X-linked recessive inheritance

Symptom Information:

Symptom ID: HPO:0001419
Synonyms:
X-LINKED RECESSIVE [HPO:0001419]
X-linked recessive inheritance [Orphanet:52240]
Quality:
Cross references:
Orphanet:52240 "X-linked recessive inheritance" [Orphanet:52240]
Is a (Direct Parents):
HPO         X-linked inheritance
Orphanet Cytogenetic abnormality
Is a (Whole tree): HPO:
All(HPO:0000001)
    Mode of inheritance(HPO:0000005)
       Gonosomal inheritance(HPO:0010985)
          X-linked inheritance(HPO:0001417)
             X-linked recessive inheritance(HPO:0001419)
MedDRA:
Database Frequency: 189 / 7739
Resource:

All diseases associated with this symptom:

AARSKOG-SCOTT SYNDROME (OMIM:305400)
ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
ALG13-CDG (Orphanet:324422)
ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED (OMIM:300158)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
BARATELA-SCOTT SYNDROME (OMIM:300881)
Beta-thalassemia - X-linked thrombocytopenia (Orphanet:231393)
Blepharophimosis-intellectual deficit syndrome, MKB type (Orphanet:293707)
Blue cone monochromatism (Orphanet:16)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Brachytelephalangic chondrodysplasia punctata (Orphanet:79345)
CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION (OMIM:300619)
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIACUTIS CONGENITA (OMIM:302803)
CK syndrome (Orphanet:251383)
COLORBLINDNESS, PARTIAL, DEUTAN SERIES (OMIM:303800)
COLORBLINDNESS, PARTIAL, PROTAN SERIES (OMIM:303900)
COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Cabezas syndrome (Orphanet:85293)
Catel-Manzke syndrome (Orphanet:1388)
Choroideremia - deafness - obesity (Orphanet:1435)
Complete androgen insensitivity syndrome (Orphanet:99429)
Congenital short bowel syndrome (Orphanet:2301)
Congenital valvular dysplasia (Orphanet:1864)
DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES (OMIM:300719)
DEAFNESS, X-LINKED 6 (OMIM:300914)
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED (OMIM:304950)
Deafness , X-linked 1 (OMIM:304500)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Duchenne muscular dystrophy (Orphanet:98896)
EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Early infantile epileptic encephalopathy (Orphanet:1934)
FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
FRAXE intellectual deficit (Orphanet:100973)
Fabry disease (Orphanet:324)
Frontometaphyseal dysplasia (Orphanet:1826)
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Glycogen storage disease due to liver phosphorylase kinase deficiency (Orphanet:264580)
Glycogen storage disease due to muscle phosphorylase kinase deficiency (Orphanet:715)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (Orphanet:713)
HEMOPHILIA A (OMIM:306700)
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
HYPOSPADIAS 1, X-LINKED (OMIM:300633)
HYPOSPADIAS 2, X-LINKED (OMIM:300758)
HYPOURICEMIA, FAMILIAL RENAL, DUE TO TUBULAR HYPERSECRETION (OMIM:307830)
Hemophilia B (Orphanet:98879)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Hydrocephalus with stenosis of aqueduct of Sylvius (Orphanet:2182)
Hyperekplexia - epilepsy (Orphanet:163985)
Hypohidrotic ectodermal dysplasia with immunodeficiency (Orphanet:98813)
IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA (OMIM:300584)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Intellectual deficit - alacrima - achalasia (Orphanet:289483)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked - cubitus valgus - dysmorphism (Orphanet:85280)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked - psychosis - macroorchidism (Orphanet:3077)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Brooks type (Orphanet:3056)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Intellectual deficit, X-linked, Kroes type (Orphanet:163961)
Intellectual deficit, X-linked, Nascimento type (Orphanet:163956)
Intellectual deficit, X-linked, Shashi type (Orphanet:85286)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Isolated glycerol kinase deficiency (Orphanet:408)
JAUNDICE, FAMILIAL OBSTRUCTIVE, OF INFANCY (OMIM:308600)
Joubert syndrome 10 (OMIM:300804)
Kelley-Seegmiller syndrome (Orphanet:79233)
Kennedy disease (Orphanet:481)
Keratosis follicularis spinulosa decalvans (Orphanet:2340)
LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
LUJAN-FRYNS SYNDROME (OMIM:309520)
LUTHERAN SUPPRESSOR, X-LINKED (OMIM:309050)
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Laryngeal abductor paralysis - intellectual deficit (Orphanet:2375)
Lesch-Nyhan syndrome (Orphanet:510)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Leukoencephalopathy - metaphyseal chondrodysplasia (Orphanet:83629)
MACULAR DEGENERATION, X-LINKED ATROPHIC (OMIM:300834)
MASA syndrome (Orphanet:2466)
MEGALOCORNEA (OMIM:309300)
MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
MENTAL RETARDATION, X-LINKED 45 (OMIM:300498)
MENTAL RETARDATION, X-LINKED 46 (OMIM:300436)
MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE (OMIM:300861)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
MYELOLYMPHATIC INSUFFICIENCY (OMIM:310350)
MYOPIA 1, X-LINKED (OMIM:310460)
Methylmalonic acidemia with homocystinuria, type cblX (Orphanet:369962)
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism (Orphanet:280679)
Mucopolysaccharidosis type 2 (Orphanet:580)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A (OMIM:310500)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E (OMIM:614565)
NYSTAGMUS 1, CONGENITAL, X-LINKED (OMIM:310700)
Nephrogenic syndrome of inappropriate antidiuresis (Orphanet:93606)
Norrie disease (Orphanet:649)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Occipital horn syndrome (Orphanet:198)
Oculocerebrorenal syndrome (Orphanet:534)
Orofaciodigital syndrome type 9 (Orphanet:141007)
PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Paraplegia - intellectual deficit - hyperkeratosis (Orphanet:2824)
Partial androgen insensitivity syndrome (Orphanet:90797)
Partington syndrome (Orphanet:94083)
Phosphoribosylpyrophosphate synthetase superactivity (Orphanet:3222)
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome (Orphanet:276432)
Primary ciliary dyskinesia - retinitis pigmentosa (Orphanet:247522)
Properdin deficiency (Orphanet:2966)
RETINITIS PIGMENTOSA 23 (OMIM:300424)
Renpenning syndrome (Orphanet:3242)
Roifman syndrome (Orphanet:353298)
SCARF syndrome (Orphanet:3134)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet:369939)
Severe neonatal-onset encephalopathy with microcephaly (Orphanet:209370)
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia (Orphanet:632)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Spastic paraplegia type 2 (Orphanet:99015)
Spondyloepimetaphyseal dysplasia, Bieganski type (Orphanet:168448)
Syndactyly type 8 (Orphanet:2498)
Syndromic X-linked ichthyosis (Orphanet:281090)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
T-B+ severe combined immunodeficiency due to gamma chain deficiency (Orphanet:276)
TAURODONTISM, MICRODONTIA, AND DENS INVAGINATUS (OMIM:313490)
THROMBOCYTHEMIA, X-LINKED (OMIM:300331)
THUMBS, CONGENITAL CLASPED (OMIM:314100)
THYROXINE-BINDING GLOBULIN OF SERUM (OMIM:314200)
Thrombocytopenia with congenital dyserythropoietic anemia (Orphanet:67044)
Trigonocephaly - short stature - developmental delay (Orphanet:3369)
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
WISKOTT-ALDRICH SYNDROME (OMIM:301000)
X-linked Charcot-Marie-Tooth disease type 1 (Orphanet:101075)
X-linked Charcot-Marie-Tooth disease type 2 (Orphanet:101076)
X-linked Charcot-Marie-Tooth disease type 3 (Orphanet:101077)
X-linked Charcot-Marie-Tooth disease type 4 (Orphanet:101078)
X-linked Charcot-Marie-Tooth disease type 5 (Orphanet:99014)
X-linked Ehlers-Danlos syndrome (Orphanet:75497)
X-linked Opitz G/BBB syndrome (Orphanet:306597)
X-linked central congenital hypothyroidism with late-onset testicular enlargement (Orphanet:329235)
X-linked centronuclear myopathy (Orphanet:596)
X-linked cerebral adrenoleukodystrophy (Orphanet:139396)
X-linked cone dysfunction syndrome with myopia (Orphanet:90001)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked distal spinal muscular atrophy (Orphanet:139557)
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia (Orphanet:363727)
X-linked dystonia-parkinsonism (Orphanet:53351)
X-linked epilepsy - learning disabilities - behavior disorders (Orphanet:85294)
X-linked hereditary sensory and autonomic neuropathy with deafness (Orphanet:139583)
X-linked hyper-IgM syndrome (Orphanet:101088)
X-linked hypohidrotic ectodermal dysplasia (Orphanet:181)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)
X-linked intellectual disability due to GRIA3 anomalies (Orphanet:364028)
X-linked intellectual disability, Hedera type (Orphanet:93952)
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (Orphanet:324410)
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome (Orphanet:85295)
X-linked intellectual disability-retinitis pigmentosa syndrome (Orphanet:85332)
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency (Orphanet:319623)
X-linked mixed deafness with perilymphatic gusher (Orphanet:383)
X-linked myopathy with excessive autophagy (Orphanet:25980)
X-linked myopathy with postural muscle atrophy (Orphanet:178461)
X-linked non progressive cerebellar ataxia (Orphanet:314978)
X-linked non-syndromic intellectual deficit (Orphanet:777)
X-linked nonsyndromic sensorineural deafness type DFN (Orphanet:90625)
X-linked progressive cerebellar ataxia (Orphanet:1175)
X-linked severe congenital neutropenia (Orphanet:86788)
X-linked sideroblastic anemia (Orphanet:75563)
X-linked sideroblastic anemia - ataxia (Orphanet:2802)
X-linked spastic paraplegia type 34 (Orphanet:171607)
X-linked spinocerebellar ataxia type 3 (Orphanet:85297)
X-linked spondyloepimetaphyseal dysplasia (Orphanet:93349)
X-linked thrombocytopenia with normal platelets (Orphanet:852)
Xq27.3q28 duplication syndrome (Orphanet:261483)
[DEL] MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
[DEL]EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)