| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 10q partial monosomy (disorder) |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
|
| 22q partial monosomy (disorder) |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
|
| 8q partial monosomy syndrome |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| 1q partial monosomy |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
|
| 16q partial monosomy syndrome |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
|
| 4q partial monosomy syndrome |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
|
| 18q partial monosomy syndrome |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
|
| 11q partial monosomy syndrome |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
|
| 9q partial monosomy syndrome |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
|
| 15q partial monosomy syndrome |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
|
| Williams syndrome (disorder) |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
4 |
| 7q partial monosomy |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
|
| 8q partial monosomy syndrome |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
|
| 15q13.3 microdeletion |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 1q21.1 microdeletion |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
|
| 21q partial monosomy syndrome |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| 10q partial monosomy (disorder) |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 1q partial monosomy |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 18q partial monosomy syndrome |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| 15q partial monosomy syndrome |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 8q partial monosomy syndrome |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| 4q partial monosomy syndrome |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 22q partial monosomy (disorder) |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| 7q partial monosomy |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 16q partial monosomy syndrome |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 9q partial monosomy syndrome |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| 13q partial monosomy syndrome |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| 11q partial monosomy syndrome |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| 1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| 12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
5 |
| 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
4 |
| Deletion of long arm of chromosome 17 |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
4 |
| 1q21.1 microdeletion |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
5 |
| Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3. The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
4 |
| A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
4 |
| 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| Deletion of part of long arm of chromosome 5 (disorder) |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| Deletion of part of long arm of chromosome 20 (disorder) |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| Deletion of part of long arm of chromosome 3 (disorder) |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| Deletion of long arm of chromosome 19 (disorder) |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| Deletion of part of long arm of chromosome 6 (disorder) |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| Deletion of part of long arm of chromosome 2 (disorder) |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| Deletion of part of long arm of chromosome 12 (disorder) |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcemia have also been reported. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| Deletion of part of long arm of chromosome 17 (disorder) |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognathia and pointed chin. For certain very distal deletions including the SMARCB1 gene, there is a risk of developing malignant rhabdoid tumors. Most deletions are de novo. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| 2q33.1 microdeletion syndrome (disorder) |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| A chromosomal condition occurring when a piece of the long (q) arm of chromosome 18 is missing near the centre of the chromosome. The disease has a wide range of characteristics including developmental delay, intellectual disability, delayed expressive language skills, recurrent seizures and hypotonia. Macrocephaly may also be associated along with characteristic facial features including prominent forehead, ptosis, downslanting palpebral fissures, puffy periorbital tissue, and full cheeks. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a parent. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 5q31.3 microdeletion syndrome (disorder) |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and ophthalmological anomalies were also reported. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (including micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 9q22.3 deletion syndrome |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| 14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
3 |
| A rare partial autosomal microdeletion syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
1 |
| A partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| Monosomie 14q, distale |
Associated morphology |
False |
Deletion of long arm |
Inferred relationship |
Some |
2 |
| A rare partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin. |
Associated morphology |
True |
Deletion of long arm |
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. |
Associated morphology |
True |
Deletion of long arm |
Inferred relationship |
Some |
2 |
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