High palate
Symptom Information:
Symptom ID: | HPO:0000218 | |||||||||||||||||||||||||||||||||||
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 mouth(HPO:0000153) Abnormality of the oral cavity(HPO:0000163) Abnormality of the palate(HPO:0000174) High palate(HPO:0000218) MedDRA: Congenital, familial and genetic disorders(MedDRA:10010331) Gastrointestinal tract disorders congenital(MedDRA:10018018) Palate disorders congenital(MedDRA:10033530) High palate(HPO:0000218) |
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Database Frequency: | 356 / 7739 | |||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
14q11.2 microdeletion syndrome | (Orphanet:261120) |
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
17p11.2 microduplication syndrome | (Orphanet:1713) |
17q12 microdeletion syndrome | (Orphanet:261265) |
1p36 deletion syndrome | (Orphanet:1606) |
22q11.2 deletion syndrome | (Orphanet:567) |
22q11.2 microduplication syndrome | (Orphanet:1727) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
2q32q33 microdeletion syndrome | (Orphanet:251019) |
3q13 microdeletion syndrome | (Orphanet:1621) |
5p13 microduplication syndrome | (Orphanet:329802) |
8q22.1 microdeletion syndrome | (Orphanet:178303) |
AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT | (OMIM:613506) |
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA | (OMIM:613623) |
ALG3-CDG | (Orphanet:79321) |
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM | (OMIM:104350) |
AORTIC ANEURYSM, FAMILIAL THORACIC 9 | (OMIM:616166) |
Acro-oto-ocular syndrome | (Orphanet:2980) |
Acro-renal-mandibular syndrome | (Orphanet:958) |
Acrocallosal syndrome | (Orphanet:36) |
Adducted thumbs - arthrogryposis, Christian type | (Orphanet:2952) |
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | (Orphanet:52055) |
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
Aneurysm - osteoarthritis syndrome | (Orphanet:284984) |
Antenatal multiminicore disease with arthrogryposis multiplex congenita | (Orphanet:178148) |
Arterial tortuosity syndrome | (Orphanet:3342) |
Arthrogryposis with oculomotor limitation and electroretinal anomalies | (Orphanet:1154) |
Autosomal dominant Charcot-Marie-Tooth disease type 2E | (Orphanet:99939) |
Autosomal dominant Opitz G/BBB syndrome | (Orphanet:306588) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant hyper-IgE syndrome | (Orphanet:2314) |
Autosomal recessive centronuclear myopathy | (Orphanet:169186) |
Autosomal recessive cutis laxa type 2, classic type | (Orphanet:357074) |
Autosomal recessive cutis laxa type 2A | (Orphanet:357058) |
Autosomal recessive deafness-onychodystrophy syndrome | (Orphanet:79500) |
Autosomal recessive facio-digito-genital syndrome | (Orphanet:1974) |
Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | (Orphanet:331176) |
Autosomal recessive spastic paraplegia type 18 | (Orphanet:209951) |
Autosomal recessive spastic paraplegia type 54 | (Orphanet:320380) |
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY | (OMIM:210550) |
BOR syndrome | (Orphanet:107) |
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA | (OMIM:609945) |
BRANCHIOOTORENAL SYNDROME 1 | (OMIM:113650) |
Baller-Gerold syndrome | (Orphanet:1225) |
Bannayan-Riley-Ruvalcaba syndrome | (Orphanet:109) |
Barber-Say syndrome | (Orphanet:1231) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bardet-Biedl syndrome 17 | (OMIM:615994) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Blackfan-Diamond anemia | (Orphanet:124) |
Blepharophimosis - epicanthus inversus - ptosis | (Orphanet:126) |
Blepharophimosis-intellectual deficit syndrome, Verloes type | (Orphanet:293725) |
C syndrome | (Orphanet:1308) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
