- Abnormal morphology of female internal genitalia (HP:0000008): An abnormality of the female internal genitalia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2141)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
- Abnormal scapula morphology (HP:0000782): Any abnormality of the scapula, also known as the shoulder blade. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
- 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. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
- Abnormality of the lower limb (HP:0002814): An abnormality of the leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
- Abnormality of the upper limb (HP:0002817): An abnormality of the arm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
- Abnormal femur morphology (HP:0002823): Any anomaly of the structure of the femur. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
- Decreased skull ossification (HP:0004331): A reduction in the magnitude or amount of ossification of the skull. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
- Aplasia/Hypoplasia of the fibula (HP:0006492): Absence or underdevelopment of the fibula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
- Aplasia/Hypoplasia of the ulna (HP:0006495): Absence or underdevelopment of the ulna. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
- Aplasia/Hypoplasia of the radius (HP:0006501): A small/hypoplastic or absent/aplastic radius. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
- Aplasia/hypoplasia of the humerus (HP:0006507): Absence (due to failure to form) or underdevelopment of the humerus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
- Upper limb asymmetry (HP:0100560): Difference in length or size between the right and left arm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2141)
These phenotypes are associated with the disease Diaphragmatic defect-limb deficiency-skull defect syndrome (ORPHA:2141).