| 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: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:0000204 | Cleft lip | "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
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| HP:0000238 | Hydrocephalus | |
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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:0000331 | Small chin | |
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| HP:0001028 | Hemangiomas | "The presence of multiple hemangiomas. A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:curators] |
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| HP:0001269 | Hemiparesis | "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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| HP:0002170 | Intracranial hemorrhage | "A hemorrhage (bleeding) occuring within the skull." [HPO:curators] |
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| HP:0003764 | Abnormal or excess nevi | |
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| HP:0007359 | Partial seizures | "Recurrent partial `seizures` (HP:0001250). In a partial seizure, the electrical disturbance is limited to one part or side of the brain. That is, partial epilepsies are epileptic disorders in which clinical or laboratory findings disclose a localized origin of seizures." [HPO:curators] |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0011124 | Abnormality of epidermal morphology | "An abnormality of the morphology of the `epidermis` (FMA:70596)." [HPO:probinson] |
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| HP:0025167 | Fragmented elastic fibers in the dermis | "Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers." [] |
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| HP:0100494 | Abnormality of mast cells | "An abnormality of `mast cells` (CL:0000097)." [HPO:sdoelken] |
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| HP:0100699 | Scarring | |
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| HP:3000019 | Abnormality of buccal mucosa | "An abnormality of a buccal mucosa." [GOC:TermGenie] |
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