paternal 14q32.2 microdeletion syndrome
ORPHA: 254525
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 paternal 14q32.2 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentHypotoniaMotor delayShort footPostnatal growth retardationSmall handNeonatal hypotoniaIntrauterine growth retardationProminent foreheadAbnormality of the genitourinary systemMicrognathiaPosteriorly rotated earsPrecocious pubertyIntellectual disabilityObesityAbnormal heart morphologyDownturned corners of mouthRelative macrocephalyPoor fine motor coordinationFeeding difficulties in infancyClinodactylyAcromicria
Classification & Codes
Orphanet Code
ORPHA:254525paternal 14q32.2 microdeletion syndrome
| Orphanet | ORPHA:254525 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO