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Term:
17q21.31 microdeletion syndrome
(EFO:Orphanet:363958)
Annotations:
Rat: (0)
Mouse: (0)
Human: (0)
Chinchilla: (0)
Bonobo: (0)
Dog: (0)
Squirrel: (0)
Pig: (0)
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Parent Terms
Term With Siblings
Child Terms
Partial autosomal monosomy
+
Rare genetic developmental defect during embryogenesis
+
10p11.21p12.31 microdeletion syndrome
14q22q23 microdeletion syndrome
15q11.2 microdeletion syndrome
15q13.3 microdeletion syndrome
15q24 microdeletion syndrome
17p13.3 microduplication syndrome
17q11 microdeletion syndrome
17q12 microdeletion syndrome
17q21.31 microdeletion syndrome
17q21.31 microduplication syndrome
19p13.13 microdeletion syndrome
19q13.11 microdeletion syndrome
1p36 deletion syndrome
21q22.13q22.2 microdeletion syndrome
3q29 microdeletion syndrome
4q21 microdeletion syndrome
5p13 microduplication syndrome
8q21.11 microdeletion syndrome
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
Adult-onset autosomal recessive sideroblastic anemia
Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
Agnathia - holoprosencephaly - situs inversus
Alar cartilages hypoplasia - coloboma - telecanthus
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Anonychia - microcephaly
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
Aortic arch anomaly - peculiar facies - intellectual disability
Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
Arachnodactyly - abnormal ossification - intellectual disability
Arrhinia - choanal atresia - microphthalmia
Aymé-Gripp syndrome
Baraitser-Winter syndrome
Blepharophimosis-intellectual disability syndrome
+
Brachydactyly - mesomelia - intellectual disability - heart defects
Brachydactyly - nystagmus - cerebellar ataxia
Brain malformation - congenital heart disease - postaxial polydactyly
Branchio-otic syndrome
Branchio-skeleto-genital syndrome
Cantrell pentalogy
Capillary malformation - arteriovenous malformation
Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Cardiomyopathy - hypotonia - lactic acidosis
Cataract - deafness - hypogonadism
Caudal appendage - deafness
Cerebro-facio-articular syndrome
Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Congenital disorder of glycosylation with developmental anomaly
+
Congenitally uncorrected transposition of the great arteries
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Cortical blindness - intellectual disability - polydactyly
Craniodigital syndrome - intellectual disability
Cryptomicrotia - brachydactyly - excess fingertip arch
Cryptorchidism - arachnodactyly - intellectual disability
Deafness - genital anomalies - metacarpal and metatarsal synostosis
Deafness - intellectual disability, Martin-Probst type
Delayed speech - facial asymmetry - strabismus - ear lobe creases
Dermato-cardio-skeletal syndrome, Borrone type
Developmental malformations - deafness - dystonia
Diaphragmatic defect - limb deficiency - skull defect
Dislocation of the hip - dysmorphism
Double outlet right ventricle with doubly committed ventricular septal defect
Double outlet right ventricle with subaortic ventricular septal defect
Dwarfism - intellectual disability - eye abnormality
Early infantile epileptic encephalopathy without suppression burst
Epilepsy - microcephaly - skeletal dysplasia
Epilepsy telangiectasia
Epileptic encephalopathy with global cerebral demyelination
Epiphyseal dysplasia - hearing loss - dysmorphism
Facial dysmorphism - shawl scrotum - joint laxity
Fallot complex - intellectual disability - growth delay
Genetic branchial arch or oral-acral syndrome
+
Genetic central nervous system malformation
+
Genetic congenital limb malformation
+
Genetic cranial malformation
+
Genetic developmental defect of the eye
+
Genetic digestive tract malformation
+
Genetic disorder of sex development
+
Genetic malformation syndrome with odontal and/or periodontal component
+
Genetic malformation syndrome with short stature
+
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability
+
Genetic neurovascular malformation
+
Genetic overgrowth/obesity syndrome
+
Genetic renal or urinary tract malformation
+
Genetic respiratory or mediastinal malformation
+
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
+
Gerbode defect
Heart defect - round face - congenital developmental delay
Heart defect-tongue hamartoma-polysyndactyly syndrome
Heart defects - limb shortening
Holoprosencephaly - postaxial polydactyly
Hyaluronidase deficiency
Hydrocephaly - tall stature - joint laxity
Hypertelorism - hypospadias - polysyndactyly syndrome
Hypoparathyroidism - deafness - renal disease
Hypospadias - intellectual disability, Goldblatt type
Hypotonia - cystinuria type 1
+
Intellectual disability - craniofacial dysmorphism - cryptorchidism
Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
Intellectual disability - polydactyly - uncombable hair
Intellectual disability - short stature - hypertelorism
intellectual disability - sparse hair - brachydactyly
Isolated ATP synthase deficiency
Isolated CoQ-cytochrome C reductase deficiency
Isolated cytochrome C oxidase deficiency
Langer-Giedion syndrome
Leprechaunism
LIG4 syndrome
Lipoic acid biosynthesis defect
+
Lymphedema - cleft palate
Macrocephaly - short stature - paraplegia
Macrocephaly - spastic paraplegia - dysmorphism
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Macrostomia - preauricular tags - external ophthalmoplegia
Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Malformation syndrome with connective tissue involvement
+
Malformation syndrome with hamartosis
+
Malformation syndrome with skin/mucosae involvement
+
Marfanoid habitus - intellectual disability, autosomal recessive
Micro syndrome
Microcephaly - albinism - digital anomalies
Microcephaly - cardiac defect - lung malsegmentation
Microcephaly - deafness - intellectual disability
Microcephaly - glomerulonephritis - marfanoid habitus
Microcephaly - seizures - intellectual disability - heart disease
Microduplication Xp11.22-p11.23 syndrome
Microphthalmia - ankyloblepharon - intellectual disability
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
+
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
+
Mohr-Tranebjaerg syndrome
Monosomy 5p
Mucocutaneous venous malformations
Multinodular goiter - cystic kidney - polydactyly
Multiple sulfatase deficiency
Multiple ventricular septal defects
Muscular hypertrophy - hepatomegaly - polyhydramnios
Müllerian duct anomalies - limb anomalies
Night blindness - skeletal anomalies - dysmorphism
Non-distal monosomy 7p
Oculo-oto-facial dysplasia
Ophthalmoplegia - intellectual disability - lingua scrotalis
Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
Paraplegia - intellectual disability - hyperkeratosis
Partial deletion of the long arm of chromosome 1
+
Partial deletion of the long arm of chromosome 18
Partial deletion of the long arm of chromosome 22
+
Partial deletion of the short arm of chromosome 12
Partial deletion of the short arm of chromosome 18
+
Partial deletion of the short arm of chromosome 4
Partial deletion of the short arm of chromosome 9
+
Partial monosomy of the short arm of chromosome 17
+
Polysyndactyly - cardiac malformation
Posterior fusion of lumbosacral vertebrae - blepharoptosis
Preaxial polydactyly - colobomata - intellectual disability
Prominent glabella - microcephaly - hypogenitalism
Pterygium colli - intellectual disability - digital anomalies
Ptosis - syndactyly - learning difficulties
Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
Rare genetic bone development disorder
+
Rare otorhinolaryngological malformation
+
Sanjad-Sakati syndrome
Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
Short stature - craniofacial anomalies - genital hypoplasia
Short stature - valvular heart disease - characteristic facies
Short stature - webbed neck - heart disease
Short tarsus - absence of lower eyelashes
Short ulna - dysmorphism - hypotonia - intellectual disability
sialidosis type II
+
Single ventricular septal defect
Situs inversus totalis
Split hand - urinary anomalies - spina bifida
Syndromic X-linked intellectual disability due to JARID1C mutation
Taussig-Bing syndrome
Telecanthus - hypertelorism - strabismus - pes cavus
TELO2-related intellectual disability-neurodevelopmental disorder
Temple-Baraitser syndrome
Trigonocephaly - bifid nose - acral anomalies
Unspecified mitochondrial disorder
Upper limb defect - eye and ear abnormalities
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
X-linked creatine transporter deficiency
X-linked intellectual disability - cubitus valgus - dysmorphism
X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
+
X-linked intellectual disability, Abidi type
X-linked intellectual disability, Shashi type
X-linked intellectual disability, Siderius type
X-linked intellectual disability, Vitale type
X-linked intellectual disability, Wittwer type
Zellweger syndrome
Synonyms
Exact Synonyms:
Del(17)(q21.31) ; Monosomy 17q21.31
Xrefs:
ICD10:Q93.5