Table 1 Phenotypic manifestations of the present patient with the p.A48G variant and summary of previously reported cases.
From: Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant
| Â | Summery by Layo-Carris et al.3 | This case |
|---|---|---|
Demographics | ||
 Age | 2 months - 39 years | 20 years |
 Sex | Males/Females = 47/49 | female |
Growth | ||
 Height (>95th percentile) | 6/91 (7%) | - |
 Height (≤5th percentile) | 32/91 (35%) | - |
 Weight (>95th percemtile) | 14/76 (18%) | - |
 Weight (≤5th percemtile) | 15/76 (20%) | - |
 Macrocephaly (≥95th percentile) | 14/95 (15%) | - |
 Microcephaly (≤５th percentile) | 30/95 (32%) | + |
 Craniofacial anomalies | 86/93 (92%) | + |
 Neuroimaging findings | 44/76 (58%) | - |
Neurodevelopment | ||
 Developmental delay/intellectual disability | 94/95 (99%) | + |
 Seizures | 45/91 (49%) | + |
 Delayed/No sitting (>12 months) | 33/65 (51%) | - |
 Delayed/No walking (>20 months) | 59/75 (79%) | - |
 Speaks at least one word (>20 months) | 50/84 (60%) | - |
Muscle tone abnomalies | ||
 Hypotonia | 57/92 (62%) | - |
 Hypertonia | 11/92 (12%) | - |
 Axial hypotonia, peripheral hypertonia | 9/92 (10%) | - |
 Oculomotor | 49/90 (54%) | + |
  Strabismus | 32/90 (36%) | + |
  Astigmatism | 7/88 (8%) | - |
Review of systems | ||
 Musculoskeletal | 56/94 (60%) | - |
 Cardiac | 11/82 (13%) | - |
 Dermal | 46/88 (52%) | - |
 Genital | 17/85 (20%) | - |
