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Table 1 Clinical features of six Galloway-Mowat syndrome (GAMOS) patients

From: Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype

Patient I II III-1 III-2 IV V
Gender Female Female Male Female Male Male
GA at birth 39 weeks 38 weeks 37 weeks 40 weeks 36 weeks 38 weeks
Birth weight 2460 g (<5th percentile) 1954 g (<5th percentile) 2118 g (<5th percentile) 2496 g (<5th percentile) 2345 g (<5th percentile) 2340 g (<5th percentile)
Prenatal findings
 IUGR + + + + + +
 Oligohydramnions (GA) + (at 38 weeks) + (at 32 weeks) + (at 27 weeks) + (at 34 weeks) + (at 35 weeks)
 Microcephaly + + + + + +
 Abnormal ultrasound findings
 Fetal MRI + +
Neurological involvement
 Primary microcephaly + + + + + +
 Hypotonia + + + + + +
 Developmental delay + + + + + +
 Seizures + + + + +
Cranial imaging MRI CT MRI MRI MRI CT
 Gyral defects (pachygyria) + + + + + +
 Myelination defects/leukoencephalopathy + + + +
 Cerebellar atrophy +
Renal involvement
 Nephrotic syndrome (Onset) 6 weeks 1 month (proteinuria at 2 days) 1 month 6 days 10 days 1 month
Facial dysmorphism
 Large/floppy ears + + + + + +
 Micrognathia + + + + + +
 Hypertelorism + + + + + +
 Microphthalmia + + + + + +
 Sunken eyeballs + + + + + +
 Narrow/receding forehead + + + + + +
 Beak nose + + + + + +
 Prominent glabella/ Broad nasal bridge + + + + + +
 High arch palate + + + + +
Skeletal features
 Arachnodactyly or camptodactyly + + + + + +
 Death (Age) 3 mon 1 year 9 mon 5 mon 3 mon 3 mon 2 mon
 Other abnormalities    Cryptorchidism, Micropenis, Ectopic kidney   Micropenis Micropenis
  1. +, Yes; −, No; d Days, GA Gestational age, IUGR Intrauterine growth restriction, mon Months