Characteristic | Gene |
Microcephaly | ATRX, MECP2, PQBP1, SMCX |
Cleft lip and palate | PQBP1 |
Congenital heart disease | PQBP1 |
Spastic paraplegia | SLC16A2, ATRX, SMCX, MECP2 |
Seizures | AGTR2, SYN1, ATRX, SLC6A8, ARX, SMCX |
Absent speech | ATRX, SLC16A2, SLC6A8 |
Cerebellar hypoplasia | OPHN1 |
Short stature | PQBP1, SMCX |
Autistic behaviour | NLGN3, NLGN4, AGTR2, SLC6A8 |
Dystonia | ARX |
Hypertelorism | RSK2 |
Scoliosis | RSK2, ATRX |
Abnormal thyroid function | SLC16A2 |