X-linked recessive inheritance
Symptom Information:
Symptom ID: | HPO:0001419 | ||||
Synonyms: |
|
||||
Quality: | |||||
Cross references: |
|
||||
Is a (Direct Parents): |
|
||||
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) |