Bilateral microtia

Gene: KMT2D

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

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#147920:Kabuki syndrome 1 [Postnatal growth retardation; Microcephaly; Trapezoid philtrum; Large prominent ears; Recurrent otitis media in infancy; Posteriorly rotated ears; Hearing loss; Preauricular pit; Long palpebral fissures; Eversion of lateral third of lower eyelids; Thick eyelashes; Ptosis; Blue sclerae; Broad, arched eyebrows; Sparse eyebrows; Depressed nasal tip; Short nasal columella; Cleft palate; High-arched palate; Congenital heart defect; Ventricular septal defect; Atrial septal defect; Coarctation of aorta; Aspiration pneumonia; Feeding difficulties; Malabsorption; Intestinal malrotation; Anal stenosis; Imperforate anus; Anoperineal fistula; Small penis; Cryptorchidism; Crossed fused renal ectopia; Single fused kidneys; Ureteropelvic junction obstruction; Scoliosis; Vertebral anomalies; Congenital hip dislocations; Joint hyperextensibility; Short fifth finger; Increased digital ulnar loop and hypothenar loop patterns; Absent digital triradius c and/or d; Persistence of fingerpads; Cafe au lait spots; Hirsutism; Mental retardation; Seizures; Developmental delay; Hypotonia; Congenital hypothyroidism; Premature thelarche; Idiopathic thrombocytopenic purpura; Hemolytic anemia]

Publications

• PMID:11782551
• 12473749
• 20711175
• 21163964
• 21607748
• 21671394
• 21796119
• 22126750
• 23913813
• 24633898
• 25972376
• 26331536
• 9247308

Red List (low evidence)

'KMT2D' is the HGNC approved symbol for the previous symbol MLL2.

Created: 29 May 2015, 11:46 a.m.

Gene was originally described as MLL2 by expert.

Created: 29 May 2015, 11:44 a.m.