| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000340 | Sloping forehead | "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators] |
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| HP:0000426 | Prominent nasal bridge | |
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| HP:0002349 | Simple partial seizures | "A `partial seizure` (HP:0007359) in which consciousness is maintained." [HPO:probinson] |
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| HP:0002384 | Complex partial seizures | "A `partial seizure` (HP:0007359) characterized by impairment or loss of consciousness." [HPO:curators] |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0006818 | Type I lissencephaly | |
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| HP:0006891 | Thick cerebral cortex | |
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| HP:0007334 | Partial seizures with secondary generalization | "`Partial seizures` (HP:0007359) with secondary evolution into a `generalized seizures` (HP:0002197)." [HPO:probinson] |
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| HP:0011158 | Auditory auras | "Auras with sensations of buzzing, drumming sounds or single tones." [HPO:jalbers] |
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