CARDIOFACIOCUTANEOUS SYNDROME 2 | (OMIM:615278) |
CARPENTER SYNDROME 1 | (OMIM:201000) |
CARPENTER SYNDROME 2 | (OMIM:614976) |
CATEL-MANZKE SYNDROME | (OMIM:616145) |
CHOANAL ATRESIA AND LYMPHEDEMA | (OMIM:613611) |
CHROMOSOME 16q22 DELETION SYNDROME | (OMIM:614541) |
CHROMOSOME 17p13.1 DELETION SYNDROME | (OMIM:613776) |
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED | (OMIM:613544) |
CHST3-related skeletal dysplasia | (Orphanet:263463) |
CK syndrome | (Orphanet:251383) |
CLEIDOCRANIAL DYSPLASIA | (OMIM:119600) |
COFFIN-SIRIS SYNDROME | (OMIM:135900) |
COLD-INDUCED SWEATING SYNDROME 1 | (OMIM:272430) |
COLD-INDUCED SWEATING SYNDROME 2 | (OMIM:610313) |
COLE-CARPENTER SYNDROME 2 | (OMIM:616294) |
CORNELIA DE LANGE SYNDROME 1 | (OMIM:122470) |
CORNELIA DE LANGE SYNDROME 2 | (OMIM:300590) |
CORNELIA DE LANGE SYNDROME 3 | (OMIM:610759) |
CORNELIA DE LANGE SYNDROME 5 | (OMIM:300882) |
COWDEN SYNDROME 5 | (OMIM:615108) |
COWDEN SYNDROME 6 | (OMIM:615109) |
CRANIOMETADIAPHYSEAL DYSPLASIA | (OMIM:269300) |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | (OMIM:614437) |
Camptodactyly - tall stature - scoliosis - hearing loss | (Orphanet:85164) |
Camptodactyly syndrome, Guadalajara type 1 | (Orphanet:1327) |
Cap myopathy | (Orphanet:171881) |
Cardiodysrhythmic potassium-sensitive periodic paralysis | (Orphanet:37553) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carnitine palmitoyl transferase II deficiency, neonatal form | (Orphanet:228308) |
Carpenter syndrome | (Orphanet:65759) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
Catel-Manzke syndrome | (Orphanet:1388) |
Cerebro-costo-mandibular syndrome | (Orphanet:1393) |
Cerebro-facio-articular syndrome | (Orphanet:314679) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Cerebro-oculo-nasal syndrome | (Orphanet:66625) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Classic multiminicore myopathy | (Orphanet:324604) |
Classical homocystinuria | (Orphanet:394) |
Cleidocranial dysplasia | (Orphanet:1452) |
Coffin-Lowry syndrome | (Orphanet:192) |
Coffin-Siris syndrome | (Orphanet:1465) |
Cold-induced sweating syndrome | (Orphanet:157820) |
Congenital contractural arachnodactyly | (Orphanet:115) |
Congenital fiber-type disproportion myopathy | (Orphanet:2020) |
Congenital intrauterine infection-like syndrome | (Orphanet:1229) |
Congenital lethal myopathy, Compton-North type | (Orphanet:210163) |
Congenital multicore myopathy with external ophthalmoplegia | (Orphanet:98905) |
Congenital muscular dystrophy with intellectual disability and severe epilepsy | (Orphanet:329178) |
Congenital muscular dystrophy, Ullrich type | (Orphanet:75840) |
Congenital myopathy with excess of thin filaments | (Orphanet:98904) |
Congenital pseudoarthrosis of clavicle | (Orphanet:66630) |
Cooks syndrome | (Orphanet:1487) |
Cornelia de Lange syndrome | (Orphanet:199) |
Corpus callosum agenesis - neuronopathy | (Orphanet:1496) |
Costello syndrome | (Orphanet:3071) |
Cowden syndrome | (Orphanet:201) |
Coxo-podo-patellar syndrome | (Orphanet:1509) |
Cranio-osteoarthropathy | (Orphanet:1525) |
Cranioectodermal dysplasia | (Orphanet:1515) |
Cranioectodermal dysplasia 1 | (OMIM:218330) |
Craniofacial dysplasia-osteopenia syndrome | (Orphanet:314555) |
Craniometadiaphyseal dysplasia, wormian bone type | (Orphanet:85184) |
DIAMOND-BLACKFAN ANEMIA 1 | (OMIM:105650) |
DIGEORGE SYNDROME | (OMIM:188400) |
Desmin-related myopathy with Mallory body-like inclusions | (Orphanet:84132) |
Distal limb deficiencies - micrognathia syndrome | (Orphanet:1307) |
Distal monosomy 3p | (Orphanet:1620) |
Distal monosomy 6p | (Orphanet:96125) |
Dopamine beta-hydroxylase deficiency | (Orphanet:230) |
Dubowitz syndrome | (Orphanet:235) |
