Table 1 Clinical features
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Count features | |
|---|---|---|---|---|---|
Pathogenic variant | c.110G>A p.Arg37His | c.110G>A p.Arg37His | c.110G>A p.Arg37His | c.110G>A p.Arg37His | |
Inheritance | De novo | De novo | De novo | De novo | |
Age at examination | 9.5 y | 5 y 8 mo | 12 y | 17 mo | |
Development | |||||
Intellectual disability | Severe | Severe | Severe | Severe | 4/4 (100%) |
Speech delay | Severe | Severe | Severe | Severe | 4/4 (100%) |
Motor delay | Severe | Severe | Severe | Severe | 4/4 (100%) |
Congenital anomalies | |||||
Congenital heart defect | - | + | - | + | 2/4 (50%) |
Laryngomalacia | - | - | - | + | 1/4 (25%) |
Kidney anomalies | - | + | + | + | 3/4 (75%) |
Genital anomalies | + | - | + | - | 2/4 (50%) |
Neurological | |||||
Childhood hypotonia | + | + | + | + | 4/4 (100%) |
Hydrocephalus | + | + | +/- (ICP) | + | 4/4 (100%) |
Eye and ear abnormalities | |||||
CVI | + | + | - | + | 3/4 (75%) |
Myopia | + | ND | + | + | 3/3 (100%) |
Eye movement disorder | - | + | + | + | 3/4 (75%) |
Other eye problems | + | + | + | + | 4/4 (100%) |
Hearing loss | - | + | - | + | 2/4 (50%) |
Musculoskeletal | |||||
Brachycephaly | + | - | - | + | 2/4 (50%) |
Joint hypermobility | - | + | + | + | 3/4 (75%) |
Hip dysplasia | - | - | - | + | 1/4 (25%) |
Contractures | + | - | + | - | 2/4 (50%) |
Other | |||||
Obstructive sleep apnea | + | + | + | + | 4/4 (100%) |
Precocious puberty | - | + | - | N/A | 1/3 (33%) |
(History of) anemia | + | + | + | - | 3/4 (75%) |
Thrombocytopenia | - | - | - | + | 1/4 (25%) |
