intellectual disability-severe speech delay-mild dysmorphism syndrome
ORPHA: 391372
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with intellectual disability-severe speech delay-mild dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentExpressive language delaySpeech articulation difficultiesProminent foreheadAbnormality of the genitourinary systemOpen mouthMandibular prognathiaHypertelorismRecurrent otitis mediaBroad nasal tipAbnormality of the eyeStrabismusDownslanted palpebral fissuresPtosisAbnormality of refractionAtypical behaviorAutistic behaviorShort attention spanAnxietySingle transverse palmar creaseSpasticityMotor delayFlexion contractureFailure to thriveAbnormal heart morphologyConstipationFrontal upsweep of hairModerate intellectual disabilityDownturned corners of mouthRecurrent upper respiratory tract infectionsShort noseProminent nasolabial foldOromotor apraxiaRepetitive compulsive behaviorSevere intellectual disabilityChin with horizontal creaseFeeding difficultiesThick vermilion borderBrain imaging abnormalityAbnormality of the kidneyMacrocephalyRetrognathiaBlepharophimosisAbnormality of the earNystagmusDiabetes mellitusHypothyroidismProminent fingertip padsSeizureHypotoniaMild intellectual disabilityRecurrent skin infectionsPulmonary arterial hypertensionEEG abnormalityAttention deficit hyperactivity disorderHypoplastic helicesAllergyOverweightClinodactylyDecreased circulating iron concentration
Classification & Codes
Orphanet Code
ORPHA:391372intellectual disability-severe speech delay-mild dysmorphism syndrome
| Orphanet | ORPHA:391372 |
| Treatments | 0 drug(s) |
| Symptoms on record | 60 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO