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

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Diagnosis of intellectual disability (Panel)

Laboratoire de cytogénétique constitutionnelle
Centre de Biologie et Pathologie Est
CHU de Lyon HCL - GH Est
59 Boulevard Pinel
69677 BRON CEDEX
FRANCE
Director of laboratory : Pr Damien SANLAVILLE
More information

Phone : 33 (0)4 72 12 96 39
Additional Phone : -
Fax : 33 (0)4 72 12 97 10

Last update: June 2022

Responsible of diagnostic test

Pr Gaëtan LESCA

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (333)

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

2q23.1 microdeletion syndrome

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

5p13 microduplication syndrome

5q14.3 microdeletion syndrome

6-pyruvoyl-tetrahydropterin synthase deficiency

9q33.3q34.11 microdeletion syndrome

ALDH18A1-related De Barsy syndrome

Aarskog-Scott syndrome

Adenylosuccinate lyase deficiency

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

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

Aspartylglucosaminuria

Ataxia-oculomotor apraxia type 4

Atypical Rett syndrome

Atypical glycine encephalopathy

Atypical teratoid rhabdoid tumor

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 dopa-responsive dystonia

Autosomal dominant epilepsy with auditory features

Autosomal dominant non-syndromic intellectual disability

Autosomal dominant spastic paraplegia type 9A

Autosomal dominant spastic paraplegia type 9B

Autosomal recessive non-syndromic intellectual disability

Autosomal recessive primary microcephaly

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

Bannayan-Riley-Ruvalcaba syndrome

Baraitser-Winter cerebrofrontofacial syndrome

Benign familial infantile 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

Borjeson-Forssman-Lehmann syndrome

CNTNAP2-related developmental and epileptic encephalopathy

Cerebrotendinous xanthomatosis

Childhood absence epilepsy

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Christianson syndrome

Classic glucose transporter type 1 deficiency syndrome

Classic homocystinuria

Classic phenylketonuria

Coffin-Lowry syndrome

Coffin-Siris syndrome

Congenital fibrosis of extraocular muscles

Congenital myasthenic syndromes with glycosylation defect

Continuous spikes and waves during sleep

Cornelia de Lange syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Costello syndrome

Craniopharyngioma

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

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

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

Developmental malformations-deafness-dystonia syndrome

Dravet syndrome

Dubowitz syndrome

Dysequilibrium syndrome

Dyskeratosis congenita

Early infantile epileptic encephalopathy

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

Encephalopathy due to prosaposin deficiency

FG syndrome type 1

FRAXE intellectual disability

Familial exudative vitreoretinopathy

Familial infantile myoclonic epilepsy

Familial multiple meningioma

Familial or sporadic hemiplegic migraine

Female restricted epilepsy with intellectual disability

Focal dermal hypoplasia

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Fragile X syndrome

Fragile X-associated tremor/ataxia syndrome

Free sialic acid storage disease, infantile form

Frontometaphyseal dysplasia

Full schwannomatosis

GTP cyclohydrolase I deficiency

Gaucher disease type 1

Gaucher disease type 2

Gaucher disease type 3

Generalized epilepsy with febrile seizures-plus

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

Glutaryl-CoA dehydrogenase deficiency

Glycogen storage disease due to LAMP-2 deficiency

Guanidinoacetate methyltransferase deficiency

HSD10 disease, atypical type

HSD10 disease, infantile type

HSD10 disease, neonatal type

Hamel cerebro-palato-cardiac syndrome

Hereditary cryohydrocytosis with reduced stomatin

Hereditary late-onset Parkinson disease

Hereditary sensory and autonomic neuropathy type 2

Hoyeraal-Hreidarsson syndrome

Hurler syndrome

Hurler-Scheie syndrome

Hydrocephalus with stenosis of the aqueduct of Sylvius

Hyperekplexia-epilepsy syndrome

Hyperphosphatasia-intellectual disability syndrome

Hyperprolinemia type 1

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

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

Intellectual disability syndrome due to a DYRK1A point mutation

Intellectual disability-epilepsy-extrapyramidal syndrome

Intellectual disability-expressive aphasia-facial dysmorphism 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-severe speech delay-mild dysmorphism syndrome

Intermediate severe Salla disease

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

Joubert syndrome

Joubert syndrome with ocular defect

Juvenile myoclonic epilepsy

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

L-Arginine:glycine amidinotransferase deficiency

Landau-Kleffner syndrome

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

Macrocephaly-intellectual disability-autism syndrome

Malignant migrating focal seizures of infancy

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

Microduplication Xp11.22p11.23 syndrome

Microphthalmia with linear skin defects syndrome

Microphthalmia, Lenz type

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

NON RARE IN EUROPE: FG syndrome phenotypic spectrum

Nance-Horan syndrome

Neonatal adrenoleukodystrophy

Neonatal glycine encephalopathy

Neu-Laxova syndrome

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-specific early-onset epileptic encephalopathy

Noonan syndrome

Occipital pachygyria and polymicrogyria

Oculocerebrofacial syndrome, Kaufman type

Oculocerebrorenal syndrome of Lowe

Oculofaciocardiodental syndrome

Ornithine transcarbamylase deficiency

Orofaciodigital syndrome type 1

Orofaciodigital syndrome type 6

Otopalatodigital syndrome type 1

Otopalatodigital syndrome type 2

PMP22-RAI1 contiguous gene duplication syndrome

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

Pitt-Hopkins syndrome

Polymicrogyria due to TUBB2B mutation

Progressive epilepsy-intellectual disability syndrome, Finnish type

Progressive myoclonic epilepsy with dystonia

Proteus syndrome

Proximal Xq28 duplication syndrome

Pyruvate dehydrogenase E1-alpha deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

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

Sanfilippo syndrome type A

Sanfilippo syndrome type B

Sanfilippo syndrome type C

Scheie syndrome

Schinzel-Giedion syndrome

Seckel syndrome

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 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

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

Tuberous sclerosis complex

Tubulinopathy-associated dysgyria

Weaver syndrome

White-Sutton syndrome

Wiedemann-Steiner syndrome

Wilson-Turner 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 epilepsy-learning disabilities-behavior disorders syndrome

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, 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, Sutherland-Haan type

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

X-linked intellectual disability-cerebellar hypoplasia syndrome

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior 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 non-syndromic intellectual disability

X-linked spasticity-intellectual disability-epilepsy syndrome

Zellweger syndrome

List of genes tested (including panels) (261)

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