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Metadata
ID DOID:0060408
Name chromosome 19q13.11 deletion syndrome
Definition A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties.
https://pubmed.ncbi.nlm.nih.gov/24243649
Xrefs

GARD:10592

MESH:C567810

OMIM:613026

ORDO:217346

UMLS_CUI:C2751651

Subsets

DO_rare_slim

Synonyms

19q13.11 microdeletion syndrome [EXACT]

monosomy 19q13.11 [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

is_a autosomal dominant disease

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