| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (including brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (including micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (including arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from an asymptomatic parent. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| 7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidism. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism). |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (including microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (including sloping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (including sloping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| 2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| 15q13.3 microduplication syndrome (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (including macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (including macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Partial trisomy of short arm of chromosome 8 |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Partial trisomy of short arm of chromosome 8 |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Partial trisomy of long arm of chromosome 1 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Partial trisomy of long arm of chromosome 1 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| X-linked acrogigantism |
Associated morphology |
False |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (including microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| 1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| 1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
3 |
| A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
4 |
| Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| A rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| A rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| A rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| A rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| A type of familial infantile gigantism caused by microduplication of Xq26.3. Onset usually occurs in the first year of life in previously normal infants. Patients present with gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. May present as a sporadic condition or as familial isolated pituitary adenomas. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterised in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| 11p15 duplication syndrome (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| 17q23.1-q23.2 duplication syndrome |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| 17q23.1-q23.2 duplication syndrome |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| 17q24-qter duplication syndrome |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| 17q24-qter duplication syndrome |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Distal trisomy 12q (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 12q (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Distal duplication of chromosome 14 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal duplication of chromosome 15 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal duplication of chromosome 13 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 1p |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 1p |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Distal duplication of chromosome 21 |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 1q (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 1q (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Distal trisomy 7q (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 7q (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Distal trisomy 8p (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 8p (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Distal trisomy 9p (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 9p (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Distal trisomy 3q (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Distal trisomy 3q (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Medial duplication of long arm of chromosome 2 |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Medial duplication of long arm of chromosome 4 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Medial duplication of chromosome 14 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Medial duplication of long arm of chromosome 1 |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Medial duplication of chromosome 13 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Medial duplication of long arm of chromosome 1 |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
3 |
| Medial duplication of long arm of chromosome 7 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Medial duplication of long arm of chromosome 5 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Maternal 15q11q13 deletion |
Associated morphology |
False |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Mosaic 1q duplication |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
3 |
| Medial duplication of short arm of chromosome 1 |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Medial duplication of long arm of chromosome 9 |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Medial duplication of short arm of chromosome 1 |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Proximal duplication of long arm of chromosome 5 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Proximal duplication of long arm of chromosome 6 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Proximal duplication of long arm of chromosome 5 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Proximal duplication of long arm of chromosome 6 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
| Proximal duplication of long arm of chromosome 3 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Proximal duplication of long arm of chromosome 4 |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Proximal duplication of long arm of chromosome 18 |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Proximal duplication of long arm of chromosome 2 |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
1 |
| Proximal duplication of long arm of chromosome 3 (disorder) |
Associated morphology |
True |
Partial trisomy |
Inferred relationship |
Some |
2 |
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