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

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Diagnosis of intellectual disability (Panel ID275)

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: May 2022

Responsible of diagnostic test

Dr Frédéric BILAN

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 (268)

15q13.3 microdeletion syndrome

17p13.3 microduplication syndrome

2q37 microdeletion syndrome

5p13 microduplication syndrome

ALDH18A1-related De Barsy syndrome

ANK3-related intellectual disability-sleep disturbance syndrome

Aarskog-Scott syndrome

Adenylosuccinate lyase deficiency

Allan-Herndon-Dudley syndrome

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

Ataxia-oculomotor apraxia type 4

Atypical Rett syndrome

Atypical glycine encephalopathy

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

Autosomal dominant Charcot-Marie-Tooth disease type 2O

Autosomal dominant epilepsy with auditory features

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Autosomal dominant non-syndromic intellectual disability

Autosomal dominant spastic paraplegia type 9A

Autosomal dominant spastic paraplegia type 9B

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

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 spastic paraplegia type 30

BRESEK syndrome

Bannayan-Riley-Ruvalcaba syndrome

Beckwith-Wiedemann syndrome due to NSD1 mutation

Benign familial infantile epilepsy

Benign familial neonatal epilepsy

Benign familial neonatal-infantile seizures

Beta-propeller protein-associated neurodegeneration

Beta-ureidopropionase deficiency

Bilateral perisylvian polymicrogyria

Blepharophimosis-intellectual disability syndrome, MKB type

Blepharophimosis-intellectual disability syndrome, SBBYS type

Borjeson-Forssman-Lehmann syndrome

CNTNAP2-related developmental and epileptic encephalopathy

Cervical spina bifida aperta

Cervical spina bifida cystica

Cervicothoracic spina bifida aperta

Cervicothoracic spina bifida cystica

Childhood absence epilepsy

Christianson syndrome

Classic glucose transporter type 1 deficiency syndrome

Coffin-Lowry syndrome

Coffin-Siris syndrome

Congenital fibrosis of extraocular muscles

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

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

Developmental and speech delay due to SOX5 deficiency

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

Distal monosomy 3p

Dravet syndrome

Dubowitz syndrome

Dysequilibrium syndrome

Dyskeratosis congenita

Early infantile epileptic encephalopathy

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

Early-onset parkinsonism-intellectual disability syndrome

FRAXE intellectual disability

Familial exudative vitreoretinopathy

Familial or sporadic hemiplegic migraine

Female restricted epilepsy with intellectual disability

Ferro-cerebro-cutaneous syndrome

Focal dermal hypoplasia

Fragile X syndrome

Fragile X-associated tremor/ataxia syndrome

Frontometaphyseal dysplasia

Gabriele-de Vries syndrome

Generalized epilepsy with febrile seizures-plus

Generalized epilepsy-paroxysmal dyskinesia syndrome

Genitopatellar syndrome

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 sensory and autonomic neuropathy type 2

Hydrocephalus with stenosis of the aqueduct of Sylvius

Hyperekplexia-epilepsy syndrome

Hyperphosphatasia-intellectual disability syndrome

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Incontinentia pigmenti

Infantile convulsions and choreoathetosis

Infantile epileptic-dyskinetic encephalopathy

Infantile spasms syndrome

Intellectual disability, Birk-Barel type

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome

Intellectual disability-developmental delay-contractures 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-severe speech delay-mild dysmorphism syndrome

Isolated anencephaly/exencephaly

Isolated childhood apraxia of speech

Isolated complex I deficiency

Johanson-Blizzard syndrome

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

Landau-Kleffner syndrome

Lennox-Gastaut syndrome

Lesch-Nyhan syndrome

Lethal ataxia with deafness and optic atrophy

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

Macrocephaly-intellectual disability-autism syndrome

Malignant migrating focal seizures of infancy

Megalencephalic leukoencephalopathy with subcortical cysts

Melnick-Needles syndrome

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

Microduplication Xp11.22p11.23 syndrome

Microphthalmia with linear skin defects syndrome

Microphthalmia, Lenz type

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

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Myoclonic-astatic epilepsy

Nance-Horan syndrome

Neurodegenerative syndrome due to cerebral folate transport deficiency

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

Occipital pachygyria and polymicrogyria

Oculocerebrofacial syndrome, Kaufman type

Oculocerebrorenal syndrome of Lowe

Oculofaciocardiodental syndrome

Opitz GBBB syndrome

Ornithine transcarbamylase deficiency

Orofaciodigital syndrome type 1

Orofaciodigital syndrome type 6

Otopalatodigital syndrome type 1

Otopalatodigital syndrome type 2

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

Proteus syndrome

Proximal Xq28 duplication syndrome

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

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

Smith-Magenis syndrome

Spastic paraplegia type 2

Spinocerebellar ataxia type 42

Subcortical band heterotopia

Succinic semialdehyde dehydrogenase deficiency

Temtamy syndrome

Thoracolumbosacral spina bifida aperta

Thoracolumbosacral spina bifida cystica

Total spina bifida aperta

Total spina bifida cystica

Tuberous sclerosis complex

Upper thoracic spina bifida aperta

Upper thoracic spina bifida cystica

Urocanic aciduria

Weaver 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 with isolated growth hormone deficiency

X-linked intellectual disability, Cabezas type

X-linked intellectual disability, Cantagrel type

X-linked intellectual disability, Hedera type

X-linked intellectual disability, Najm type

X-linked intellectual disability, Nascimento 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-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-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

List of genes tested (including panels) (272)

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