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intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

MeSH: C537447ORPHA: 3044

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 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome, sourced from HPO and Orphanet clinical annotations.

Long faceMandibular prognathiaWide noseDeeply set eyeGlobal developmental delayAbnormal facial shapeSparse pubic hairModerate intellectual disabilityCleft ala nasiEunuchoid habitusElevated circulating follicle stimulating hormone levelDecreased testicular sizeElevated circulating luteinizing hormone levelNarrow nasal baseDecreased serum testosterone concentrationType I diabetes mellitusBilateral tonic-clonic seizureFloppy infantBreast aplasiaHypoplasia of the maxillaFebrile seizure (within the age range of 3 months to 6 years)Pelvic girdle muscle atrophy

Classification & Codes

MeSH Code

C537447

Orphanet Code

ORPHA:3044
intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
MeSHC537447
OrphanetORPHA:3044
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO