Orphanet: Diagnostic de la dï¿½ficience intellectuelle Exome clinique

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Diagnosis of intellectual disability and/or epilepsy (Panel)

Laboratoire de génétique médicale
Service de cytogénétique et génétique moléculaire
CHU de Nancy - Hôpitaux de Brabois
Rue du Morvan
54511 VANDOEUVRE-LÈS-NANCY CEDEX
FRANCE
Director of laboratory : Dr Céline BONNET
More information

Phone : 33 (0)3 83 15 37 71
Additional Phone : -
Fax : 33 (0)3 83 15 37 72
Contact
email

Last update: November 2020

Responsible of diagnostic test

Dr Céline BONNET

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 (368)

12p12.1 microdeletion syndrome

12q14 microdeletion syndrome

17p11.2 microduplication syndrome

17q11.2 microduplication syndrome

19p13.3 microduplication syndrome

2q23.1 microdeletion syndrome

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

3-phosphoserine phosphatase deficiency, infantile/juvenile form

5p13 microduplication syndrome

9q33.3q34.11 microdeletion syndrome

AICA-ribosiduria

ANK3-related intellectual disability-sleep disturbance syndrome

Aarskog-Scott syndrome

Acquired schizencephaly

Acrocallosal syndrome

Acrofacial dysostosis, Rodríguez type

Adenylosuccinate lyase deficiency

Agnathia-holoprosencephaly-situs inversus syndrome

Aicardi-Goutières syndrome

Alacrimia-choreoathetosis-liver dysfunction syndrome

Allan-Herndon-Dudley syndrome

Alobar holoprosencephaly

Alopecia-intellectual disability syndrome

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

Alpha-thalassemia-X-linked intellectual disability syndrome

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

Angelman syndrome due to a point mutation

Angelman syndrome due to imprinting defect in 15q11-q13

Angelman syndrome due to maternal 15q11q13 deletion

Angelman syndrome due to paternal uniparental disomy of chromosome 15

Aniridia-cerebellar ataxia-intellectual disability syndrome

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome

Atelosteogenesis type II

Atelosteogenesis type III

Atypical Rett syndrome

Autism spectrum disorder due to AUTS2 deficiency

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Autosomal dominant non-syndromic intellectual disability

Autosomal dominant primary microcephaly

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency

Autosomal recessive cutis laxa type 2, classic type

Autosomal recessive non-syndromic intellectual disability

Autosomal recessive primary microcephaly

Autosomal recessive spastic paraplegia type 11

Autosomal recessive spastic paraplegia type 9B

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

BRESEK syndrome

Bannayan-Riley-Ruvalcaba syndrome

Baraitser-Winter cerebrofrontofacial syndrome

Basel-Vanagaite-Smirin-Yosef syndrome

Bilateral frontoparietal polymicrogyria

Bilateral generalized polymicrogyria

Bilateral parasagittal parieto-occipital polymicrogyria

Bilateral perisylvian polymicrogyria

Blepharophimosis-intellectual disability syndrome, MKB type

Blepharophimosis-intellectual disability syndrome, SBBYS type

Bohring-Opitz syndrome

Borjeson-Forssman-Lehmann syndrome

Bowen-Conradi syndrome

CDKL5-related epileptic encephalopathy

CEDNIK syndrome

CLCN4-related X-linked intellectual disability syndrome

Cardiofaciocutaneous syndrome

Carpenter-Waziri syndrome

Cataract-intellectual disability-hypogonadism syndrome

Cerebellar-facial-dental syndrome

Christianson syndrome

Chudley-Lowry-Hoar syndrome

Cobblestone lissencephaly without muscular or ocular involvement

Cockayne syndrome type 1

Cockayne syndrome type 2

Cockayne syndrome type 3

Coffin-Lowry syndrome

Coffin-Siris syndrome

Congenital cataracts-facial dysmorphism-neuropathy syndrome

Congenital insensitivity to pain with severe intellectual disability

Congenital muscular dystrophy with cerebellar involvement

Congenital muscular dystrophy with intellectual disability

Congenital muscular dystrophy with intellectual disability and severe epilepsy

Congenital muscular dystrophy, Fukuyama type

Cornelia de Lange syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Costello syndrome

Craniofrontonasal dysplasia

DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

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

Developmental and speech delay due to SOX5 deficiency

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

Dubowitz syndrome

Dyskeratosis congenita

Ear-patella-short stature syndrome

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 encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

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

FG syndrome type 1

FRAXE intellectual disability

Familial infantile bilateral striatal necrosis

Familial porencephaly

Familial schizencephaly

Female restricted epilepsy with intellectual disability

Floating-Harbor syndrome

Focal dermal hypoplasia

Fragile X syndrome

Frontometaphyseal dysplasia

Gabriele-de Vries syndrome

Galloway-Mowat syndrome

Genitopatellar syndrome

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Glycogen storage disease due to LAMP-2 deficiency

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Goldberg-Shprintzen megacolon syndrome

Guanidinoacetate methyltransferase deficiency

HSD10 disease, atypical type

HSD10 disease, infantile type

HSD10 disease, neonatal type

Hamel cerebro-palato-cardiac syndrome

Hartsfield syndrome

Hennekam syndrome

Hereditary cryohydrocytosis with reduced stomatin

Holmes-Gang syndrome

Hoyeraal-Hreidarsson syndrome

Hydranencephaly

Hydrocephalus with stenosis of the aqueduct of Sylvius

Hyperekplexia-epilepsy syndrome

Hyperphosphatasia-intellectual disability syndrome

Hypertelorism, Teebi type

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Hypomyelination-congenital cataract syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

ISPD-related limb-girdle muscular dystrophy R20

Incontinentia pigmenti

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

Intellectual disability syndrome due to a DYRK1A point mutation

Intellectual disability, Birk-Barel type

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome

Intellectual disability-epilepsy-extrapyramidal syndrome

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Intellectual disability-severe speech delay-mild dysmorphism syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

Isolated anencephaly/exencephaly

Isolated complex I deficiency

Isolated focal cortical dysplasia type IIa

Isolated focal cortical dysplasia type IIb

Johanson-Blizzard syndrome

Juberg-Marsidi syndrome

Kabuki syndrome

Keutel syndrome

Kleefstra syndrome due to 9q34 microdeletion

Kleefstra syndrome due to a point mutation

Laurence-Moon syndrome

Lesch-Nyhan syndrome

Lethal ataxia with deafness and optic atrophy

Leukocyte adhesion deficiency type II

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate 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

MEDNIK syndrome

MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect

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

Mandibulofacial dysostosis-microcephaly syndrome

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

Melnick-Needles syndrome

Microcephalic osteodysplastic dysplasia, Saul-Wilson type

Microcephalic osteodysplastic primordial dwarfism type II

Microcephalic primordial dwarfism due to RTTN deficiency

Microcephalic primordial dwarfism due to ZNF335 deficiency

Microcephalic primordial dwarfism, Dauber type

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

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

Microcephaly-thin corpus callosum-intellectual disability syndrome

Microform holoprosencephaly

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

Microlissencephaly

Microphthalmia with linear skin defects syndrome

Microphthalmia, Lenz type

Midline interhemispheric variant of holoprosencephaly

Mild phosphoribosylpyrophosphate synthetase superactivity

Miller-Dieker syndrome

Mohr-Tranebjaerg syndrome

Monoamine oxidase A deficiency

Mowat-Wilson syndrome due to a ZEB2 point mutation

Mowat-Wilson syndrome due to monosomy 2q22

Mucopolysaccharidosis type 2, attenuated form

Mucopolysaccharidosis type 2, severe form

Multiple congenital anomalies-hypotonia-seizures syndrome

Muscle-eye-brain disease

Muscle-eye-brain disease with bilateral multicystic leucodystrophy

Nance-Horan syndrome

Neu-Laxova syndrome

Occipital pachygyria and polymicrogyria

Oculocerebrorenal syndrome of Lowe

Oculofaciocardiodental syndrome

Opitz G/BBB syndrome

Optic atrophy-intellectual disability syndrome

Ornithine transcarbamylase deficiency

Orofaciodigital syndrome type 1

Orofaciodigital syndrome type 2

Orofaciodigital syndrome type 3

Orofaciodigital syndrome type 4

Orofaciodigital syndrome type 6

Osteoporosis-pseudoglioma syndrome

Otopalatodigital syndrome type 1

Otopalatodigital syndrome type 2

PDE4D haploinsufficiency syndrome

PMP22-RAI1 contiguous gene duplication syndrome

POMT1-related limb-girdle muscular dystrophy R11

POMT2-related limb-girdle muscular dystrophy R14

Partington syndrome

Pelizaeus-Merzbacher disease in female carriers

Pelizaeus-Merzbacher disease, classic form

Pelizaeus-Merzbacher disease, connatal form

Pelizaeus-Merzbacher disease, transitional form

Periventricular nodular heterotopia

Peters plus syndrome

Phosphoserine aminotransferase deficiency, infantile/juvenile form

Pierpont syndrome

Pitt-Hopkins syndrome

Pitt-Hopkins-like syndrome

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

Polymicrogyria due to TUBB2B mutation

Polymicrogyria with optic nerve hypoplasia

Prolidase deficiency

Pyruvate dehydrogenase E1-alpha deficiency

Pyruvate dehydrogenase E1-beta deficiency

Pyruvate dehydrogenase E2 deficiency

Pyruvate dehydrogenase E3 deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

Pyruvate dehydrogenase phosphatase deficiency

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

Rolandic epilepsy-speech dyspraxia syndrome

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Rubinstein-Taybi syndrome due to CREBBP mutations

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

S-adenosylhomocysteine hydrolase deficiency

Sanjad-Sakati syndrome

Seckel syndrome

Seizures-scoliosis-macrocephaly syndrome

Semilobar holoprosencephaly

Septopreoptic holoprosencephaly

Severe intellectual disability and progressive spastic paraplegia

Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

Severe intellectual disability-progressive spastic diplegia syndrome

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

Severe phosphoribosylpyrophosphate synthetase superactivity

Short stature-brachydactyly-obesity-global developmental delay syndrome

Shprintzen-Goldberg syndrome

Simpson-Golabi-Behmel syndrome

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Smith-Fineman-Myers syndrome

Smith-Lemli-Opitz syndrome

Smith-Magenis syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome

Subcortical band heterotopia

Symptomatic form of Coffin-Lowry syndrome in female carriers

Syndromic X-linked intellectual disability due to JARID1C mutation

Syndromic multisystem autoimmune disease due to Itch deficiency

Tall stature-intellectual disability-facial dysmorphism syndrome

Temtamy preaxial brachydactyly syndrome

Temtamy syndrome

Tuberous sclerosis complex

VACTERL with hydrocephalus

Walker-Warburg syndrome

Weaver syndrome

White-Sutton syndrome

Wiedemann-Rautenstrauch syndrome

Wiedemann-Steiner syndrome

Williams syndrome

Wilson-Turner syndrome

Wolf-Hirschhorn syndrome

Woodhouse-Sakati syndrome

Wrinkly skin syndrome

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 centronuclear myopathy

X-linked cerebral adrenoleukodystrophy

X-linked complicated corpus callosum dysgenesis

X-linked complicated spastic paraplegia type 1

X-linked creatine transporter deficiency

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

X-linked epilepsy-learning disabilities-behavior disorders syndrome

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

X-linked intellectual disability due to GRIA3 mutations

X-linked intellectual disability with isolated growth hormone deficiency

X-linked intellectual disability with marfanoid habitus

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, Turner 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-hypotonia-movement disorder syndrome

X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome

X-linked intellectual disability-psychosis-macroorchidism syndrome

X-linked intellectual disability-short stature-overweight syndrome

X-linked lissencephaly with abnormal genitalia

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

X-linked myotubular myopathy-abnormal genitalia syndrome

X-linked non-syndromic intellectual disability

X-linked progressive cerebellar ataxia

X-linked spasticity-intellectual disability-epilepsy syndrome

Xeroderma pigmentosum-Cockayne syndrome complex

List of genes tested (including panels) (1207)

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