12q14 microdeletion syndrome

ORPHA: 94063

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

gene: mutations in this gene have already been implicated in osteopoikilosis

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 12q14 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.

Horseshoe kidneyEctopic kidneyRenal hypoplasiaThin vermilion borderMicrocephalyHypertelorismTriangular faceMicrognathiaProminent nasal bridgeWide noseDeeply set eyeThick eyebrowSynophrysHypodontiaDelayed speech and language developmentDiabetes mellitusHyperpigmentation of the skinHypotoniaMild intellectual disabilityGlobal developmental delaySpecific learning disabilityTremorSubcutaneous noduleFailure to thriveIntrauterine growth retardationAbnormality of the spleenFrontal bossingChiari malformationIntestinal malrotationScoliosisDownturned corners of mouthSkeletal muscle atrophySyringomyeliaClinodactyly of the 5th fingerShort statureAbnormal nostril morphologyOsteopoikilosis

Classification & Codes

Orphanet Code

ORPHA:94063

12q14 microdeletion syndrome

Orphanet	`ORPHA:94063`
Treatments	0 drug(s)
Symptoms on record	37 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO