | |||||||||
Skeletal abnormalities: HV, hypoplastic vertebrae; K, kyphosis; S, scoliosis; T, triphalangeal thumb. | |||||||||
Urogenital anomalies: A, agenesis of one kidney; C, renal cysts; HK, horseshoe kidney; R, reflux. | |||||||||
1 | F | 17 | +++ | + | + | ||||
2 | F | 19 | ? | + | |||||
3 | F | 17 | + | + | + | + | |||
4 | F | 6 | + | + | + | ||||
5 | F | 6 | +++ | ||||||
6 | M | 10 | − | + | + | ||||
7 | F | 11 | ++ | S | + | + | |||
8 | M | 7 | +++ | HK | + | + | |||
9 | M | 4 | ? | ||||||
10 | M | <1 | ? | + | + | ||||
11 | F | <1 | ? | C | + | ||||
12 | M | Day 6* | ? | AC+CH | S+HV | + | |||
13 | M | 32 | +++ | HV | + | + | |||
14 | F | 35 | ++ | C | S | + | + | + | |
15 | F | 15 | + | + | + | ||||
16 | M | 19 | − | S | + | + | + | ||
17 | M | 19 | ++ | ACC | S | R | + | + | + |
18 | M | Day 12* | ? | + | + | ||||
19 | F | 5 | + | H | + | ||||
20 | M | Month 5* | ? | C | A | ||||
21 | M | 40 | +++ | + | + | + | |||
22 | F | 22 | ++ | H + C | R | + | + | + | |
23 | M | 19 | − | + | + | ||||
24 | F | Month 6* | ? | ||||||
25 | M | 1 | ? | + | + | ||||
26 | F | 11 | ++ | + | + | ||||
27 | F | Day 2* | ? | ||||||
28 | F | 5 | + | − | − | ||||
29 | M | 7 | ++ | + | |||||
30 | M | 3 | +++ | + | |||||
31 | M | Year 14* | ++ | + | + | ||||
32 | F | 12 | ++ | K | + | + | |||
33 | M | Week 5* | ? | + | |||||
34 | M | 6 | ? | ||||||
35 | M | 6 | ? | HK | + | + | + | ||
36 | M | 20 | +++ | C | + | + | + | ||
37 | M | <1 | ? | T | R | ||||
38 | F | Day 21* | ? | HK | + | ||||
39 | F | 3 | − | A | + | + | |||
40 | M | 20 | +++ | S | + | + | + | ||
41 | F | 10 | +++ | + | + | ||||
42 | F | <1 | ? | ||||||
43 | F | 26 | − | + | + | + | |||
44 | F | 20 | − | + | + | + | |||
Missense mutations | |||||||||
45 | F | 15 | − | + | + | ||||
46 | F | 15 | + | + | + | ||||
47 | F | 16 | − | C | HV | + |