- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. (OMIM:130650)
- Hepatoblastoma (HP:0002884): A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts. Evidence: IEA. (OMIM:130650)
- Nevus flammeus (HP:0001052): A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. Evidence: TAS. (OMIM:130650)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: IEA. (OMIM:130650)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: IEA. (OMIM:130650)
- Placental mesenchymal dysplasia (HP:0032165): Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells. Evidence: PCS. (PMID:18342934)
- Large fontanelles (HP:0000239): 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. Evidence: IEA. (OMIM:130650)
- Overgrowth (HP:0001548): Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. Evidence: TAS. (OMIM:130650)
- Dandy-Walker malformation (HP:0001305): 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 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:130650)
- Pancreatic hyperplasia (HP:0006277): Hyperplasia of the pancreas. Evidence: IEA. (OMIM:130650)
- Hemihypertrophy (HP:0001528): Overgrowth of only one side of the body. Evidence: TAS. (OMIM:130650)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: IEA. (OMIM:130650)
- Diastasis recti (HP:0001540): A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). Evidence: IEA. (OMIM:130650)
- Overgrowth of external genitalia (HP:0003247). Evidence: IEA. (OMIM:130650)
- Vesicoureteral reflux (HP:0000076): 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. Evidence: TAS. (OMIM:130650)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: IEA. (OMIM:130650)
- Gonadoblastoma (HP:0000150): The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. Evidence: IEA. (OMIM:130650)
- Prominent metopic ridge (HP:0005487): Vertical bony ridge positioned in the midline of the forehead. Evidence: TAS. (OMIM:130650)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: TAS. (OMIM:130650)
- Adrenocortical cytomegaly (HP:0008186): The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. Evidence: IEA. (OMIM:130650)
- Renal cortical cysts (HP:0000803): Cysts of the cortex of the kidney. Evidence: TAS. (OMIM:130650)
- Neonatal hypoglycemia (HP:0001998). Evidence: IEA. (OMIM:130650)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: IEA. (OMIM:130650)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: TAS. (OMIM:130650)
- Posterior helix pit (HP:0008523): Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated. Evidence: PCS. (PMID:17223397)
- Accelerated skeletal maturation (HP:0005616): 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. Evidence: IEA. (OMIM:130650)
- Nephroblastoma (HP:0002667): The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. Evidence: IEA. (OMIM:130650)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. (PMID:23511928)
- Adrenocortical carcinoma (HP:0006744): A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. Evidence: IEA. (OMIM:130650)
- Autosomal dominant inheritance (HP:0000006): 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. Evidence: TAS. (OMIM:130650)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, 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 scrotum. Evidence: IEA. (OMIM:130650)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: IEA. (OMIM:130650)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: TAS. (OMIM:130650)
- Prominent occiput (HP:0000269): Increased convexity of the occiput (posterior part of the skull). Evidence: IEA. (OMIM:130650)
These phenotypes are associated with the disease Beckwith-Wiedemann syndrome (OMIM:130650).