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:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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HP:0000238 | Hydrocephalus | |
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HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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HP:0000316 | Hypertelorism | |
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HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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HP:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] |
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HP:0001162 | Postaxial polydactyly (hands) | "Supernumerary digits located at the ulnar side of the hand." [HPO:curators] |
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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:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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HP:0001355 | Megalencephaly | "The presence of an unusually large, and usually malfunctioning brain." [HPO:curators] |
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HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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HP:0001653 | Mitral regurgitation | "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] |
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HP:0002119 | Ventriculomegaly | |
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HP:0002126 | Polymicrogyria | "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] |
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HP:0003577 | Onset at birth | |
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HP:0005105 | Abnormal nasal morphology | |
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HP:0005280 | Depressed nasal root and bridge | |
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HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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HP:0100542 | Abnormal localization of kidneys | |
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