primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
ORPHA: 391408
Overview
human disease
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 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyDiabetes mellitusIntellectual disabilitySmall for gestational ageProportionate short staturePrimary microcephalyDelayed pubertySeizureGlobal developmental delayIntrauterine growth retardationHypoglycemiaAbnormal facial shapePoor speechDecreased body weightNarrow mouthThin upper lip vermilionSmall faceNarrow faceEpicanthusFull cheeksLow anterior hairlineRound faceShort philtrumNarrow foreheadLong philtrumMicrognathiaMacrotiaSensorineural hearing impairmentWide noseAnteverted naresShort neckDownslanted palpebral fissuresBlue scleraeHypotelorismSynophrysOligodontiaHypoplasia of teethPectus excavatumHypothyroidismSlender fingerCerebellar hypoplasiaBrisk reflexesJoint hypermobilityAbnormally high-pitched voiceKetosisHypoplasia of the corpus callosumBroad-based gaitFine hairSpastic paraparesisHypoplasia of the brainstemDistal muscle weaknessScoliosisDownturned corners of mouthKyphoscoliosisShort noseSevere demyelination of the white matterSparse hairPes valgusSevere postnatal growth retardationAxial hypotoniaDeviation of the 5th toeSevere intellectual disabilitySlender toeDelayed myelinationDorsocervical fat padClinodactylyDown-sloping shoulders
Classification & Codes
Orphanet Code
ORPHA:391408primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
| Orphanet | ORPHA:391408 |
| Treatments | 0 drug(s) |
| Symptoms on record | 67 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO