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holoprosencephaly-caudal dysgenesis syndrome

Disease Summary
Associated Targets ()

Mondo Description Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).
Mondo Term and Equivalent IDs
MONDO:0016299:  holoprosencephaly-caudal dysgenesis syndrome
Orphanet:2165: 
UMLS:CN201097: