Phenotypes associated with the disease Lambert syndrome (ORPHA:1296):
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1296)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1296)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1296)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1296)
- Preauricular skin tag (HP:0000384): A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1296)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1296)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1296)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1296)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1296)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1296)
- Failure to thrive in infancy (HP:0001531). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1296)
- 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: Frequent (HP:0040282). (ORPHA:1296)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1296)
- Intrahepatic biliary atresia (HP:0005248): Atresia in the intrahepatic bile duct. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1296)
- Aplasia/Hypoplasia of the cerebellum (HP:0007360). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1296)
- Branchial anomaly (HP:0009794): Congenital developmental defect arising from the primitive branchial apparatus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1296)