Table 1.
Summary table with the most relevant clinical features of our proband compared to patients with deletions of NRXN1 according to Brignell et al., 2018 and DECIPHER
| Cognitive/behavioural features | |
|---|---|
| Intellectual disability | + |
| Autism spectrum disorder | + |
| Attention deficit hyperactivity disorder | + |
| Schizophrenia | |
| Anxiety | |
| Speech impairment | + |
| Expressive language impairment | + |
| Receptive language impairment | + |
| Impaired pragmatics (social communication difficulties) | + |
| Brain/neurological findings | |
| Childhood apraxia of speech | + |
| Dysarthria | |
| Hypotonia | + |
| Epilepsy | |
| Complex neurodevelopmental disorder | + |
+, features present in our proband.