Galloway–Mowat Syndrome 6 (GAMOS6)
Key manifestations include
Neurological:
• Primary or secondary microcephaly
• Developmental delay or intellectual disability
• Seizures
• Cerebellar atrophy, abnormal gyration
• Variable spasticity or hyperreflexia
Renal:
• Proteinuria, often early onset
• Congenital or childhood-onset nephrotic syndrome
• Podocyte foot-process effacement
• Focal segmental glomerulosclerosis
• Progression to end-stage renal disease is common
Other Features:
• Facial dysmorphism
• Growth retardation
• Skeletal anomalies (e.g., delayed bone age)
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations (MIGSB)
Main features include
Growth:
• Severe intrauterine and postnatal growth restriction
• Growth faltering
Neurological:
• Severe congenital microcephaly (down to −10 SD)
• Seizures, often difficult to control
• Profound developmental delay; absence of motor and cognitive milestones
• Spasticity, hyperreflexia, contractures
• Partial agenesis of corpus callosum
• Posterior-predominant abnormal gyral pattern
• Abnormal EEG
• Bilateral optic atrophy and absent visual fixation
Dysmorphic & Other Findings:
• High forehead, prominent eyes, depressed nasal bridge
• Short philtrum, tented upper lip, prominent alveolar ridge
• Short long bones with broad metaphyses; unossified pubic bones
• Need for tube feeding in some patients
WDR4