Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

MalaCards integrated aliases for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

Name: Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb ⁵⁷

Chromosome 17q11.2 Deletion Syndrome, 1.4mb ⁵⁷ ²⁸ ⁵

Nf1 Microdeletion Syndrome ⁵⁷ ⁷¹

Neurofibromatosis 1 Microdeletion Syndrome ⁵⁷

Van Asperen Syndrome ⁵⁷

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
contiguous gene deletion syndrome
patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

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Summaries for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

OMIM®: ⁵⁷ Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003). (613675) (Updated 08-Dec-2022)

MalaCards based summary: Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb, also known as chromosome 17q11.2 deletion syndrome, 1.4mb, is related to chromosome 17q11.2 deletion syndrome and neurofibromatosis, type i. An important gene associated with Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb is DEL17Q11.2 (Chromosome 17q11.2 Deletion Syndrome). Affiliated tissues include heart, bone and brain, and related phenotypes are macrocephaly and intellectual disability

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Related Diseases for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Diseases related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)

#	Related Disease	Score
1	chromosome 17q11.2 deletion syndrome	11.6
2	neurofibromatosis, type i	10.4
3	neurofibromatosis-noonan syndrome	10.4
4	neurofibromatosis	10.4
5	neurofibroma	10.1
6	hepatocellular carcinoma	10.0
7	cleft palate, isolated	10.0
8	strabismus	10.0
9	corpus callosum, agenesis of	10.0
10	myopathy with lactic acidosis, hereditary	10.0
11	multiple pterygium syndrome, escobar variant	10.0
12	cranioectodermal dysplasia 4	10.0
13	chromosome 17q11.2 duplication syndrome, 1.4-mb	10.0
14	craniosynostosis	10.0
15	skin disease	10.0
16	malignant peripheral nerve sheath tumor	10.0
17	learning disability	10.0
18	erythrokeratoderma ''en cocardes''	10.0
19	pulmonary supravalvular stenosis	10.0
20	hypotonia	10.0

Graphical network of the top 20 diseases related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

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Symptoms & Phenotypes for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Human phenotypes related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

³⁰ (show all 39)

#	Description	HPO Frequency	HPO Source Accession
1	macrocephaly ³⁰	Very rare (1%)	HP:0000256
2	intellectual disability ³⁰	Very rare (1%)	HP:0001249
3	seizure ³⁰	Very rare (1%)	HP:0001250
4	scoliosis ³⁰	Very rare (1%)	HP:0002650
5	hypotonia ³⁰	Very rare (1%)	HP:0001252
6	coarse facial features ³⁰	Very rare (1%)	HP:0000280
7	hearing impairment ³⁰	Very rare (1%)	HP:0000365
8	global developmental delay ³⁰	Very rare (1%)	HP:0001263
9	hypertelorism ³⁰	Very rare (1%)	HP:0000316
10	delayed speech and language development ³⁰	Very rare (1%)	HP:0000750
11	cognitive impairment ³⁰	Very rare (1%)	HP:0100543
12	strabismus ³⁰	Very rare (1%)	HP:0000486
13	attention deficit hyperactivity disorder ³⁰	Very rare (1%)	HP:0007018
14	low-set ears ³⁰	Very rare (1%)	HP:0000369
15	broad neck ³⁰	Very rare (1%)	HP:0000475
16	specific learning disability ³⁰	Very rare (1%)	HP:0001328
17	pectus excavatum ³⁰	Very rare (1%)	HP:0000767
18	joint hypermobility ³⁰	Very rare (1%)	HP:0001382
19	facial asymmetry ³⁰	Very rare (1%)	HP:0000324
20	pes cavus ³⁰	Very rare (1%)	HP:0001761
21	tall stature ³⁰	Very rare (1%)	HP:0000098
22	plexiform neurofibroma ³⁰	Very rare (1%)	HP:0009732
23	lisch nodules ³⁰	Very rare (1%)	HP:0009737
24	spinal neurofibromas ³⁰	Very rare (1%)	HP:0009735
25	bone cyst ³⁰	Very rare (1%)	HP:0012062
26	large hands ³⁰	Very rare (1%)	HP:0001176
27	abnormality of cardiovascular system morphology ³⁰	Very rare (1%)	HP:0030680
28	cafe-au-lait spot ³⁰	Very rare (1%)	HP:0000957
29	long foot ³⁰	Very rare (1%)	HP:0001833
30	neurofibrosarcoma ³⁰	Very rare (1%)	HP:0100697
31	subcutaneous neurofibromas ³⁰	Very rare (1%)	HP:0100698
32	focal t2 hyperintense basal ganglia lesion ³⁰	Very rare (1%)	HP:0007183
33	axillary freckling ³⁰	Very rare (1%)	HP:0000997
34	optic nerve glioma ³⁰	Very rare (1%)	HP:0009734
35	abnormal heart morphology ³⁰		HP:0001627
36	neurofibromas ³⁰		HP:0001067
37	generalized hypotonia ³⁰		HP:0001290
38	overgrowth ³⁰		HP:0001548
39	inguinal freckling ³⁰		HP:0030052

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
hypertelorism
lisch nodules (iris hamartomas) (93%)

Skin Nails Hair Skin:
axillary freckling
inguinal freckling
neurofibromas, subcutaneous (76%)
neurofibromas, cutaneous (86%)
plexiform neurofibroma (76%)
more

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (31%)

Head And Neck Head:
macrocephaly (39%)

Skeletal:
bone cysts (50%)
increased joint laxity (72%)

Skeletal Hands:
large hands (46%)
accelerated carpal bone age

Muscle Soft Tissue:
hypotonia (45%)
soft fleshy palms (50%)

Neurologic Behavioral Psychiatric Manifestations:
attention-deficit hyperactivity disorder (33%)
attention difficulties (73%)

Head And Neck Face:
facial asymmetry
coarse facies
facial dysmorphism (in up to 90%)

Growth Other:
generalized overgrowth

Growth Height:
tall stature (46%)

Cardiovascular Heart:
congenital heart defects (21%)

Skeletal Spine:
scoliosis (43%)

Skeletal Feet:
large feet (46%)
pes cavus (17%)

Neurologic Central Nervous System:
delayed cognitive development/learning disabilities (93%)
mental retardation (38%)
speech difficulties (48%)
spinal neurofibromas (64%)
brain mri shows t2-weighted hyperintensities (17%)

Neoplasia:
optic glioma (19%)
malignant peripheral nerve sheath tumors (21%)

Clinical features from OMIM®:

613675 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Search Clinical Trials, NIH Clinical Center for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

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Genetic Tests for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Genetic tests related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

#	Genetic test	Affiliating Genes
1	Chromosome 17q11.2 Deletion Syndrome, 1.4mb ²⁸

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Anatomical Context for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Organs/tissues related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

MalaCards : Heart, Bone, Brain

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Publications for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Articles related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

(show all 50)

