| Phenotype details |
see paper; ..., no abnormalities during pregnancy; normal vaginal delivery although fetal distress and meconium staining, spent 1 week on neonatal unit for hypoglycaemia and tremors; birth 41w+3; developmental delay; motor delay; speech delay, non-verbal; 5w-epilepsy, severe treatment refractory epilepsy, with shaking of one hand, developed myoclonic jerks and extensor movements; 4m-EEG showed hypsarrhythmia; truncal hypotonia; no spasticity; no ataxia; no behavioral disturbances; sleeps a lot; 4m-CT brain enlargement of the lateral and third ventricles and the cortical sulci particularly over the surface of the left hemisphere, appearance of cerebellum indicative of maldevelopment with volume loss more marked on the left side. MRI brain at 3y normal myelination but with enlargement of the ventricles.; regression, smiled at age 1y, but by 13 years would only smile after getting lots of attention; no other neurological abnormalities; no facial dysmorphisms; yellow teeth with obvious enamel abnormalities; small discoloured teeth, microscopy of a maxillary premolar showed features consistent with ameleogenesis imperfecta, hypomineralised type; drooling, dysphagia; no hearing abnormalities; normal ERG; no cardiac abnormalities; small hands and feet; no hypermobility joints; 11y-lactose intolerance; gastrostomy-fed; recurrent urinary tract infections; 3y-elevated proline, reduced glutamine and glutamate on CSF; moderate eczema, recurrent urinary tract and chest infections, deceased in 2009 due to severe pneumonia; eczema; no neoplasms; normal serum alkaline phosphatase levels |
