- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3204)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3204)
- Miosis (HP:0000616): Abnormal (non-physiological) constriction of the pupil. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3204)
- Purpura (HP:0000979): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3204)
- Asplenia (HP:0001746): Absence (aplasia) of the spleen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3204)
- Abnormality of thrombocytes (HP:0001872): An abnormality of platelets. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3204)
- Abnormal speech pattern (HP:0002167): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3204)
- Abnormality of the musculature (HP:0003011): Abnormality originating in one or more muscles, i.e., of the set of muscles of body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3204)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3204)
- Ichthyosis (HP:0008064): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3204)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3204)
- Abnormality of coagulation (HP:0001928): An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3204)
These phenotypes are associated with the disease Stormorken-Sjaastad-Langslet syndrome (ORPHA:3204).