Hypertelorism

Symptom Information:

Symptom ID: HPO:0000316
Synonyms:
Increased interpupillary distance [HPO:0000316]
Ocular hypertelorism [HPO:0000316]
Wide-set eyes [HPO:0000316]
Widely spaced eyes [HPO:0000316]
Widened interpupillary distance [HPO:0000316]
Widely spaced eyes [Orphanet:3320]
Hypertelorism (disorder) [Orphanet:3320]
Hypertelorism of orbit (disorder) [Orphanet:3320]
Orbital separation excessive [Orphanet:3320]
Hypertelorism [OMIM:Hypertelorism]
Ocular hypertelorism [OMIM:Ocular hypertelorism]
Wide-set eyes [OMIM:Wide-set eyes]
Widely spaced eyes [OMIM:Widely spaced eyes]
Hypertelorism [Orphanet:3320]
Hypertelorism of orbit [Orphanet:3320]
Hypertelorism of orbit [MedDRA:10020771]
Hypertelorism [MedDRA:10020771]
Hypertelorism (1 patient) [OMIM:Hypertelorism (1 patient)]
Hypertelorism (100%) [OMIM:Hypertelorism (100%)]
Hypertelorism (12%) [OMIM:Hypertelorism (12%)]
Hypertelorism (2/4 patients) [OMIM:Hypertelorism (2/4 patients)]
Hypertelorism (25%) [OMIM:Hypertelorism (25%)]
Hypertelorism (in 1 family) [OMIM:Hypertelorism (in 1 family)]
Hypertelorism (in some patients) [OMIM:Hypertelorism (in some patients)]
Hypertelorism (major feature) [OMIM:Hypertelorism (major feature)]
Hypertelorism (males and females) [OMIM:Hypertelorism (males and females)]
Hypertelorism (rare) [OMIM:Hypertelorism (rare)]
Hypertelorism (reported in 1 patient) [OMIM:Hypertelorism (reported in 1 patient)]
Hypertelorism (some) [OMIM:Hypertelorism (some)]
Widely-spaced eyes [OMIM:Widely-spaced eyes]
Quality:
Cross references:
Orphanet:3320 "Hypertelorism" [Orphanet:3320]
OMIM: "Hypertelorism" [OMIM:Hypertelorism]
OMIM: "Ocular hypertelorism" [OMIM:Ocular hypertelorism]
OMIM: "Wide-set eyes" [OMIM:Wide-set eyes]
OMIM: "Widely spaced eyes" [OMIM:Widely spaced eyes]
OMIM: "Hypertelorism (1 patient)" [OMIM:Hypertelorism (1 patient)]
OMIM: "Hypertelorism (100%)" [OMIM:Hypertelorism (100%)]
OMIM: "Hypertelorism (12%)" [OMIM:Hypertelorism (12%)]
OMIM: "Hypertelorism (2/4 patients)" [OMIM:Hypertelorism (2/4 patients)]
OMIM: "Hypertelorism (25%)" [OMIM:Hypertelorism (25%)]
OMIM: "Hypertelorism (in 1 family)" [OMIM:Hypertelorism (in 1 family)]
OMIM: "Hypertelorism (in some patients)" [OMIM:Hypertelorism (in some patients)]
OMIM: "Hypertelorism (major feature)" [OMIM:Hypertelorism (major feature)]
OMIM: "Hypertelorism (males and females)" [OMIM:Hypertelorism (males and females)]
OMIM: "Hypertelorism (rare)" [OMIM:Hypertelorism (rare)]
OMIM: "Hypertelorism (reported in 1 patient)" [OMIM:Hypertelorism (reported in 1 patient)]
OMIM: "Hypertelorism (some)" [OMIM:Hypertelorism (some)]
OMIM: "Widely-spaced eyes" [OMIM:Widely-spaced eyes]
UMLS:C0020534 "Orbital separation excessive" [Orphanet:3320]
Is a (Direct Parents):
HPO         Abnormality of globe location
MedDRA Orbital structural change, deposit and degeneration
Orphanet Abnormal facial shape
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of globe location(HPO:0100886)
                   Hypertelorism(HPO:0000316)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                obsolete Abnormality of the ocular region(HPO:0000284)
                   Abnormality of globe location(HPO:0100886)
                      Hypertelorism(HPO:0000316)
                Abnormality of the orbital region(HPO:0000315)
                   Abnormality of globe location(HPO:0100886)
                      Hypertelorism(HPO:0000316)
MedDRA:
Eye disorders(MedDRA:10015919)
    Ocular structural change, deposit and degeneration NEC(MedDRA:10042261)
       Orbital structural change, deposit and degeneration(MedDRA:10031055)
          Hypertelorism(HPO:0000316)
Database Frequency: 644 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
14q11.2 microdeletion syndrome (Orphanet:261120)
15q13.3 microdeletion syndrome (Orphanet:199318)
15q24 microdeletion syndrome (Orphanet:94065)
17p11.2 microduplication syndrome (Orphanet:1713)
17p13.3 microduplication syndrome (Orphanet:217385)
17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
19p13.12 microdeletion syndrome (Orphanet:254346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microduplication syndrome (Orphanet:250994)
1q44 microdeletion syndrome (Orphanet:238769)
20p12.3 microdeletion syndrome (Orphanet:261295)
22q11.2 deletion syndrome (Orphanet:567)
22q11.2 microduplication syndrome (Orphanet:1727)
2q31.1 microdeletion syndrome (Orphanet:251014)
3C syndrome (Orphanet:7)
3MC SYNDROME 1 (OMIM:257920)
3MC SYNDROME 2 (OMIM:265050)
3MC SYNDROME 3 (OMIM:248340)
3q13 microdeletion syndrome (Orphanet:1621)
48,XXXY syndrome (Orphanet:96263)
48,XXYY syndrome (Orphanet:10)
49,XXXXY syndrome (Orphanet:96264)
4q21 microdeletion syndrome (Orphanet:238750)
5p13 microduplication syndrome (Orphanet:329802)
5q14.3 microdeletion syndrome (Orphanet:228384)
6q16 deletion syndrome (Orphanet:171829)
6q25 microdeletion syndrome (Orphanet:251056)
8p11.2 deletion syndrome (Orphanet:251066)
8p23.1 microduplication syndrome (Orphanet:251076)
8q21.11 microdeletion syndrome (Orphanet:284160)
8q22.1 microdeletion syndrome (Orphanet:178303)
AARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
AARSKOG-SCOTT SYNDROME (OMIM:305400)
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT (OMIM:613506)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
ALG1-CDG (Orphanet:79327)
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM (OMIM:104350)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES (OMIM:300887)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES (OMIM:109120)
AXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Aarskog-Scott syndrome (Orphanet:915)
Ablepharon macrostomia syndrome (Orphanet:920)
Acalvaria (Orphanet:945)
Acro-cardio-facial syndrome (Orphanet:2008)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acro-renal-ocular syndrome (Orphanet:959)
Acrocallosal syndrome (Orphanet:36)
Acrocephalopolydactyly (Orphanet:221054)
Acrocraniofacial dysostosis (Orphanet:949)
Acrodysostosis (Orphanet:950)
Acrodysostosis with multiple hormone resistance (Orphanet:280651)
Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Acromegaloid facial appearance syndrome (Orphanet:965)
Acromelic frontonasal dysplasia (Orphanet:1827)
Acroosteolysis, dominant type (Orphanet:955)
Alagille syndrome (Orphanet:52)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Alar cartilages hypoplasia - coloboma - telecanthus (Orphanet:2007)
Alopecia - contractures - dwarfism - intellectual deficit (Orphanet:1005)
Alpha-mannosidosis (Orphanet:61)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Anauxetic dysplasia (Orphanet:93347)
Aneurysm - osteoarthritis syndrome (Orphanet:284984)
Anophthalmia plus syndrome (Orphanet:1104)
Antley-Bixler syndrome (Orphanet:83)
Apert syndrome (Orphanet:87)
Arachnodactyly - abnormal ossification - intellectual deficit (Orphanet:1129)
Arachnodactyly - intellectual deficit - dysmorphism (Orphanet:1130)
Arrhinia (Orphanet:1134)
Arrhinia - choanal atresia - microphthalmia (Orphanet:1135)
Arterial calcification, generalized, of infancy, 1 (OMIM:208000)
Arterial tortuosity syndrome (Orphanet:3342)
Ascher syndrome (Orphanet:1253)
Aspartylglucosaminuria (Orphanet:93)
Atkin-Flaitz syndrome (Orphanet:1193)
Autosomal agammaglobulinemia (Orphanet:33110)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant cutis laxa (Orphanet:90348)
Autosomal dominant hyper-IgE syndrome (Orphanet:2314)
Autosomal dominant omodysplasia (Orphanet:93328)
Autosomal recessive Kenny-Caffey syndrome (Orphanet:93324)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive cutis laxa type 2 (Orphanet:90350)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive spastic paraplegia type 20 (Orphanet:101000)
Axenfeld-Rieger syndrome (Orphanet:782)
Axial mesodermal dysplasia spectrum (Orphanet:1834)
Axial spondylometaphyseal dysplasia (Orphanet:168549)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Baller-Gerold syndrome (Orphanet:1225)
Baraitser-Winter syndrome (Orphanet:2995)
Barber-Say syndrome (Orphanet:1231)
Bardet-Biedl syndrome 17 (OMIM:615994)
Bartsocas-Papas syndrome (Orphanet:1234)
Beckwith-Wiedemann syndrome due to 11p15 microdeletion (Orphanet:231127)
Behr syndrome (Orphanet:1239)
Bifid nose (Orphanet:2695)
Bifunctional enzyme deficiency (Orphanet:300)
Bilateral renal agenesis (Orphanet:1848)
Blackfan-Diamond anemia (Orphanet:124)
Blepharo-cheilo-odontic syndrome (Orphanet:1997)
Blepharophimosis - ptosis - esotropia - syndactyly - short stature (Orphanet:2057)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Bohring-Opitz syndrome (Orphanet:97297)
Brachytelephalangy - dysmorphism - Kallmann syndrome (Orphanet:1295)
Braddock syndrome (Orphanet:52047)
Branchio-oculo-facial syndrome (Orphanet:1297)
Branchio-skeleto-genital syndrome (Orphanet:1299)
CAMPOMELIC DYSPLASIA (OMIM:114290)
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III (OMIM:611929)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CARPENTER SYNDROME 2 (OMIM:614976)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
CEDNIK syndrome (Orphanet:66631)
CHARGE syndrome (Orphanet:138)
CHROMOSOME 15q11.2 DELETION SYNDROME (OMIM:615656)
CHROMOSOME 15q25 DELETION SYNDROME (OMIM:614294)
CHROMOSOME 16q22 DELETION SYNDROME (OMIM:614541)
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED (OMIM:613544)
CHST3-related skeletal dysplasia (Orphanet:263463)
CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
COLE-CARPENTER SYNDROME 2 (OMIM:616294)
CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
CREE MENTAL RETARDATION SYNDROME (OMIM:606851)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS (OMIM:605685)
Campomelic dysplasia (Orphanet:140)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carpenter-Waziri syndrome (Orphanet:93973)
Cat-eye syndrome (Orphanet:195)
Catel-Manzke syndrome (Orphanet:1388)
Cenani-Lenz syndrome (Orphanet:3258)
Central diabetes insipidus (Orphanet:178029)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
Cerebro-reno-digital syndrome (Orphanet:1396)
Char syndrome (Orphanet:46627)
Charlie M syndrome (Orphanet:1406)
Choanal atresia - deafness - cardiac defects - dysmorphism (Orphanet:1200)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Cleft lip/palate - intestinal malrotation - cardiopathy (Orphanet:2001)
Cleidocranial dysplasia (Orphanet:1452)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Coffin-Lowry syndrome (Orphanet:192)
Combined immunodeficiency with facio-oculo-skeletal anomalies (Orphanet:221139)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Congenital lethal myopathy, Compton-North type (Orphanet:210163)
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome (Orphanet:306504)
Congenital osteogenesis imperfecta - microcephaly - cataracts (Orphanet:2772)
Congenital pulmonary lymphangiectasia (Orphanet:2414)
Congenital short bowel syndrome (Orphanet:2301)
Congenital sodium diarrhea (Orphanet:103908)
Conotruncal heart malformations (Orphanet:2445)
Corneal anesthesia - deafness - intellectual deficit (Orphanet:1051)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Costello syndrome (Orphanet:3071)
Crane-Heise syndrome (Orphanet:1512)
Craniodiaphyseal dysplasia (Orphanet:1513)
Cranioectodermal dysplasia 2 (OMIM:613610)
Craniofacial dysplasia-osteopenia syndrome (Orphanet:314555)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofacial-deafness-hand syndrome (Orphanet:1529)
Craniofacial-ulnar-renal syndrome (Orphanet:293843)
Craniofaciofrontodigital syndrome (Orphanet:363705)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniolenticulosutural dysplasia (Orphanet:50814)
Craniometaphyseal dysplasia (Orphanet:1522)
Craniosynostosis - Dandy-Walker malformation - hydrocephalus (Orphanet:1538)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
Craniosynostosis and dental anomalies (Orphanet:284149)
Craniosynostosis, Herrmann-Opitz type (Orphanet:2145)
Crouzon disease (Orphanet:207)
Crouzon syndrome - acanthosis nigricans (Orphanet:93262)
Curry-Jones syndrome (Orphanet:1553)
Cutis gyrata - acanthosis nigricans - craniosynostosis (Orphanet:1555)
Cutis laxa (Orphanet:209)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (Orphanet:221145)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
Cystic fibrosis - gastritis - megaloblastic anemia (Orphanet:2575)
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL (OMIM:125700)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
DIAMOND-BLACKFAN ANEMIA 5 (OMIM:612528)
DIGEORGE SYNDROME (OMIM:188400)
DPM1-CDG (Orphanet:79322)
De Barsy syndrome (Orphanet:2962)
Deafness - genital anomalies - metacarpal and metatarsal synostosis (Orphanet:3224)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Deafness - onychodystrophy (Orphanet:3231)
Deafness with labyrinthine aplasia, microtia, and microdontia (Orphanet:90024)
Delayed membranous cranial ossification (Orphanet:3034)
Delayed speech - facial asymmetry - strabismus - ear lobe creases (Orphanet:3038)
Dermato-cardio-skeletal syndrome, Borrone type (Orphanet:1266)
Developmental malformations - deafness - dystonia (Orphanet:79107)
Diaphanospondylodysostosis (Orphanet:66637)
Diaphragmatic defect - limb deficiency - skull defect (Orphanet:2141)
Diastrophic dwarfism (Orphanet:628)
Dislocation of the hip - dysmorphism (Orphanet:2412)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal monosomy 10p (Orphanet:1580)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 13q (Orphanet:1590)
Distal monosomy 17q (Orphanet:1597)
Distal monosomy 1q (Orphanet:36367)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 6p (Orphanet:96125)
Distal monosomy 9p (Orphanet:1642)
Donnai-Barrow syndrome (Orphanet:2143)
Dubowitz syndrome (Orphanet:235)
Dysmorphism - multiple structural anomalies (Orphanet:1780)
Dysmorphism - short stature - deafness - disorder of sex development (Orphanet:2282)
Dysosteosclerosis (Orphanet:1782)
Dysostosis, Stanescu type (Orphanet:1798)
EEC syndrome (Orphanet:1896)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY (OMIM:614520)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Ehlers-Danlos syndrome, arthrochalasic type (Orphanet:1899)
Ehlers-Danlos syndrome, dermatosparaxis type (Orphanet:1901)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
Epiphyseal dysplasia - hearing loss - dysmorphism (Orphanet:1825)
Extrasystoles - short stature - hyperpigmentation - microcephaly (Orphanet:1964)
Eye defects - arachnodactyly - cardiopathy (Orphanet:2725)
FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION (OMIM:227250)
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS (OMIM:227255)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
FETAL AKINESIA DEFORMATION SEQUENCE (OMIM:208150)
FG SYNDROME 4 (OMIM:300422)
FGFR2-related bent bone dysplasia (Orphanet:313855)
FRONTOFACIONASAL DYSPLASIA (OMIM:229400)
Facial dysmorphism - shawl scrotum - joint laxity (Orphanet:1778)
Faciocardiorenal syndrome (Orphanet:1973)
Fallot complex - intellectual deficit - growth delay (Orphanet:3304)
Familial intestinal malrotation - facial anomalies (Orphanet:2454)
Familial lambdoid synostosis (Orphanet:3267)
Familial scaphocephaly syndrome, McGillivray type (Orphanet:168624)
Fanconi anemia (Orphanet:84)
Fetal Gaucher disease (Orphanet:85212)
Fetal akinesia deformation sequence (Orphanet:994)
Fetal hydantoin syndrome (Orphanet:1912)
Fibrochondrogenesis (Orphanet:2021)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Fine-Lubinsky syndrome (Orphanet:1272)
Frank-Ter Haar syndrome (Orphanet:137834)
Fraser syndrome (Orphanet:2052)
Freeman-Sheldon syndrome (Orphanet:2053)
Frontal encephalocele (Orphanet:1931)
Fronto-facio-nasal dysostosis (Orphanet:1791)
Frontometaphyseal dysplasia (Orphanet:1826)
Frontonasal dysplasia (Orphanet:250)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome (Orphanet:306542)
Fryns syndrome (Orphanet:2059)
Fucosidosis (Orphanet:349)
Fumaric aciduria (Orphanet:24)
GAPO syndrome (Orphanet:2067)
GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
GM1 gangliosidosis (Orphanet:354)
GM1 gangliosidosis type 1 (Orphanet:79255)
Galloway-Mowat syndrome (Orphanet:2065)
Gastrocutaneous syndrome (Orphanet:2069)
Geleophysic dysplasia (Orphanet:2623)
Genito-palato-cardiac syndrome (Orphanet:2075)
Genitopatellar syndrome (Orphanet:85201)
Gingival fibromatosis - facial dysmorphism (Orphanet:2025)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Gorlin syndrome (Orphanet:377)
Gorlin-Chaudhry-Moss syndrome (Orphanet:2095)
Greenberg dysplasia (Orphanet:1426)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
Growth deficiency - brachydactyly - dysmorphism (Orphanet:2055)
Gómez-López-Hernández syndrome (Orphanet:1532)
HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES (OMIM:234800)
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 (OMIM:616006)
HOLOPROSENCEPHALY 5 (OMIM:609637)
HOLOPROSENCEPHALY 7 (OMIM:610828)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 (OMIM:614749)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
HYPERTELORISM (OMIM:145400)
HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES (OMIM:614684)
HYPERTELORISM AND TETRALOGY OF FALLOT (OMIM:239711)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Hall-Riggs syndrome (Orphanet:2107)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Heart defect - tongue hamartoma - polysyndactyly (Orphanet:1338)
Hennekam syndrome (Orphanet:2136)
Hereditary orotic aciduria (Orphanet:30)
Hirschsprung disease - deafness - polydactyly (Orphanet:2155)
Hirsutism - skeletal dysplasia - intellectual deficit (Orphanet:2156)
Holmes-Gang syndrome (Orphanet:93970)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - caudal dysgenesis (Orphanet:2165)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly (Orphanet:2180)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hyperphosphatasia-intellectual deficiency syndrome (Orphanet:247262)
Hypertelorism - hypospadias - polysyndactyly syndrome (Orphanet:2211)
Hypertelorism, Teebi type (Orphanet:1519)
Hypertelorism-microtia-facial clefting syndrome (Orphanet:2213)
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome (Orphanet:293958)
Hypertryptophanemia (Orphanet:2224)
Hypospadias - hypertelorism - coloboma and deafness (Orphanet:157788)
ICF syndrome (Orphanet:2268)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1 (OMIM:242860)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 (OMIM:614069)
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Infantile spasms - broad thumbs (Orphanet:3173)
Intellectual deficit - athetosis - microphthalmia (Orphanet:1236)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual deficit - short stature - hypertelorism (Orphanet:3074)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, Wolff type (Orphanet:3080)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration (Orphanet:85317)
Intellectual deficit, X-linked - seizures - psoriasis (Orphanet:3052)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Isolated brachycephaly (Orphanet:35099)
Isolated glycerol kinase deficiency (Orphanet:408)
Isotretinoin-like syndrome (Orphanet:2306)
Ito hypomelanosis (Orphanet:435)
Jackson-Weiss syndrome (Orphanet:1540)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome 14 (OMIM:614424)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Juberg-Hayward syndrome (Orphanet:2319)
Juberg-Marsidi syndrome (Orphanet:93972)
Juvenile polyposis syndrome (Orphanet:2929)
KBG syndrome (Orphanet:2332)
KERATOCONUS POSTICUS CIRCUMSCRIPTUS (OMIM:244600)
Kaler-Garrity-Stern syndrome (Orphanet:2324)
Keipert syndrome (Orphanet:2662)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Kozlowski-Brown-Hardwick syndrome (Orphanet:2352)
LAMBOTTE SYNDROME (OMIM:245552)
LEOPARD SYNDROME 1 (OMIM:151100)
LEOPARD SYNDROME 2 (OMIM:611554)
LEOPARD SYNDROME 3 (OMIM:613707)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Lateral meningocele syndrome (Orphanet:2789)
Laurin-Sandrow syndrome (Orphanet:2378)
Legius syndrome (Orphanet:137605)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Leprechaunism (Orphanet:508)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lethal Larsen-like syndrome (Orphanet:2371)
Lethal congenital contracture syndrome type 1 (Orphanet:1486)
Lethal multiple pterygium syndrome (Orphanet:33108)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal restrictive dermopathy (Orphanet:1662)
Leukocyte adhesion deficiency (Orphanet:2968)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
MELAS (Orphanet:550)
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE (OMIM:609037)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 (OMIM:615009)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (OMIM:614202)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35 (OMIM:615162)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE (OMIM:300861)
MOMO syndrome (Orphanet:2563)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Macrostomia - preauricular tags - external ophthalmoplegia (Orphanet:83619)
Mandibulofacial dysostosis - macroblepharon - macrostomia (Orphanet:357158)
Marden-Walker syndrome (Orphanet:2461)
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)
Meckel syndrome, type 1 (OMIM:249000)
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus (Orphanet:83473)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Mesomelia-synostoses syndrome (Orphanet:2496)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Moebius syndrome (Orphanet:570)
Monosomy 13q14 (Orphanet:1587)
Monosomy 18p (Orphanet:1598)
Monosomy 18q (Orphanet:1600)
Monosomy 5p (Orphanet:281)
Monosomy 9p (Orphanet:261112)
Mosaic trisomy 14 (Orphanet:1703)
Mosaic trisomy 8 (Orphanet:96061)
Mosaic trisomy 9 (Orphanet:99776)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism (Orphanet:280679)
Mucopolysaccharidosis type 2 (Orphanet:580)
Muenke syndrome (Orphanet:53271)
Mulibrey nanism (Orphanet:2576)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multiple epiphyseal dysplasia, Al-Gazali type (Orphanet:166024)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
Mycophenolate mofetil embryopathy (Orphanet:268249)
Myhre syndrome (Orphanet:2588)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
NEU-LAXOVA SYNDROME 2 (OMIM:616038)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
NOONAN SYNDROME 1 (OMIM:163950)
NOONAN SYNDROME 3 (OMIM:609942)
NOONAN SYNDROME 4 (OMIM:610733)
NOONAN SYNDROME 6 (OMIM:613224)
NOONAN SYNDROME 7 (OMIM:613706)
NOONAN SYNDROME 8 (OMIM:615355)
Nasal dermoid cyst (Orphanet:141103)
Nasopalpebral lipoma - coloboma - telecanthus (Orphanet:2399)
Neu-Laxova syndrome (Orphanet:2671)
Neurofaciodigitorenal syndrome (Orphanet:2673)
Neurofibromatosis - Noonan syndrome (Orphanet:638)
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion (Orphanet:363700)
Neurological conditions associated with aminoacylase 1 deficiency (Orphanet:137754)
Non-distal trisomy 10q (Orphanet:1695)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculodentodigital dysplasia (Orphanet:2710)
Oculotrichoanal syndrome (Orphanet:2717)
Okamoto syndrome (Orphanet:2729)
Okihiro syndrome (Orphanet:93293)
Opitz G/BBB syndrome (Orphanet:2745)
Opsismodysplasia (Orphanet:2746)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 2 (Orphanet:2751)
Orofaciodigital syndrome type 3 (Orphanet:2752)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Orofaciodigital syndrome type 5 (Orphanet:2919)
Orofaciodigital syndrome type 8 (Orphanet:2755)
Orofaciodigital syndrome type 9 (Orphanet:141007)
Osteocraniostenosis (Orphanet:2763)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteoglophonic dwarfism (Orphanet:2645)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism (Orphanet:91133)
Osteosclerosis - developmental delay - craniosynostosis (Orphanet:178377)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 1 (Orphanet:90650)
Otopalatodigital syndrome type 2 (Orphanet:90652)
PACHYGYRIA, FRONTOTEMPORAL (OMIM:610279)
PARIETAL FORAMINA 2 (OMIM:609597)
PELGER-HUET ANOMALY (OMIM:169400)
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA (OMIM:263210)
POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
PYCR1-related DeBarsy syndrome (Orphanet:293633)
Pachygyria - epilepsy - intellectual deficit - dysmorphism (Orphanet:94084)
Pai syndrome (Orphanet:1993)
Paternal 20q13.2q13.3 microdeletion syndrome (Orphanet:261304)
Pentasomy X (Orphanet:11)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Peters-plus syndrome (Orphanet:709)
Pfeiffer syndrome (Orphanet:710)
Pfeiffer syndrome type 1 (Orphanet:93258)
Pfeiffer syndrome type 2 (Orphanet:93259)
Pfeiffer syndrome type 3 (Orphanet:93260)
Pilotto syndrome (Orphanet:2894)
Poikiloderma with neutropenia (Orphanet:221046)
Polysyndactyly - cardiac malformation (Orphanet:2934)
Prolidase deficiency (Orphanet:742)
Proteus syndrome (Orphanet:744)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Pseudoaminopterin syndrome (Orphanet:221120)
Pterygium colli - intellectual deficit - digital anomalies (Orphanet:2988)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Pyruvate dehydrogenase deficiency (Orphanet:765)
Qazi-Markouizos syndrome (Orphanet:3010)
RENAL AND MULLERIAN DUCT HYPOPLASIA (OMIM:266810)
RIENHOFF SYNDROME (OMIM:615582)
ROBERTS SYNDROME (OMIM:268300)
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
ROBINOW-SORAUF SYNDROME (OMIM:180750)
Rasmussen-Johnsen-Thomsen syndrome (Orphanet:3023)
Recombinant 8 syndrome (Orphanet:96167)
Renal tubular dysgenesis (Orphanet:3033)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Ring chromosome 10 (Orphanet:1438)
Ring chromosome 6 (Orphanet:1448)
Roberts syndrome (Orphanet:3103)
Robinow-like syndrome (Orphanet:3105)
Rothmund-Thomson syndrome (Orphanet:2909)
Rubinstein-Taybi syndrome (Orphanet:783)
SCHIZOPHRENIA 1 (OMIM:181510)
SCLEROSTEOSIS 1 (OMIM:269500)
SCLEROSTEOSIS 2 (OMIM:614305)
SENER SYNDROME (OMIM:606156)
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB (OMIM:615087)
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
SHORT syndrome (Orphanet:3163)
SPONASTRIME dysplasia (Orphanet:93357)
SRD5A3-CDG (Orphanet:324737)
STEEL SYNDROME (OMIM:615155)
Saethre-Chotzen syndrome (Orphanet:794)
Sakati-Nyhan syndrome (Orphanet:3128)
Say-Barber-Miller syndrome (Orphanet:3132)
Schinzel-Giedion syndrome (Orphanet:798)
Schwartz-Jampel syndrome (Orphanet:800)
Sclerosteosis (Orphanet:3152)
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia (Orphanet:94066)
Short rib-polydactyly syndrome (Orphanet:1505)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet:314394)
Short-rib thoracic dysplasia 13 with or without polydactyly (OMIM:616300)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Sialuria (Orphanet:3166)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Smith-Magenis syndrome (Orphanet:819)
Sotos syndrome (Orphanet:821)
Spondylo-megaepiphyseal-metaphyseal dysplasia (Orphanet:228387)
Spondylo-ocular syndrome (Orphanet:85194)
Spondylocarpotarsal synostosis (Orphanet:3275)
Spondylocostal dysostosis - anal and genitourinary malformations (Orphanet:94095)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet:93346)
Spondyloepimetaphyseal dysplasia, Bieganski type (Orphanet:168448)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Spondylometaphyseal dysplasia, Golden type (Orphanet:168544)
Stickler syndrome (Orphanet:828)
Suarez-Stickler syndrome (Orphanet:166277)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet:308386)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B (Orphanet:308393)
Summitt syndrome (Orphanet:3210)
Symptomatic form of Coffin-Lowry syndrome in female carriers (Orphanet:276630)
Syndromic diarrhea (Orphanet:84064)
TEMPLE-BARAITSER SYNDROME (OMIM:611816)
TMCO1 defect syndrome (Orphanet:228407)
TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
TRIGONOCEPHALY 2 (OMIM:614485)
Teebi-Shaltout syndrome (Orphanet:3291)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Telecanthus - hypertelorism - strabismus - pes cavus (Orphanet:3293)
Temtamy syndrome (Orphanet:1777)
Terminal osseous dysplasia - pigmentary defects (Orphanet:88630)
Tetrasomy 12p (Orphanet:884)
Tetrasomy X (Orphanet:9)
Thomas syndrome (Orphanet:3316)
Timothy syndrome (Orphanet:65283)
Torg-Winchester syndrome (Orphanet:3460)
Toriello-Carey syndrome (Orphanet:3338)
Treacher-Collins syndrome (Orphanet:861)
Triopia (Orphanet:3374)
Triploidy (Orphanet:3376)
Trisomy 12p (Orphanet:1699)
Trisomy 17p (Orphanet:261290)
Trisomy 18 (Orphanet:3380)
Trisomy 1q (Orphanet:261344)
Trisomy 20p (Orphanet:261318)
Trisomy 4p (Orphanet:1738)
Trisomy 5p (Orphanet:1742)
Trisomy 8q (Orphanet:1752)
Trisomy 9p (Orphanet:236)
Trisomy X (Orphanet:3375)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Van Regemorter-Pierquin-Vamos syndrome (Orphanet:3419)
Van den Ende-Gupta syndrome (Orphanet:2460)
Velo-facial-skeletal syndrome (Orphanet:3424)
Vici syndrome (Orphanet:1493)
W syndrome (Orphanet:2804)
WHISTLING FACE SYNDROME, RECESSIVE FORM (OMIM:277720)
WIDOW'S PEAK (OMIM:194000)
Waardenburg syndrome type 1 (Orphanet:894)
Weaver syndrome (Orphanet:3447)
Weaver-Williams syndrome (Orphanet:3448)
Weissenbacher- Zweymuller syndrome (Orphanet:3450)
White forelock with malformations (Orphanet:2475)
White matter hypoplasia - corpus callosum agenesis - intellectual deficit (Orphanet:3207)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wiedemann-Steiner syndrome (Orphanet:319182)
Wolcott-Rallison syndrome (Orphanet:1667)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wrinkly skin syndrome (Orphanet:2834)
X-linked Opitz G/BBB syndrome (Orphanet:306597)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked lethal multiple pterygium syndrome (Orphanet:79447)
XIA-GIBBS SYNDROME (OMIM:615829)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger syndrome (Orphanet:912)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)
Zunich-Kaye syndrome (Orphanet:3474)
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)