Table 1 Neurological findings in PORCN-patients
From: Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
Patient (reference) | (1) Bornholdt et al. [22] | (2) Vreeburg et al. [24] | (3) Kanemura et al. [18] | (4) Peters et al. [15] | (5) Brady et al. [34] | (6) Case reported girl | (7) Case reported boy | Frequency |
|---|---|---|---|---|---|---|---|---|
Sex | M | M | F | M | M | F | M | 5/7 |
Spina bifida | NR | − | + | − | − | NR | NR | 1/7 |
Myelomeningocele | NR | − | − | + | NR | NR | NR | 1/7 |
Epilepsy | + | − | + | − | NR | + | + | 4/7 |
Microcephaly | + | − | + | + | + | + | + | 6/7 |
Arnold-Chiari malformation | NR | − | − | + | NR | − | − | 1/7 |
Hydrocephalus | NR | − | − | + | NR | − | − | 1/7 |
Agenesis corpus callosum | NR | − | − | + | NR | − | − | 1/7 |
Thin corpus callosum with periventricular gliosis | − | − | − | − | − | + | − | 1/7 |
Cerebellar dysplasia | − | − | + | − | − | − | − | 1/7 |
Cerebral atrophy with myelination delay | − | − | − | − | − | − | + | 1/7 |
Intellectual disability | NR | NR | + | NR | NR | NR | NR | 1/7 |
Developmental delay | NR | NR | + | NR | NR | + | + | 3/7 |