| 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:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001342 | Cerebral hemorrhage | "A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0002170 | Intracranial hemorrhage | "A hemorrhage (bleeding) occuring within the skull." [HPO:curators] |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002516 | Increased intracranial pressure | |
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| HP:0002572 | Episodic vomiting | "Paroxysmal, recurrent episodes of vomiting." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002858 | Meningioma | |
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| HP:0003011 | Abnormality of musculature | "Abnormality originating in one or more muscles." [HPO:curators] |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0006576 | Hepatic vascular malformations | |
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| HP:0007797 | Retinal vascular malformations | |
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| HP:0007872 | Choroidal hemangiomata | |
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| HP:0011276 | Vascular skin abnormality | |
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| HP:0011513 | Retinal cavernous angioma | "A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a cluster of grapes appearance." [HPO:probinson, pmid:20844673] |
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| HP:0012721 | Venous malformation | "A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region." [HPO:probinson] |
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| HP:0012748 | Focal T2 hyperintense brainstem lesion | "A lighter than expected T2 signal on magnetic resonance imaging (MIR) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem." [UToronto:htrang] |
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| HP:0012749 | Focal T2 hypointense brainstem lesion | "A darker than expected T2 signal on magnetic resonance imaging (MIR) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem." [UToronto:htrang] |
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| HP:0030430 | Neuroma | "A tumor made up of nerve cells and nerve fibers." [HPO:probinson] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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| HP:0100561 | Spinal cord lesions | |
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