Table 1. Clinical features of 35 individuals with SNIP1-related disorder.
| Mean age in years (range) | 6.9 (0.2–26) | |
| Neurological phenotype | (% affected) | |
| Global developmental delay (severe, non-verbal) | 100% | |
| Hypotonia | 100% | |
| Hyporeflexia | 100% | |
| Seizures | 100% | |
| Abnormal brain MRI (ventriculomegaly, white matter defects) | 50% | |
| Behavioural problems (irritability, autistic features, ADHD) | 75% | |
| Cardiopulmonary features | ||
| Upper airway abnormalities (laryngomalacia, apnoea, stridor) | 75% | |
| Congenital heart defects (ASD, VSD, aortic coarctation) | 60% | |
| Cardiomyopathy | 12% | |
| Visual and hearing phenotype | ||
| Horizontal nystagmus and/or strabismus | 45% | |
| Failed newborn hearing screen (conductive loss) | 21% | |
| Gastroenterological features | ||
| Feeding difficulties | 100% | |
| Small for gestational age | 54% | |
| Pulmonary aspiration with/without gastrostomy tube | 46% | |
| Endocrine phenotype | ||
| Hypothyroidism | 25% | |
| Hypoglycaemia | 21% | |
| Dysmorphic features | ||
| Abnormal skull shape (irregular surface, craniosynostosis) | 100% | |
| High arched palate | 100% | |
| Wide mouth with cupids bow upper lip | 100% | |
| Micrognathia with/without Pierre Robin sequence | 30% | |
| Short hands with tapered fingers | 54% | |
| Spinal abnormalities (scoliosis, sacral dimple, tethered cord) | 21% | |
| Hernias (umbilical, inguinal) | 21% | |
| Congenital talipes equinovarus | 13% | |
Abbreviations: MRI; magnetic resonance imaging, ADHD; attention deficit hyperactivity disorder, ASD; atrial septal defect, VSD; ventricular septal defect.