#	Title	Authors	PMID	Year
1	ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome. ⁶² ⁵⁷	Venturin M...Riva P	24711647	2014
2	Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene. ⁶² ⁵⁷	Gervasini C...Riva P	15676286	2005
3	NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. ⁶² ⁵⁷	Riva P...Larizza L	10631140	2000
4	Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. ⁵⁷	Wright CF...Weedon MN	30665703	2019
5	Prevalence and architecture of de novo mutations in developmental disorders. ⁵⁷	Deciphering Developmental Disorders Study	28135719	2017
6	Analysis of protein-coding genetic variation in 60,706 humans. ⁵⁷	Lek M...Exome Aggregation Consortium	27535533	2016
7	Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. ⁵⁷	Roehl AC...Kehrer-Sawatzki H	20725927	2010
8	Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. ⁵⁷	Mautner VF...Kehrer-Sawatzki H	20543202	2010
9	Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. ⁵⁷	Steinmann K...Kehrer-Sawatzki H	17999360	2007
10	Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. ⁵⁷	Douglas J...Rahman N	17632510	2007
11	High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. ⁵⁷	Kehrer-Sawatzki H...Mautner VF	15257518	2004
12	Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. ⁵⁷	Venturin M...Riva P	14729829	2004
13	Elevated risk for MPNST in NF1 microdeletion patients. ⁵⁷	De Raedt T...Legius E	12660952	2003
14	Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. ⁵⁷	Jenne DE...Kehrer-Sawatzki H	11468690	2001
15	Recombination hotspot in NF1 microdeletion patients. ⁵⁷	Lopez-Correa C...Legius E	11440991	2001
16	Unequal meiotic crossover: a frequent cause of NF1 microdeletions. ⁵⁷	Lopez Correa C...Legius E	10775528	2000
17	NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. ⁵⁷	Dorschner MO...Stephens K	10587576	2000
18	Refined mapping of the human serotonin transporter (SLC6A4) gene within 17q11 adjacent to the CPD and NF1 genes. ⁵⁷	Shen S...Harmar AJ	10713891	2000
19	Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2. ⁵⁷	Streubel B...Rehder H	10528240	1999
20	Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. ⁵⁷	Rasmussen SA...Wallace MR	9643287	1998
21	Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. ⁵⁷	Upadhyaya M...Cooper DN	9654211	1998
22	Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome. ⁵⁷	van Asperen CJ...Hennekam RC	9598729	1998
23	Do NF1 gene deletions result in a characteristic phenotype? ⁵⁷	Tonsgard JH...Lindgren V	9375928	1997
24	Deletion of the entire NF1 gene causing distinct manifestations in a family. ⁵⁷	Wu BL...Korf BR	9066892	1997
25	Somatic mosaicism for deletion of the entire NF1 gene identified by FISH. ⁵⁷	Wu BL...Korf BR	9048923	1997
26	Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? ⁵⁷	Cnossen MH...Niermeijer MF	9143927	1997
27	Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome. ⁵⁷	Riva P...Larizza L	8931693	1996
28	A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. ⁵⁷	Upadhyaya M...Hughes HE	8929953	1996
29	Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations. ⁵⁷	Wu BL...Korf BR	8585580	1995
30	Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. ⁵⁷	Kayes LM...Stephens K	8116612	1994
31	The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease. ⁶²	Kehrer-Sawatzki H...Pfeiffer C	35246941	2022
32	Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions. ⁶²	Kehrer-Sawatzki H...Cooper DN	34535841	2021
33	A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome. ⁶²	Santoro C...Piluso G	33722742	2021
34	NF1 microdeletion syndrome: a phenotypical characterization of a rare case of neurofibromatosis type 1. ⁶²	Lopes J...Osorio Ferreira E	32566957	2020
35	NF1 microdeletion syndrome: case report of two new patients. ⁶²	Serra G...Falsaperla R	31703719	2019
36	Rare NF1 microdeletion syndrome in an Omani patient. ⁶²	Al-Araimi M...Mula-Abed WA	30564341	2018
37	Isolated Absent Thelarche in a Patient With Neurofibromatosis Type 1 and Acromegaly. ⁶²	Martini AE...DeCherney AH	29215515	2018
38	Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth. ⁶²	Ferrari L...Riva P	28776093	2017
39	Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome. ⁶²	Tassano E...Ronchetto P	28605748	2017
40	[Prenatal genetic diagnosis for a fetus with atypical neurofibromatosis type 1 microdeletion]. ⁶²	Lin S...Luo Y	27060318	2016
41	A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features. ⁶²	Xie B...Shen Y	27247625	2016
42	NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. ⁶²	Moles KJ...Shaffer LG	22241097	2012
43	Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports. ⁶²	Vogt J...Kehrer-Sawatzki H	22151963	2011
44	Overexpression of Jazf1 induces cardiac malformation through the upregulation of pro-apoptotic genes in mice. ⁶²	Bae KB...Ryoo ZY	21221781	2011
45	NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? ⁶²	Grisart B...Destree A	18183042	2008
46	Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients. ⁶²	Piddubnyak V...Poyet JL	17380155	2007
47	Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature. ⁶²	Mensink KA...Babovic-Vuksanovic D	16467218	2006
48	Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. ⁶²	Venturin M...Riva P	16138909	2005
49	Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions. ⁶²	Venturin M...Riva P	15103551	2004
50	Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers. ⁶²	Bentivegna A...Riva P	11479735	2001

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Genes for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Genes related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DEL17Q11.2	Chromosome 17q11.2 Deletion Syndrome	Genetic Locus	500	Structural variation ⁵⁷

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Variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

ClinVar genetic disease variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	overlap with 14 genes	GRCh37/hg19 17q11.2(chr17:28941066-30326958)x1	CN LOSS	Pathogenic	666441		GRCh37: 17:28941066-30326958 GRCh38:
2	overlap with 15 genes	GRCh37/hg19 17q11.2(chr17:28993036-30412788)	CN LOSS	Pathogenic	1703547		GRCh37: 17:28993036-30412788 GRCh38:
3	RNF135	NM_032322.4(RNF135):c.575C>T (p.Thr192Ile)	SNV	Uncertain Significance	1032948	rs1907708509	GRCh37: 17:29315020-29315020 GRCh38: 17:30988002-30988002

Copy number variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	109502	17	26446120	26728821	Microdeletion	NF1	NF1 microdeletion syndrome

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Expression for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Search GEO for disease gene expression data for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb.

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Pathways for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

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GO Terms for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

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Sources for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

¹ BitterDB

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CHR581 MIFTS: 29	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb Categories: Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Aliases & Classifications for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

MalaCards integrated aliases for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Related Diseases for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Diseases related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

Symptoms & Phenotypes for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Human phenotypes related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Genetic Tests for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Genetic tests related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

Anatomical Context for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Organs/tissues related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

Publications for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Articles related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

Genes for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Genes related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb (1 elite genes):

Variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

ClinVar genetic disease variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

Copy number variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb from CNVD:

Expression for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Pathways for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

GO Terms for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Sources for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb