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Diagnosis of developmental abnormalities (Whole exome)

Laboratoire de génétique Biologique
Service de génétique
CHU de Poitiers
2 Rue de la Milétrie - CS 90577
86000 POITIERS
FRANCE
Director of laboratory : Dr Frédéric BILAN
More information

Phone : 33 (0)5 49 45 49 71
Additional Phone : -
Fax : 33 (0)5 49 45 49 72
Website
Contact
email

Last update: April 2022

Responsible of diagnostic test

Dr Frédéric BILAN

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

Whole Exome Sequencing (WES)

List of diseases and genes

List of diseases tested (987)

12p12.1 microdeletion syndrome

12q14 microdeletion syndrome

12q15q21.1 microdeletion syndrome

14q11.2 microduplication syndrome

15q11q13 microduplication syndrome

15q13.3 microdeletion syndrome

15q14 microdeletion syndrome

15q24 microdeletion syndrome

16q24.3 microdeletion syndrome

17p11.2 microduplication syndrome

17p13.3 microduplication syndrome

17q11 microdeletion syndrome

17q11.2 microduplication syndrome

17q12 microdeletion syndrome

17q21.31 microdeletion syndrome

17q23.1q23.2 microdeletion syndrome

17q24.2 microdeletion syndrome

19p13.3 microduplication syndrome

1p21.3 microdeletion syndrome

1p31p32 microdeletion syndrome

1p36 deletion syndrome

1q44 microdeletion syndrome

20p12.3 microdeletion syndrome

21q22.11q22.12 microdeletion syndrome

22q11.2 deletion syndrome

22q11.2 duplication syndrome

2p21 microdeletion syndrome

2p21 microdeletion syndrome without cystinuria

2q23.1 microdeletion syndrome

2q24 microdeletion syndrome

2q32q33 microdeletion syndrome

2q37 microdeletion syndrome

45,X/46,XY mixed gonadal dysgenesis

46,XX gonadal dysgenesis

46,XX ovotesticular disorder of sex development

46,XX testicular disorder of sex development

46,XY complete gonadal dysgenesis

46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

46,XY disorder of sex development due to isolated 17,20-lyase deficiency

46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

46,XY partial gonadal dysgenesis

5p13 microduplication syndrome

5q14.3 microdeletion syndrome

5q35 microduplication syndrome

6q terminal deletion syndrome

6q16 microdeletion syndrome

6q25 microdeletion syndrome

7q31 microdeletion syndrome

8p11.2 deletion syndrome

8p23.1 microdeletion syndrome

8q24.3 microdeletion syndrome

9q33.3q34.11 microdeletion syndrome

AICA-ribosiduria

Aarskog-Scott syndrome

Ablepharon macrostomia syndrome

Abruzzo-Erickson syndrome

Acquired schizencephaly

Acro-renal-ocular syndrome

Acrocallosal syndrome

Acrofacial dysostosis, Rodríguez type

Acrofacial dysostosis, Weyers type

Acromelic frontonasal dysplasia

Adams-Oliver syndrome

Adult-onset autosomal dominant leukodystrophy

Agnathia-holoprosencephaly-situs inversus syndrome

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to a JAG1 point mutation

Alagille syndrome due to a NOTCH2 point mutation

Alazami syndrome

Alobar holoprosencephaly

Alpha-thalassemia-X-linked intellectual disability syndrome

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

Alström syndrome

Amelocerebrohypohidrotic syndrome

Amish lethal microcephaly

Angelman syndrome due to maternal 15q11q13 deletion

Angelman syndrome due to paternal uniparental disomy of chromosome 15

Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

Aniridia-cerebellar ataxia-intellectual disability syndrome

Anophthalmia/microphthalmia-esophageal atresia syndrome

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

Anterior segment developmental anomaly

Antley-Bixler syndrome

Arnold-Chiari malformation type I

Arthrogryposis-anterior horn cell disease syndrome

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

Arthrogryposis-renal dysfunction-cholestasis syndrome

Ataxia-hypogonadism-choroidal dystrophy syndrome

Atelosteogenesis type II

Atelosteogenesis type III

Atrial septal defect, ostium primum type

Atrial septal defect, ostium secundum type

Atrial septal defect, sinus venosus type

Atrial septal defect-atrioventricular conduction defects syndrome

Atypical Werner syndrome

Atypical hypotonia-cystinuria syndrome

Auriculocondylar syndrome

Autism spectrum disorder due to AUTS2 deficiency

Autism spectrum disorder-epilepsy-arthrogryposis syndrome

Autosomal dominant Alport syndrome

Autosomal dominant Robinow syndrome

Autosomal dominant deafness-onychodystrophy syndrome

Autosomal dominant hypohidrotic ectodermal dysplasia

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Autosomal dominant multiple pterygium syndrome

Autosomal dominant otospondylomegaepiphyseal dysplasia

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Autosomal dominant popliteal pterygium syndrome

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

Autosomal dominant primary microcephaly

Autosomal dominant spondylocostal dysostosis

Autosomal recessive Alport syndrome

Autosomal recessive Robinow syndrome

Autosomal recessive Stickler syndrome

Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive hypohidrotic ectodermal dysplasia

Autosomal recessive multiple pterygium syndrome

Autosomal recessive primary microcephaly

Autosomal recessive spondylocostal dysostosis

Axenfeld anomaly

Axenfeld-Rieger syndrome

Aymé-Gripp syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

BRESEK syndrome

Bainbridge-Ropers syndrome

Baller-Gerold syndrome

Bannayan-Riley-Ruvalcaba syndrome

Baraitser-Winter cerebrofrontofacial syndrome

Barber-Say syndrome

Bardet-Biedl syndrome

Bartsocas-Papas syndrome

Basel-Vanagaite-Smirin-Yosef syndrome

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

Beckwith-Wiedemann syndrome due to CDKN1C mutation

Beckwith-Wiedemann syndrome due to NSD1 mutation

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

Bilateral frontoparietal polymicrogyria

Bilateral generalized polymicrogyria

Bilateral microtia-deafness-cleft palate syndrome

Bilateral multicystic dysplastic kidney

Bilateral parasagittal parieto-occipital polymicrogyria

Bilateral perisylvian polymicrogyria

Biliary atresia with splenic malformation syndrome

Bladder exstrophy

Blepharo-cheilo-odontic syndrome

Blepharophimosis-intellectual disability syndrome, MKB type

Blepharophimosis-intellectual disability syndrome, SBBYS type

Blepharophimosis-ptosis-epicanthus inversus syndrome plus

Blepharophimosis-ptosis-epicanthus inversus syndrome type 1

Blepharophimosis-ptosis-epicanthus inversus syndrome type 2

Blue rubber bleb nevus

Bohring-Opitz syndrome

Borjeson-Forssman-Lehmann syndrome

Bosley-Salih-Alorainy syndrome

Bowen-Conradi syndrome

Brachydactyly type A1

Brachydactyly type A2

Brachydactyly type B1

Brachydactyly type B2

Brachydactyly type C

Brachydactyly type E

Brachydactyly-arterial hypertension syndrome

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-short stature-retinitis pigmentosa syndrome

Brachydactyly-syndactyly, Zhao type

Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome

Brain-lung-thyroid syndrome

Branchio-oculo-facial syndrome

Branchiootic syndrome

Branchioskeletogenital syndrome

Burn-McKeown syndrome

CDKL5-deficiency disorder

CEDNIK syndrome

CHARGE syndrome

CLOVES syndrome

CTCF-related neurodevelopmental disorder

Campomelic dysplasia

Camptodactyly-tall stature-scoliosis-hearing loss syndrome

Cantú syndrome

Capillary malformation-arteriovenous malformation

Cardiofaciocutaneous syndrome

Cardiospondylocarpofacial syndrome

Carey-Fineman-Ziter syndrome

Carney complex-trismus-pseudocamptodactyly syndrome

Carpenter syndrome

Cataract-intellectual disability-hypogonadism syndrome

Cataract-microcornea syndrome

Catel-Manzke syndrome

Caudal regression syndrome

Cenani-Lenz syndrome

Cerebellar-facial-dental syndrome

Cerebrocostomandibular syndrome

Cerebrofacioarticular syndrome

Cerebrofaciothoracic dysplasia

Charcot-Marie-Tooth disease type 1A

Christianson syndrome

Chudley-McCullough syndrome

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Cleft hard palate

Cleft lip and alveolus

Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

Cleft lip/palate

Cleft lip/palate-ectodermal dysplasia syndrome

Cockayne syndrome type 1

Cockayne syndrome type 2

Cockayne syndrome type 3

Coffin-Lowry syndrome

Coffin-Siris syndrome

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

Cole-Carpenter syndrome

Coloboma of choroid and retina

Coloboma of eye lens

Coloboma of eyelid

Coloboma of iris

Coloboma of macula

Coloboma of optic disc

Colobomatous microphthalmia

Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

Combined immunodeficiency with faciooculoskeletal anomalies

Combined immunodeficiency-enteropathy spectrum

Complete androgen insensitivity syndrome

Complete atrioventricular septal defect with ventricular hypoplasia

Complete atrioventricular septal defect-tetralogy of Fallot

Complete cryptophthalmia

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital bilateral absence of vas deferens

Congenital cataracts-facial dysmorphism-neuropathy syndrome

Congenital communicating hydrocephalus

Congenital contractural arachnodactyly

Congenital diaphragmatic hernia

Congenital intrauterine infection-like syndrome

Congenital lethal myopathy, Compton-North type

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

Congenital muscular dystrophy, Fukuyama type

Congenital non-communicating hydrocephalus

Congenital primary aphakia

Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

Congenital short bowel syndrome

Congenital sialidosis type 2

Congenital vertebral-cardiac-renal anomalies syndrome

Congenital vertical talus, bilateral

Congenital vertical talus, unilateral

Congenitally uncorrected transposition of the great arteries

Congenitally uncorrected transposition of the great arteries with cardiac malformation

Congenitally uncorrected transposition of the great arteries with coarctation

Corneal dystrophy-perceptive deafness syndrome

Cornelia de Lange syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Costello syndrome

Cowden syndrome

Coxopodopatellar syndrome

Cranioectodermal dysplasia

Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

Craniofacial-deafness-hand syndrome

Craniofrontonasal dysplasia

Craniolenticulosutural dysplasia

Craniorachischisis

Craniosynostosis, Boston type

Craniosynostosis-dental anomalies

Craniosynostosis-microretrognathia-severe intellectual disability syndrome

Crouzon syndrome

Crouzon syndrome-acanthosis nigricans syndrome

Currarino syndrome

Curry-Jones syndrome

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Cutis marmorata telangiectatica congenita

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

Deafness with labyrinthine aplasia, microtia, and microdontia

Deafness-enamel hypoplasia-nail defects syndrome

Deafness-infertility syndrome

Deafness-lymphedema-leukemia syndrome

Developmental and speech delay due to SOX5 deficiency

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

Developmental malformations-deafness-dystonia syndrome

Diaphanospondylodysostosis

Diaphragmatic hernia-short bowel-asplenia syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Distal 16p11.2 microdeletion syndrome

Distal 17p13.3 microdeletion syndrome

Distal 22q11.2 microdeletion syndrome

Distal arthrogryposis type 1

Distal arthrogryposis type 5D

Distal deletion 12p

Distal deletion 15q

Distal deletion 1q

Donnai-Barrow syndrome

Dubowitz syndrome

EVEN-plus syndrome

Ear-patella-short stature syndrome

Early-onset X-linked optic atrophy

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Early-onset parkinsonism-intellectual disability syndrome

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

Ebstein malformation of the tricuspid valve

Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

Endocrine-cerebro-osteodysplasia syndrome

Epithelioid hemangioendothelioma

External auditory canal aplasia/hypoplasia

FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

FG syndrome type 1

FLNA-related X-linked myxomatous valvular dysplasia

FOXG1 syndrome due to 14q12 microdeletion

FRAXE intellectual disability

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

Familial adenomatous polyposis due to 5q22.2 microdeletion

Familial cerebral cavernous malformation

Familial clubfoot due to 17q23.1q23.2 microduplication

Familial clubfoot due to 5q31 microdeletion

Familial clubfoot due to PITX1 point mutation

Familial congenital nasolacrimal duct obstruction

Familial digital arthropathy-brachydactyly

Familial infantile bilateral striatal necrosis

Familial isolated congenital asplenia

Familial mitral valve prolapse

Familial patent arterial duct

Familial porencephaly

Familial scaphocephaly syndrome, McGillivray type

Familial schizencephaly

Familial thoracic aortic aneurysm and aortic dissection

Familial vesicoureteral reflux

Feingold syndrome type 1

Feingold syndrome type 2

Female restricted epilepsy with intellectual disability

Fetal akinesia deformation sequence

Fetal encasement syndrome

Fibular aplasia-complex brachydactyly syndrome

Filippi syndrome

Focal dermal hypoplasia

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Fowler vasculopathy

Fragile X syndrome

Fraser syndrome

Freeman-Sheldon syndrome

Frontometaphyseal dysplasia

Frontonasal dysplasia-alopecia-genital anomalies syndrome

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

Fuhrmann syndrome

Full NF2-related schwannomatosis

Full schwannomatosis

Gabriele-de Vries syndrome

Galloway-Mowat syndrome

Genitopatellar syndrome

Gingival fibromatosis-hypertrichosis syndrome

Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

Glomuvenous malformation

Goldberg-Shprintzen megacolon syndrome

Goldmann-Favre syndrome

Gollop-Wolfgang complex

Gordon syndrome

Gorlin syndrome

Gorlin-Chaudhry-Moss syndrome

Grange syndrome

Greig cephalopolysyndactyly syndrome

Growth retardation-mild developmental delay-chronic hepatitis syndrome

Guttmacher syndrome

HSD10 disease, atypical type

Haim-Munk syndrome

Hamel cerebro-palato-cardiac syndrome

Hand-foot-genital syndrome

Hao-Fountain syndrome due to 16p13.2 microdeletion

Hartsfield syndrome

Heart defect-tongue hamartoma-polysyndactyly syndrome

Heart-hand syndrome, Slovenian type

Hemihyperplasia-multiple lipomatosis syndrome

Hemimegalencephaly

Hennekam syndrome

Hereditary hemorrhagic telangiectasia

Hereditary neuropathy with liability to pressure palsies

Hidrotic ectodermal dysplasia

Hirschsprung disease-ganglioneuroblastoma syndrome

Holt-Oram syndrome

Hoyeraal-Hreidarsson syndrome

Hutchinson-Gilford progeria syndrome

Hydranencephaly

Hydrocephalus with stenosis of the aqueduct of Sylvius

Hyperekplexia-epilepsy syndrome

Hyperphosphatasia-intellectual disability syndrome

Hypodontia-dysplasia of nails syndrome

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Hypohidrotic ectodermal dysplasia with immunodeficiency

Hypomyelination neuropathy-arthrogryposis syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoplastic left heart syndrome

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Hypotonia-cystinuria syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome

Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

Incontinentia pigmenti

Infantile multisystem neurologic-endocrine-pancreatic disease

Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

Infantile-onset X-linked spinal muscular atrophy

Intellectual disability syndrome due to a DYRK1A point mutation

Intellectual disability, Birk-Barel type

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome

Intellectual disability-developmental delay-contractures syndrome

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome

Ischiovertebral syndrome

Isolated Dandy-Walker malformation

Isolated Dandy-Walker malformation with hydrocephalus

Isolated Dandy-Walker malformation without hydrocephalus

Isolated Klippel-Feil syndrome

Isolated Pierre Robin syndrome

Isolated anencephaly

Isolated aniridia

Isolated biliary atresia

Isolated cleft lip

Isolated congenital adermatoglyphia

Isolated congenital breast hypoplasia/aplasia

Isolated congenital digital clubbing

Isolated congenital megalocornea

Isolated congenital sclerocornea

Isolated congenitally uncorrected transposition of the great arteries

Isolated exencephaly

Isolated hemihyperplasia

Isolated megalencephaly

Isolated split hand-split foot malformation

Jackson-Weiss syndrome

Jacobsen syndrome

Jalili syndrome

Joubert syndrome

Joubert syndrome with hepatic defect

Joubert syndrome with ocular defect

Joubert syndrome with oculorenal defect

Joubert syndrome with renal defect

Juvenile polyposis of infancy

Juvenile sialidosis type 2

KDM5C-related syndromic X-linked intellectual disability

Kabuki syndrome

Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation

Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion

Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14

Kearns-Sayre syndrome

Keipert syndrome

Keratoderma hereditarium mutilans

Keratoderma hereditarium mutilans with ichthyosis

Keutel syndrome

King-Denborough syndrome

Kleefstra syndrome due to 9q34 microdeletion

Kleefstra syndrome due to a point mutation

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Klippel-Trénaunay syndrome

Knobloch syndrome

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Koolen-De Vries syndrome due to a point mutation

Kuskokwim syndrome

LMNA-related cardiocutaneous progeria syndrome

Lacrimoauriculodentodigital syndrome

Laurence-Moon syndrome

Laurin-Sandrow syndrome

Lenz-Majewski hyperostotic dwarfism

Lesch-Nyhan syndrome

Lethal ataxia with deafness and optic atrophy

Lethal congenital contracture syndrome type 1

Lethal congenital contracture syndrome type 2

Lethal congenital contracture syndrome type 3

Lethal hydranencephaly-diaphragmatic hernia syndrome

Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome

Lethal multiple pterygium syndrome

Lethal occipital encephalocele-skeletal dysplasia syndrome

Lethal polymalformative syndrome, Boissel type

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Leydig cell hypoplasia due to LHB deficiency

Leydig cell hypoplasia due to complete LH resistance

Leydig cell hypoplasia due to partial LH resistance

Lhermitte-Duclos disease

Limb-mammary syndrome

Linear nevus sebaceus syndrome

Lissencephaly due to LIS1 mutation

Lissencephaly due to TUBA1A mutation

Lissencephaly syndrome, Norman-Roberts type

Lissencephaly type 1 due to doublecortin gene mutation

Lobar holoprosencephaly

Lujan-Fryns syndrome

Lymphedema-distichiasis syndrome

Lymphedema-posterior choanal atresia syndrome

MAGEL2-related Prader-Willi-like syndrome

MEDNIK syndrome

MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

MYH9-related disease

Macrocephaly-developmental delay syndrome

Macrocephaly-intellectual disability-autism syndrome

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Macrodactyly of fingers, unilateral

Macrodactyly of toes, unilateral

Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

Malan overgrowth syndrome

Mandibuloacral dysplasia with type A lipodystrophy

Mandibuloacral dysplasia with type B lipodystrophy

Mandibulofacial dysostosis-microcephaly syndrome

Marden-Walker syndrome

Marshall syndrome

Marshall-Smith syndrome

Maternal phenylketonuria

Maternally-inherited diabetes and deafness

Matthew-Wood syndrome

McKusick-Kaufman syndrome

Meacham syndrome

Meckel syndrome

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Megalencephaly-capillary malformation-polymicrogyria syndrome

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

Melnick-Needles syndrome

Mesoaxial synostotic syndactyly with phalangeal reduction

Metopic ridging-ptosis-facial dysmorphism syndrome

Microcephalic cortical malformations-short stature due to RTTN deficiency

Microcephalic osteodysplastic dysplasia, Saul-Wilson type

Microcephalic osteodysplastic primordial dwarfism type II

Microcephalic osteodysplastic primordial dwarfism types I and III

Microcephalic primordial dwarfism due to ZNF335 deficiency

Microcephalic primordial dwarfism, Dauber type

Microcephaly-capillary malformation syndrome

Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Microcephaly-lymphedema-chorioretinopathy syndrome

Microcephaly-micromelia syndrome

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

Microcephaly-short stature-limb abnormalities syndrome

Microcephaly-thin corpus callosum-intellectual disability syndrome

Microduplication Xp11.22p11.23 syndrome

Microform holoprosencephaly

Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

Microlissencephaly

Microphthalmia with brain and digit anomalies

Microphthalmia with limb anomalies

Microphthalmia with linear skin defects syndrome

Microphthalmia, Lenz type

Midline interhemispheric variant of holoprosencephaly

Miller-Dieker syndrome

Mirror-image polydactyly

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Moebius syndrome

Monosomy 22q13.3

Monosomy 9q22.3

Morning glory disc anomaly

Mosaic variegated aneuploidy syndrome

Mowat-Wilson syndrome due to a ZEB2 point mutation

Mowat-Wilson syndrome due to monosomy 2q22

Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

Mucocutaneous venous malformations

Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

Muenke syndrome

Mulibrey nanism

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Multiple intestinal atresia

Multiple synostoses syndrome

Muscle-eye-brain disease

Musculocontractural Ehlers-Danlos syndrome

Müllerian aplasia and hyperandrogenism

Naegeli-Franceschetti-Jadassohn syndrome

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Nail-patella syndrome

Nance-Horan syndrome

Neonatal ichthyosis-sclerosing cholangitis syndrome

Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect

Neu-Laxova syndrome

Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

Neurofibromatosis-Noonan syndrome

Neurogenic arthrogryposis multiplex congenita

Neuropathy with hearing impairment

Nicolaides-Baraitser syndrome

Nijmegen breakage syndrome

Nijmegen breakage syndrome-like disorder

Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency

Non-immune hydrops fetalis

Non-specific syndromic intellectual disability

Non-syndromic bicoronal craniosynostosis

Non-syndromic bilambdoid craniosynostosis

Non-syndromic craniosynostosis

Non-syndromic metopic craniosynostosis

Non-syndromic non-specific multisutural craniosynostosis

Non-syndromic posterior hypospadias

Non-syndromic sagittal craniosynostosis

Non-syndromic unicoronal craniosynostosis

Non-syndromic unilambdoid craniosynostosis

Noonan syndrome

Noonan syndrome with multiple lentigines

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Noonan syndrome-like disorder with loose anagen hair

Occipital encephalocele

Occipital horn syndrome

Occipital pachygyria and polymicrogyria

Oculocerebrofacial syndrome, Kaufman type

Oculocerebrorenal syndrome of Lowe

Oculodentodigital dysplasia

Oculofaciocardiodental syndrome

Oculootodental syndrome

Oculoskeletodental syndrome

Oculotrichoanal syndrome

Odonto-onycho-dermal dysplasia

Okihiro syndrome due to 20q13 microdeletion

Okihiro syndrome due to a point mutation

Open spinal dysraphism

Open spinal dysraphism with myelomeningocele

Oral-facial-digital syndrome with short stature and brachymesophalangy

Orofaciodigital syndrome type 1

Orofaciodigital syndrome type 14

Orofaciodigital syndrome type 2

Orofaciodigital syndrome type 3

Orofaciodigital syndrome type 4

Orofaciodigital syndrome type 5

Orofaciodigital syndrome type 6

Osteosclerosis-developmental delay-craniosynostosis syndrome

Otodental syndrome

Otopalatodigital syndrome type 1

Otopalatodigital syndrome type 2

Overgrowth-macrocephaly-facial dysmorphism syndrome

PCNA-related progressive neurodegenerative photosensitivity syndrome

PDE4D haploinsufficiency syndrome

PLAA-associated neurodevelopmental disorder

PMP22-RAI1 contiguous gene duplication syndrome

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

PYCR2-related microcephaly-progressive leukoencephalopathy

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Pallister-Hall syndrome

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Palmoplantar keratoderma-deafness syndrome

Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome

Pancreatic agenesis-holoprosencephaly syndrome

Paris-Trousseau thrombocytopenia

Parkes Weber syndrome

Partial androgen insensitivity syndrome

Partial atrioventricular septal defect

Partial chromosome Y deletion

Partial pancreatic agenesis

Partington syndrome

Paternal uniparental disomy of chromosome 6

Pelviscapular dysplasia

Pendred syndrome

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

Periventricular nodular heterotopia

Perlman syndrome

Perrault syndrome

Persistent Müllerian duct syndrome

Peters plus syndrome

Pfeiffer syndrome type 1

Pfeiffer syndrome type 2

Pfeiffer syndrome type 3

Phakomatosis cesioflammea

Phakomatosis cesiomarmorata

Phakomatosis pigmentokeratotica

Phocomelia, Schinzel type

Pierpont syndrome

Pitt-Hopkins syndrome

Polydactyly of a biphalangeal thumb and/or hallux

Polydactyly of a triphalangeal thumb

Polymicrogyria due to TUBB2B mutation

Polymicrogyria with optic nerve hypoplasia

Polyvalvular heart disease syndrome

Pontocerebellar hypoplasia type 1

Pontocerebellar hypoplasia type 10

Pontocerebellar hypoplasia type 2

Pontocerebellar hypoplasia type 3

Pontocerebellar hypoplasia type 4

Pontocerebellar hypoplasia type 6

Pontocerebellar hypoplasia type 7

Pontocerebellar hypoplasia type 8

Pontocerebellar hypoplasia type 9

Postaxial acrofacial dysostosis

Postaxial polydactyly type A

Postaxial polydactyly type B

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Posterior urethral valve

Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome

Potocki-Shaffer syndrome

Prader-Willi syndrome due to imprinting mutation

Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2

Prader-Willi syndrome due to translocation

Prenatal-onset spinal muscular atrophy with congenital bone fractures

Primary intraosseous venous malformation

Progressive autosomal recessive ataxia-deafness syndrome

Progressive epilepsy-intellectual disability syndrome, Finnish type

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

Proximal 16p11.2 microdeletion syndrome

Proximal Xq28 duplication syndrome

Proximal symphalangism

Prune belly syndrome

Pure hair and nail ectodermal dysplasia

QRICH1-related intellectual disability-chondrodysplasia syndrome

RAPADILINO syndrome

RERE-related neurodevelopmental syndrome

RFVT2-related riboflavin transporter deficiency

RFVT3-related riboflavin transporter deficiency

RNF13-related severe early-onset epileptic encephalopathy

Radial hemimelia

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

Renal agenesis, bilateral

Renal agenesis, unilateral

Renal coloboma syndrome

Renal hypoplasia, bilateral

Renal tubular dysgenesis of genetic origin

Renal-hepatic-pancreatic dysplasia

Restrictive dermopathy

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Richieri Costa-Pereira syndrome

Right sided atrial isomerism

Roberts syndrome

Roifman syndrome

Rolandic epilepsy-speech dyspraxia syndrome

Rothmund-Thomson syndrome type 1

Rothmund-Thomson syndrome type 2

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Rubinstein-Taybi syndrome due to CREBBP mutations

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

SATB2-associated syndrome due to a chromosomal rearrangement

SATB2-associated syndrome due to a pathogenic variant

SERKAL syndrome

SIM1-related Prader-Willi-like syndrome

SIN3A-related intellectual disability syndrome due to a point mutation

SIX2-related frontonasal dysplasia

SPECC1L-related hypertelorism syndrome

STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome

Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome

Saethre-Chotzen syndrome

Sanjad-Sakati syndrome

Scalp-ear-nipple syndrome

Schilbach-Rott syndrome

Schinzel-Giedion syndrome

Schöpf-Schulz-Passarge syndrome

Seckel syndrome

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

Segmental progressive overgrowth syndrome with fibroadipose hyperplasia

Semilobar holoprosencephaly

Septo-optic dysplasia spectrum

Septopreoptic holoprosencephaly

Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

Severe intellectual disability and progressive spastic paraplegia

Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

Sheldon-Hall syndrome

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

Short stature-brachydactyly-obesity-global developmental delay syndrome

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

Shprintzen-Goldberg syndrome

Silver-Russell syndrome due to 11p15 microduplication

Silver-Russell syndrome due to a point mutation

Silver-Russell syndrome due to an imprinting defect of 11p15

Simpson-Golabi-Behmel syndrome

Situs inversus totalis

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Smith-Lemli-Opitz syndrome

Smith-Magenis syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome

Spinal dysraphism with a posterior meningocele

Split hand-split foot-deafness syndrome

Split-foot malformation-mesoaxial polydactyly syndrome

Stapes ankylosis with broad thumbs and toes

Stickler syndrome type 1

Stickler syndrome type 2

Stromme syndrome

Sturge-Weber syndrome

Subcortical band heterotopia

Submucosal cleft palate

Sudden infant death-dysgenesis of the testes syndrome

Supravalvular aortic stenosis

Symptomatic form of Coffin-Lowry syndrome in female carriers

Syndactyly type 3

Syndactyly type 4

Syndactyly type 5

Syndactyly type 8

Syndactyly-telecanthus-anogenital and renal malformations syndrome

Syndromic microphthalmia type 5

Syndromic multisystem autoimmune disease due to Itch deficiency

Synpolydactyly type 1

Synpolydactyly type 2

TBCK-related intellectual disability syndrome

TELO2-related intellectual disability-neurodevelopmental disorder

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome

Tall stature-intellectual disability-renal anomalies syndrome

Tall stature-long halluces-multiple extra-epiphyses syndrome

Tarsal-carpal coalition syndrome

Tatton-Brown-Rahman syndrome

Temple syndrome due to maternal uniparental disomy of chromosome 14

Temple syndrome due to paternal 14q32.2 hypomethylation

Temple syndrome due to paternal 14q32.2 microdeletion

Temple-Baraitser syndrome

Temtamy preaxial brachydactyly syndrome

Temtamy syndrome

Tessier number 4 facial cleft

Tetraamelia-multiple malformations syndrome

Tetralogy of Fallot

Thiamine-responsive megaloblastic anemia syndrome

Thrombocythemia with distal limb defects

Thrombocytopenia-absent radius syndrome

Tibial aplasia-ectrodactyly syndrome

Tibial hemimelia

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Toriello-Carey syndrome

Toriello-Lacassie-Droste syndrome

Townes-Brocks syndrome

Transketolase deficiency

Treacher-Collins syndrome

Tricho-dento-osseous syndrome

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Trichorhinophalangeal syndrome type 1

Trichorhinophalangeal syndrome type 2

Trichothiodystrophy

Trismus-pseudocamptodactyly syndrome

Truncus arteriosus

Tuberous sclerosis complex

Tubulinopathy-associated dysgyria

Ulnar-mammary syndrome

Unilateral multicystic dysplastic kidney

Usher syndrome type 1

Usher syndrome type 2

Usher syndrome type 3

Uveal coloboma-cleft lip and palate-intellectual disability

VACTERL/VATER association

Van den Ende-Gupta syndrome

Van der Woude syndrome

Vein of Galen aneurysmal malformation

Ventriculomegaly-cystic kidney disease

Waardenburg syndrome type 1

Waardenburg syndrome type 2

Waardenburg syndrome type 3

Waardenburg-Shah syndrome

Walker-Warburg syndrome

Warsaw breakage syndrome

Weaver syndrome

Weill-Marchesani syndrome

Werner syndrome

White-Sutton syndrome

Wiedemann-Rautenstrauch syndrome

Wiedemann-Steiner syndrome

Williams syndrome

Wilson-Turner syndrome

Wolf-Hirschhorn syndrome

Wolfram-like syndrome

X-linked Alport syndrome

X-linked Alport syndrome-diffuse leiomyomatosis

X-linked Charcot-Marie-Tooth disease type 1

X-linked Charcot-Marie-Tooth disease type 4

X-linked Charcot-Marie-Tooth disease type 5

X-linked cleft palate and ankyloglossia

X-linked complicated corpus callosum dysgenesis

X-linked complicated spastic paraplegia type 1

X-linked creatine transporter deficiency

X-linked epilepsy-learning disabilities-behavior disorders syndrome

X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

X-linked hypohidrotic ectodermal dysplasia

X-linked intellectual disability due to GRIA3 mutations

X-linked intellectual disability, Cabezas type

X-linked intellectual disability, Cantagrel type

X-linked intellectual disability, Golabi-Ito-Hall type

X-linked intellectual disability, Hedera type

X-linked intellectual disability, Najm type

X-linked intellectual disability, Nascimento type

X-linked intellectual disability, Porteous type

X-linked intellectual disability, Siderius type

X-linked intellectual disability, Snyder type

X-linked intellectual disability, Stocco Dos Santos type

X-linked intellectual disability, Sutherland-Haan type

X-linked intellectual disability, Van Esch type

X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

X-linked intellectual disability-cerebellar hypoplasia syndrome

X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome

X-linked intellectual disability-psychosis-macroorchidism syndrome

X-linked intellectual disability-short stature-overweight syndrome

X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome

X-linked lissencephaly with abnormal genitalia

X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome

X-linked myotubular myopathy-abnormal genitalia syndrome

Xq21 microdeletion syndrome

Xq25 microduplication syndrome

Xq27.3q28 duplication syndrome

Zimmermann-Laband syndrome

Zygodactyly type 3

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