An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.
Comprehensive, easy-to-understand information about this condition
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precocious puberty
MONDO:0000088
complex cortical dysplasia with other brain malformations
MONDO:0000904
imperforate anus
MONDO:0001046
microcephaly
MONDO:0001149
demyelinating disease
MONDO:0002562
hypospadias
MONDO:0005345