Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
ORPHA:1277Peripheral motor neuropathy-dysautonomia syndrome
ORPHA:2400Short stature-wormian bones-dextrocardia syndrome
ORPHA:2863X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
ORPHA:3055XK aprosencephaly syndrome
ORPHA:3469Young syndrome
ORPHA:3471