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    J Med Genet. 1990 May;27(5):339-40.

    Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.

    Source

    Division of Human Genetics, University of Newcastle upon Tyne.

    Abstract

    The proband, the first child of unrelated parents, was noted in infancy to have microcephaly, developmental delay, dysmorphic facies, hypotonia, a small penis with cryptorchidism, and a fixed flexion deformity of his left index finger. His maternal uncle is severely retarded and has similar dysmorphic facies.

    PMID:
    2352265
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC1017089
    Free PMC Article

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