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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
X-linked lissencephaly with abnormal genitalia
X-linked lissencephaly with ambiguous genitalia · X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
Corpus callosum agenesis-abnormal genitalia syndrome
Proud syndrome · ACC-abnormal genitalia syndrome
Other syndrome with lissencephaly as a major feature
X-linked myotubular myopathy-abnormal genitalia syndrome
Xq28 contiguous gene deletion syndrome