X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
ORPHA: 423479
Overview
#945;-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination
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-limb spasticity-retinal dystrophy-diabetes insipidus syndrome, sourced from HPO and Orphanet clinical annotations.
Aplasia/Hypoplasia of the optic nerveAxial hypotoniaGastrostomy tube feeding in infancyDelayed myelinationProfound global developmental delaySlow pupillary light responseClonusBabinski signProlonged neonatal jaundiceCentral sleep apnea5-minute APGAR score of 11-minute APGAR score of 0Profound intellectual disabilityDolichocephalyHypertelorismLow-set earsSensorineural hearing impairmentUnderdeveloped nasal alaeDeeply set eyeOptic disc pallorRetinal dystrophyExotropiaDiabetes insipidusMacular pseudocolobomaSpastic tetraparesisIntrauterine growth retardationSevere failure to thriveBilateral tonic-clonic seizureHypoplasia of the corpus callosumLimb hypertoniaShort statureElevated amniotic fluid alpha-fetoproteinHyperactive deep tendon reflexesUndetectable visual evoked potentials
Classification & Codes
Orphanet Code
ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
| Orphanet | ORPHA:423479 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO