Symptoms can vary, even within the same family.
Galloway–Mowat Syndrome type 6 – GAMOS6
Brain-related features
• Small head (microcephaly)
• Developmental delay
• Learning difficulties or intellectual disability
• Seizures
• Differences seen on brain imaging (MRI), such as abnormal folding or a smaller cerebellum
• Muscle stiffness or tightness (spasticity)
Kidney-related features
• Protein in the urine (proteinuria)
• Nephrotic syndrome (swelling, low protein levels in the blood)
• Kidney function may worsen over time
• Some children may need dialysis or kidney transplant
Other features
• Slow growth
• Facial features that may look different from other family members
• Bone or joint differences (such as delayed bone age)
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations – MIGSB
Growth
• Very slow growth before and after birth
• Difficulty gaining weight; may need feeding support
Brain and development
• Severe microcephaly (very small head )
• Significant delays in reaching developmental milestones
• Seizures, sometimes difficult to control
• Differences in brain structure (such as missing parts of the corpus callosum)
• Vision problems, often including optic atrophy
• Muscle stiffness and contractures
Other features
• Distinct facial features (high forehead, prominent eyes, full upper gum line)
• Short bones or other skeletal differences
• Little or no eye contact
• May not develop speech