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pili torti-developmental delay-neurological abnormalities syndrome

MeSH: C537398ORPHA: 2891

Contents

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

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 pili torti-developmental delay-neurological abnormalities syndrome, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityAtaxiaGlobal developmental delayGrowth delayPili tortiAbnormality of hair textureAplasia/Hypoplasia of the eyebrowSparse or absent eyelashesHypotoniaGait disturbance

Classification & Codes

MeSH Code

C537398

Orphanet Code

ORPHA:2891
pili torti-developmental delay-neurological abnormalities syndrome
MeSHC537398
OrphanetORPHA:2891
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
pili torti-developmental delay-neurological abnormalities syndrome | OrphanDrug