Hypertelorism
Symptom Information:
Symptom ID: | HPO:0000316 | ||||||||||||||||||||||||||||||
Synonyms: |
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Quality: | |||||||||||||||||||||||||||||||
Cross references: |
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Is a (Direct Parents): |
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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) |
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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) |