microcephaly-brain defect-spasticity-hypernatremia syndrome
ORPHA: 2523
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 microcephaly-brain defect-spasticity-hypernatremia syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalySpasticityHoloprosencephalyAbnormality of metabolism/homeostasisCerebral cortical atrophyCognitive impairment
Classification & Codes
Orphanet Code
ORPHA:2523microcephaly-brain defect-spasticity-hypernatremia syndrome
| Orphanet | ORPHA:2523 |
| Treatments | 0 drug(s) |
| Symptoms on record | 6 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO