Orphanet: Diagnostic de la dï¿½ï¿½ï¿½ficience intellectuelle Panel

x

Share
Share

Search for a diagnostic test

Diagnosis of intellectual disability (Panel)

Laboratoire de diagnostic génétique
CHU de Strasbourg - Hôpital Civil
1 Place de l'Hôpital - BP 426
67091 STRASBOURG CEDEX
FRANCE
Director of laboratory : Pr Caroline SCHLUTH BOLARD
More information

Phone : 33 (0)3 69 55 07 77
Additional Phone : -
Fax : 33 (0)3 69 55 18 94
Contact
email

Last update: June 2022

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Mutation scanning/screening and sequence analysis of selected exons

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (472)

12q14 microdeletion syndrome

15q13.3 microdeletion syndrome

17p11.2 microduplication syndrome

17p13.3 microduplication syndrome

17q11 microdeletion syndrome

17q11.2 microduplication syndrome

19p13.3 microduplication syndrome

1p36 deletion syndrome

22q11.2 deletion syndrome

2q24 microdeletion syndrome

2q32q33 microdeletion syndrome

2q37 microdeletion syndrome

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

5p13 microduplication syndrome

5q14.3 microdeletion syndrome

6-pyruvoyl-tetrahydropterin synthase deficiency

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

ALDH18A1-related De Barsy syndrome

ANK3-related intellectual disability-sleep disturbance syndrome

Aarskog-Scott syndrome

Adenylosuccinate lyase deficiency

Adult-onset distal myopathy due to VCP mutation

Allan-Herndon-Dudley syndrome

Alpha-mannosidosis, adult form

Alpha-mannosidosis, infantile form

Alpha-thalassemia-X-linked intellectual disability syndrome

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

Amyotrophic lateral sclerosis

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

Argininosuccinic aciduria

Aspartylglucosaminuria

Ataxia-oculomotor apraxia type 4

Athabaskan brainstem dysgenesis syndrome

Atypical Rett syndrome

Atypical glycine encephalopathy

Atypical teratoid rhabdoid tumor

Autism spectrum disorder due to AUTS2 deficiency

Autism spectrum disorder-epilepsy-arthrogryposis syndrome

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Autosomal dominant Charcot-Marie-Tooth disease type 2O

Autosomal dominant Charcot-Marie-Tooth disease type 2V

Autosomal dominant Charcot-Marie-Tooth disease type 2Y

Autosomal dominant Emery-Dreifuss muscular dystrophy

Autosomal dominant dopa-responsive dystonia

Autosomal dominant epilepsy with auditory features

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Autosomal dominant nocturnal frontal lobe epilepsy

Autosomal dominant non-syndromic intellectual disability

Autosomal dominant spastic paraplegia type 9A

Autosomal dominant spastic paraplegia type 9B

Autosomal recessive ataxia, Beauce type

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

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive non-syndromic intellectual disability

Autosomal recessive primary microcephaly

Autosomal recessive spastic paraplegia type 18

Autosomal recessive spastic paraplegia type 54

Autosomal recessive spastic paraplegia type 56

Autosomal recessive spastic paraplegia type 9B

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

Autosomal spastic paraplegia type 30

BRESEK syndrome

Bainbridge-Ropers syndrome

Bannayan-Riley-Ruvalcaba syndrome

Baraitser-Winter cerebrofrontofacial syndrome

Behavioral variant of frontotemporal dementia

Benign familial infantile epilepsy

Benign familial mesial temporal lobe epilepsy

Benign familial neonatal epilepsy

Benign familial neonatal-infantile seizures

Beta-mannosidosis

Beta-propeller protein-associated neurodegeneration

Beta-ureidopropionase deficiency

Bilateral generalized polymicrogyria

Biotinidase deficiency

Blepharophimosis-intellectual disability syndrome, MKB type

Blepharophimosis-intellectual disability syndrome, SBBYS type

Borjeson-Forssman-Lehmann syndrome

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

CHARGE syndrome

CLCN4-related X-linked intellectual disability syndrome

CNTNAP2-related developmental and epileptic encephalopathy

CTCF-related neurodevelopmental disorder

Cerebrotendinous xanthomatosis

Cervical spina bifida aperta

Cervical spina bifida cystica

Cervicothoracic spina bifida aperta

Cervicothoracic spina bifida cystica

Childhood absence epilepsy

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Christianson syndrome

Citrullinemia type II

Classic galactosemia

Classic glucose transporter type 1 deficiency syndrome

Classic homocystinuria

Classic maple syrup urine disease

Classic phenylketonuria

Coffin-Lowry syndrome

Coffin-Siris syndrome

Congenital fibrosis of extraocular muscles

Congenital muscular dystrophy with cerebellar involvement

Congenital myasthenic syndromes with glycosylation defect

Continuous spikes and waves during sleep

Cornelia de Lange syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Costello syndrome

Craniopharyngioma

D-2-hydroxyglutaric aciduria

DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy

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

Developmental malformations-deafness-dystonia syndrome

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome

Distal monosomy 3p

Donnai-Barrow syndrome

Dravet syndrome

Dubowitz syndrome

Dysequilibrium syndrome

Dyskeratosis congenita

Early infantile epileptic encephalopathy

Early myoclonic encephalopathy

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

Early-onset parkinsonism-intellectual disability syndrome

Encephalopathy due to prosaposin deficiency

Epileptic encephalopathy with global cerebral demyelination

Episodic ataxia type 1

FRAXE intellectual disability

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

Familial exudative vitreoretinopathy

Familial focal epilepsy with variable foci

Familial infantile myoclonic epilepsy

Familial mesial temporal lobe epilepsy with febrile seizures

Familial multiple meningioma

Familial or sporadic hemiplegic migraine

Female restricted epilepsy with intellectual disability

Floating-Harbor syndrome

Focal dermal hypoplasia

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Formiminoglutamic aciduria

Fragile X syndrome

Fragile X-associated tremor/ataxia syndrome

Free sialic acid storage disease, infantile form

Frontometaphyseal dysplasia

Frontotemporal dementia with motor neuron disease

Full schwannomatosis

GM3 synthase deficiency

GTP cyclohydrolase I deficiency

Gaucher disease type 1

Gaucher disease type 2

Gaucher disease type 3

Generalized epilepsy with febrile seizures-plus

Generalized epilepsy-paroxysmal dyskinesia syndrome

Genitopatellar syndrome

Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome

Glutaryl-CoA dehydrogenase deficiency

Glycogen storage disease due to LAMP-2 deficiency

Growth delay due to insulin-like growth factor I resistance

Growth delay due to insulin-like growth factor type 1 deficiency

Guanidinoacetate methyltransferase deficiency

HSD10 disease, atypical type

HSD10 disease, infantile type

HSD10 disease, neonatal type

Hamel cerebro-palato-cardiac syndrome

Hereditary continuous muscle fiber activity

Hereditary cryohydrocytosis with reduced stomatin

Hereditary folate malabsorption

Hereditary hemorrhagic telangiectasia

Hereditary late-onset Parkinson disease

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

Hereditary sensory and autonomic neuropathy type 2

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Hot water reflex epilepsy

Hoyeraal-Hreidarsson syndrome

Hurler syndrome

Hurler-Scheie syndrome

Hydranencephaly

Hydrocephalus with stenosis of the aqueduct of Sylvius

Hyperekplexia-epilepsy syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Hyperphosphatasia-intellectual disability syndrome

Hyperprolinemia type 1

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Incontinentia pigmenti

Infantile Krabbe disease

Infantile Refsum disease

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Infantile convulsions and choreoathetosis

Infantile epileptic-dyskinetic encephalopathy

Infantile glycine encephalopathy

Infantile spasms syndrome

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

Intellectual disability syndrome due to a DYRK1A point mutation

Intellectual disability, Birk-Barel type

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

Intellectual disability-severe speech delay-mild dysmorphism syndrome

Intermediate maple syrup urine disease

Intermediate severe Salla disease

Intermittent maple syrup urine disease

Isolated anencephaly/exencephaly

Isolated childhood apraxia of speech

Isolated complex I deficiency

Isolated focal cortical dysplasia type IIa

Isolated focal cortical dysplasia type IIb

Isolated focal cortical dysplasia type Ia

Johanson-Blizzard syndrome

Joubert syndrome

Joubert syndrome with ocular defect

Juvenile myoclonic epilepsy

Juvenile primary lateral sclerosis

KCNQ2-related epileptic encephalopathy

KDM5C-related syndromic X-linked intellectual disability

Kabuki syndrome

Kleefstra syndrome due to 9q34 microdeletion

Kleefstra syndrome due to a point mutation

Koolen-De Vries syndrome due to a point mutation

L-Arginine:glycine amidinotransferase deficiency

Landau-Kleffner syndrome

Late-onset citrullinemia type I

Lennox-Gastaut syndrome

Lesch-Nyhan syndrome

Lethal ataxia with deafness and optic atrophy

Leukocyte adhesion deficiency type II

Leukoencephalopathy with mild cerebellar ataxia and white matter edema

Lhermitte-Duclos disease

Lissencephaly due to LIS1 mutation

Lissencephaly due to TUBA1A mutation

Lissencephaly syndrome, Norman-Roberts type

Lissencephaly type 1 due to doublecortin gene mutation

Lujan-Fryns syndrome

Lumbosacral spina bifida aperta

Lumbosacral spina bifida cystica

MAGEL2-related Prader-Willi-like syndrome

Macrocephaly-intellectual disability-autism syndrome

Malignant migrating focal seizures of infancy

Marshall-Smith syndrome

Megalencephalic leukoencephalopathy with subcortical cysts

Melnick-Needles syndrome

Metachromatic leukodystrophy, adult form

Metachromatic leukodystrophy, juvenile form

Metachromatic leukodystrophy, late infantile form

Methylcobalamin deficiency type cblG

Methylmalonic acidemia with homocystinuria, type cblC

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

Microduplication Xp11.22p11.23 syndrome

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

Microlissencephaly

Microphthalmia with linear skin defects syndrome

Microphthalmia, Lenz type

Mild Canavan disease

Mild hyperphenylalaninemia

Mild phenylketonuria

Mild phosphoribosylpyrophosphate synthetase superactivity

Miller-Dieker syndrome

Mohr-Tranebjaerg syndrome

Monoamine oxidase A deficiency

Monosomy 22q13.3

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

Mucopolysaccharidosis type 7

Muscle-eye-brain disease

Myoclonic-astatic epilepsy

NDE1-related microhydranencephaly

NON RARE IN EUROPE: Asperger syndrome

NON RARE IN EUROPE: Autism

NON RARE IN EUROPE: FG syndrome phenotypic spectrum

Nance-Horan syndrome

Neonatal adrenoleukodystrophy

Neonatal glycine encephalopathy

Neu-Laxova syndrome

Neurodegenerative syndrome due to cerebral folate transport deficiency

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

Neurological conditions associated with aminoacylase 1 deficiency

Nicolaides-Baraitser syndrome

Niemann-Pick disease type C, adult neurologic onset

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, late infantile neurologic onset

Niemann-Pick disease type C, severe early infantile neurologic onset

Niemann-Pick disease type C, severe perinatal form

Non-progressive cerebellar ataxia with intellectual disability

Non-specific early-onset epileptic encephalopathy

Non-specific syndromic intellectual disability

Noonan syndrome

Occipital pachygyria and polymicrogyria

Oculocerebrofacial syndrome, Kaufman type

Oculocerebrorenal syndrome of Lowe

Oculofaciocardiodental syndrome

Optic atrophy-intellectual disability syndrome

Ornithine transcarbamylase deficiency

Orofaciodigital syndrome type 1

Orofaciodigital syndrome type 6

Otopalatodigital syndrome type 1

Otopalatodigital syndrome type 2

Overgrowth-macrocephaly-facial dysmorphism syndrome

PMP22-RAI1 contiguous gene duplication syndrome

POMGNT1-related limb-girdle muscular dystrophy R15

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

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

Paroxysmal exertion-induced dyskinesia

Paroxysmal kinesigenic dyskinesia

Paroxysmal non-kinesigenic dyskinesia

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

Pierpont syndrome

Pilomyxoid astrocytoma

Pitt-Hopkins syndrome

Polymicrogyria due to TUBB2B mutation

Primary hyperaldosteronism-seizures-neurological abnormalities syndrome

Progressive epilepsy-intellectual disability syndrome, Finnish type

Progressive myoclonic epilepsy with dystonia

Progressive non-fluent aphasia

Propionic acidemia

Proteus syndrome

Proximal Xq28 duplication syndrome

Pyridoxine-dependent epilepsy

Pyruvate dehydrogenase E1-alpha deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

Rhizomelic chondrodysplasia punctata type 1

Rolandic epilepsy

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

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

Sanfilippo syndrome type A

Sanfilippo syndrome type B

Sanfilippo syndrome type C

Scheie syndrome

Schinzel-Giedion syndrome

Seckel syndrome

Semantic dementia

Septo-optic dysplasia spectrum

Severe Canavan disease

Severe intellectual disability and progressive spastic paraplegia

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

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

Severe intellectual disability-progressive spastic diplegia syndrome

Severe neonatal-onset encephalopathy with microcephaly

Severe phosphoribosylpyrophosphate synthetase superactivity

Shprintzen-Goldberg syndrome

Simpson-Golabi-Behmel syndrome

Sjögren-Larsson syndrome

Smith-Lemli-Opitz syndrome

Smith-Magenis syndrome

Spastic paraplegia type 2

Spastic paraplegia-Paget disease of bone syndrome

Spinal muscular atrophy with respiratory distress type 2

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Subcortical band heterotopia

Succinic semialdehyde dehydrogenase deficiency

Tay-Sachs disease, B variant, adult form

Tay-Sachs disease, B variant, infantile form

Tay-Sachs disease, B variant, juvenile form

Tay-Sachs disease, B1 variant

Temtamy syndrome

Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria

Thiamine-responsive maple syrup urine disease

Thoracolumbosacral spina bifida aperta

Thoracolumbosacral spina bifida cystica

Timothy syndrome

Toriello-Carey syndrome

Total spina bifida aperta

Total spina bifida cystica

Tuberous sclerosis complex

Tubulinopathy-associated dysgyria

Upper thoracic spina bifida aperta

Upper thoracic spina bifida cystica

Urocanic aciduria

Vitamin B12-unresponsive methylmalonic acidemia type mut-

Vitamin B12-unresponsive methylmalonic acidemia type mut0

Walker-Warburg syndrome

Weaver syndrome

White-Sutton syndrome

Wiedemann-Steiner syndrome

Williams syndrome

Wilson-Turner syndrome

Wolf-Hirschhorn syndrome

X-linked Charcot-Marie-Tooth disease type 5

X-linked complicated corpus callosum dysgenesis

X-linked complicated spastic paraplegia type 1

X-linked creatine transporter deficiency

X-linked distal spinal muscular atrophy type 3

X-linked dystonia-parkinsonism

X-linked epilepsy-learning disabilities-behavior disorders syndrome

X-linked intellectual disability due to GRIA3 mutations

X-linked intellectual disability with isolated growth hormone deficiency

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-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-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 lissencephaly with abnormal genitalia

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

X-linked non-syndromic intellectual disability

X-linked parkinsonism-spasticity syndrome

X-linked spasticity-intellectual disability-epilepsy syndrome

Zellweger syndrome

List of genes tested (including panels) (473)

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.