Perinatal
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Intrauterine growth restriction (IUGR), oligohydramnios, unilateral multycystic dysplastic kidney
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Intrauterine growth restriction. Perinatal lethal by E14.5
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Mostly perinatal lethal by E14.5, IUGR
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Central nervous system
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Microcephaly, small cerebellar cortex, small cerebellum and hydrocephalus
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Dome shaped head, hydrocephalus, disorders of neuronal migration, small cerebellum
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Microcephaly, small and underdeveloped cerebellum, abnormalities in the cerebellar foliation pattern
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Heart (Gross)
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No phenotype
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Abnormal rounded shape of the heart, defect in the membranous portion of the ventricular system, narrowing of RVOT by hypertrophied muscle, malposition of the aorta to the right, overriding aorta
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Double outlet right ventricle and ventricular septal defect
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Heart (Microscopic)
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No phenotype
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Marked myocyte hypertrophy (increase in transverse myocyte diameter) from E12.5
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Cardiac myocyte hypertrophy
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Diaphragm
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Silent congenital diaphragmatic hernia
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Failure of the ventral wall closure including anterior congenital diaphragmatic hernia
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Other |
Bilateral undescended testicles, congenital hip dysplasia |
Retinal dysplasia with rosette formation |
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