Non-ketotic hyperglycinaemia (2) | Cortical dysplasia (1) | Willi-Prader syndrome* (1) | Non-immune hydrops fetalis* (1) |
Ornithine transcarboxylase | Congenital post-haemorrhagic hydrocephalus (1) | Costello syndrome (1) | Intrauterine growth retardation (3)* |
deficiency (1) | Unilateral absent kidney, megaloureter, ventriculomegaly (1) | Benign familial neonatal seizures (1) | Early onset hypocalcaemia (1) |
| Cerebro-oculofacial skeletal syndrome (1) | | |
| Facial dysmorphism, microcephaly (1) | | |
| Facial dysmorphism, dysmorphic fingers, hypospadias* (1) | | |
| Pierre Robin syndrome, hypoplasia of the corpus callosum* (1) | | |
| Dysgenesis of the corpus callosum* (1) | | |
| Pierre Robin syndrome, atrophied brainstem* (1) | | |
| Epileptic encephalopathy (1) | | |