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Diagnosis of intellectual disability (Whole exome)

  • Laboratoire de Génétique Moléculaire et INSERM U1253
  • Service de génétique
  • CHRU de Tours - Hôpital Bretonneau
  • 2 Boulevard Tonnellé
  • 37044 TOURS CEDEX 9
  • FRANCE
  • Director of laboratory : Dr Paul GUEGUEN
  • More information
  • Phone : 33 (0)2 47 47 69 35
  • Additional Phone : -
  • Fax : 33 (0)2 47 47 86 53
  • Contact
Last update: October 2022

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)

List of diseases and genes (Panel description)

List of diseases tested (519)
12p12.1 microdeletion syndrome
12q14 microdeletion syndrome
15q24 microdeletion syndrome
17p11.2 microduplication syndrome
17q11.2 microduplication syndrome
17q21.31 microdeletion syndrome
17q24.2 microdeletion syndrome
19p13.3 microduplication syndrome
21q22.11q22.12 microdeletion syndrome
2q23.1 microdeletion syndrome
3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 9
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
3-phosphoserine phosphatase deficiency, infantile/juvenile form
3C syndrome
3MC syndrome
5p13 microduplication syndrome
5q14.3 microdeletion syndrome
8q24.3 microdeletion syndrome
9q33.3q34.11 microdeletion syndrome
ADNP syndrome
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
AICA-ribosiduria
ALDH18A1-related De Barsy syndrome
ALG1-CDG
ALG11-CDG
ALG2-CDG
ALG3-CDG
ALG8-CDG
ANE syndrome
ANK3-related intellectual disability-sleep disturbance syndrome
Aarskog-Scott syndrome
Acrocallosal syndrome
Acrofacial dysostosis, Rodríguez type
Adenylosuccinate lyase deficiency
Agnathia-holoprosencephaly-situs inversus syndrome
Aicardi-Goutières syndrome
Alacrimia-choreoathetosis-liver dysfunction syndrome
Alazami 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
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
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
Anterior maxillary protrusion-strabismus-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
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Autosomal dominant non-syndromic intellectual disability
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Autosomal recessive chorioretinopathy-microcephaly syndrome
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Autosomal recessive cutis laxa type 2, classic type
Autosomal recessive non-syndromic intellectual disability
Autosomal recessive proximal renal tubular acidosis
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 55
Autosomal recessive spastic paraplegia type 9B
Aymé-Gripp syndrome
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
BRESEK syndrome
Bainbridge-Ropers 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
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Bohring-Opitz syndrome
Borjeson-Forssman-Lehmann syndrome
Bowen-Conradi syndrome
Brachydactyly-short stature-retinitis pigmentosa syndrome
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
C syndrome
CAMOS syndrome
CDKL5-deficiency disorder
CEDNIK syndrome
CHIME syndrome
CK syndrome
CLCN4-related X-linked intellectual disability syndrome
COFS syndrome
COG1-CDG
COG4-CDG
COG5-CDG
COG8-CDG
CTCF-related neurodevelopmental disorder
Cardiofaciocutaneous syndrome
Cataract-intellectual disability-hypogonadism syndrome
Catel-Manzke syndrome
Cerebellar-facial-dental syndrome
Cerebrofacioarticular syndrome
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Christianson 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
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Cohen syndrome
Combined oxidative phosphorylation defect type 23
Combined oxidative phosphorylation defect type 27
Combined oxidative phosphorylation defect type 7
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Congenital cerebellar ataxia due to RNU12 mutation
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Congenital insensitivity to pain with severe intellectual disability
Congenital intrauterine infection-like syndrome
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
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
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Congenital sialidosis type 2
Cornelia de Lange syndrome
Corpus callosum agenesis-abnormal genitalia syndrome
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Costello syndrome
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Craniofrontonasal dysplasia
Craniosynostosis-microretrognathia-severe intellectual disability syndrome
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
DOORS syndrome
DPAGT1-CDG
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
Dysequilibrium syndrome
Dyskeratosis congenita
Dystonia-parkinsonism-hypermanganesemia syndrome
Ear-patella-short stature syndrome
Early-onset X-linked optic atrophy
Early-onset epilepsy-intellectual disability-brain anomalies 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 diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
FG syndrome type 1
FOXG1 syndrome
FOXG1 syndrome due to 14q12 microdeletion
FOXP1 Syndrome
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
Familial infantile bilateral striatal necrosis
Familial scaphocephaly syndrome, McGillivray type
Fatty acyl-CoA reductase 1 deficiency
Feingold syndrome type 1
Feingold syndrome type 2
Female restricted epilepsy with intellectual disability
Filippi syndrome
Floating-Harbor syndrome
Focal dermal hypoplasia
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Fragile X syndrome
Fried syndrome
Frontometaphyseal dysplasia
Fryns syndrome
GAPO syndrome
GM3 synthase deficiency
GMPPB-related limb-girdle muscular dystrophy R19
GNB5-related intellectual disability-cardiac arrhythmia syndrome
Gabriele-de Vries syndrome
Galloway-Mowat syndrome
Genitopatellar syndrome
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Goldberg-Shprintzen megacolon syndrome
Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay-intellectual disability-hepatopathy syndrome
Guanidinoacetate methyltransferase deficiency
HSD10 disease, atypical type
HSD10 disease, infantile type
HSD10 disease, neonatal type
Hamel cerebro-palato-cardiac syndrome
Hao-Fountain syndrome due to 16p13.2 microdeletion
Hartsfield syndrome
Hennekam syndrome
Hereditary cryohydrocytosis with reduced stomatin
Hoyeraal-Hreidarsson syndrome
Hydrocephalus with stenosis of the aqueduct of Sylvius
Hyperekplexia-epilepsy syndrome
Hyperphosphatasia-intellectual disability syndrome
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 hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Infantile multisystem neurologic-endocrine-pancreatic disease
Infantile spasms syndrome
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-autism-speech apraxia-craniofacial dysmorphism syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
Intellectual disability-developmental delay-contractures syndrome
Intellectual disability-epilepsy-extrapyramidal syndrome
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
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
Intellectual disability-strabismus syndrome
Isolated complex I deficiency
Jawad syndrome
Johanson-Blizzard syndrome
Juvenile sialidosis type 2
KBG syndrome
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
Keppen-Lubinsky syndrome
Keutel syndrome
Koolen-De Vries syndrome due to a point mutation
Laurence-Moon syndrome
Lenz-Majewski hyperostotic dwarfism
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
Lujan-Fryns syndrome
MAN1B1-CDG
MASA syndrome
MEDNIK syndrome
MEHMO syndrome
MEND syndrome
MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
MGAT2-CDG
MORM syndrome
MPDU1-CDG
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
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Mandibulofacial dysostosis-microcephaly syndrome
Marden-Walker syndrome
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Melnick-Needles syndrome
Menkes disease
Micro 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-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone 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
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Microlissencephaly
Microphthalmia with linear skin defects syndrome
Microphthalmia, Lenz type
Midline interhemispheric variant of holoprosencephaly
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
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Multiple congenital anomalies-hypotonia-seizures syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Muscle-eye-brain disease
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Myhre syndrome
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
Nance-Horan syndrome
Neonatal inflammatory skin and bowel disease
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
Nicolaides-Baraitser syndrome
Non-progressive cerebellar ataxia with intellectual disability
Non-specific syndromic intellectual disability
Norrie disease
Null syndrome
Ocular anomalies-axonal neuropathy-developmental delay syndrome
Oculocerebrofacial syndrome, Kaufman type
Oculocerebrorenal syndrome of Lowe
Oculofaciocardiodental syndrome
Oculoskeletodental syndrome
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Optic atrophy-intellectual disability syndrome
Ornithine transcarbamylase deficiency
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
Osteoporosis-pseudoglioma syndrome
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
PCNA-related progressive neurodegenerative photosensitivity syndrome
PDE4D haploinsufficiency syndrome
PGM3-CDG
PLAA-associated neurodevelopmental disorder
PMM2-CDG
PMP22-RAI1 contiguous gene duplication syndrome
POMT1-related limb-girdle muscular dystrophy R11
POMT2-related limb-girdle muscular dystrophy R14
PRUNE1-related neurological syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
PYCR1-related De Barsy syndrome
PYCR2-related microcephaly-progressive leukoencephalopathy
Pancreatic agenesis-holoprosencephaly syndrome
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
Polyendocrine-polyneuropathy syndrome
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Polymicrogyria due to TUBB2B mutation
Polymicrogyria with optic nerve hypoplasia
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Progressive epilepsy-intellectual disability syndrome, Finnish type
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Prolidase deficiency
Proximal Xq28 duplication syndrome
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
QRICH1-related intellectual disability-chondrodysplasia syndrome
RARS-related autosomal recessive hypomyelinating leukodystrophy
RERE-related neurodevelopmental syndrome
RFT1-CDG
RNF13-related severe early-onset epileptic encephalopathy
Ramon syndrome
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Rett syndrome
Roifman 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
SATB2-associated syndrome due to a chromosomal rearrangement
SATB2-associated syndrome due to a pathogenic variant
SIN3A-related intellectual disability syndrome due to a point mutation
SLC35A1-CDG
SLC35A2-CDG
SLC39A8-CDG
SRD5A3-CDG
SSR4-CDG
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
STT3A-CDG
STT3B-CDG
SYNGAP1-related developmental and epileptic encephalopathy
Sanjad-Sakati syndrome
Seckel syndrome
Seizures-scoliosis-macrocephaly syndrome
Semilobar holoprosencephaly
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-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 motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
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-Lemli-Opitz syndrome
Smith-Magenis syndrome
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Spinocerebellar ataxia type 32
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
Stromme syndrome
Symptomatic form of Coffin-Lowry syndrome in female carriers
Syndromic multisystem autoimmune disease due to Itch deficiency
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
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
Transketolase deficiency
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Tuberous sclerosis complex
Uveal coloboma-cleft lip and palate-intellectual disability
VACTERL with hydrocephalus
VPS11-related autosomal recessive hypomyelinating leukodystrophy
WAGR syndrome
WARS2-related combined oxidative phosphorylation defect
Walker-Warburg syndrome
Weaver syndrome
White-Sutton syndrome
Wiedemann-Rautenstrauch 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 Charcot-Marie-Tooth disease type 6
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, 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-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
XYLT1-CDG
Xeroderma pigmentosum-Cockayne syndrome complex
Xq25 microduplication syndrome
Zimmermann-Laband syndrome
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