Table 2

 Additional clinical features found in syndromic XLMR

Characteristic Gene
MicrocephalyATRX, MECP2, PQBP1, SMCX
Cleft lip and palatePQBP1
Congenital heart diseasePQBP1
Spastic paraplegiaSLC16A2, ATRX, SMCX, MECP2
SeizuresAGTR2, SYN1, ATRX, SLC6A8, ARX, SMCX
Absent speechATRX, SLC16A2, SLC6A8
Cerebellar hypoplasiaOPHN1
Short staturePQBP1, SMCX
Autistic behaviourNLGN3, NLGN4, AGTR2, SLC6A8
DystoniaARX
HypertelorismRSK2
ScoliosisRSK2, ATRX
Abnormal thyroid functionSLC16A2