Term Name: | chromosome 1p36 deletion syndrome |
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Synonyms: | 1p36 deletion syndrome, deletion 1p36, monosomy 1p36, subtelomeric 1p36 deletion |
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. |
Ontology: | Human Disease [DOID:0060410] ( DOID:0060410 ) |