Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Komplet trisomi 14-syndrom |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Anomaly of chromosome pair 14 |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
14q partial trisomy (disorder) |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
14q partial proximal trisomy syndrome |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Komplet trisomi 14-syndrom |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
14q partial trisomy (disorder) |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
14q partial proximal trisomy syndrome |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Anomaly of chromosome pair 14 |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Komplet trisomi 14-syndrom |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Anomaly of chromosome pair 14 |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
14q partial proximal trisomy syndrome |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
14q partial trisomy (disorder) |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
4 |
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
3 |
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. |
Finding site |
True |
Chromosome pair 14 |
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. |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
3 |
Deletion of part of chromosome 14 (disorder) |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Partial trisomy of chromosome 14 (disorder) |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate. |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
2 |
Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate. |
Finding site |
True |
Chromosome pair 14 |
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. |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
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. |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
A rare partial deletion of the long arm of chromosome 14 with characteristics of ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations and hearing impairment. Smaller 14q22 deletions may have variable expression. |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
4 |
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
2 |
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
3 |
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
14q32 deletion syndrome |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
14q32 deletion syndrome |
Finding site |
False |
Chromosome pair 14 |
Inferred relationship |
Some |
2 |
Distal deletion of chromosome 14 (disorder) |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Distal duplication of chromosome 14 (disorder) |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Paternal 14q32.2 microdeletion (disorder) |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Medial duplication of chromosome 14 (disorder) |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Maternal uniparental disomy of chromosome 14 |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Medial deletion of chromosome 14 |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Paternal uniparental disomy of chromosome 14 |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Proximal deletion of chromosome 14 |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Proximal duplication of chromosome 14 (disorder) |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
Disease with characteristics of intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck and large low set ears. |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
1 |
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
2 |
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. |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
2 |
Partial deletion of long arm of chromosome 14 (disorder) |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
2 |
A rare partial deletion of the long arm of chromosome 14 with characteristics of ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations and hearing impairment. Smaller 14q22 deletions may have variable expression. |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
2 |
14q partial proximal trisomy syndrome |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
2 |
14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. |
Finding site |
True |
Chromosome pair 14 |
Inferred relationship |
Some |
2 |