| 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:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
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| HP:0000105 | Enlarged kidneys | |
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| HP:0000121 | Nephrocalcinosis | |
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| HP:0000150 | Gonadoblastoma | |
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| HP:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
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| HP:0000239 | Large fontanelles | "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators] |
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| HP:0000269 | Prominent occiput | |
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| HP:0000280 | Coarse facial features | |
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| HP:0000520 | Proptosis | |
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| HP:0000598 | Abnormality of the ears | |
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| HP:0000787 | Kidney stones | |
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| HP:0000803 | Renal cortical cysts | |
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| HP:0001052 | Nevus flammeus | "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [HPO:sdoelken] |
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| HP:0001279 | Syncope | "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators] |
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| HP:0001305 | Dandy-Walker malformation | "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman s terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the body s ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0001528 | Hemihypertrophy | |
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| HP:0001539 | Omphalocele | |
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| HP:0001540 | Diastasis recti | |
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| HP:0001548 | Overgrowth | |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001640 | Cardiomegaly | |
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| HP:0001645 | Sudden cardiac death | |
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| HP:0001649 | Tachycardia | "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:curators] |
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| HP:0001657 | Prolonged QT interval on EKG | |
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| HP:0001662 | Bradycardia | |
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| HP:0001663 | Ventricular fibrillation | |
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| HP:0001664 | Torsade de pointes | |
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| HP:0001678 | Atrioventricular block | |
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| HP:0001727 | Thromboembolic stroke may occur | |
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| HP:0001962 | Palpitations | |
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| HP:0001998 | Neonatal hypoglycemia | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002667 | Nephroblastoma (Wilms tumor) | "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators] |
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| HP:0002884 | Hepatoblastoma | |
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| HP:0003247 | Overgrowth of external genitalia | |
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| HP:0005110 | Atrial fibrillation | |
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| HP:0005487 | Prominent metopic suture | "A prominent persistent frontal suture (metopic suture)." [HPO:curators] |
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| HP:0005616 | Accelerated skeletal maturation | "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0006277 | Pancreatic hyperplasia | |
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| HP:0006744 | Adrenocortical carcinoma | |
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| HP:0008186 | Adrenocortical cytomegaly | |
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| HP:0008523 | Pits in posterior aspect of ear helices | |
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| HP:0008527 | Congenital sensorineural hearing loss | |
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| HP:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
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| HP:0012232 | Shortened QT interval | "Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [HPO:probinson] |
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