OrphanDrug
OrphanDrug
Pharma Knowledge Base

X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome

ORPHA: 85317

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 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome, sourced from HPO and Orphanet clinical annotations.

Cleft palateMandibular prognathiaHypertelorismShort philtrumProminent supraorbital ridgesProtruding earSynophrysHypertrichosisSeizureAtaxiaCerebellar atrophyGait disturbanceMuscle weaknessModerate intellectual disabilityProgressive neurologic deteriorationScoliosisKyphosisDecreased circulating immunoglobulin concentrationProminent metopic ridgeBilateral single transverse palmar creasesPeripheral neuropathy

Classification & Codes

Orphanet Code

ORPHA:85317
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
OrphanetORPHA:85317
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome | OrphanDrug