C125418Level 6
Pseudotrisomy 13 Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** A rare syndrome likely inherited in an autosomal recessive pattern. It is characterized by holoprosencephaly, polydactyly, phenotypic features reminiscent of trisomy 13, and normal karyotype.
**Synonyms:** - Holoprosencephaly-Polydactyly Syndrome
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