non-distal monosomy 10q https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/non_distal_monosomy_10q non-distal monosomy type 10q Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. UMLS:C4749375 non-telomeric monosomy 10q non-distal deletion 10q MONDO:0015546 GARD:0018729 MEDGEN:1657787 Orphanet:1581 partial monosomy of the long arm of chromosome 10