non-distal monosomy 10q
Findings
No curated finding names non-distal monosomy 10q yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0015546), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Strabismus
Show the remaining 3
- PtosisHPOHP:0000508
- Occasional (5% to 29% of cases)
- SynophrysHPOHP:0000664
- Occasional (5% to 29% of cases)
- Wide nasal bridgeHPOHP:0000431
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: non-distal monosomy 10q
- Also called
- non-distal deletion 10qnon-distal monosomy type 10qnon-telomeric monosomy 10q