- Absent septum pellucidum (HP:0001331): Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm. Evidence: PCS. Frequency: 1/2. (PMID:40244696)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. Frequency: 2/3. (PMID:40244696)
- Dextrocardia (HP:0001651): The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. Evidence: PCS. Frequency: 1/4. (PMID:40244696)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 3/4. (PMID:40244696)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 2/2. (PMID:40244696)
- Microcornea (HP:0000482): A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Ectopic kidney (HP:0000086): A developmental defect in which a kidney is located in an abnormal anatomic position. Evidence: PCS. Frequency: 1/4. (PMID:40244696)
- Short palpebral fissure (HP:0012745): Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. Evidence: PCS. Frequency: 2/3. (PMID:40244696)
- Absent pituitary stalk (HP:0034976): A developmental defect characterized by failure to develop of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland. Evidence: PCS. Frequency: 0/3. (PMID:40244696)
- Thin corpus callosum (HP:0033725): An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Septo-optic dysplasia (HP:0100842): Underdevelopment of the optic nerve and absence of the septum pellucidum. Evidence: PCS. Frequency: 1/2. (PMID:40244696)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: PCS. Frequency: 3/4. (PMID:40244696;PMID:40232843)
- 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: 2/5. (PMID:40244696;PMID:40232843)
- Patent ductus arteriosus (HP:0001643): 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: 2/4. (PMID:40244696)
- Aplasia of the olfactory tract (HP:0020128): Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell. Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Choanal stenosis (HP:0000452): Abnormal narrowing of the choana (the posterior nasal aperture). Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Bradycardia (HP:0001662): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: PCS. Frequency: 1/1. (PMID:40244696)
- Esophageal atresia (HP:0002032): A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Hypoplasia of the bladder (HP:0005343): Underdevelopment of the urinary bladder. Evidence: PCS. Frequency: 1/2. (PMID:40244696)
- Hypopituitarism (HP:0040075). Evidence: PCS. Frequency: 1/1. (PMID:40244696)
- Bilobed right lung (HP:0033183): A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung. Evidence: PCS. Frequency: 1/2. (PMID:40244696)
- Second trimester onset (HP:0034198): This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). Evidence: PCS. Frequency: 1/4. (PMID:40244696)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- 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:40244696)
- Absent thumb (HP:0009777): Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. Evidence: PCS. Frequency: 3/3. (PMID:40244696)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 2/2. (PMID:40244696)
- Shoulder dislocation (HP:0003834): A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation. Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/4. (PMID:40244696)
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Absent forearm (HP:0005632). Evidence: PCS. Frequency: 2/3. (PMID:40244696)
- Complete atrioventricular canal defect (HP:0001674): A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. Evidence: PCS. Frequency: 1/4. (PMID:40244696)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Fusion of the left and right thalami (HP:0010664): A developmental defect characterized by fusion of the left and right halves of the thalamus. Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Increased RBC distribution width (HP:0031965): Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage. Evidence: PCS. Frequency: 1/1. (PMID:40244696)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:40244696)
- 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: PCS. Frequency: 1/1. (PMID:40232843)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 1/1. (PMID:40244696)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 2/4. (PMID:40244696)
- 2-3 toe cutaneous syndactyly (HP:0005709). Evidence: PCS. Frequency: 2/2. (PMID:40244696)
- Cellular hypersensitivity to mitomycin C (HP:0032188): An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. Evidence: PCS. Frequency: 1/1. (PMID:40232843)
- Partial absence of the septum pellucidum (HP:0030283): Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain. Evidence: PCS. Frequency: 1/2. (PMID:40244696)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 3/3. (PMID:40244696)
- Clinodactyly of the 5th toe (HP:0001864): Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Pancreatic islet-cell hyperplasia (HP:0004510): Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. Evidence: PCS. Frequency: 1/2. (PMID:40244696)
- Phocomelia (HP:0009829): Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the entire limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: PCS. Frequency: 1/1. (PMID:40244696)
- Cerebellar hypoplasia (HP:0001321): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 2/3. (PMID:40244696)
- Ureteral hypoplasia (HP:0032464): Underdevelopment of the ureter. Evidence: PCS. Frequency: 1/2. (PMID:40244696)
- Hypoplastic sacrum (HP:0004590): A developmental defect characterized by undergrowth of the sacrum, which is a large, triangular bone at the base of the spine that forms by the fusing of the sacral vertebrae (S1-S5). Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Oligodactyly (HP:0012165): A developmental defect resulting in the presence of fewer than the normal number of digits. Evidence: PCS. Frequency: 1/1. (PMID:40244696)
- Rib fusion (HP:0000902): Complete or partial merging of adjacent ribs. Evidence: PCS. Frequency: 2/3. (PMID:40244696)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: PCS. Frequency: 1/4. (PMID:40244696)
- Increased mean corpuscular volume (HP:0005518): Larger than normal size of erythrocytes. Evidence: PCS. Frequency: 1/1. (PMID:40244696)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: PCS. Frequency: 0/1. (PMID:40244696)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 1/1. (PMID:40232843)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/1. (PMID:40244696)
- Absent radius (HP:0003974): Missing radius bone associated with congenital failure of development. Evidence: PCS. Frequency: 2/4. (PMID:40244696)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 2/2. (PMID:40244696)
- Polymicrogyria (HP:0002126): Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Evidence: PCS. Frequency: 1/3. (PMID:40244696)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: PCS. Frequency: 1/1. (PMID:40244696)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 2/4. (PMID:40244696)
- 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:40232843)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:40244696)
These phenotypes are associated with the disease fanconi anemia, complementation group 10 (OMIM:621258).