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Metadata
ID DOID:0060732
Name chromosome 9p deletion syndrome
Definition A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9.
https://www.ncbi.nlm.nih.gov/pubmed/18452192, https://www.ncbi.nlm.nih.gov/pubmed/4541805, https://www.ncbi.nlm.nih.gov/pubmed/6985017
Xrefs

ICD10CM:Q93.5

MESH:C538024

OMIM:158170

ORDO:261112

Subsets

DO_rare_slim

Synonyms

9p syndrome [EXACT]

Alfi syndrome [EXACT]

monosomy 9p syndrome [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

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