midline interhemispheric variant of holoprosencephaly
ORPHA: 93926
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 midline interhemispheric variant of holoprosencephaly, sourced from HPO and Orphanet clinical annotations.
Axial hypotoniaAbnormality of the eyeHypotelorismFailure to thriveGrowth delayPoor suckShort statureFeeding difficultiesMedian cleft upper lipCleft palateBifid uvulaHigh palateMicrocephalySensorineural hearing impairmentDepressed nasal ridgeAtypical behaviorDepressionIrritabilityAnxietyApathyIntellectual disabilitySeizureLethargySpasticitySpecific learning disabilityAbsent speechVomitingDysphagiaConstipationGastroesophageal refluxAbnormality of the autonomic nervous systemAbnormal brainstem morphologyLimb dystoniaInability to walkAbnormal pattern of respirationCentral apneaTemperature instabilityChronic lung diseaseSleep-wake cycle disturbanceAttention deficit hyperactivity disorderOromotor apraxiaFloppy infantAplasia of the falx cerebriAbnormal central motor functionAspiration pneumoniaAbnormal hypothalamus physiologyAbnormal morphology of the olfactory bulbNeural tube defectCerebral visual impairmentAbnormality of the genitourinary systemHydrocephalusMacrocephalyAbnormality of the endocrine systemDecreased response to growth hormone stimulation testPanhypopituitarismDiabetes insipidusAbnormality of the skeletal systemAgenesis of corpus callosumFlexion contractureAbnormal heart morphologyPoor speechScoliosisHip dislocationSolitary median maxillary central incisorCyclopiaSingle narisGastrostomy tube feeding in infancyCentral hypothyroidismAbnormal gastrointestinal tract morphologyProboscisAbnormal heart rate variabilityAbnormality of limbs
Classification & Codes
Orphanet Code
ORPHA:93926midline interhemispheric variant of holoprosencephaly
| Orphanet | ORPHA:93926 |
| Treatments | 0 drug(s) |
| Symptoms on record | 72 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO