Atria septal defect

Symptom Information:

Symptom ID: HPO:0001631
Synonyms:
Atria septal defect [HPO:0001631]
Atrial septal defect [HPO:0001631]
ATRIAL SEPTAL DEFECT (ASD) [HPO:0001631]
Atrial septal defect [Orphanet:34460]
Atrial septal defect (disorder) [Orphanet:34460]
Congenital atrial septal defect (disorder) [Orphanet:34460]
Interauricular septal defect (disorder) [Orphanet:34460]
Interauricular communication [Orphanet:34460]
Atrial Septal Defects [Orphanet:34460]
Atrial septal defect [OMIM:Atrial septal defect]
Atrial septal defect (ASD) [OMIM:Atrial septal defect (ASD)]
Atrial septal defect/interauricular communication [Orphanet:34460]
Atrial septal defect [MedDRA:10003664]
ASD [MedDRA:10003664]
Atrial septal defect NOS [MedDRA:10003664]
Congenital atrial septal defect [MedDRA:10003664]
Defect artrial septum [MedDRA:10003664]
Foramen ovale patent [MedDRA:10003664]
Heart septal defect atrial [MedDRA:10003664]
IA septal defect [MedDRA:10003664]
Interatrial foramen secundum defect [MedDRA:10003664]
Ostium primum defect [MedDRA:10003664]
Ostium secundum defect [MedDRA:10003664]
Ostium secundum type atrial septal defect [MedDRA:10003664]
Septal defect interatrial [MedDRA:10003664]
Septum atrial patent [MedDRA:10003664]
Interauricular communication [MedDRA:10003664]
Coronary sinus type atrial septal defect [MedDRA:10003664]
Atria septal defect (ASD) [OMIM:Atria septal defect (ASD)]
Atrial septal defect (1 patient) [OMIM:Atrial septal defect (1 patient)]
Atrial septal defect (1/4 patients) [OMIM:Atrial septal defect (1/4 patients)]
Atrial septal defect (2 patients) [OMIM:Atrial septal defect (2 patients)]
Atrial septal defect (ASD II) [OMIM:Atrial septal defect (ASD II)]
Atrial septal defect (in 1 patient) [OMIM:Atrial septal defect (in 1 patient)]
Atrial septal defect (in some patients) [OMIM:Atrial septal defect (in some patients)]
Atrial septal defect (less common) [OMIM:Atrial septal defect (less common)]
Atrial septal defect (male) [OMIM:Atrial septal defect (male)]
Atrial septal defect (ostium secundum type) [OMIM:Atrial septal defect (ostium secundum type)]
Atrial septal defect (rare) [OMIM:Atrial septal defect (rare)]
Atrial septal defect (uncommon) [OMIM:Atrial septal defect (uncommon)]
Atrial septal defects [OMIM:Atrial septal defects]
Patent foramen ovale (1 patient) [OMIM:Patent foramen ovale (1 patient)]
Patent foramen ovale (in one patient) [OMIM:Patent foramen ovale (in one patient)]
Patent foramen ovale (in some patients) [OMIM:Patent foramen ovale (in some patients)]
Quality:
Cross references:
HPO:0001671 "Abnormality of the cardiac septa" [Orphanet:34460]
Orphanet:34460 "Atrial septal defect/interauricular communication" [Orphanet:34460]
OMIM: "Atrial septal defect" [OMIM:Atrial septal defect]
OMIM: "Atrial septal defect (ASD)" [OMIM:Atrial septal defect (ASD)]
OMIM: "Atria septal defect (ASD)" [OMIM:Atria septal defect (ASD)]
OMIM: "Atrial septal defect (1 patient)" [OMIM:Atrial septal defect (1 patient)]
OMIM: "Atrial septal defect (1/4 patients)" [OMIM:Atrial septal defect (1/4 patients)]
OMIM: "Atrial septal defect (2 patients)" [OMIM:Atrial septal defect (2 patients)]
OMIM: "Atrial septal defect (ASD II)" [OMIM:Atrial septal defect (ASD II)]
OMIM: "Atrial septal defect (in 1 patient)" [OMIM:Atrial septal defect (in 1 patient)]
OMIM: "Atrial septal defect (in some patients)" [OMIM:Atrial septal defect (in some patients)]
OMIM: "Atrial septal defect (less common)" [OMIM:Atrial septal defect (less common)]
OMIM: "Atrial septal defect (male)" [OMIM:Atrial septal defect (male)]
OMIM: "Atrial septal defect (ostium secundum type)" [OMIM:Atrial septal defect (ostium secundum type)]
OMIM: "Atrial septal defect (rare)" [OMIM:Atrial septal defect (rare)]
OMIM: "Atrial septal defect (uncommon)" [OMIM:Atrial septal defect (uncommon)]
OMIM: "Atrial septal defects" [OMIM:Atrial septal defects]
OMIM: "Patent foramen ovale (1 patient)" [OMIM:Patent foramen ovale (1 patient)]
OMIM: "Patent foramen ovale (in one patient)" [OMIM:Patent foramen ovale (in one patient)]
OMIM: "Patent foramen ovale (in some patients)" [OMIM:Patent foramen ovale (in some patients)]
UMLS:C2609256 "Interauricular communication" [Orphanet:34460]
UMLS:C0018817 "Atrial Septal Defects" [Orphanet:34460]
Is a (Direct Parents):
HPO         Abnormality of the atrial septum
HPO         Abnormality of cardiac atrium
Orphanet Congenital septal defect
MedDRA Myocardial disorders NEC
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the cardiovascular system(HPO:0001626)
          Abnormal heart morphology(HPO:0001627)
             obsolete Malformation of the heart and great vessels(HPO:0002564)
                Abnormality of the cardiac septa(HPO:0001671)
                   Abnormality of the atrial septum(HPO:0011994)
                      Atria septal defect(HPO:0001631)
                Abnormality of cardiac atrium(HPO:0005120)
                   Atria septal defect(HPO:0001631)
MedDRA:
Cardiac disorders(MedDRA:10007541)
    Abnormality of the myocardium(HPO:0001637)
       Myocardial disorders NEC(MedDRA:10028590)
          Atria septal defect(HPO:0001631)
Database Frequency: 274 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
15q14 microdeletion syndrome (Orphanet:261190)
16p13.11 microdeletion syndrome (Orphanet:261236)
16p13.11 microduplication syndrome (Orphanet:261243)
16p13.3 microduplication syndrome (Orphanet:96078)
17p11.2 microduplication syndrome (Orphanet:1713)
17q12 microduplication syndrome (Orphanet:261272)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
19p13.12 microdeletion syndrome (Orphanet:254346)
1p36 deletion syndrome (Orphanet:1606)
20p12.3 microdeletion syndrome (Orphanet:261295)
22q11.2 deletion syndrome (Orphanet:567)
2q31.1 microdeletion syndrome (Orphanet:251014)
3C syndrome (Orphanet:7)
8p11.2 deletion syndrome (Orphanet:251066)
8q12 microduplication syndrome (Orphanet:228399)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
AICA-ribosiduria (Orphanet:250977)
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES (OMIM:300887)
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
ATRIAL SEPTAL DEFECT 1 (OMIM:108800)
ATRIAL SEPTAL DEFECT 2 (OMIM:607941)
ATRIAL SEPTAL DEFECT 5 (OMIM:612794)
ATRIAL SEPTAL DEFECT 6 (OMIM:613087)
AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Abruzzo-Erickson syndrome (Orphanet:921)
Acro-cardio-facial syndrome (Orphanet:2008)
Acro-pectoro-renal dysplasia (Orphanet:956)
Acro-renal-ocular syndrome (Orphanet:959)
Adams-Oliver syndrome (Orphanet:974)
Alagille syndrome (Orphanet:52)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Alagille syndrome due to a NOTCH2 point mutation (Orphanet:261629)
Aldosterone-producing adenoma with seizures and neurological abnormalities (Orphanet:369929)
Antley-Bixler syndrome (Orphanet:83)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Atrial septal defect, sinus venosus type (Orphanet:99105)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive omodysplasia (Orphanet:93329)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II (OMIM:113301)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Bardet-Biedl syndrome 2 (OMIM:615981)
Bardet-Biedl syndrome 6 (OMIM:605231)
Blackfan-Diamond anemia (Orphanet:124)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
Bohring-Opitz syndrome (Orphanet:97297)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
Braddock syndrome (Orphanet:52047)
Brain malformation - congenital heart disease - postaxial polydactyly (Orphanet:75389)
CARDIAC MALFORMATION, CLEFT LIP/PALATE, MICROCEPHALY AND DIGITAL ANOMALIES (OMIM:600987)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CARPENTER SYNDROME 1 (OMIM:201000)
CARPENTER SYNDROME 2 (OMIM:614976)
CHARGE syndrome (Orphanet:138)
CHILD syndrome (Orphanet:139)
CODAS syndrome (Orphanet:1458)
COFFIN-SIRIS SYNDROME (OMIM:135900)
Cantrell pentalogy (Orphanet:1335)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cardiomyopathy, dilated, 1R (OMIM:613424)
Cardiomyopathy, dilated, 1Y (OMIM:611878)
Carpenter syndrome (Orphanet:65759)
Cataract-congenital heart disease-neural tube defect syndrome (Orphanet:314993)
Catel-Manzke syndrome (Orphanet:1388)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Choanal atresia - deafness - cardiac defects - dysmorphism (Orphanet:1200)
Cholestasis - pigmentary retinopathy - cleft palate (Orphanet:1415)
Coffin-Siris syndrome (Orphanet:1465)
Combined immunodeficiency due to STK4 deficiency (Orphanet:314689)
Congenital alveolar capillary dysplasia (Orphanet:210122)
Congenital contractural arachnodactyly (Orphanet:115)
Congenital pulmonary valve stenosis (Orphanet:3189)
Congenital rubella syndrome (Orphanet:290)
Corneal anesthesia - deafness - intellectual deficit (Orphanet:1051)
Cornelia de Lange syndrome (Orphanet:199)
Costello syndrome (Orphanet:3071)
Craniofacial dysplasia-osteopenia syndrome (Orphanet:314555)
Cutis laxa (Orphanet:209)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)
Deafness - onychodystrophy (Orphanet:3231)
Diabetic embryopathy (Orphanet:1926)
Dislocation of the hip - dysmorphism (Orphanet:2412)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal 7q11.23 microdeletion syndrome (Orphanet:254351)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 6p (Orphanet:96125)
Dysmorphism - conductive hearing loss - heart defect (Orphanet:289553)
Dyssegmental dysplasia, Silverman-Handmaker type (Orphanet:1865)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
Ebstein malformation (Orphanet:1880)
Ehlers-Danlos syndrome, classic type (Orphanet:287)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Ellis Van Creveld syndrome (Orphanet:289)
Emanuel syndrome (Orphanet:96170)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (Orphanet:1035)
FRONTOOCULAR SYNDROME (OMIM:605321)
Faisalabad histiocytosis (Orphanet:254707)
Fanconi anemia (Orphanet:84)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Fetal alcohol syndrome (Orphanet:1915)
Fetal trimethadione syndrome (Orphanet:1913)
Floating-Harbor syndrome (Orphanet:2044)
Fryns syndrome (Orphanet:2059)
Geleophysic dysplasia (Orphanet:2623)
Genitopatellar syndrome (Orphanet:85201)
H syndrome (Orphanet:168569)
HETEROTAXY, VISCERAL, 5, AUTOSOMAL (OMIM:270100)
HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 (OMIM:614749)
Hamel cerebro-palato-cardiac syndrome (Orphanet:93946)
Heart defects - limb shortening (Orphanet:1354)
Hennekam syndrome (Orphanet:2136)
Hereditary orotic aciduria (Orphanet:30)
Heterotaxia (Orphanet:450)
His bundle tachycardia (Orphanet:3283)
Histiocytoid cardiomyopathy (Orphanet:137675)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Holt-Oram syndrome (Orphanet:392)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hypertelorism, Teebi type (Orphanet:1519)
Hypomandibular faciocranial dysostosis (Orphanet:1790)
Hypoplastic left heart syndrome (Orphanet:2248)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome (Orphanet:363611)
Interauricular communication (Orphanet:1478)
Isobutyryl-CoA dehydrogenase deficiency (Orphanet:79159)
Isotretinoin-like syndrome (Orphanet:2306)
Ivemark syndrome (Orphanet:97548)
Jacobsen syndrome (Orphanet:2308)
Johanson-Blizzard syndrome (Orphanet:2315)
Joubert syndrome 28 (OMIM:617121)
Juvenile polyposis syndrome (Orphanet:2929)
KABUKI SYNDROME 1 (OMIM:147920)
KABUKI SYNDROME 2 (OMIM:300867)
KAGAMI-OGATA SYNDROME (OMIM:608149)
Kabuki syndrome (Orphanet:2322)
Kallmann syndrome - heart disease (Orphanet:2326)
Kapur-Toriello syndrome (Orphanet:2328)
Klippel-Trénaunay syndrome (Orphanet:90308)
Koolen-De Vries syndrome (Orphanet:96169)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Leprechaunism (Orphanet:508)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lethal restrictive dermopathy (Orphanet:1662)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
Lung agenesis - heart defect - thumb anomalies (Orphanet:1120)
Lymphedema - atrial septal defects - facial changes (Orphanet:86915)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION (OMIM:249670)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY (OMIM:601347)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marshall-Smith syndrome (Orphanet:561)
Matthew-Wood syndrome (Orphanet:2470)
McDonough syndrome (Orphanet:2471)
McKusick-Kaufman syndrome (Orphanet:2473)
Meacham syndrome (Orphanet:3097)
Meckel syndrome, type 4 (OMIM:611134)
Megalencephaly (Orphanet:2477)
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus (Orphanet:83473)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Microcephaly - seizures - intellectual deficit - heart disease (Orphanet:2519)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microgastria - limb reduction defect (Orphanet:2538)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Monosomy 18q (Orphanet:1600)
Monosomy 9p (Orphanet:261112)
Mosaic trisomy 9 (Orphanet:99776)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Mulibrey nanism (Orphanet:2576)
Multifocal atrial tachycardia (Orphanet:3282)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
NOONAN SYNDROME 1 (OMIM:163950)
NOONAN SYNDROME 5 (OMIM:611553)
NOONAN SYNDROME 7 (OMIM:613706)
NOONAN SYNDROME 8 (OMIM:615355)
Neonatal hemochromatosis (Orphanet:446)
Neu-Laxova syndrome (Orphanet:2671)
Noonan syndrome (Orphanet:648)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
Oculodentodigital dysplasia (Orphanet:2710)
Oculofaciocardiodental syndrome (Orphanet:2712)
Okihiro syndrome (Orphanet:93293)
Opitz G/BBB syndrome (Orphanet:2745)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
PHAVER syndrome (Orphanet:2876)
POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Pancreatic hypoplasia - diabetes - congenital heart disease (Orphanet:2255)
Peters-plus syndrome (Orphanet:709)
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (Orphanet:254723)
Polysyndactyly - cardiac malformation (Orphanet:2934)
Porencephaly - cerebellar hypoplasia - internal malformations (Orphanet:2941)
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome (Orphanet:276432)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Proximal spinal muscular atrophy (Orphanet:70)
Proximal spinal muscular atrophy type 1 (Orphanet:83330)
Prune belly syndrome (Orphanet:2970)
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL (OMIM:610338)
ROBERTS SYNDROME (OMIM:268300)
Recombinant 8 syndrome (Orphanet:96167)
Renal-genital-middle ear anomalies (Orphanet:1092)
Renal-hepatic-pancreatic dysplasia (Orphanet:294415)
Renpenning syndrome (Orphanet:3242)
Roberts syndrome (Orphanet:3103)
Rosaï-Dorfman disease (Orphanet:158014)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SOTOS SYNDROME 1 (OMIM:117550)
STEVENSON-CAREY SYNDROME (OMIM:611961)
Schinzel-Giedion syndrome (Orphanet:798)
Short rib-polydactyly syndrome, Majewski type (Orphanet:93269)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Sotos syndrome (Orphanet:821)
Spondylo-ocular syndrome (Orphanet:85194)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
TARP syndrome (Orphanet:2886)
TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Tetrasomy 12p (Orphanet:884)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Thrombocytopenia - absent radius (Orphanet:3320)
Torg-Winchester syndrome (Orphanet:3460)
Townes-Brocks syndrome (Orphanet:857)
Transaldolase deficiency (Orphanet:101028)
Transketolase deficiency (ORPHA:488618)
Trisomy 13 (Orphanet:3378)
Trisomy 18 (Orphanet:3380)
Turner syndrome (Orphanet:881)
Ulnar/fibula ray defect - brachydactyly (Orphanet:52056)
VENTRICULAR SEPTAL DEFECT 1 (OMIM:614429)
VENTRICULAR SEPTAL DEFECT 3 (OMIM:614432)
Ventricular septal defect (Orphanet:1480)
Waardenburg syndrome type 3 (Orphanet:896)
White forelock with malformations (Orphanet:2475)
Williams syndrome (Orphanet:904)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wrinkly skin syndrome (Orphanet:2834)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)
X-linked intellectual deficit, Golabi-Ito-Hall type (Orphanet:93947)
XK aprosencephaly (Orphanet:3469)
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)