Phenotypes associated with the disease Wolf-Hirschhorn syndrome (OMIM:194190):
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- 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: TAS. (OMIM:194190)
- Abnormal vertebral body morphology (HP:0003312): Abnormal form of vertebral body, which is the central cylindrical portion of the vertebra that together with other structures such as the vertebral arch, pedicles, laminae, spinous process, transverse processes, and articular facets makes up a vertebra. Evidence: TAS. Frequency: Frequent (HP:0040282). (PMID:20301362)
- Preaxial hand polydactyly (HP:0001177): Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. Evidence: TAS. Frequency: Occasional (HP:0040283). (ISBN-13:978-3-7945-2657-4)
- Cavum septum pellucidum (HP:0002389): If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. Evidence: TAS. (OMIM:194190)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Frequent (HP:0040282). (ISBN-13:978-3-7945-2657-4;OMIM:194190)
- Tethered cord (HP:0002144): During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:194190)
- 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: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs;ISBN-13:978-3-7945-2657-4)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Decreased muscle mass (HP:0003199). Evidence: TAS. Frequency: Very frequent (HP:0040281). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Craniofacial asymmetry (HP:0004484): Asymmetry of the bones of the skull and the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. (OMIM:194190)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Very frequent (HP:0040281). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Split hand (HP:0001171): A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. Evidence: TAS. Frequency: Occasional (HP:0040283). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ISBN-13:978-3-7945-2657-4;OMIM:194190)
- 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: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Rieger anomaly (HP:0000558): A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ISBN-13:978-3-7945-2657-4;OMIM:194190)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:194190)
- 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: TAS. Frequency: Occasional (HP:0040283). (OMIM:194190)
- Severe postnatal growth retardation (HP:0008850): Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ISBN-13:978-3-7945-2657-4)
- Abnormality of the genitourinary system (HP:0000119): The presence of any abnormality of the genitourinary system. Evidence: TAS. Frequency: 25%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Preaxial foot polydactyly (HP:0001841): Duplication of all or part of the first ray. Evidence: TAS. Frequency: Occasional (HP:0040283). (ISBN-13:978-3-7945-2657-4)
- Sporadic (HP:0003745): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: TAS. (OMIM:194190)
- Metatarsus adductus (HP:0001840): The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. Evidence: TAS. (OMIM:194190)
- Radioulnar synostosis (HP:0002974): An abnormal osseous union (fusion) between the radius and the ulna. Evidence: TAS. (OMIM:194190)
- Highly arched eyebrow (HP:0002553): Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Periventricular cysts (HP:0007109). Evidence: TAS. (OMIM:194190)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ISBN-13:978-3-7945-2657-4)
- 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: TAS. (OMIM:194190)
- EEG abnormality (HP:0002353): Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. Evidence: TAS. Frequency: 90%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. (OMIM:194190)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: 15%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Vertebral fusion (HP:0002948): A developmental defect leading to the union of two adjacent vertebrae. Evidence: TAS. (OMIM:194190)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. (OMIM:194190)
- Hyperconvex fingernails (HP:0001812): When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. Evidence: TAS. (OMIM:194190)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: 40%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: TAS. Frequency: Frequent (HP:0040282). (ISBN-13:978-3-7945-2657-4;OMIM:194190)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: 50%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Short philtrum (HP:0000322): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Sacral dimple (HP:0000960): A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:194190)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Frequent (HP:0040282). (ISBN-13:978-3-7945-2657-4)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. Frequency: Occasional (HP:0040283). (ISBN-13:978-3-7945-2657-4)
- Stenosis of the external auditory canal (HP:0000402): An abnormal narrowing of the external auditory canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ISBN-13:978-3-7945-2657-4;OMIM:194190)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:194190)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: TAS. (OMIM:194190)
- Preauricular skin tag (HP:0000384): A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Preauricular pit (HP:0004467): Small indentation anterior to the insertion of the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Short upper lip (HP:0000188): Decreased width of the upper lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (OMIM:194190)
- Short hallux (HP:0010109): Underdevelopment (hypoplasia) of the big toe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ISBN-13:978-3-7945-2657-4)
- Ectopia pupillae (HP:0009918): A malposition of the pupil owing to a developmental defect of the iris. Evidence: TAS. (OMIM:194190)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: TAS. (OMIM:194190)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ISBN-13:978-3-7945-2657-4)
- Severe intellectual disability (HP:0010864): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: TAS. (OMIM:194190)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs;ISBN-13:978-3-7945-2657-4)
- 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: TAS. (OMIM:194190)
- Aplasia cutis congenita of scalp (HP:0007385): A developmental defect resulting in the congenital absence of skin on the scalp. Evidence: TAS. Frequency: Occasional (HP:0040283). (ISBN-13:978-3-7945-2657-4;OMIM:194190)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: TAS. Frequency: 30%. (ISBN-13:978-3-7945-2657-4)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Motor stereotypy (HP:0000733): Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. (OMIM:194190)
- Accessory spleen (HP:0001747): An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. Evidence: TAS. (OMIM:194190)
- Downturned corners of mouth (HP:0002714): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Rib segmentation abnormalities (HP:0006655). Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Hemangioma (HP:0001028): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: TAS. Frequency: Frequent (HP:0040282). (ISBN-13:978-3-7945-2657-4;OMIM:194190)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- 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: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Prominent glabella (HP:0002057): Forward protrusion of the glabella. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Malrotation of small bowel (HP:0004794): A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel. Evidence: TAS. (OMIM:194190)
- Morphological central nervous system abnormality (HP:0002011): A structural abnormality of the central nervous system. Evidence: TAS. Frequency: 33%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Aplasia of the uterus (HP:0000151): A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:194190)
- Biliary tract abnormality (HP:0001080): An abnormality of the biliary tree. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:194190)
- Metacarpal pseudoepiphysis (HP:0009193): A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone. Evidence: TAS. (OMIM:194190)
- Abnormal sternal ossification (HP:0011863): Any anomaly in the formation of the bony substance of the sternum. Evidence: TAS. (OMIM:194190)
- Precocious puberty (HP:0000826): The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. Evidence: TAS. (OMIM:194190)
- Rib fusion (HP:0000902): Complete or partial merging of adjacent ribs. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Frequent (HP:0040282). (ISBN-13:978-3-7945-2657-4;OMIM:194190)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: TAS. (OMIM:194190)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs;ISBN-13:978-3-7945-2657-4)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:194190)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs;ISBN-13:978-3-7945-2657-4)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: 27%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- 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: TAS. Frequency: 50%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: TAS. Frequency: 69%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs)