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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Microphthalmos of right eye Occurrence True Congenital Inferred relationship Some 1
Microphthalmos of left eye Occurrence True Congenital Inferred relationship Some 1
Congenital pit of optic disc (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital pit of optic disc of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital pit of optic disc of right eye Occurrence True Congenital Inferred relationship Some 1
Congenital anterior subcapsular polar cataract Occurrence True Congenital Inferred relationship Some 1
Major aortopulmonary collateral artery Occurrence True Congenital Inferred relationship Some 4
Congenital posterior subcapsular polar cataract Occurrence True Congenital Inferred relationship Some 1
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi Occurrence False Congenital Inferred relationship Some 2
Congenital blepharophimosis of lower eyelid Occurrence False Congenital Inferred relationship Some 2
Bilateral congenital aniridia of eyes Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital aniridia of eyes Occurrence True Congenital Inferred relationship Some 1
Bilateral infantile esotropia of eyes Occurrence False Congenital Inferred relationship Some 2
Bilateral infantile esotropia of eyes Occurrence False Congenital Inferred relationship Some 1
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Occurrence False Congenital Inferred relationship Some 5
Accessory tarsal bone of left foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy type 1A Occurrence True Congenital Inferred relationship Some 1
A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. Occurrence True Congenital Inferred relationship Some 1
A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. Occurrence True Congenital Inferred relationship Some 1
A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. Occurrence True Congenital Inferred relationship Some 3
A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal pattern. Congenital overgrowth is typically associated. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features. Occurrence True Congenital Inferred relationship Some 1
myasthénie congénitale et du développement Occurrence False Congenital Inferred relationship Some 1
A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated. Occurrence True Congenital Inferred relationship Some 2
A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated. Occurrence True Congenital Inferred relationship Some 3
A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated. Occurrence True Congenital Inferred relationship Some 1
A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise. Occurrence True Congenital Inferred relationship Some 1
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. Occurrence True Congenital Inferred relationship Some 1
A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. Occurrence True Congenital Inferred relationship Some 3
A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. Occurrence True Congenital Inferred relationship Some 1
Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth. Occurrence True Congenital Inferred relationship Some 2
Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth. Occurrence True Congenital Inferred relationship Some 1
A rare congenital nose and cavum anomaly characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia; other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. Occurrence True Congenital Inferred relationship Some 1
Solitary infantile myofibromatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Infantile myofibromatosis Occurrence True Congenital Inferred relationship Some 1
Aggressive systemic infantile myofibromatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Multicentric infantile myofibromatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital nuclear cataract of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital nuclear cataract of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital posterior subcapsular polar cataract of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital posterior subcapsular polar cataract of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital posterior subcapsular polar cataract of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital posterior subcapsular polar cataract of right eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Amyotonia congenita Occurrence True Congenital Inferred relationship Some 2
Amyotonia congenita Occurrence True Congenital Inferred relationship Some 1
Congenital subaortic diverticulum (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital ectopia of lacrimal punctum (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital rhabdomyomatous mesenchymal hamartoma Occurrence True Congenital Inferred relationship Some 1
Congenital diffuse lipomatosis Occurrence True Congenital Inferred relationship Some 1
Congenital postural scoliosis Occurrence True Congenital Inferred relationship Some 1
Encephalocraniocutaneous lipomatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Occurrence True Congenital Inferred relationship Some 2
Congenital hydrocele of canal of Nuck (disorder) Occurrence True Congenital Inferred relationship Some 1
Pendred's syndrome Occurrence False Congenital Inferred relationship Some 2
A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. Occurrence True Congenital Inferred relationship Some 4
A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction). Occurrence True Congenital Inferred relationship Some 2
Chronic granulomatous disease, type II Occurrence True Congenital Inferred relationship Some 2
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. Occurrence True Congenital Inferred relationship Some 5
Chronic granulomatous disease, type III Occurrence True Congenital Inferred relationship Some 2
A rare, genetic, haematologic disease characterised by increased levels of serum haemoglobin, haematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance. Occurrence True Congenital Inferred relationship Some 1
A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. Occurrence True Congenital Inferred relationship Some 4
A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. Occurrence True Congenital Inferred relationship Some 2
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated. Occurrence True Congenital Inferred relationship Some 2
Severe achondrolasia with developmental delay and acanthosis nigricans Occurrence False Congenital Inferred relationship Some 5
Majeed syndrome is a rare genetic multisystemic disorder characterised by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. Occurrence True Congenital Inferred relationship Some 3
Chronic granulomatous disease, type IIA Occurrence True Congenital Inferred relationship Some 2
Cervical hydromyelocele Occurrence False Congenital Inferred relationship Some 2
Lumbar hydromyelocele Occurrence False Congenital Inferred relationship Some 2
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others. Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated. Occurrence True Congenital Inferred relationship Some 2
Periodontitis co-occurrent with Chédiak-Higashi syndrome Occurrence False Congenital Inferred relationship Some 4
A rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2. Occurrence True Congenital Inferred relationship Some 2
Hypopigmentation-immunodeficiency disease Occurrence True Congenital Inferred relationship Some 3
A rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. Occurrence True Congenital Inferred relationship Some 3
A rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension. Occurrence True Congenital Inferred relationship Some 1
Usher syndrome type 2 Occurrence True Congenital Inferred relationship Some 4
Chronic granulomatous disease, type I Occurrence True Congenital Inferred relationship Some 2
Thoracic hydromyelocele Occurrence False Congenital Inferred relationship Some 2
Congenital arthrogryposis caused by teratogen (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus, valvular defects), urogenital anomalies (including cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated. Occurrence True Congenital Inferred relationship Some 2
Chronic granulomatous disease, type IV Occurrence True Congenital Inferred relationship Some 2
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Occurrence True Congenital Inferred relationship Some 1
Pseudovaginal perineoscrotal hypospadias Occurrence True Congenital Inferred relationship Some 2
A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. Occurrence True Congenital Inferred relationship Some 1
A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD. Occurrence True Congenital Inferred relationship Some 2
A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. Occurrence False Congenital Inferred relationship Some 4
Retinitis pigmentosa-deafness syndrome Occurrence True Congenital Inferred relationship Some 4
Usher syndrome type 1 Occurrence True Congenital Inferred relationship Some 4
Chronic granulomatous disease, type IA Occurrence True Congenital Inferred relationship Some 2
A rare, genetic, neurometabolic disorder characterised by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. Occurrence True Congenital Inferred relationship Some 2
Menkes kinky-hair syndrome Occurrence True Congenital Inferred relationship Some 4
A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992. Occurrence True Congenital Inferred relationship Some 1
Chronic granulomatous disease, type IVA Occurrence True Congenital Inferred relationship Some 2
Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies. Occurrence True Congenital Inferred relationship Some 1
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. Occurrence True Congenital Inferred relationship Some 3
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. Occurrence True Congenital Inferred relationship Some 7
Retinitis pigmentosa-deafness-ataxia syndrome Occurrence True Congenital Inferred relationship Some 4

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