Phenotypes associated with the disease Müllerian derivatives-lymphangiectasia-polydactyly syndrome (ORPHA:1655):
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Abnormality of the uterus (HP:0000130): An abnormality of the uterus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Vaginal atresia (HP:0000148): Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Smooth philtrum (HP:0000319): Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Hypertrichosis (HP:0000998): Hypertrichosis is increased hair growth that is abnormal in quantity or location. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Abnormally large globe (HP:0001090): Diffusely large eye (with megalocornea) without glaucoma. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Hepatic failure (HP:0001399). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Hypoproteinemia (HP:0003075): A decreased concentration of protein in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Flat occiput (HP:0005469): Reduced convexity of the occiput (posterior part of skull). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Redundant neck skin (HP:0005989): Excess skin around the neck, often lying in horizontal folds. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Pancreatic lymphangiectasis (HP:0006273): The presence of lymphangiectasis in the pancreas. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Pulmonary lymphangiectasia (HP:0006521): Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Alveolar ridge overgrowth (HP:0009085): Increased width of the alveolar ridges. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Abnormal fallopian tube morphology (HP:0011027): An abnormality of the fallopian tube. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- 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. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Abnormal renal morphology (HP:0012210): Any structural anomaly of the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1655)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1655)
- Protein-losing enteropathy (HP:0002243): Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1655)