hypomyelinating leukodystrophy 12
ORPHA: 466934
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 hypomyelinating leukodystrophy 12, sourced from HPO and Orphanet clinical annotations.
Abnormal periventricular white matter morphologyMultiple joint contracturesDiffuse white matter abnormalitiesOromotor apraxiaAbnormal autonomic nervous system physiologyCerebellar atrophyMicrocephalyIntellectual disabilitySeizureHypotoniaGlobal developmental delayCerebral visual impairmentNeurogenic bladderSensorineural hearing impairmentOptic atrophySpasticityAbsent speechGrowth delayConstipationHypoplasia of the corpus callosumVentriculomegalyDelayed CNS myelinationFebrile seizure (within the age range of 3 months to 6 years)Poor speech
Classification & Codes
Orphanet Code
ORPHA:466934hypomyelinating leukodystrophy 12
| Orphanet | ORPHA:466934 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO