Microcephaly-lymphedema-chorioretinopathy syndrome

Orpha code: 2526OMIM code: 152950

Definition

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

Disease data
Classification

Malformation syndrome

Synonyms
MLCRD
MLCRD
ORPHA code
2526
OMIM code
152950
ICD10 code
Q87.8
ICD11 code
BD93.0

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl