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 |