- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/1. (PMID:28691929)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: IEA. (OMIM:617784)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: IEA. (OMIM:617784)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: IEA. (OMIM:617784)
- Megakaryocyte dysplasia (HP:0031689): The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei. Evidence: PCS. Frequency: 1/1. (PMID:28691929)
- Chiari malformation (HP:0002308): Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. Evidence: PCS. Frequency: 1/1. (PMID:28691929)
- 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:28691929)
- Abnormal periventricular white matter morphology (HP:0002518): A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. Evidence: IEA. (OMIM:617784)
- Decreased response to growth hormone stimulation test (HP:0000824): Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. Evidence: PCS. Frequency: 1/1. (PMID:28691929)
- Polysplenia (HP:0001748): Polysplenia is a congenital disease manifested by multiple small accessory spleens. Evidence: PCS. Frequency: 1/1. (PMID:28691929)
- Absent thumb (HP:0009777): Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. Evidence: PCS. Frequency: 1/1. (PMID:28691929)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: IEA. (OMIM:617784)
- Radial ray deficiency (HP:0006433): Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia. Evidence: PCS. Frequency: 1/1. (PMID:28691929)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: IEA. (OMIM:617784)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 1/1. (PMID:28691929)
- Myelodysplasia (HP:0002863): Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Evidence: PCS. Frequency: 1/1. (PMID:28691929)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: PCS. Frequency: 1/1. (PMID:28691929)
- Duodenal atresia (HP:0002247): A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. Evidence: PCS. Frequency: 1/1. (PMID:28691929)
These phenotypes are associated with the disease Fanconi anemia, complementation group W (OMIM:617784).