Bilateral microtia

Gene: KDM6A

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

Inheritance:X-linked dominant

Created: 9 Feb 2016, 5:16 p.m.

Mode of inheritance
Other

Phenotypes
#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]

Publications

• PMID:17178841
• 17713478
• 17761849
• 17851529
• 19330029
• 22197486
• 22801502
• 22842901
• 23076834
• 23913813
• 24633898
• 24664873
• 25972376
• 9499428

Red List (low evidence)