Galloway-Mowat syndrome
MeSH: C537548ORPHA: 2065
Overview
autosomal recessive disease characterized by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome
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 Galloway-Mowat syndrome, sourced from HPO and Orphanet clinical annotations.
ProteinuriaNephrotic syndromeNephropathyAbnormality of the dentitionMicrocephalyHypertelorismMicrognathiaMacrotiaHypotelorismAdducted thumbSeizureHypotoniaGlobal developmental delayHypertoniaPachygyriaIntrauterine growth retardationPremature birthHiatus herniaAbnormality of neuronal migrationEEG abnormalityAqueductal stenosisShort statureHemiplegia/hemiparesisAbnormal intervertebral disk morphologyAbnormality of immune system physiologyCamptodactyly of fingerCognitive impairmentHypoplasia of the ear cartilage
Classification & Codes
MeSH Code
C537548Orphanet Code
ORPHA:2065Galloway-Mowat syndrome
| MeSH | C537548 |
| Orphanet | ORPHA:2065 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO