Common deletion and duplication syndromes (Version 0.137)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 61 Entitiess
Green Green List (high evidence)	Cri-du-chat syndrome, 5p15 terminal deletion syndrome ISCA-37390-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Cri-du-chat syndrome MIM#123450 intellectual disability microcephaly Tags SV/CNV
Green Green List (high evidence)	7q11.23 duplication syndrome ISCA-37392-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Chromosome 7q11.23 duplication syndrome, MIM# 609757 intellectual disability hypotonia macrocephaly seizures aortic dilatation Tags SV/CNV
Green Green List (high evidence)	Williams-Beuren syndrome, 7q11.23 deletion syndrome ISCA-37392-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Williams-Beuren syndrome, MIM# 194050 intellectual disability growth retardation cardiovascular disease Tags SV/CNV
Green Green List (high evidence)	Cat eye syndrome, 22q11.21 tetrasomy syndrome ISCA-37393-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Cat eye syndrome, MIM# 115470 coloboma anal atresia heart and renal malformations Tags SV/CNV
Green Green List (high evidence)	2q37.3 deletion syndrome ISCA-37394-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Chromosome 2q37 deletion syndrome, MIM# 600430 brachydactyly intellectual disability Tags SV/CNV
Green Green List (high evidence)	Chromosome 15q24 deletion syndrome ISCA-37396-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 15q24 deletion syndrome, MIM#613406 intellectual disability facial dysmorphisms congenital malformations of the hands and feet, eye, and genitalia joint laxity and growth retardation and failure to thrive Tags SV/CNV
Green Green List (high evidence)	Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal ISCA-37397-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal intellectual disability dysmorphic features congenital anomalies Tags SV/CNV
Green Green List (high evidence)	Chromosome 22q11.2 deletion syndrome, distal, MIM#611867 ISCA-37397-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 22q11.2 deletion syndrome, distal, MIM#611867 intellectual disability seizures growth retardation multiple congenital anomalies Tags SV/CNV
Green Green List (high evidence)	Chromosome 16p11.2 duplication syndrome, proximal ISCA-37400-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 16p11.2 duplication syndrome, MIM# 614671 intellectual disability autism Tags SV/CNV
Green Green List (high evidence)	Chromosome 16p11.2 deletion syndrome, proximal ISCA-37400-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913 autism intellectual disability seizures Tags SV/CNV
Green Green List (high evidence)	Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome ISCA-37401-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, MIM# 194072 Tags SV/CNV
Green Green List (high evidence)	Chromosome 15q11q13 duplication syndrome ISCA-37404-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 15q11q13 duplication syndrome {Autism susceptibility 4} 608636 intellectual disability seizures ataxia Tags SV/CNV
Green Green List (high evidence)	Angelman and Prader-Willi syndromes ISCA-37404-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Angelman syndrome, MIM# 105830 Prader-Willi syndrome, MIM# 176270 Tags SV/CNV
Green Green List (high evidence)	NPHP1 deletion ISCA-37405-Loss Region	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nephronophthisis 1, juvenile, MIM# 256100 Joubert syndrome 4, MIM# 609583 Senior-Loken syndrome 1, MIM# 266900 Tags SV/CNV
Green Green List (high evidence)	Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome ISCA-37406-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome Tags SV/CNV
Green Green List (high evidence)	Chromosome 2p16.1-p15 deletion syndrome ISCA-37408-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 2p16.1-p15 deletion syndrome 612513 intellectual disability autism microcephaly dysmorphic features Tags SV/CNV
Green Green List (high evidence)	Chromosome 15q13.3 microdeletion syndrome ISCA-37411-Loss Region	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Chromosome 15q13.3 microdeletion syndrome, MIM# 612001 intellectual disability epilepsy Tags SV/CNV
Green Green List (high evidence)	16p13.11 microduplication syndrome ISCA-37415-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes 16p13.11 microduplication syndrome intellectual disability autism aortopathy Tags SV/CNV
Green Green List (high evidence)	Chromosome 16p13.11 deletion syndrome ISCA-37415-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes 16p13.11 microdeletion syndrome intellectual disability autism epilepsy Tags SV/CNV
Green Green List (high evidence)	Ichthyosis, X-linked, STS deletion ISCA-37417-Loss Region	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Ichthyosis, X-linked, MIM# 308100 Tags
Green Green List (high evidence)	Potocki-Lupski syndrome ISCA-37418-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Potocki-Lupski syndrome, MIM# 610883 intellectual disability hypotonia congenital anomalies Tags
Green Green List (high evidence)	Koolen-de Vries syndrome ISCA-37420-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Koolen-De Vries syndrome, MIM# 610443 intellectual disability hypotonia dysmorphic features Tags SV/CNV
Green Green List (high evidence)	Chromosome 1q21.1 duplication syndrome, distal BP3-BP4 ISCA-37421-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 1q21.1 duplication syndrome, MIM# 612475 intellectual disability autism macrocephaly Tags SV/CNV
Green Green List (high evidence)	Chromosome 1q21.1 deletion syndrome, distal BP3-BP4 ISCA-37421-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 1q21.1 deletion syndrome, MIM# 612474 intellectual disability microcephaly congenital anomalies Tags SV/CNV
Green Green List (high evidence)	8p23.1 duplication syndrome ISCA-37423-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes 8p23.1 duplication syndrome intellectual disability congenital heart disease Tags SV/CNV
Green Green List (high evidence)	8p23.1 deletion syndrome ISCA-37423-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes 8p23.1 deletion syndrome congenital heart disease developmental delay Tags SV/CNV
Green Green List (high evidence)	10q22.3q23.2 deletion syndrome (LCR-3/4-flanked) ISCA-37424-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked) intellectual disability autism macrocephaly Tags SV/CNV
Green Green List (high evidence)	Chromosome 5q35 duplication syndrome ISCA-37425-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 5q35 duplication syndrome microcephaly failure to thrive seizures Tags SV/CNV
Green Green List (high evidence)	Sotos syndrome, chromosome 5q35 deletion ISCA-37425-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Sotos syndrome, chromosome 5q35 deletion intellectual disability overgrowth Tags SV/CNV
Green Green List (high evidence)	Wolf-Hirschhorn syndrome, chromosome 4p16.3 terminal deletion ISCA-37429-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Wolf-Hirschhorn syndrome, MIM# 194190 intellectual disability growth retardation seizures dysmorphic features Tags SV/CNV
Green Green List (high evidence)	Chromosome 17p13.3 duplication syndrome, centromeric ISCA-37430-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 17p13.3 duplication syndrome, centromeric, MIM#613215 intellectual disability Tags SV/CNV
Green Green List (high evidence)	Miller-Dieker syndrome, chromosome 17p13.3 deletion syndrome ISCA-37430-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Miller-Dieker lissencephaly syndrome, MIM# 247200 Tags
Green Green List (high evidence)	Chromosome 17q11.2 duplication syndrome ISCA-37431-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 17q11.2 duplication syndrome, 1.4-Mb MIM#618874 NF1 microduplication intellectual disability micro- and macrocephaly seizures dysmorphic features Tags
Green Green List (high evidence)	Chromosome 17q11.2 deletion syndrome, NF1 deletion syndrome ISCA-37431-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome Tags
Green Green List (high evidence)	Chromosome 17q12 duplication syndrome ISCA-37432-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Chromosome 17q12 duplication syndrome 614526 intellectual disability seizures congenital anomalies Tags
Green Green List (high evidence)	Chromosome 17q12 deletion syndrome ISCA-37432-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Chromosome 17q12 deletion syndrome MIM#614527 Renal cysts and diabetes (RCAD) syndrome Tags
Green Green List (high evidence)	Chromosome 22q11.2 microduplication syndrome ISCA-37433-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Chromosome 22q11.2 microduplication syndrome MIM#608363 Tags
Green Green List (high evidence)	DiGeorge syndrome ISCA-37433-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes DiGeorge syndrome MIM#188400 Tags
Green Green List (high evidence)	Chromosome 1p36 deletion syndrome ISCA-37434-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Chromosome 1p36 deletion syndrome MIM#607872 intellectual disability hypotonia congenital anomalies Tags
Green Green List (high evidence)	Charcot-Marie-Tooth disease type 1A ISCA-37436-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Charcot-Marie-Tooth disease type 1A, MIM#118220 Tags
Green Green List (high evidence)	Hereditary neuropathy with liability to pressure palsies ISCA-37436-Loss Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Neuropathy, recurrent, with pressure palsies, MIM# 162500 Tags SV/CNV
Green Green List (high evidence)	Chromosome Xq28 duplication syndrome ISCA-37439-Gain Region	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes Chromosome Xq28 duplication syndrome MIM#300815 Tags
Green Green List (high evidence)	2p21 deletion syndrome ISCA-37440-Loss Region	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 2p21 deletion syndrome Hypotonia-cystinuria syndrome, MIM# 606407 Tags
Green Green List (high evidence)	Potocki-Shaffer syndrome ISCA-37441-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Potocki-Shaffer syndrome MIM#601224 intellectual disability multiple exostoses biparietal foramina Tags
Green Green List (high evidence)	Chromosome 6q24-related transient diabetes mellitus, neonatal ISCA-37442-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Diabetes mellitus, transient neonatal 1, MIM# 601410 Tags SV/CNV
Green Green List (high evidence)	Chromosome 3q29 microdeletion syndrome ISCA-37443-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Chromosome 3q29 microdeletion syndrome MIM#609425 intellectual disability autism Tags
Green Green List (high evidence)	Chromosome 22q11.2 microduplication syndrome ISCA-37446-Gain Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D Tags
Green Green List (high evidence)	Chromosome 22q11.2 deletion syndrome, distal ISCA-37446-Loss Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 22q11.2 deletion syndrome, distal MIM#611867 intellectual disability autism multiple congenital anomalies Tags SV/CNV
Green Green List (high evidence)	Chromosome 7q36.3 duplication syndrome (SHH cis-regulatory duplication, ZRS) ISCA-37467-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Syndactyly, type IV, MIM# 186200 limb anomalies congenital heart disease congenital anomalies Tags
Green Green List (high evidence)	Chromosome Xp11.3 deletion syndrome ISCA-37468-Loss Region	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes Chromosome Xp11.3 deletion syndrome MIM#300578 intellectual disability retinal dystrophy Tags SV/CNV
Green Green List (high evidence)	Chromosome 15q11q13 duplication syndrome ISCA-37478-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 15q11q13 duplication syndrome, MIM#608636 autism intellectual disability ataxia Tags SV/CNV
Green Green List (high evidence)	Angelman and Prader-Willi syndromes, Class 2 BP2-BP3 deletions ISCA-37478-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Angelman syndrome, MIM# 105830 Prader-Willi syndrome, MIM# 176270 Tags SV/CNV
Green Green List (high evidence)	Chromosome 16p11.2 deletion syndrome ISCA-37486-Loss Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3 intellectual disability autism obesity Tags SV/CNV
Green Green List (high evidence)	1q43q44 microdeletion syndrome ISCA-37493-Loss Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes 1q43q44 microdeletion syndrome intellectual disability seizures microcephaly corpus callosum abnormalities Tags SV/CNV
Green Green List (high evidence)	Chromosome Xq28 duplication syndrome ISCA-37494-Gain Region	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes Chromosome Xq28 duplication syndrome MIM#300815 intellectual disability hypotonia seizures spasticity recurrent respiratory infections Tags
Green Green List (high evidence)	Chromosome 15q25 deletion syndrome ISCA-37500-Loss Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 15q25 deletion syndrome MIM#614294 intellectual disability congenital abnormalities haematological abnormalities Tags
Green Green List (high evidence)	Chromosome 17q23.1-q23.2 deletion syndrome ISCA-37501-Loss Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355 intellectual disability microcephaly congenital anomalies pulmonary hypertension Tags
Green Green List (high evidence)	Chromosome Xp11.23-p11.22 duplication syndrome ISCA-46290-Gain Region	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801 intellectual disability seizures Tags
Green Green List (high evidence)	Chromosome 15q13.3 microdeletion syndrome ISCA-46295-Loss Region	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Chromosome 15q13.3 microdeletion syndrome MIM#612001 intellectual disability seizures Tags
Green Green List (high evidence)	Xp11.22 microduplication syndrome ISCA-46299-Gain Region	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes Xp11.22 microduplication syndrome MIM#300705 Tags SV/CNV
Green Green List (high evidence)	Smith-Magenis syndrome ISCA_37418-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Smith-Magenis syndrome, MIM# 182290 intellectual disability dysmorphic features behavioural issues Tags SV/CNV

Common deletion and duplication syndromes (Version 0.137)

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