- Disproportionate shortening of the tibia (HP:0005766). Evidence: PCS. Frequency: 3/3. (PMID:33568816)
- 3-4 finger cutaneous syndactyly (HP:0011939): A soft tissue continuity in the A/P axis between fingers 3 and 4. Evidence: PCS. Frequency: 3/3. (PMID:33568816)
- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: PCS. Frequency: 1/3. (PMID:33568816)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: PCS. Frequency: 3/3. (PMID:33568816)
- Cutaneous syndactyly of toes (HP:0010621): A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. Evidence: PCS. Frequency: 3/3. (PMID:33568816)
- Volar fingernail (HP:0033976): The presence of an extra nail on the palmar (volar, ventral) surface of the finger. Evidence: PCS. Frequency: 3/3. (PMID:33568816)
- Aplasia of the distal phalanges of the toes (HP:0010645): Absence of the distal phalanges of the toes. Evidence: PCS. Frequency: 3/3. (PMID:33568816)
- Triangular tibia (HP:0031260): A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally. Evidence: PCS. Frequency: 3/3. (PMID:33568816)
- Neonatal sepsis (HP:0040187): Systemic inflammatory response to infection in newborn babies. Evidence: PCS. Frequency: 1/3. (PMID:33568816)
- Absent proximal finger flexion creases (HP:0006077): Absence of the proximal interphalangeal flexion creases of the fingers. Evidence: PCS. Frequency: 1/3. (PMID:33568816)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: PCS. Frequency: 2/3. (PMID:33568816)
- Short middle phalanx of the 2nd finger (HP:0009577): Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. Evidence: PCS. Frequency: 1/3. (PMID:33568816)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:33568816)
- Hypoplastic labia majora (HP:0000059): Undergrowth of the outer labia. Evidence: PCS. Frequency: 1/1. (PMID:33568816)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/3. (PMID:33568816)
These phenotypes are associated with the disease ENDOVE syndrome, limb-only type (OMIM:619217).