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microcephaly-deafness-intellectual disability syndrome

MeSH: C537326ORPHA: 2533

Contents

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

Overview

medical condition

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 microcephaly-deafness-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal palate morphologyEverted lower lip vermilionMicrocephalyEpicanthusFacial asymmetryMicrognathiaLow-set earsCupped earPreauricular skin tagSensorineural hearing impairmentProtruding earIntellectual disabilityProminent glabellaAbnormal speech patternShort stature

Classification & Codes

MeSH Code

C537326

Orphanet Code

ORPHA:2533
microcephaly-deafness-intellectual disability syndrome
MeSHC537326
OrphanetORPHA:2533
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
microcephaly-deafness-intellectual disability syndrome | OrphanDrug