Bilateral microtiaGene: KDM6A
Variants in this GENE are reported as part of current diagnostic practice
Created: 9 Feb 2016, 5:16 p.m.
Mode of inheritance
#300867:Kabuki syndrome 2 [Less than third centile; Less than third centile; Occipitofrontal circumference less than third centile; Prominent ears; Large auricle; Cupped ears (in some patients); Arched eyebrows; Sparse lateral eyebrows; Long palpebral fissure; Long eyelashes; Eversion of lateral third of lower eyelid; Strabismus; Broad and/or depressed tip of nose; Short columella; High-arched palate; Cleft palate (rare); Dental malocclusion; Hypodontia; Abnormal dentition; Neonatal teeth (rare); Congenital heart disease; Atrial septal defect (in some patients); Atrioventricular septal defect (rare); Pulmonary valve stenosis (rare); Hypoplastic right ventricle (rare); Aortic coarctation (in some patients); Areolar fullness in infancy; Feeding difficulties in infancy; Joint hyperlaxity; Persistent fetal fingertip pads; Brachydactyly (in some patients); Hirsutism; Long eyelashes Sparse lateral eyebrows; Developmental delay, mild to severe; Hypotonia; Seizures; Behavioral difficulties; Neonatal hypoglycemia]
This gene has been classified as Red List (Low Evidence).
KDM6A was added to Bilateral Microtiapanel. Sources: Expert list