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ISCA-46743-Loss in Holoprosencephaly - NOT chromosomal
Level 3: Neurodevelopmental disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
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ISCA-46743-Loss in Severe microcephaly
Level 3: DNA repair disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
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ISCA-46743-Loss in Intellectual disability
Level 3: Neurodevelopmental disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
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