neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
ORPHA: 363700
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 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion, sourced from HPO and Orphanet clinical annotations.
HypertelorismCafe-au-lait spotMacrocephalyCoarse facial featuresBroad neckAbnormality of the skeletal systemAxillary frecklingLarge handsHypotoniaSpecific learning disabilityJoint hypermobilityAbnormal heart morphologyLong footAbnormal facial shapeScoliosisAttention deficit hyperactivity disorderSpeech articulation difficultiesLisch nodulesProportionate tall statureBone cystNeurodevelopmental delayInguinal frecklingSubcutaneous neurofibromaBrain imaging abnormalityHigh palateLong faceEpicanthusFacial asymmetryNarrow foreheadLong philtrumMicrognathiaProtruding earHypotelorismPectus excavatumIntellectual disabilitySeizureGlobal developmental delayPes cavusProminent glabellaHypoplasia of the corpus callosumGenu valgumShort statureAbnormal dental pulp morphologyOptic nerve gliomaSpinal neurofibromaImpaired visuospatial constructive cognitionAbnormal renal morphologyThick vermilion borderNeurofibrosarcomaAbnormality of the sphenoid sinusHydronephrosisHydrocephalusSinusitisHemangiomaVentricular septal defectAtrial septal defectMitral valve prolapseHypertrophic cardiomyopathyPulmonic stenosisMitral regurgitationPatent foramen ovaleHeadacheKyphoscoliosisAbnormal tibia morphologyHyperlordosisRenal hypoplasia/aplasiaMaculeLower limb dysmetriaOssifying fibromaGranulomaSchwannoma
Classification & Codes
Orphanet Code
ORPHA:363700neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
| Orphanet | ORPHA:363700 |
| Treatments | 0 drug(s) |
| Symptoms on record | 71 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO