Table 1 Summary of the patients' clinical signs and symptoms.
| Clinical characteristic | Patient | |
|---|---|---|
| SD600 | SD840 | |
| Sex | Male | Male |
| Dysmorphism | ||
| Broad low nasal bridge | Yes | Yes |
| Bulbous nasal tip | Yes | Yes |
| Microdontia | Yes | Yes |
| Hyperpigmented macules | Yes | Yes |
| Lumbar lordosis | Yes | Yes |
| Protuberant abdomen | Yes | Yes |
| Skeleton and growth | ||
| Poor growth | Yes | Yes |
| Disproportionate short stature | Yes | Yes |
| Spondyloepiphysial dysplasia | Yes | Yes |
| Degenerative hip disease | Yes | Yes |
| Development | ||
| Normal cognitive, motor, language, social development | Yes | Yes |
| Normal school performance | Yes | Yes |
| Endocrinology | ||
| Raised level of thyroid‐stimulating hormone | No | No |
| Haematology | ||
| Lymphopenia | Yes | Yes |
| Neutropenia | Yes | No |
| Anaemia | Yes | No |
| Thrombocytopenia | Yes | No |
| Immunology | ||
| Recurrent infections | No | Yes |
| Circulating T cell deficiency | Yes | Yes |
| Circulating B cell deficiency | No | NC |
| Hypogammaglobulnaemia | Yes | No |
| Nephrology | ||
| FSGS | Yes | Yes |
| Progressive renal failure | Yes | Yes |
| Renal transplant | Yes | Yes |
| Donor age (years) | 46 | 15 |
| Hypertension before transplant | Yes | Yes |
| Hypertension after transplant | Yes | Yes |
| Neurology | ||
| TIAs | Yes | Yes |
| Strokes | Yes | No |
| Migraines | No | Yes |
| Pulmonary | ||
| Pulmonary hypertension | Yes | Yes |
| Dyspnoea | No | Yes |
| Genetics | ||
| Normal karyotype | Yes | NC |
| SMARCAL1 mutations | ||
| Paternal allele | 2542G→T E848X | 1248‐9insC T417fs427X |
| Maternal allele | 2542G→T E848X | 2104T→G F702V |
FSGS, focal segmental glomerulosclerosis; NC, not countable; SMARCAL1, swi/snf‐related matrix‐associated actin‐dependent regulator of chromatin, subfamily a‐like 1; TIA, transient ischaemic attack.