hereditary spastic paraplegia 49
ORPHA: 320385
Overview
hereditary spastic paraplegia that has material basis in mutation in the TECPR2 gene on chromosome 14q32
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 hereditary spastic paraplegia 49, sourced from HPO and Orphanet clinical annotations.
Recurrent respiratory infectionsBrachycephalyMicrocephalyFull cheeksLow anterior hairlineRound faceHypomimic faceShort neckBroad neckDental crowdingIntellectual disabilityDysarthriaGlobal developmental delayAreflexiaGeneralized hypotoniaDysmetriaGait ataxiaShort statureSeizureCerebellar atrophyCerebral atrophyHypoplasia of the corpus callosumCentral apnea
Classification & Codes
Orphanet Code
ORPHA:320385hereditary spastic paraplegia 49
| Orphanet | ORPHA:320385 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO