Phenotypes associated with the disease XK aprosencephaly syndrome (ORPHA:3469):
- 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:3469)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3469)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3469)
- Abnormality of the pharynx (HP:0000600): An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3469)
- Abnormal external genitalia morphology (HP:0000811): A structural anomaly of the external genitalia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3469)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3469)
- Abnormal morphology of the radius (HP:0002818): An abnormality of the radius. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3469)
- Abnormal nostril morphology (HP:0005288): Abnormality of the nostril. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3469)
- Hypotelorism (HP:0000601): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3469)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3469)
- 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: Occasional (HP:0040283). (ORPHA:3469)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3469)