Phenotypes associated with the disease Splenogonadal fusion-limb defects-micrognathia syndrome (ORPHA:2063):
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2063)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2063)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2063)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2063)
- Abnormality of the knee (HP:0002815): An abnormality of the knee joint or surrounding structures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2063)
- Abnormality of the upper limb (HP:0002817): An abnormality of the arm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2063)
- Abnormal femur morphology (HP:0002823): Any anomaly of the structure of the femur. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2063)
- Abnormal fibula morphology (HP:0002991): An anomaly of the calf bone (fibula), one of the two bones of the calf. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2063)
- Abnormality of the wrist (HP:0003019): Abnormality of the wrist, the structure connecting the hand and the forearm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2063)
- 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: Frequent (HP:0040282). (ORPHA:2063)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2063)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2063)
- Upper limb asymmetry (HP:0100560): Difference in length or size between the right and left arm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2063)
- Abnormal palate morphology (HP:0000174): Any abnormality of the palate, i.e., of roof of the mouth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)
- Narrow palate (HP:0000189): Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)
- Plagiocephaly (HP:0001357): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)
- Abnormal lung lobation (HP:0002101): A developmental defect in the formation of pulmonary lobes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)
- Abnormality of neuronal migration (HP:0002269): An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)
- Multiple unerupted teeth (HP:0006283): The presence of multiple embedded tooth germs which have failed to erupt. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)
- Crowded maxillary incisors (HP:0006333): A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)
- Aplasia/Hypoplasia of the lungs (HP:0006703). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)
- Tooth agenesis (HP:0009804): The absence of one or more teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2063)