9q21.13 microdeletion syndrome
ORPHA: 531151
Overview
novel genetic disorder in which the q21.13 region of chromosome 9 is deleted, this deletion causes a variety of symptoms, including intellectual disability, developmental and speech delay, epilepsy, low muscle tone and moderate facial dysmorphy
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with 9q21.13 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismHydronephrosisGait disturbanceAbnormal heart morphologyGastrointestinal dysmotilityPtosisLong palpebral fissureDelayed speech and language developmentHip dysplasiaTalipesScoliosisDownturned corners of mouthInverted nipplesVertebral segmentation defectAplasia/Hypoplasia of the corpus callosumPostnatal growth retardationWide nasal ridgeAbnormal tongue morphologyAutistic behaviorSeizureCraniosynostosisGray matter heterotopiaSyringomyeliaPolydactyly
Classification & Codes
Orphanet Code
ORPHA:5311519q21.13 microdeletion syndrome
| Orphanet | ORPHA:531151 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO