Abnormality of the mandible

Symptom Information:

Symptom ID: HPO:0000277
Synonyms:
Quality:
Cross references:
Is a (Direct Parents):
HPO         Abnormality of mandibular ramus
HPO         Abnormality of mandible coronoid process
HPO         Narrow jaw
HPO         Broad jaw
HPO         Abnormality of mandible condylar process
HPO         Abnormality of facial skeleton
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal axial skeleton morphology(HPO:0009121)
                Abnormality of the skull(HPO:0000929)
                   Abnormality of facial skeleton(HPO:0011821)
                      Abnormality of the mandible(HPO:0000277)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the skull(HPO:0000929)
                Abnormality of facial skeleton(HPO:0011821)
                   Abnormality of the mandible(HPO:0000277)
MedDRA:
Database Frequency: 394 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
10q22.3q23.3 microduplication syndrome (Orphanet:276422)
12q14 microdeletion syndrome (Orphanet:94063)
14q11.2 microdeletion syndrome (Orphanet:261120)
14q22q23 microdeletion syndrome (Orphanet:264200)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
16q24.3 microdeletion syndrome (Orphanet:261250)
17p11.2 microduplication syndrome (Orphanet:1713)
17q21.31 microduplication syndrome (Orphanet:217340)
19q13.11 microdeletion syndrome (Orphanet:217346)
1p36 deletion syndrome (Orphanet:1606)
1q44 microdeletion syndrome (Orphanet:238769)
22q11.2 deletion syndrome (Orphanet:567)
22q11.2 microduplication syndrome (Orphanet:1727)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q31.1 microdeletion syndrome (Orphanet:251014)
2q32q33 microdeletion syndrome (Orphanet:251019)
3-hydroxyisobutyric aciduria (Orphanet:939)
3C syndrome (Orphanet:7)
48,XXXY syndrome (Orphanet:96263)
48,XXYY syndrome (Orphanet:10)
49,XXXXY syndrome (Orphanet:96264)
6q16 deletion syndrome (Orphanet:171829)
6q25 microdeletion syndrome (Orphanet:251056)
8p11.2 deletion syndrome (Orphanet:251066)
8q21.11 microdeletion syndrome (Orphanet:284160)
Achalasia - microcephaly (Orphanet:929)
Achondrogenesis (Orphanet:932)
Achondrogenesis type 1A (Orphanet:93299)
Achondrogenesis type 1B (Orphanet:93298)
Achondrogenesis type 2 (Orphanet:93296)
Acro-oto-ocular syndrome (Orphanet:2980)
Acro-renal-mandibular syndrome (Orphanet:958)
Acrocraniofacial dysostosis (Orphanet:949)
Acrofacial dysostosis, Catania type (Orphanet:1786)
Acrofacial dysostosis, Palagonia type (Orphanet:1787)
Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Acrogeria (Orphanet:2500)
Acromegaloid facial appearance syndrome (Orphanet:965)
Acromegaly (Orphanet:963)
Acroosteolysis, dominant type (Orphanet:955)
Acrorenal syndrome (Orphanet:971)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Alagille syndrome (Orphanet:52)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Amish lethal microcephaly (Orphanet:99742)
Aniridia - renal agenesis - psychomotor retardation (Orphanet:1064)
Ankyloblepharon - ectodermal defects - cleft lip/palate (Orphanet:1071)
Arachnodactyly - abnormal ossification - intellectual deficit (Orphanet:1129)
Arthrogryposis multiplex congenita - whistling face (Orphanet:1150)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant omodysplasia (Orphanet:93328)
Autosomal dominant osteosclerosis, Worth type (Orphanet:2790)
Autosomal dominant popliteal pterygium syndrome (Orphanet:1300)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive amelia (Orphanet:1027)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive omodysplasia (Orphanet:93329)
Autosomal recessive polycystic kidney disease (Orphanet:731)
Axial mesodermal dysplasia spectrum (Orphanet:1834)
BOR syndrome (Orphanet:107)
Baller-Gerold syndrome (Orphanet:1225)
Bamforth syndrome (Orphanet:1226)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Baraitser-Winter syndrome (Orphanet:2995)
Bartsocas-Papas syndrome (Orphanet:1234)
Beemer-Ertbruggen syndrome (Orphanet:1237)
Bilateral renal agenesis (Orphanet:1848)
Bird headed-dwarfism, Montreal type (Orphanet:2617)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
Bohring-Opitz syndrome (Orphanet:97297)
Bonnemann-Meinecke-Reich syndrome (Orphanet:1261)
Bowen-Conradi syndrome (Orphanet:1270)
Brachydactyly - mesomelia - intellectual deficit - heart defects (Orphanet:1277)
Brachydactyly - preaxial hallux varus (Orphanet:1278)
Braddock syndrome (Orphanet:52047)
Branchio-otic syndrome (Orphanet:52429)
C syndrome (Orphanet:1308)
COFS syndrome (Orphanet:1466)
Campomelic dysplasia (Orphanet:140)
Camptodactyly - joint contractures - facial skeletal defects (Orphanet:1323)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Cartilage-hair hypoplasia (Orphanet:175)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Catel-Manzke syndrome (Orphanet:1388)
Caudal appendage - deafness (Orphanet:1123)
Cenani-Lenz syndrome (Orphanet:3258)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Cernunnos-XLF deficiency (Orphanet:169079)
Charlie M syndrome (Orphanet:1406)
Cherubism (Orphanet:184)
Chondrodysplasia, Blomstrand type (Orphanet:50945)
Cleft lip/palate - intestinal malrotation - cardiopathy (Orphanet:2001)
Cleft palate - large ears - small head (Orphanet:2013)
Cleft palate - short stature - vertebral anomalies (Orphanet:2015)
Cleft palate-lateral synechia syndrome (Orphanet:2016)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Cohen syndrome (Orphanet:193)
Cole-Carpenter syndrome (Orphanet:2050)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital unilateral hypoplasia of depressor anguli oris (Orphanet:1166)
Corneal-cerebellar syndrome (Orphanet:3177)
Cornelia de Lange syndrome (Orphanet:199)
Cortical blindness - intellectual deficit - polydactyly (Orphanet:1389)
Crane-Heise syndrome (Orphanet:1512)
Craniodiaphyseal dysplasia (Orphanet:1513)
Craniofacial dyssynostosis (Orphanet:1516)
Craniomicromelic syndrome (Orphanet:1524)
Craniosynostosis - Dandy-Walker malformation - hydrocephalus (Orphanet:1538)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
Craniosynostosis, Herrmann-Opitz type (Orphanet:2145)
Cutis laxa (Orphanet:209)
Cutis marmorata telangiectatica congenita (Orphanet:1556)
Cystic fibrosis - gastritis - megaloblastic anemia (Orphanet:2575)
DPAGT1-CDG (Orphanet:86309)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Deafness with labyrinthine aplasia, microtia, and microdontia (Orphanet:90024)
Desmosterolosis (Orphanet:35107)
Diabetic embryopathy (Orphanet:1926)
Diastrophic dwarfism (Orphanet:628)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Distal monosomy 10p (Orphanet:1580)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 6p (Orphanet:96125)
Distal monosomy 7q36 (Orphanet:1636)
Distal trisomy 15q (Orphanet:1707)
Distal trisomy 18q (Orphanet:1716)
Distal trisomy 6p (Orphanet:1745)
Duane retraction syndrome (Orphanet:233)
Dubowitz syndrome (Orphanet:235)
Dysmorphism - cleft palate - loose skin (Orphanet:1779)
Dysmorphism - short stature - deafness - disorder of sex development (Orphanet:2282)
Dyssegmental dysplasia, Silverman-Handmaker type (Orphanet:1865)
Ear-patella-short stature syndrome (Orphanet:2554)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Ectrodactyly - spina bifida - cardiopathy (Orphanet:1894)
Edinburgh malformation syndrome (Orphanet:1895)
Ehlers-Danlos syndrome, arthrochalasic type (Orphanet:1899)
Ehlers-Danlos syndrome, dermatosparaxis type (Orphanet:1901)
Ehlers-Danlos syndrome, periodontitis type (Orphanet:75392)
Endomyocardial fibroelastosis (Orphanet:2022)
Extrasystoles - short stature - hyperpigmentation - microcephaly (Orphanet:1964)
Fallot complex - intellectual deficit - growth delay (Orphanet:3304)
Familial visceral myopathy (Orphanet:2604)
Fanconi anemia (Orphanet:84)
Feingold syndrome (Orphanet:1305)
Femoral-facial syndrome (Orphanet:1988)
Fetal akinesia deformation sequence (Orphanet:994)
Fetal alcohol syndrome (Orphanet:1915)
Fetal minoxidil syndrome (Orphanet:1918)
Fetal trimethadione syndrome (Orphanet:1913)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Flat face - microstomia - ear anomaly (Orphanet:1968)
Frontometaphyseal dysplasia (Orphanet:1826)
Fryns syndrome (Orphanet:2059)
Fryns-Smeets-Thiry syndrome (Orphanet:2058)
GAPO syndrome (Orphanet:2067)
Galloway-Mowat syndrome (Orphanet:2065)
Genito-palato-cardiac syndrome (Orphanet:2075)
Genitopatellar syndrome (Orphanet:85201)
German syndrome (Orphanet:2077)
Gnathodiaphyseal dysplasia (Orphanet:53697)
Goldblatt syndrome (Orphanet:166272)
Goldenhar syndrome (Orphanet:374)
Gorlin syndrome (Orphanet:377)
Grant syndrome (Orphanet:2097)
Greenberg dysplasia (Orphanet:1426)
Grix-Blankenship-Peterson syndrome (Orphanet:2099)
Growth delay - hydrocephaly - lung hypoplasia (Orphanet:3035)
Hallermann-Streiff syndrome (Orphanet:2108)
Hamel cerebro-palato-cardiac syndrome (Orphanet:93946)
Hennekam syndrome (Orphanet:2136)
Hennekam-Beemer syndrome (Orphanet:2135)
Hidrotic ectodermal dysplasia, Halal type (Orphanet:1809)
Hirschsprung disease - nail hypoplasia - dysmorphism (Orphanet:2153)
Hirsutism - skeletal dysplasia - intellectual deficit (Orphanet:2156)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Hutchinson-Gilford progeria syndrome (Orphanet:740)
Hydrolethalus (Orphanet:2189)
Hyperostosis corticalis generalisata (Orphanet:3416)
Hypertrichosis cubiti - short stature (Orphanet:2220)
Hypoglossia - hypodactyly (Orphanet:989)
Hypotonia - cystinuria syndrome (Orphanet:163690)
ICF syndrome (Orphanet:2268)
Infantile spasms - broad thumbs (Orphanet:3173)
Intellectual deficit - hypoplastic corpus callosum - preauricular tag (Orphanet:1495)
Intellectual deficit - polydactyly - uncombable hair (Orphanet:3082)
Intellectual deficit, Wolff type (Orphanet:3080)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Isolated Pierre Robin syndrome (Orphanet:718)
Isotretinoin syndrome (Orphanet:2305)
Isotretinoin-like syndrome (Orphanet:2306)
Jacobsen syndrome (Orphanet:2308)
Juvenile rheumatoid factor-positive polyarthritis (Orphanet:85435)
Kenny-Caffey syndrome (Orphanet:2333)
Kniest dysplasia (Orphanet:485)
Kousseff syndrome (Orphanet:2351)
Kozlowski-Brown-Hardwick syndrome (Orphanet:2352)
Kyphomelic dysplasia (Orphanet:1801)
LIG4 syndrome (Orphanet:99812)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Laron syndrome (Orphanet:633)
Lateral meningocele syndrome (Orphanet:2789)
Lathosterolosis (Orphanet:46059)
Lethal congenital contracture syndrome type 1 (Orphanet:1486)
Lethal faciocardiomelic dysplasia (Orphanet:1972)
Lethal hemolytic anemia - genital anomalies (Orphanet:1046)
Lethal multiple pterygium syndrome (Orphanet:33108)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal restrictive dermopathy (Orphanet:1662)
Leukocyte adhesion deficiency (Orphanet:2968)
Lipodystrophy due to peptidic growth factors deficiency (Orphanet:1979)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
Lowry-MacLean syndrome (Orphanet:2409)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Mandibuloacral dysplasia (Orphanet:2457)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marden-Walker syndrome (Orphanet:2461)
Marfan syndrome (Orphanet:558)
Marfanoid habitus - intellectual deficit, autosomal recessive (Orphanet:2463)
Marshall syndrome (Orphanet:560)
Marshall-Smith syndrome (Orphanet:561)
McDonough syndrome (Orphanet:2471)
Meckel syndrome (Orphanet:564)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Mesomelia-synostoses syndrome (Orphanet:2496)
Mesomelic dwarfism - cleft palate - camptodactyly (Orphanet:2631)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Metaphyseal chondrodysplasia, Schmid type (Orphanet:174)
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty (Orphanet:2504)
Micro syndrome (Orphanet:2510)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephaly - cardiac defect - lung malsegmentation (Orphanet:2516)
Microcephaly - cervical spine fusion anomalies (Orphanet:2522)
Microcephaly - cleft palate (Orphanet:2521)
Microcephaly - deafness - intellectual deficit (Orphanet:2533)
Microcephaly-albinism-digital anomalies (Orphanet:2513)
Microcephaly-microcornea syndrome, Seemanova type (Orphanet:2528)
Microphthalmia - microtia - fetal akinesia (Orphanet:2547)
Microphthalmia with limb anomalies (Orphanet:1106)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Mikati-Najjar-Sahli syndrome (Orphanet:2558)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Moebius syndrome (Orphanet:570)
Monosomy 13q14 (Orphanet:1587)
Monosomy 18p (Orphanet:1598)
Monosomy 5p (Orphanet:281)
Monosomy 9p (Orphanet:261112)
Morse-Rawnsley-Sargent syndrome (Orphanet:2570)
Mosaic trisomy 14 (Orphanet:1703)
Mosaic trisomy 8 (Orphanet:96061)
Mosaic trisomy 9 (Orphanet:99776)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multicentric carpo-tarsal osteolysis with or without nephropathy (Orphanet:2774)
Multiple benign circumferential skin creases on limbs (Orphanet:2505)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
Mycophenolate mofetil embryopathy (Orphanet:268249)
Myotonia permanens (Orphanet:99735)
Nager syndrome (Orphanet:245)
Nephrogenic diabetes insipidus - intracranial calcification (Orphanet:3145)
Neu-Laxova syndrome (Orphanet:2671)
Neurogenic arthrogryposis multiplex congenita (Orphanet:1143)
Night blindness - skeletal anomalies - dysmorphism (Orphanet:1390)
Nijmegen breakage syndrome (Orphanet:647)
Non-distal trisomy 10q (Orphanet:1695)
Non-distal trisomy 13q (Orphanet:1702)
Noonan syndrome (Orphanet:648)
OSTEOMAS OF MANDIBLE (OMIM:166400)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculocerebrorenal syndrome (Orphanet:534)
Oculodentodigital dysplasia (Orphanet:2710)
Oculomaxillofacial dysostosis (Orphanet:1794)
Oliver syndrome (Orphanet:2920)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 10 (Orphanet:2756)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteogenesis imperfecta (Orphanet:666)
Osteoglophonic dwarfism (Orphanet:2645)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Osteoporosis - pseudoglioma (Orphanet:2788)
Osteosclerosis - developmental delay - craniosynostosis (Orphanet:178377)
Otodental syndrome (Orphanet:2791)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 2 (Orphanet:90652)
PARC syndrome (Orphanet:2825)
Pallister-Hall syndrome (Orphanet:672)
Paraplegia - intellectual deficit - hyperkeratosis (Orphanet:2824)
Paternal 20q13.2q13.3 microdeletion syndrome (Orphanet:261304)
Patterson-Stevenson-Fontaine syndrome (Orphanet:2439)
Penoscrotal transposition (Orphanet:2842)
Pentasomy X (Orphanet:11)
Perlman syndrome (Orphanet:2849)
Peters-plus syndrome (Orphanet:709)
Phocomelia, Schinzel type (Orphanet:2879)
Pierre Robin syndrome - faciodigital anomaly (Orphanet:2888)
Polysyndactyly - cardiac malformation (Orphanet:2934)
Postaxial acrofacial dysostosis (Orphanet:246)
Prolidase deficiency (Orphanet:742)
Prominent glabella - microcephaly - hypogenitalism (Orphanet:2083)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Pseudoprogeria syndrome (Orphanet:2985)
Ptosis - upper ocular movement limitation - absence of lacrimal punctum (Orphanet:228396)
Radio-renal syndrome (Orphanet:3015)
Ramon syndrome (Orphanet:3019)
Recombinant 8 syndrome (Orphanet:96167)
Renal-genital-middle ear anomalies (Orphanet:1092)
Rhizomelic syndrome, Urbach type (Orphanet:3098)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Ring chromosome 10 (Orphanet:1438)
Roberts syndrome (Orphanet:3103)
Robin sequence - oligodactyly (Orphanet:3104)
Rothmund-Thomson syndrome (Orphanet:2909)
Rubinstein-Taybi syndrome (Orphanet:783)
SCARF syndrome (Orphanet:3134)
SHORT syndrome (Orphanet:3163)
Sanjad-Sakati syndrome (Orphanet:2323)
Say-Barber-Miller syndrome (Orphanet:3132)
Schinzel-Giedion syndrome (Orphanet:798)
Schwartz-Jampel syndrome (Orphanet:800)
Sclerosteosis (Orphanet:3152)
Seckel syndrome (Orphanet:808)
Sheldon-Hall syndrome (Orphanet:1147)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Short stature - heart defect - craniofacial anomalies (Orphanet:1088)
Short stature - wormian bones - dextrocardia (Orphanet:2863)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Smith-Magenis syndrome (Orphanet:819)
Sotos syndrome (Orphanet:821)
Splenogonadal fusion - limb defects - micrognathia (Orphanet:2063)
Split hand - urinary anomalies - spina bifida (Orphanet:2437)
Sternal malformation - vascular dysplasia (Orphanet:3195)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 3 (Orphanet:166100)
Stoll-Alembik-Finck syndrome (Orphanet:3200)
Subaortic stenosis - short stature (Orphanet:3191)
Syngnathia multiple anomalies (Orphanet:3262)
TARP syndrome (Orphanet:2886)
Teebi-Shaltout syndrome (Orphanet:3291)
Temtamy syndrome (Orphanet:1777)
Tetraamelia - multiple malformations (Orphanet:3301)
Tetraploidy (Orphanet:3305)
Thrombocytopenia - Robin sequence (Orphanet:3323)
Thrombocytopenia - absent radius (Orphanet:3320)
Toluene embryopathy (Orphanet:1920)
Toriello-Carey syndrome (Orphanet:3338)
Treacher-Collins syndrome (Orphanet:861)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
Trigonocephaly - bifid nose - acral anomalies (Orphanet:3368)
Triploidy (Orphanet:3376)
Trisomy 12p (Orphanet:1699)
Trisomy 17p (Orphanet:261290)
Trisomy 18 (Orphanet:3380)
Trisomy 1q (Orphanet:261344)
Trisomy 20p (Orphanet:261318)
Trisomy 8q (Orphanet:1752)
Ulbright-Hodes syndrome (Orphanet:3404)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
VACTERL with hydrocephalus (Orphanet:3412)
Van Regemorter-Pierquin-Vamos syndrome (Orphanet:3419)
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence (Orphanet:3201)
Verloove Vanhorick-Brubakk syndrome (Orphanet:3429)
Vici syndrome (Orphanet:1493)
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay (Orphanet:73246)
WAGR syndrome (Orphanet:893)
WT limb-blood syndrome (Orphanet:3466)
Weaver syndrome (Orphanet:3447)
Weaver-Williams syndrome (Orphanet:3448)
White matter hypoplasia - corpus callosum agenesis - intellectual deficit (Orphanet:3207)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Williams syndrome (Orphanet:904)
Wolf-Hirschhorn syndrome (Orphanet:280)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet:163966)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
X-linked mandibulofacial dysostosis (Orphanet:1131)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger syndrome (Orphanet:912)
Zlotogora-Ogur syndrome (Orphanet:3253)