Downslanted palpebral fissures
Symptom Information:
Symptom ID: | HPO:0000494 | ||||||||||||||||||||||||||||||||||
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 head or neck(HPO:0000152) Abnormality of the head(HPO:0000234) Abnormality of the face(HPO:0000271) Abnormality of the periorbital region(HPO:0000606) Abnormality of the eyelid(HPO:0000492) Abnormality of the palpebral fissures(HPO:0008050) Slanting of the palpebral fissure(HPO:0200006) Downslanted palpebral fissures(HPO:0000494) obsolete Abnormality of the ocular region(HPO:0000284) Abnormality of the eyelid(HPO:0000492) Abnormality of the palpebral fissures(HPO:0008050) Slanting of the palpebral fissure(HPO:0200006) Downslanted palpebral fissures(HPO:0000494) MedDRA: |
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Database Frequency: | 328 / 7739 | ||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
10q22.3q23.3 microdeletion syndrome | (Orphanet:276413) |
14q12 microdeletion syndrome | (Orphanet:261144) |
15q11q13 microduplication syndrome | (Orphanet:238446) |
15q13.3 microdeletion syndrome | (Orphanet:199318) |
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
16p13.11 microdeletion syndrome | (Orphanet:261236) |
17p11.2 microduplication syndrome | (Orphanet:1713) |
17p13.3 microduplication syndrome | (Orphanet:217385) |
17q12 microdeletion syndrome | (Orphanet:261265) |
17q12 microduplication syndrome | (Orphanet:261272) |
1p36 deletion syndrome | (Orphanet:1606) |
20p12.3 microdeletion syndrome | (Orphanet:261295) |
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) |
3C syndrome | (Orphanet:7) |
3MC SYNDROME 2 | (OMIM:265050) |
3q29 microdeletion syndrome | (Orphanet:65286) |
3q29 microduplication | (Orphanet:251038) |
6q25 microdeletion syndrome | (Orphanet:251056) |
8q21.11 microdeletion syndrome | (Orphanet:284160) |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT | (OMIM:100050) |
AARSKOG-SCOTT SYNDROME | (OMIM:305400) |
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM | (OMIM:104350) |
Aarskog-Scott syndrome | (Orphanet:915) |
Acro-fronto-facio-nasal dysostosis | (Orphanet:1784) |
Acro-oto-ocular syndrome | (Orphanet:2980) |
Acro-renal-mandibular syndrome | (Orphanet:958) |
Acrocallosal syndrome | (Orphanet:36) |
Acrocraniofacial dysostosis | (Orphanet:949) |
Acrofacial dysostosis, Catania type | (Orphanet:1786) |
Acroosteolysis, dominant type | (Orphanet:955) |
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | (Orphanet:52055) |
Agnathia - holoprosencephaly - situs inversus | (Orphanet:990) |
Alagille syndrome | (Orphanet:52) |
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis | (Orphanet:86818) |
Antley-Bixler syndrome | (Orphanet:83) |
Aortic arch anomaly - peculiar facies - intellectual deficit | (Orphanet:1110) |
Apert syndrome | (Orphanet:87) |
Arterial tortuosity syndrome | (Orphanet:3342) |
Atkin-Flaitz syndrome | (Orphanet:1193) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant multiple pterygium syndrome | (Orphanet:65743) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive cutis laxa type 2 | (Orphanet:90350) |
Autosomal recessive cutis laxa type 2, classic type | (Orphanet:357074) |
Autosomal recessive cutis laxa type 2A | (Orphanet:357058) |
Autosomal recessive cutis laxa type 2B | (Orphanet:357064) |
Autosomal recessive facio-digito-genital syndrome | (Orphanet:1974) |
Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
Axial spondylometaphyseal dysplasia | (Orphanet:168549) |
Baller-Gerold syndrome | (Orphanet:1225) |
Bannayan-Riley-Ruvalcaba syndrome | (Orphanet:109) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bardet-Biedl syndrome 17 | (OMIM:615994) |
Blackfan-Diamond anemia | (Orphanet:124) |
Blepharophimosis - radioulnar synostosis | (Orphanet:1256) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
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 15q25 DELETION SYNDROME | (OMIM:614294) |
CHROMOSOME 17p13.1 DELETION SYNDROME | (OMIM:613776) |
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME | (OMIM:613603) |
CLARK-BARAITSER SYNDROME | (OMIM:300602) |
COLE-CARPENTER SYNDROME 2 | (OMIM:616294) |
CORNELIA DE LANGE SYNDROME 2 | (OMIM:300590) |
CRANIOMETADIAPHYSEAL DYSPLASIA | (OMIM:269300) |
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG | (OMIM:218649) |
CREE MENTAL RETARDATION SYNDROME | (OMIM:606851) |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | (OMIM:614437) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carey-Fineman-Ziter syndrome | (Orphanet:1358) |
Cat-eye syndrome | (Orphanet:195) |
Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
Cenani-Lenz syndrome | (Orphanet:3258) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Char syndrome | (Orphanet:46627) |
Coffin-Lowry syndrome | (Orphanet:192) |
Cohen syndrome | (Orphanet:193) |
Cole-Carpenter syndrome | (Orphanet:2050) |
Congenital short bowel syndrome | (Orphanet:2301) |
Cooks syndrome | (Orphanet:1487) |
Costello syndrome | (Orphanet:3071) |
Craniofacial dyssynostosis | (Orphanet:1516) |
Craniofacial-deafness-hand syndrome | (Orphanet:1529) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
Craniometadiaphyseal dysplasia, wormian bone type | (Orphanet:85184) |
Craniosynostosis - dysmorphism - brachydactyly | (Orphanet:1535) |
Cutis gyrata - acanthosis nigricans - craniosynostosis | (Orphanet:1555) |
Cutis laxa | (Orphanet:209) |
DIAMOND-BLACKFAN ANEMIA 1 | (OMIM:105650) |
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS | (OMIM:300946) |
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS | (OMIM:606164) |
DPM1-CDG | (Orphanet:79322) |
De Barsy syndrome | (Orphanet:2962) |
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) |
Desmosterolosis | (Orphanet:35107) |
Distal 22q11.2 microduplication syndrome | (Orphanet:261337) |
Distal monosomy 10p | (Orphanet:1580) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 6p | (Orphanet:96125) |
Distal trisomy 15q | (Orphanet:1707) |
Donnai-Barrow syndrome | (Orphanet:2143) |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | (OMIM:601776) |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 | (OMIM:615539) |
Early infantile epileptic encephalopathy without suppression burst | (Orphanet:369894) |
Ectodermal dysplasia - intellectual deficit - central nervous system malformation | (Orphanet:1812) |
Ehlers-Danlos syndrome, dermatosparaxis type | (Orphanet:1901) |
Ehlers-Danlos syndrome, musculocontractural type | (Orphanet:2953) |
Ehlers-Danlos syndrome, spondylocheirodysplastic type | (Orphanet:157965) |
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria | (Orphanet:1035) |
FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION | (OMIM:227250) |
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS | (OMIM:227255) |
FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES,AND SPONTANEOUS FILTERING BLEBS | (OMIM:601552) |
Facial dysmorphism - shawl scrotum - joint laxity | (Orphanet:1778) |
Facial ectodermal dysplasia | (Orphanet:1807) |
Fallot complex - intellectual deficit - growth delay | (Orphanet:3304) |
Fibrochondrogenesis | (Orphanet:2021) |
Fibulo-ulnar hypoplasia - renal anomalies | (Orphanet:2256) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Frank-Ter Haar syndrome | (Orphanet:137834) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Frontometaphyseal dysplasia | (Orphanet:1826) |
GMS syndrome | (Orphanet:2090) |
Gamma-aminobutyric acid transaminase deficiency | (Orphanet:2066) |
Genito-palato-cardiac syndrome | (Orphanet:2075) |
Genitopatellar syndrome | (Orphanet:85201) |
German syndrome | (Orphanet:2077) |
Gingival fibromatosis - facial dysmorphism | (Orphanet:2025) |
Gingival fibromatosis-hypertrichosis syndrome | (Orphanet:2026) |
Goldberg-Shprintzen megacolon syndrome | (Orphanet:66629) |
Gonadal dysgenesis, XY type - associated anomalies | (Orphanet:1770) |
Gorlin-Chaudhry-Moss syndrome | (Orphanet:2095) |
Greig cephalopolysyndactyly syndrome | (Orphanet:380) |
Growth deficiency - brachydactyly - dysmorphism | (Orphanet:2055) |
HAJDU-CHENEY SYNDROME | (OMIM:102500) |
HELSMOORTEL-VAN DER AA SYNDROME | (OMIM:615873) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Hartsfield-Bixler-Demyer syndrome | (Orphanet:2117) |
Hereditary orotic aciduria | (Orphanet:30) |
Hirsutism - skeletal dysplasia - intellectual deficit | (Orphanet:2156) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hypertelorism - hypospadias - polysyndactyly syndrome | (Orphanet:2211) |
Hypertelorism, Teebi type | (Orphanet:1519) |
Hypertrichosis cubiti - short stature | (Orphanet:2220) |
Hypogonadism - mitral valve prolapse - intellectual deficit | (Orphanet:2233) |
Hypomandibular faciocranial dysostosis | (Orphanet:1790) |
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED | (OMIM:300048) |
Imperforate oropharynx - costo vetebral anomalies | (Orphanet:2759) |
Infantile spasms - broad thumbs | (Orphanet:3173) |
Intellectual deficit - cataracts - calcified pinnae - myopathy | (Orphanet:3042) |
Intellectual deficit - myopathy - short stature - endocrine defect | (Orphanet:3068) |
Intellectual deficit - sparse hair - brachydactyly | (Orphanet:3051) |
Intellectual deficit, Buenos-Aires type | (Orphanet:3079) |
Intellectual deficit, X-linked - craniofacioskeletal syndrome | (Orphanet:163979) |
Intellectual deficit, X-linked - cubitus valgus - dysmorphism | (Orphanet:85280) |
Intellectual deficit, X-linked, Armfield type | (Orphanet:85276) |
Intellectual deficit, X-linked, Vitale type | (Orphanet:85289) |
Intellectual deficit, X-linked, Wittwer type | (Orphanet:85291) |
Jacobsen syndrome | (Orphanet:2308) |
Joubert syndrome 14 | (OMIM:614424) |
Kozlowski-Brown-Hardwick syndrome | (Orphanet:2352) |
LACTIC ACIDURIA DUE TO D-LACTIC ACID | (OMIM:245450) |
LEOPARD SYNDROME 2 | (OMIM:611554) |
LOEYS-DIETZ SYNDROME 4 | (OMIM:614816) |
Lacrimo-auriculo-dento-digital syndrome | (Orphanet:2363) |
Larsen-like syndrome, B3GAT3 type | (Orphanet:284139) |
Lateral meningocele syndrome | (Orphanet:2789) |
Lathosterolosis | (Orphanet:46059) |
Legius syndrome | (Orphanet:137605) |
Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
Leukocyte adhesion deficiency | (Orphanet:2968) |
Lowry-MacLean syndrome | (Orphanet:2409) |
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY | (OMIM:606369) |
MACS syndrome | (Orphanet:217335) |
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY | (OMIM:248400) |
MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT | (OMIM:608257) |
MAXILLOFACIAL DYSOSTOSIS | (OMIM:155000) |
