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Ontology Browser

Term:
chromosome 17p13.3 duplication syndrome (DOID:0060432)
Annotations: Rat: (5) Mouse: (5) Human: (5) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5)
Parent Terms Term With Siblings Child Terms
16Q24.3 Microdeletion Syndrome  
3MC syndrome 3  
6q+ Syndrome, Partial 
7p2 Monosomy Syndrome 
9q22.3 Microdeletion 
Abuse Dwarfism Syndrome 
AGAT deficiency  
Agenesis of Corpus Callosum +   
Aicardi-Goutieres syndrome +   
Al Gazali Sabrinathan Nair Syndrome 
Angelman syndrome  
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Athabaskan brainstem dysgenesis syndrome  
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beckwith-Wiedemann syndrome +   
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
branchiootorenal syndrome +   
Central Nervous System Cysts +   
Central Nervous System Vascular Malformations +   
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Hypoplasia +   
Cerebellofaciodental Syndrome  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chromosomal duplication syndrome +   
Chromosome 10q Duplication Syndrome 
Chromosome 13q-Mosaicism 
chromosome 13q14 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 16p11.2 duplication syndrome 
chromosome 16p13.3 duplication syndrome 
chromosome 17p13.3 duplication syndrome  
chromosome 17q12 duplication syndrome 
chromosome 17q21.31 duplication syndrome 
chromosome 18p deletion syndrome 
chromosome 1p32-p31 deletion syndrome  
chromosome 1q21.1 duplication syndrome 
Chromosome 22, Monosome Mosaic 
chromosome 22q11.2 microduplication syndrome 
chromosome 22q13 duplication syndrome 
chromosome 2q31.1 duplication syndrome 
Chromosome 3 Duplication Syndrome 
chromosome 3q29 microdeletion syndrome 
chromosome 3q29 microduplication syndrome 
Chromosome 4, 4q Terminal Deletion Syndrome 
Chromosome 4q- Syndrome 
chromosome 5p13 duplication syndrome 
Chromosome 6 Ring Syndrome 
Chromosome 7 Ring Syndrome 
Chromosome Deletion +   
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xq26.3 Duplication Syndrome  
Chromosome Xq28 Duplication Syndrome 
Cohen syndrome  
complex cortical dysplasia with other brain malformations +   
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Cornelia de Lange syndrome +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Dandy-Walker syndrome +   
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Deletion 13q Syndrome, Partial 
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Distal Trisomy 10q Syndrome 
Drachtman Weinblatt Sitarz Syndrome 
Duplication 4p Syndrome 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Edinburgh Malformation Syndrome 
Emanuel Syndrome 
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
HEART AND BRAIN MALFORMATION SYNDROME  
hereditary sensory neuropathy +   
Heyn-Sproul-Jackson Syndrome  
holoprosencephaly +   
hypermethioninemia due to adenosine kinase deficiency  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Isodicentric Chromosome 15 Syndrome  
Kat6a Syndrome  
Keppen-Lubinsky Syndrome  
Lamb-Shaffer Syndrome  
Loucks-Innes Syndrome  
Luscan-Lumish syndrome  
Median-Ulnar Nerve Communications 
Mental Retardation, Fra12a Type  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Microphthalmia, Syndromic 3  
Microphthalmia, Syndromic 6  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Monosomy 7 of Bone Marrow 
Mosaic Variegated Aneuploidy Syndrome +   
neural tube defect +   
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
neurodevelopmental disorder with midbrain and hindbrain malformations  
NF1 Microduplication Syndrome 
Non-Lissencephalic Cortical Dysplasia 
Obesity, Hyperphagia, and Developmental Delay  
Ogden syndrome  
Oliver-McFarlane syndrome  
Osteosclerotic Metaphyseal Dysplasia  
Otodental Dysplasia 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 
Pallister Killian Syndrome 
Partial Duplication 15q Syndrome 
Partial Trisomy 3q Syndrome 
partial trisomy distal 4q 
Partington Anderson Syndrome 
Patau syndrome 
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Pierpont syndrome  
Prader-Willi syndrome +   
Pseudo-TORCH Syndrome +   
Rajab Syndrome  
Recombinant Chromosome 8 Syndrome 
Refsum Disease with Increased Pipecolic Acidemia 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Ring Chromosome 4 Syndrome 
Roifman-Chitayat Syndrome 
Rubinstein-Taybi syndrome +   
Schisis Association 
Schmid-Fraccaro Syndrome 
septooptic dysplasia +   
Sex Chromosome Disorders +   
Short Stature, Developmental Delay, and Congenital Heart Defects  
SIDDIQI SYNDROME  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silver-Russell syndrome +   
Smith-Magenis syndrome +   
SNIJDERS BLOK-FISHER SYNDROME  
Sotos syndrome +   
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
succinic semialdehyde dehydrogenase deficiency  
Ter Haar Syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Tetrasomy 
Thrombocytopenia 2  
Trisomy +   
Trisomy 18-Like Syndrome 
Trisomy 22 Mosaicism Syndrome 
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
VERVERI-BRADY SYNDROME  
WAGR syndrome +   
Warburton Anyane Yeboa Syndrome 
WEISS-KRUSZKA SYNDROME  

Synonyms
Exact Synonyms: 17p13.3 duplication syndrome ;   17p13.3 microduplication syndrome ;   chromosome 17p13.3 centromeric duplication syndrome ;   trisomy 17p13.3
Primary IDs: MESH:C567705
Alternate IDs: OMIM:613215 ;   RDO:0015701
Xrefs: ORDO:217385

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.