A neurodevelopmental disorder caused by mutation in ESAM gene. It is characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage.
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microcephaly and chorioretinopathy
MONDO:0000181
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
MONDO:0007918
autosomal dominant primary microcephaly
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Prader-Willi syndrome
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Smith-Magenis syndrome
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microcephalic osteodysplastic primordial dwarfism type I
MONDO:0008871