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X-linked non-syndromic intellectual deficit
35 OMIM references -
25 associated genes
310 connected diseases
2 signs/symptoms
Disease Type of connection
X-linked intellectual deficit with marfanoid habitus
West syndrome
Atypical Rett syndrome
ALG13-CDG
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
Blepharophimosis-intellectual deficit syndrome, MKB type
Coffin-Lowry syndrome
Distal Xq28 microduplication syndrome
Early infantile epileptic encephalopathy
FG syndrome type 1
Infantile epileptic-dyskinetic encephalopathy
Intellectual deficit, X-linked - psychosis - macroorchidism
Methylmalonic acidemia with homocystinuria, type cblX
Micrencephaly - corpus callosum agenesis - abnormal genitalia
Partington syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spasticity - intellectual deficit - X-linked epilepsy
Trisomy Xq28
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked lissencephaly with abnormal genitalia
Autosomal dominant nonsyndromic intellectual deficit
Giant cell glioblastoma
Gliosarcoma
Amyotrophic lateral sclerosis
Cystic fibrosis
Familial thoracic aortic aneurysm and aortic dissection
Young adult-onset Parkinsonism
Loeys-Dietz syndrome type 1
Coffin-Siris syndrome
Familial multiple meningioma
Familial isolated dilated cardiomyopathy
Early-onset autosomal dominant Alzheimer disease
Estrogen resistance syndrome
Autosomal recessive nonsyndromic intellectual deficit
Pilocytic astrocytoma
Precursor T-cell acute lymphoblastic leukemia
Renal tubular dysgenesis of genetic origin
Septo-optic dysplasia
Hereditary nonpolyposis colon cancer
Marfan syndrome type 2
Congenital bilateral absence of vas deferens
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Intellectual deficit, X-linked, Siderius type
Male infertility with normal virilization due to meiosis defect
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Charcot-Marie-Tooth disease type 2B2
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Bardet-Biedl syndrome
Boomerang dysplasia
Cowden syndrome
Proteus syndrome
Spondylocarpotarsal synostosis
Essential thrombocythemia
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Romano-Ward syndrome
Distal 22q11.2 microdeletion syndrome
Benign familial epilepsy of childhood with rolandic spikes
Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation
Epileptic encephalopathy with continuous spike-and-wave during sleep
Landau-Kleffner syndrome
Rolandic epilepsy - speech dyspraxia
Atypical teratoid tumor
Familial rhabdoid tumor
Neurofibromatosis type 3
BAP1-related tumor predisposition syndrome
Intellectual deficit - sparse hair - brachydactyly
Richieri Costa-Pereira syndrome
Thrombocytopenia - absent radius
X-linked Opitz G / BBB syndrome
Hypocalcemic vitamin D-resistant rickets
Classical progressive supranuclear palsy
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
1p36 deletion syndrome
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
Campomelic dysplasia
Greenberg dysplasia
Reynolds syndrome
Shprintzen-Goldberg syndrome
Cerebellar ataxia-deafness-narcolepsy syndrome
Sorsby's fundus dystrophy
APC-related attenuated familial adenomatous polyposis
Desmoid tumor
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Turcot syndrome with polyposis
Peripheral resistance to thyroid hormones
Pure hair and nail ectodermal dysplasia
Apolipoprotein A-I deficiency
Burkitt lymphoma
Donnai-Barrow syndrome
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Kallmann syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Primary dystonia, DYT6 type
Primary familial polycythemia
Tangier disease
X-linked lymphoproliferative disease
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 4E
Dejerine-Sottas syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Isolated CoQ-cytochrome C reductase deficiency
Adams-Oliver syndrome
Autosomal recessive spastic paraplegia type 20
Hemolytic anemia due to red cell pyruvate kinase deficiency
Leber congenital amaurosis
Senior-Loken syndrome
Acrocallosal syndrome
Greig cephalopolysyndactyly syndrome
Huntington disease
Juvenile Huntington disease
Microphthalmia, Lenz type
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome
Spinocerebellar ataxia type 12
Catecholaminergic polymorphic ventricular tachycardia
LEOPARD syndrome
Melanoma of soft part
Neutrophil immunodeficiency syndrome
Noonan syndrome
Acute promyelocytic leukemia
Attenuated Chédiak-Higashi syndrome
Chédiak-Higashi syndrome
Multiple keratoacanthoma, Ferguson-Smith type
Peutz-Jeghers syndrome
Adrenocortical carcinoma
Alternating hemiplegia of childhood
Angelman syndrome
Anophthalmia / microphthalmia - esophageal atresia
Argininosuccinic aciduria
Autosomal dominant secondary polycythemia
Autosomal recessive limb-girdle muscular dystrophy type 2H
Autosomal recessive spastic paraplegia type 30
B-cell chronic lymphocytic leukemia
Bannayan-Riley-Ruvalcaba syndrome
Benign paroxysmal torticollis of infancy
Brachydactyly - elbow wrist dysplasia
Cataract - intellectual deficit - hypogonadism
Colobomatous microphthalmia
Cornelia de Lange syndrome
Craniofacial-ulnar-renal syndrome
Dentatorubral pallidoluysian atrophy
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Ehlers-Danlos syndrome, musculocontractural type
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Familial or sporadic hemiplegic migraine
Familial pancreatic carcinoma
Familial paroxysmal ataxia
Familial partial lipodystrophy associated with PPARG mutations
Fanconi anemia
Gray platelet syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary sensory and autonomic neuropathy type 2
Hypotrichosis - lymphedema - telangiectasia
Idiopathic pulmonary fibrosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Intellectual deficit, X-linked, Snyder type
Isolated anophthalmia - microphthalmia
Juvenile polyposis of infancy
Lethal congenital contracture syndrome type 2
Lhermitte-Duclos disease
Li-Fraumeni syndrome
Macrocephaly-autism syndrome
Micro syndrome
Microcephalic primordial dwarfism due to ZNF335 deficiency
Multiple paragangliomas associated with polycythemia
Muscular dystrophy, Selcen type
Papilloma of choroid plexus
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Precursor B-cell acute lymphoblastic leukemia
Proteus-like syndrome
Pseudohypoaldosteronism type 2E
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Severe combined immunodeficiency due to DNA-PKcs deficiency
Spinocerebellar ataxia type 6
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Squamous cell carcinoma of head and neck
T-cell immunodeficiency with epidermodysplasia verruciformis
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
Wolf-Hirschhorn syndrome
Auriculocondylar syndrome
Acquired idiopathic sideroblastic anemia
Acute myeloid leukemia with multilineage dysplasia
DDOST-CDG
Myelofibrosis with myeloid metaplasia
Parkinsonian-pyramidal syndrome
Polycythemia vera
Refractory anemia
Refractory anemia with excess blasts
STT3B-CDG
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Griscelli disease type 2
Multiple endocrine neoplasia type 1
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Zollinger-Ellison syndrome
Acetazolamide-responsive myotonia
Aneurysm - osteoarthritis syndrome
Atrial stand still
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Brachydactyly type A2
Brachydactyly type C
Brugada syndrome
Craniometaphyseal dysplasia
Familial atrial fibrillation
Familial progressive cardiac conduction defect
Familial prostate cancer
Familial sick sinus syndrome
Hyperkalemic periodic paralysis
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypokalemic periodic paralysis
Hypoplastic left heart syndrome
Idiopathic ventricular fibrillation, not Brugada type
Myotonia fluctuans
Myotonia permanens
Oculodentodigital dysplasia
Paramyotonia congenita of Von Eulenburg
Postsynaptic congenital myasthenic syndromes
Syndactyly type 3
X-linked epilepsy - learning disabilities - behavior disorders
Acatalasemia
Adult-onset autosomal dominant leukodystrophy
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal dominant methemoglobinemia
Autosomal recessive Emery-Dreifuss muscular dystrophy
Beta-thalassemia intermedia
Beta-thalassemia major
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dedifferentiated liposarcoma
Delta-beta-thalassemia
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Dominant beta-thalassemia
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Heinz body anemia
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Hemoglobin Lepore - beta-thalassemia
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Neuroblastoma
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Progeria-associated arthropathy
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
Well-differentiated liposarcoma
Xeroderma pigmentosum complementation group C
Synonym(s):
- X-linked non-specific intellectual deficit

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: x-linked recessive
External references:
35 OMIM references -
No MeSH references

Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- X-linked recessive inheritance