Phenotypes associated with the disease Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990):
- 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: Very frequent (HP:0040281). (ORPHA:990)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Microglossia (HP:0000171): Decreased length and width of the tongue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Abnormal cranial nerve morphology (HP:0001291): Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Holoprosencephaly (HP:0001360): Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Aplasia/Hypoplasia of the cerebellum (HP:0007360). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Hypoplasia of penis (HP:0008736). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Cyclopia (HP:0009914): Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Aplasia/Hypoplasia involving the nose (HP:0009924): Underdevelopment or absence of the nose or parts thereof. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Mandibular aplasia (HP:0009939): Absence of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Narrow internal auditory canal (HP:0011386): Reduction in diameter of the internal auditory canal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Absent nares (HP:0100596): The nostrils (the paired channels of the nose) are not present. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Synotia (HP:0100663): A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)
- Aplasia/Hypoplasia of the eyebrow (HP:0100840): Absence or underdevelopment of the eyebrow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:990)