| 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:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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| HP:0000171 | Microglossia | |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000356 | Abnormality of the outer ear | "An abnormality of the outer ear, which is also known as `pinna` (FMA:56580 ) or auricle." [HPO:probinson] |
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| HP:0000368 | Low-set, posteriorly rotated ears | |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001291 | Abnormality of the cranial nerves | "Abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." [HPO:curators.] |
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| HP:0001360 | Holoprosencephaly | "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [gc:hpe] |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001696 | Situs inversus | "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators] |
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| HP:0002098 | Respiratory distress | |
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| HP:0002779 | Tracheomalacia | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0005349 | Hypoplasia of the epiglottis | |
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| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
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| HP:0008736 | Hypoplasia of penis | |
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| HP:0008749 | Hypoplastic larynx | |
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| HP:0009914 | Cyclopia | "Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose." [HPO:curators] |
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| HP:0009924 | Aplasia/Hypoplasia involving the nose | "Underdevelopment or absence of the nose or parts thereof." [HPO:curators] |
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| HP:0009939 | Mandibular aplasia | "Absence of the mandible." [HPO:curators] |
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| HP:0011386 | Narrow internal auditory canal | "Reduction in diameter of the internal auditory canal." [DDD:dfitzpatrick] |
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| HP:0012730 | Aglossia | "Absence of the tongue owing to a developmental abnormality." [HPO:probinson] |
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| HP:0100596 | Absent nares | |
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| HP:0100663 | Synotia | "A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw." [HPO:sdoelken] |
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| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | "Absence or underdevelopment of the eyebrow." [HPO:probinson] |
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