19p13.12 microdeletion syndrome
ORPHA: 254346
Overview
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
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 19p13.12 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismHypospadiasCleft palateThin vermilion borderBrachycephalyMicrocephalyEpicanthusHypertelorismBroad foreheadLong philtrumLow-set earsConductive hearing impairmentSensorineural hearing impairmentNarrow nasal bridgeAnteverted naresShort neckStrabismusProptosisMyopiaNystagmusSynophrysHypodontiaDelayed speech and language developmentHyperactivityHypothyroidismPrecocious pubertySeizureHypotoniaGlobal developmental delayCraniosynostosisHepatic steatosisIntrauterine growth retardationObesityVentricular septal defectAtrial septal defectMitral regurgitationAortic regurgitationSandal gapToe clinodactylyDeep plantar creasesHypoplasia of the corpus callosumVentriculomegalyGeneralized hirsutismScoliosisArthrogryposis multiplex congenitaKyphosisHyperlipidemiaClinodactyly of the 5th fingerShort palmFinger syndactylyDeep palmar creaseAplasia/Hypoplasia of the cerebellar vermisArrhythmiaSelf-injurious behaviorAbnormal pinna morphology
Classification & Codes
Orphanet Code
ORPHA:25434619p13.12 microdeletion syndrome
| Orphanet | ORPHA:254346 |
| Treatments | 0 drug(s) |
| Symptoms on record | 55 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO