" /> Beemer lethal malformation syndrome - CISMeF





Preferred Label : Beemer lethal malformation syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Hydrocephalus, cardiac malformation, dense bones, genital anomalies, thrombocytopenia, and dysmorphic facies;

Inheritance : Autosomal recessive;

Prefixed ID : 209970;

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27/07/2025


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