Miller–Dieker syndrome

Also known as: 17p13.3 deletion syndrome

Lissencephaly with characteristic facies from 17p13.3 deletion.

Medical specialty: Genetics
Subspecialty: Genetics / Chromosomal disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: PAFAH1B1, YWHAE

Etiology & mechanism

Contiguous deletion of PAFAH1B1 and YWHAE.

Gene(s) involved (2)

PAFAH1B1YWHAE

Symptoms & signs (6)

feeding difficultyhypotonialissencephalyprominent foreheadseizuressevere intellectual disability

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.