microcephaly with or without chorioretinopathy, lymphedema, or mental retardation

Term ID

DOID:0060349

Synonyms

• chorioretinal dysplasia-microcephaly-mental retardation syndrome
• lymphedema and retinal folds with ficrocephaly and microphthalmos
• lymphedema, microcephaly and chorioretinopathy syndrome
• microcephaly lymphedema chorioretinal dysplasia
• microcephaly, lymphedema, chorioretinal dysplasia syndrome

Definition

A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. (4)

References

• MESH:C537711
• OMIM:152950
• ORDO:2526
• UMLS_CUI:C1835265

Ontology

Human Disease   ( DOID:0060349 )