14q12 microdeletion syndrome
ORPHA: 261144
Overview
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months
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 14q12 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
MacroglossiaEverted lower lip vermilionMicrocephalyEpicanthusMandibular prognathiaSmooth philtrumProtruding earBulbous noseDownslanted palpebral fissuresBlepharophimosisMotor stereotypySeizureHypotoniaAgenesis of corpus callosumAbsent speechGrowth delayGastroesophageal refluxDevelopmental regressionScoliosisKyphosisShort noseExcessive salivationDepressed nasal bridgeProminent metopic ridgeAbnormal antihelix morphologyTented upper lip vermilionSevere intellectual disabilityFeeding difficultiesPalpebral edema
Classification & Codes
Orphanet Code
ORPHA:26114414q12 microdeletion syndrome
| Orphanet | ORPHA:261144 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO