SE-ATLAS

16q24.1 microdeletion syndrome 22q11.2 deletion syndrome 46,XX gonadal dysgenesis Absent thumb-short stature-immunodeficiency syndrome Acquired angioedema Acquired angioedema type 1 Acquired angioedema type 2 Activated PI3K-delta syndrome Acute interstitial pneumonia Acute lung injury Agammaglobulinemia Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Aicardi-Goutières syndrome Allan-Herndon-Dudley syndrome Allergic bronchopulmonary aspergillosis Alobar holoprosencephaly Alopecia antibody deficiency Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Anophthalmia/microphthalmia-esophageal atresia syndrome Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis Apnea of prematurity Aromatase deficiency Aromatase excess syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome Ataxia-telangiectasia Athyreosis Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency Autoimmune lymphoproliferative syndrome with recurrent viral infections Autoimmune polyendocrinopathy type 1 Autoimmune polyendocrinopathy type 2 Autoimmune pulmonary alveolar proteinosis Autoinflammatory syndrome with immune deficiency Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Autosomal agammaglobulinemia Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal dominant severe congenital neutropenia Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Autosomal recessive severe congenital neutropenia Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome BENTA disease Bacterial susceptibility due to TLR signaling pathway deficiency Bardet-Biedl syndrome Barth syndrome Beta-ketothiolase deficiency Blau syndrome Bleeding disorder in hemophilia A carriers Bleeding disorder in hemophilia B carriers Blepharophimosis-ptosis-epicanthus inversus syndrome Bloom syndrome Brain-lung-thyroid syndrome C1 inhibitor deficiency CADINS disease CANDLE syndrome CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome CHARGE syndrome CINCA syndrome Cartilage-hair hypoplasia Cataract-intellectual disability-hypogonadism syndrome Central congenital hypothyroidism Central precocious puberty Cerebellar ataxia-hypogonadism syndrome Cernunnos-XLF deficiency Cherubism Chronic granulomatous disease Chronic mucocutaneous candidiasis Chronic pneumonitis of infancy Chronic respiratory distress with surfactant metabolism deficiency Chédiak-Higashi syndrome Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Classic galactosemia Classic organic aciduria Classic phenylketonuria Cohen syndrome Combined T and B cell immunodeficiency Combined immunodeficiency due to CARD11 deficiency Combined immunodeficiency due to CARMIL2 deficiency Combined immunodeficiency due to CD27 deficiency Combined immunodeficiency due to CD3gamma deficiency Combined immunodeficiency due to CD70 deficiency Combined immunodeficiency due to CRAC channel dysfunction Combined immunodeficiency due to DOCK2 deficiency Combined immunodeficiency due to DOCK8 deficiency Combined immunodeficiency due to GINS1 deficiency Combined immunodeficiency due to IL21R deficiency Combined immunodeficiency due to ITK deficiency Combined immunodeficiency due to LRBA deficiency Combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to Moesin deficiency Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to OX40 deficiency Combined immunodeficiency due to RELA haploinsufficiency Combined immunodeficiency due to STIM1 deficiency Combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to TFRC deficiency Combined immunodeficiency due to ZAP70 deficiency Combined immunodeficiency due to partial RAG1 deficiency Combined immunodeficiency with facio-oculo-skeletal anomalies Combined immunodeficiency with granulomatosis Combined immunodeficiency-enteropathy spectrum Combined pituitary hormone deficiencies, genetic forms Combined pulmonary fibrosis-emphysema syndrome Common variable immunodeficiency Complement component 3 deficiency Congenital adrenal hyperplasia Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital alveolar capillary dysplasia Congenital chylothorax Congenital diaphragmatic hernia Congenital hypogonadotropic hypogonadism Congenital hypothyroidism Congenital hypothyroidism due to developmental anomaly Congenital hypothyroidism due to maternal intake of antithyroid drugs Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies Congenital isolated ACTH deficiency Congenital lipoid adrenal hyperplasia due to STAR deficency Congenital neutropenia-myelofibrosis-nephromegaly syndrome Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome Congenital pulmonary lymphangiectasia Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Constitutional mismatch repair deficiency syndrome Constitutional neutropenia Constitutional neutropenia with extra-hematopoietic manifestations Craniopharyngioma Cryptogenic organizing pneumonia Cyclic neutropenia DITRA DNA repair defect other than combined T-cell and B-cell immunodeficiencies Deficiency in anterior pituitary function-variable immunodeficiency syndrome Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Dianzani autoimmune lymphoproliferative disease Diffuse alveolar hemorrhage Disorder of urea cycle metabolism and ammonia detoxification Drug or radiation exposure-related interstitial lung disease Dyskeratosis congenita Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome Epidermodysplasia verruciformis F12-associated cold autoinflammatory syndrome FADD-related immunodeficiency Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Familial Mediterranean fever Familial adrenal hypoplasia with absent pituitary luteinizing hormone Familial cold urticaria Familial hemophagocytic lymphohistiocytosis Familial hyperinflammatory lymphoproliferative immunodeficiency Familial isolated congenital asplenia Familial peripheral male-limited precocious puberty Familial spontaneous pneumothorax Familial thyroid dyshormonogenesis Fetal iodine syndrome Fructose-1,6-bisphosphatase deficiency Functional neutrophil defect Genetic susceptibility to infections due to particular pathogens Genetic transient congenital hypothyroidism Glutaryl-CoA dehydrogenase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Glycogen storage disease due to glycogen debranching enzyme deficiency Griscelli syndrome type 2 Growth delay due to insulin-like growth factor I resistance Growth delay due to insulin-like growth factor type 1 deficiency Growth hormone insensitivity syndrome Heiner syndrome Hemophilia Hemophilia A Hemophilia B Hennekam syndrome Hepatic veno-occlusive disease-immunodeficiency syndrome Hereditary angioedema Hereditary angioedema type 1 Hereditary angioedema type 2 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Hereditary folate malabsorption Hereditary pulmonary alveolar proteinosis Hermansky-Pudlak syndrome due to AP-3 deficiency Hermansky-Pudlak syndrome type 9 Herpes simplex virus encephalitis Homocystinuria due to cystathionine beta-synthase deficiency House allergic alveolitis Hoyeraal-Hreidarsson syndrome Hyper-IgE syndrome Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyper-IgM syndrome with susceptibility to opportunistic infections Hyper-IgM syndrome without susceptibility to opportunistic infections Hyperimmunoglobulinemia D with periodic fever Hypersensitivity pneumonitis Hypohidrotic ectodermal dysplasia with immunodeficiency Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome Hypothyroidism due to TSH receptor mutations Hypothyroidism due to deficient transcription factors involved in pituitary development or function ICF syndrome IL21-related infantile inflammatory bowel disease Idiopathic CD4 lymphocytopenia Idiopathic bronchiectasis Idiopathic central precocious puberty Idiopathic chronic eosinophilic pneumonia Idiopathic congenital hypothyroidism Idiopathic eosinophilic pneumonia Idiopathic interstitial pneumonia Idiopathic pulmonary fibrosis Idiopathic pulmonary hemosiderosis Immune deficiency due to impaired neutrophil phagocytosis and migration Immune dysregulation disease with immunodeficiency Immune dysregulation with inflammatory bowel disease Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immuno-osseous dysplasia Immunodeficiency by defective expression of MHC class I Immunodeficiency by defective expression of MHC class II Immunodeficiency due to CD25 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to a classical component pathway complement deficiency Immunodeficiency due to a complement cascade component deficiency Immunodeficiency due to a complement cascade protein anomaly Immunodeficiency due to a complement regulatory deficiency Immunodeficiency due to a late component of complement deficiency Immunodeficiency due to absence of thymus Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency predominantly affecting antibody production Immunodeficiency syndrome with autoimmunity Immunodeficiency syndrome with hypopigmentation Immunodeficiency with factor H anomaly Immunodeficiency with factor I anomaly Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Immunoglobulin heavy chain deficiency Infant acute respiratory distress syndrome Infantile apnea Infantile inflammatory bowel disease with neurological involvement Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia Inflammatory bowel disease-recurrent sinopulmonary infections syndrome Interstitial lung disease Interstitial lung disease specific to childhood Interstitial lung disease specific to infancy Isolated agammaglobulinemia Isolated congenital hypogonadotropic hypogonadism Isolated follicle stimulating hormone deficiency Isolated growth hormone deficiency type IA Isolated growth hormone deficiency type IB Isolated growth hormone deficiency type II Isolated growth hormone deficiency type III Isolated pulmonary capillaritis Isolated thyroid-stimulating hormone deficiency Isolated thyrotropin-releasing hormone deficiency Johanson-Blizzard syndrome Kallmann syndrome Kostmann syndrome LIG4 syndrome Laron syndrome Laron syndrome with immunodeficiency Laurence-Moon syndrome Leukocyte adhesion deficiency Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type III Lichtenstein syndrome Lobar holoprosencephaly Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Lymphoid interstitial pneumonia Lymphoproliferative syndrome Lysinuric protein intolerance Majeed syndrome Maple syrup urine disease Maternal phenylketonuria McCune-Albright syndrome Meconium aspiration syndrome Medium chain acyl-CoA dehydrogenase deficiency Mendelian susceptibility to mycobacterial diseases Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia with homocystinuria, type cblC Methylmalonic acidemia with homocystinuria, type cblD Methylmalonic acidemia without homocystinuria Mild hemophilia A Mild hemophilia B Mild phenylketonuria Moderate hemophilia A Moderate hemophilia B Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome Monocytopenia with susceptibility to infections Muckle-Wells syndrome Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Multiple intestinal atresia Muscular pseudohypertrophy-hypothyroidism syndrome Myeloperoxidase deficiency NIK deficiency NLRP3-associated autoinflammatory disease Neonatal acute respiratory distress due to SP-B deficiency Neonatal inflammatory skin and bowel disease Neonatal iodine exposure Netherton syndrome Neuroendocrine cell hyperplasia of infancy Neutropenia-monocytopenia-deafness syndrome Neutrophil immunodeficiency syndrome Nijmegen breakage syndrome Nijmegen breakage syndrome-like disorder Non-acquired combined pituitary hormone deficiency Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Non-acquired isolated growth hormone deficiency Non-acquired panhypopituitarism Non-acquired pituitary hormone deficiency Non-histaminic angioedema Non-severe combined immunodeficiency Normosmic congenital hypogonadotropic hypogonadism Obesity due to congenital leptin deficiency Obesity due to leptin receptor gene deficiency Obesity due to prohormone convertase I deficiency Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Omenn syndrome Osteopetrosis-hypogammaglobulinemia syndrome Other immunodeficiency syndromes due to defects in innate immunity PAPA syndrome PGM3-CDG PLCG2-associated antibody deficiency and immune dysregulation Pallister-Hall syndrome Pancytopenia due to IKZF1 mutations Papillon-Lefèvre syndrome Pearson syndrome Pendred syndrome Peripheral hypothyroidism Peripheral resistance to thyroid hormones Permanent congenital hypothyroidism Perrault syndrome Phenylketonuria Pigeon-breeder lung disease Pituitary stalk interruption syndrome Poikiloderma with neutropenia Prader-Willi syndrome Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome due to paternal 15q11q13 deletion 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 Predisposition to invasive fungal disease due to CARD9 deficiency Predisposition to severe viral infection due to IRF7 deficiency Primary CD59 deficiency Primary ciliary dyskinesia Primary ciliary dyskinesia-retinitis pigmentosa syndrome Primary congenital hypothyroidism Primary congenital hypothyroidism without thyroid developmental anomaly Primary hemophagocytic lymphohistiocytosis Primary immunodeficiency Primary immunodeficiency due to a defect in adaptive immunity Primary immunodeficiency due to a defect in innate immunity Primary immunodeficiency syndrome due to LAMTOR2 deficiency Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Primary immunodeficiency with predisposition to severe viral infection Primary interstitial lung disease in childhood and adulthood Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder Primary interstitial lung disease specific to childhood Primary interstitial lung disease specific to childhood due to alveolar structure disorder Primary interstitial lung disease specific to childhood due to alveolar vascular disorder Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Properdin deficiency Propionic acidemia Pulmonary alveolar microlithiasis Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome Pulmonary interstitial glycogenosis Pulmonary nodular lymphoid hyperplasia Purine nucleoside phosphorylase deficiency Quantitative and/or qualitative congenital phagocyte defect RAS-associated autoimmune leukoproliferative disease RIDDLE syndrome Rare allergic respiratory disease Rare endocrine growth disease Rare peripheral precocious puberty Rare precocious puberty Recurrent Neisseria infections due to factor D deficiency Recurrent infection due to specific granule deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Recurrent respiratory papillomatosis Renin-angiotensin-aldosterone system-blocker-induced angioedema Resistance to thyrotropin-releasing hormone syndrome Reticular dysgenesis Roifman syndrome SAMD9L-associated autoinflammatory syndrome STAT3-related early-onset multisystem autoimmune disease STING-associated vasculopathy with onset in infancy Sarcoidosis Schimke immuno-osseous dysplasia Secondary interstitial lung disease in childhood and adulthood Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis Secondary interstitial lung disease specific to adulthood associated with a systemic disease Secondary interstitial lung disease specific to childhood associated with a connective tissue disease Secondary interstitial lung disease specific to childhood associated with a granulomatous disease Secondary interstitial lung disease specific to childhood associated with a metabolic disease Secondary interstitial lung disease specific to childhood associated with a systemic disease Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis Secondary pulmonary hemosiderosis Selective IgM deficiency Semilobar holoprosencephaly Septo-optic dysplasia spectrum Septopreoptic holoprosencephaly Severe acute respiratory syndrome Severe combined immunodeficiency Severe combined immunodeficiency due to CORO1A deficiency Severe combined immunodeficiency due to CTPS1 deficiency Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency due to FOXN1 deficiency Severe combined immunodeficiency due to IKK2 deficiency Severe combined immunodeficiency due to LAT deficiency Severe combined immunodeficiency due to LCK deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Severe congenital neutropenia Severe dermatitis-multiple allergies-metabolic wasting syndrome Severe hemophilia A Severe hemophilia B Short stature due to GHSR deficiency Short stature due to growth hormone qualitative anomaly Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Short stature due to partial GHR deficiency Short stature due to primary acid-labile subunit deficiency Short stature-delayed bone age due to thyroid hormone metabolism deficiency Short stature-pituitary and cerebellar defects-small sella turcica syndrome Short-limb skeletal dysplasia with severe combined immunodeficiency Shwachman-Diamond syndrome Sickle cell anemia Siegler-Brewer-Carey syndrome Singleton-Merten dysplasia Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Spondyloenchondrodysplasia Staphylococcal necrotizing pneumonia Sterile multifocal osteomyelitis with periostitis and pustulosis Sudden infant death-dysgenesis of the testes syndrome Susceptibility to infection due to TYK2 deficiency Susceptibility to localized juvenile periodontitis Susceptibility to respiratory infections associated with CD8alpha chain mutation Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Syndrome with combined immunodeficiency Syndromic agammaglobulinemia Syndromic diarrhea Syndromic multisystem autoimmune disease due to Itch deficiency T+ B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B- severe combined immunodeficiency T-cell immunodeficiency with epidermodysplasia verruciformis T-cell immunodeficiency with thymic aplasia TCR-alpha-beta-positive T-cell deficiency Thyroid ectopia Thyroid hemiagenesis Thyroid hypoplasia Tracheobronchopathia osteochondroplastica Transcobalamin deficiency Transient congenital hypothyroidism Transient congenital hypothyroidism due to maternal factor Transient congenital hypothyroidism due to neonatal factor Transient hypogammaglobulinemia of infancy Tumor necrosis factor receptor 1 associated periodic syndrome Tyrosinemia type 1 Vasculitis due to ADA2 deficiency Very long chain acyl-CoA dehydrogenase deficiency Vici syndrome Vitamin B12-responsive methylmalonic acidemia Vitamin B12-unresponsive methylmalonic acidemia Von Willebrand disease Von Willebrand disease type 1 Von Willebrand disease type 2 Von Willebrand disease type 2A Von Willebrand disease type 2B Von Willebrand disease type 2M Von Willebrand disease type 2N Von Willebrand disease type 3 WHIM syndrome Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome Whipple disease Wiskott-Aldrich syndrome Woodhouse-Sakati syndrome X-linked adrenal hypoplasia congenita X-linked agammaglobulinemia X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked hyper-IgM syndrome X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunoneurologic disorder X-linked intellectual disability with isolated growth hormone deficiency X-linked lymphoproliferative disease X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked lymphoproliferative disease due to XIAP deficiency X-linked mendelian susceptibility to mycobacterial diseases X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked reticulate pigmentary disorder X-linked severe congenital neutropenia Yellow nail syndrome Young syndrome