chromosome 1p36 deletion syndrome (DOID:0060410)
Alliance: disease page
Synonyms: 1p36 deletion syndrome; deletion 1p36; monosomy 1p36; subtelomeric 1p36 deletion
Alt IDs: OMIM:607872, MESH:C535362, NCI:C74983, ORDO:1606, UMLS_CUI:C1842870
Definition: A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.