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTICFEATURES | (OMIM:613670) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 | (OMIM:614562) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 | (OMIM:614563) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 | (OMIM:615009) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 | (OMIM:616078) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | (OMIM:614202) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 | (OMIM:615637) |
MGAT2-CDG | (Orphanet:79329) |
MOMO syndrome | (Orphanet:2563) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
Malignant hyperthermia - arthrogryposis - torticollis | (Orphanet:2215) |
Mandibulofacial dysostosis - macroblepharon - macrostomia | (Orphanet:357158) |
Mandibulofacial dysostosis-microcephaly syndrome | (Orphanet:79113) |
Marden-Walker syndrome | (Orphanet:2461) |
Marfan syndrome type 1 | (Orphanet:284963) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Mesomelia-synostoses syndrome | (Orphanet:2496) |
Mevalonic aciduria | (Orphanet:29) |
Microbrachycephaly - ptosis - cleft lip | (Orphanet:2511) |
Microcephalic osteodysplastic primordial dwarfism type 2 | (Orphanet:2637) |
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 | (Orphanet:2636) |
Microcephalic primordial dwarfism, Toriello type | (Orphanet:2643) |
Microcephaly - brachydactyly - kyphoscoliosis | (Orphanet:3433) |
Microcephaly - intellectual deficit - phalangeal and neurological anomalies | (Orphanet:137658) |
Microcephaly - lymphedema - chorioretinopathy | (Orphanet:2526) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Microcephaly-cardiomyopathy syndrome | (Orphanet:2515) |
Microphthalmia with limb anomalies | (Orphanet:1106) |
Mietens syndrome | (Orphanet:2557) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | (Orphanet:369897) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 5p | (Orphanet:281) |
Monosomy 9p | (Orphanet:261112) |
Monosomy 9q22.3 | (Orphanet:77301) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Muenke syndrome | (Orphanet:53271) |
Mullerian derivatives - lymphangiectasia - polydactyly | (Orphanet:1655) |
NOONAN SYNDROME 1 | (OMIM:163950) |
NOONAN SYNDROME 4 | (OMIM:610733) |
NOONAN SYNDROME 8 | (OMIM:615355) |
Nager syndrome | (Orphanet:245) |
Native American myopathy | (Orphanet:168572) |
Nephrogenic diabetes insipidus - intracranial calcification | (Orphanet:3145) |
Neuroectodermal syndrome, Johnson type | (Orphanet:2316) |
Neurofaciodigitorenal syndrome | (Orphanet:2673) |
Neurofibromatosis - Noonan syndrome | (Orphanet:638) |
Night blindness - skeletal anomalies - dysmorphism | (Orphanet:1390) |
Non-distal trisomy 10q | (Orphanet:1695) |
Noonan syndrome | (Orphanet:648) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | (OMIM:257850) |
OPITZ-KAVEGGIA SYNDROME | (OMIM:305450) |
OTOFACIOOSSEOUS-GONADAL SYNDROME | (OMIM:601976) |
Occipital horn syndrome | (Orphanet:198) |
Oculoosteocutaneous syndrome | (Orphanet:2713) |
Omphalocele syndrome, Shprintzen-Goldberg type | (Orphanet:3164) |
Ondine syndrome | (Orphanet:661) |
Opitz G/BBB syndrome | (Orphanet:2745) |
Orofaciodigital syndrome type 1 | (Orphanet:2750) |
Orofaciodigital syndrome type 3 | (Orphanet:2752) |
Osteoglophonic dwarfism | (Orphanet:2645) |
Otopalatodigital syndrome | (Orphanet:669) |
Otopalatodigital syndrome type 1 | (Orphanet:90650) |
Otopalatodigital syndrome type 2 | (Orphanet:90652) |
Overgrowth - macrocephaly - facial dysmorphism | (Orphanet:137634) |
PHAVER syndrome | (Orphanet:2876) |
Pai syndrome | (Orphanet:1993) |
Pfeiffer syndrome | (Orphanet:710) |
Pfeiffer-Palm-Teller syndrome | (Orphanet:2871) |
Phocomelia - ectrodactyly - deafness - sinus arrhythmia | (Orphanet:2878) |
Postaxial acrofacial dysostosis | (Orphanet:246) |
Potocki-Shaffer syndrome | (Orphanet:52022) |
Prader-Willi syndrome | (Orphanet:739) |
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome | (Orphanet:276432) |
Premature chromosome condensation with microcephaly and intellectual deficit | (Orphanet:52183) |
Proteus syndrome | (Orphanet:744) |
Proteus-like syndrome | (Orphanet:2969) |
Pseudoprogeria syndrome | (Orphanet:2985) |
RIENHOFF SYNDROME | (OMIM:615582) |
ROBERTS SYNDROME | (OMIM:268300) |
Ring chromosome 1 | (Orphanet:1437) |
Ring chromosome 10 | (Orphanet:1438) |
Roberts syndrome | (Orphanet:3103) |
Roifman syndrome | (Orphanet:353298) |
Rubinstein-Taybi syndrome | (Orphanet:783) |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | (Orphanet:353281) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
Ruvalcaba syndrome | (Orphanet:3121) |
SCARF syndrome | (Orphanet:3134) |
SECKEL SYNDROME 1 | (OMIM:210600) |
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES | (OMIM:602471) |
SOTOS SYNDROME 1 | (OMIM:117550) |
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE | (OMIM:613744) |
STEVENSON-CAREY SYNDROME | (OMIM:611961) |
Sakati-Nyhan syndrome | (Orphanet:3128) |
Seckel syndrome | (Orphanet:808) |
Sheldon-Hall syndrome | (Orphanet:1147) |
Short stature - craniofacial anomalies - genital hypoplasia | (Orphanet:2994) |
Short stature - heart defect - craniofacial anomalies | (Orphanet:1088) |
Short stature - wormian bones - dextrocardia | (Orphanet:2863) |
Short tarsus - absence of lower eyelashes | (Orphanet:2832) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Simpson-Golabi-Behmel syndrome | (Orphanet:373) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Sotos syndrome | (Orphanet:821) |
Stoll-Alembik-Finck syndrome | (Orphanet:3200) |
Symptomatic form of Coffin-Lowry syndrome in female carriers | (Orphanet:276630) |
Syndromic diarrhea | (Orphanet:84064) |
TREACHER COLLINS SYNDROME 1 | (OMIM:154500) |
TREACHER COLLINS SYNDROME 2 | (OMIM:613717) |
TREACHER COLLINS SYNDROME 3 | (OMIM:248390) |
TRICHOHEPATOENTERIC SYNDROME 1 | (OMIM:222470) |
Temtamy syndrome | (Orphanet:1777) |
Tetrasomy 18p | (Orphanet:3307) |
Thanatophoric dysplasia | (Orphanet:2655) |
Thomas syndrome | (Orphanet:3316) |
Treacher-Collins syndrome | (Orphanet:861) |
Trisomy 17p | (Orphanet:261290) |
Trisomy 1q | (Orphanet:261344) |
Trisomy 20p | (Orphanet:261318) |
Trisomy 9p | (Orphanet:236) |
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME | (OMIM:300280) |
Ulbright-Hodes syndrome | (Orphanet:3404) |
Van Regemorter-Pierquin-Vamos syndrome | (Orphanet:3419) |
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence | (Orphanet:3201) |
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay | (Orphanet:73246) |
W syndrome | (Orphanet:2804) |
Waardenburg syndrome type 3 | (Orphanet:896) |
Weaver syndrome | (Orphanet:3447) |
White matter hypoplasia - corpus callosum agenesis - intellectual deficit | (Orphanet:3207) |
Wiedemann-Steiner syndrome | (Orphanet:319182) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
X-linked mandibulofacial dysostosis | (Orphanet:1131) |
XIA-GIBBS SYNDROME | (OMIM:615829) |
Zlotogora-Ogur syndrome | (Orphanet:3253) |
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME | (OMIM:601321) |