Prenatal onset short stature | 17/17 | 0/8 | 17/25 |
Dysmorphology | | | |
Triangular face | 4/17 | 0/8 | 4/25 |
Broad nasal bridge | 10/17 | 3/8 | 13/25 |
Bulbous tip of nose | 10/17 | 2/8 | 12/25 |
Hair abnormalities | 5/17 | 1/8 | 6/25 |
Multiple lentigines | 14/17 | 3/8 | 17/25 |
High pitched voice | 5/17 | 0/8 | 5/25 |
Normal intelligence | 16/16 | 8/8 | 24/24 |
Spondyloepiphyseal dysplasia | 17/17 | 8/8 | 25/25 |
Cellular immune deficiency | 17/17 | 6/6 | 23/23 |
Renal | | | |
Nephrotic syndrome | 16/17 | 8/8 | 24/25 |
Global/focal segmental glomerulosclerosis | 10/13 | 4/5 | 14/18 |
Other | Corneal opacities (3), microdontia (1), coarse, low voice (1), autoimmune haemolytic anaemia with thrombocytopenia (2), autoimmune enteropathy (1), mesangioproliferative glomerulonephritis (1), ventricular septal defect (1) |