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severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

ORPHA: 94066

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 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia, sourced from HPO and Orphanet clinical annotations.

Cleft palateMalar flatteningMandibular prognathiaShort philtrumSeizureHypotoniaPlagiocephalyVentricular septal defectHypoplastic toenailsDownturned corners of mouthAplasia/Hypoplasia of the distal phalanges of the handHypertelorismHighly arched eyebrowEctopic anusAplasia/Hypoplasia of the distal phalanges of the toesSevere intellectual disability

Classification & Codes

Orphanet Code

ORPHA:94066
severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
OrphanetORPHA:94066
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO