11q22.2q22.3 microdeletion syndrome
ORPHA: 444002
Overview
human disease
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 11q22.2q22.3 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
AnxietyHypotoniaGlobal developmental delayThin upper lip vermilionEpicanthusNarrow foreheadMicrognathiaPosteriorly rotated earsLow-set earsStrabismusPtosisMyopiaThick eyebrowCompulsive behaviorsShort attention spanDelayed speech and language developmentAutism with high cognitive abilitiesReduced eye contactHyperpigmentation of the skinHemangiomaBrachydactylySeizureMild intellectual disabilityDysarthriaObesityShort footHypoplasia of the corpus callosumDelayed gross motor developmentDroolingPoor head controlHigh, narrow palateClinodactyly of the 5th fingerDepressed nasal bridgeAttention deficit hyperactivity disorderBilateral single transverse palmar creasesEpidermal thickeningFeeding difficultiesAbnormal social behaviorDelayed myelinationNeurodevelopmental delayOral motor hypotoniaPapuleSmall handAtypical behavior
Classification & Codes
Orphanet Code
ORPHA:44400211q22.2q22.3 microdeletion syndrome
| Orphanet | ORPHA:444002 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO