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X-linked intellectual disability, Cilliers type

ORPHA: 163971

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, Cilliers type, sourced from HPO and Orphanet clinical annotations.

Male hypogonadismCryptorchidismHypospadiasMicrocephalyProminent supraorbital ridgesMacrotiaProminent nasal bridgeDeeply set eyePsychosisHypergonadotropic hypogonadismIncreased circulating gonadotropin levelDelayed skeletal maturationClinodactyly of the 5th fingerMild intellectual disabilityFailure to thriveShort statureSmall nailAbnormal facial shapeAbsence of secondary sex characteristicsDecreased testicular sizeCoronal craniosynostosisParanoiaDecreased serum testosterone concentrationExcessive shynessSmall hand

Classification & Codes

Orphanet Code

ORPHA:163971
X-linked intellectual disability, Cilliers type
OrphanetORPHA:163971
Treatments0 drug(s)
Symptoms on record25 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO