- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/1. (PMID:22232082)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:22232082)
- Ectopic kidney (HP:0000086, a Human Phenotype Ontology term): A developmental defect in which a kidney is located in an abnormal anatomic position. Evidence: PCS. Frequency: 1/1. (PMID:22232082)
- Absent scaphoid (HP:0011835, a Human Phenotype Ontology term): Congenital absence of the scaphoid.. Evidence: PCS. Frequency: 1/1. (PMID:22232082)
- Aplasia of the 1st metacarpal (HP:0010035, a Human Phenotype Ontology term): Absent first metacarpal (long bone) of the hand. Evidence: PCS. Frequency: 1/1. (PMID:22232082)
- Unilateral facial palsy (HP:0012799, a Human Phenotype Ontology term): One-sided weakness of the muscles of facial expression and eye closure. Evidence: PCS. Frequency: 1/1. (PMID:22232082)
- Chromosome breakage (HP:0040012, a Human Phenotype Ontology term): Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. Evidence: PCS. Frequency: 1/1. (PMID:22232082)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:22232082)
- Absent thumb (HP:0009777, a Human Phenotype Ontology term): Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. Evidence: PCS. Frequency: 1/1. (PMID:22232082)
- Patent ductus arteriosus (HP:0001643, a Human Phenotype Ontology term): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 1/1. (PMID:22232082)
- Growth delay (HP:0001510, a Human Phenotype Ontology term): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 1/1. (PMID:22232082)
- Hypoplasia of the radius (HP:0002984, a Human Phenotype Ontology term): Underdevelopment of the radius. Evidence: PCS. Frequency: 1/1. (PMID:22232082)
- Absent radius (HP:0003974, a Human Phenotype Ontology term): Missing radius bone associated with congenital failure of development. Evidence: PCS. Frequency: 1/1. (PMID:22232082)
These phenotypes are associated with the disease Fanconi anemia complementation group U (OMIM:617247, an entry in Online Mendelian Inheritance in Man).