Dysmorphism - conductive hearing loss - heart defect | (Orphanet:289553) |
Dysosteosclerosis | (Orphanet:1782) |
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES | (OMIM:609944) |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | (OMIM:601776) |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 | (OMIM:615539) |
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY | (OMIM:614520) |
Ear-patella-short stature syndrome | (Orphanet:2554) |
Ehlers-Danlos syndrome, musculocontractural type | (Orphanet:2953) |
Ehlers-Danlos syndrome, spondylocheirodysplastic type | (Orphanet:157965) |
Emanuel syndrome | (Orphanet:96170) |
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria | (Orphanet:1035) |
FEINGOLD SYNDROME 1 | (OMIM:164280) |
FETAL AKINESIA DEFORMATION SEQUENCE | (OMIM:208150) |
FRONTOOCULAR SYNDROME | (OMIM:605321) |
Familial mitral valve prolapse | (Orphanet:741) |
Feingold syndrome | (Orphanet:1305) |
Fetal akinesia deformation sequence | (Orphanet:994) |
Frank-Ter Haar syndrome | (Orphanet:137834) |
Free sialic acid storage disease, infantile form | (Orphanet:309324) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Frontometaphyseal dysplasia | (Orphanet:1826) |
Fumaric aciduria | (Orphanet:24) |
GCS1-CDG | (Orphanet:79330) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Gingival fibromatosis - facial dysmorphism | (Orphanet:2025) |
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea | (Orphanet:238763) |
Gordon syndrome | (Orphanet:376) |
Gorlin-Chaudhry-Moss syndrome | (Orphanet:2095) |
Gómez-López-Hernández syndrome | (Orphanet:1532) |
HAJDU-CHENEY SYNDROME | (OMIM:102500) |
HOLOPROSENCEPHALY 5 | (OMIM:609637) |
HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA | (OMIM:308700) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Harrod syndrome | (Orphanet:2115) |
Hennekam-Beemer syndrome | (Orphanet:2135) |
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia | (Orphanet:79091) |
Hereditary sensory and autonomic neuropathy type 6 | (Orphanet:314381) |
Holmes-Gang syndrome | (Orphanet:93970) |
Hyaline body myopathy | (Orphanet:53698) |
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly | (Orphanet:2180) |
Hypertelorism - hypospadias - polysyndactyly syndrome | (Orphanet:2211) |
Hypotonia-cerebral atrophy-hyperglycinemia syndrome | (Orphanet:363424) |
IMMUNODEFICIENCY 23 | (OMIM:615816) |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 | (OMIM:614069) |
Ichthyosis-cheek-eyebrow syndrome | (Orphanet:2267) |
Intellectual deficit, Birk-Barel type | (Orphanet:166108) |
Intellectual deficit, Buenos-Aires type | (Orphanet:3079) |
Intellectual deficit, X-linked - psychosis - macroorchidism | (Orphanet:3077) |
Intellectual disability-developmental delay-contractures syndrome | (Orphanet:3454) |
Isolated congenital hypoglossia/aglossia | (Orphanet:141152) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome with orofaciodigital defect | (Orphanet:2754) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
KABUKI SYNDROME 1 | (OMIM:147920) |
KABUKI SYNDROME 2 | (OMIM:300867) |
KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA | (OMIM:308750) |
KEPPEN-LUBINSKY SYNDROME | (OMIM:614098) |
KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS | (OMIM:245160) |
Kabuki syndrome | (Orphanet:2322) |
Keipert syndrome | (Orphanet:2662) |
Koolen-De Vries syndrome | (Orphanet:96169) |
LOEYS-DIETZ SYNDROME 4 | (OMIM:614816) |
LUJAN-FRYNS SYNDROME | (OMIM:309520) |
Laing distal myopathy | (Orphanet:59135) |
Lateral meningocele syndrome | (Orphanet:2789) |
Lathosterolosis | (Orphanet:46059) |
Legius syndrome | (Orphanet:137605) |
Leprechaunism | (Orphanet:508) |
Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
Lhermitte-Duclos disease | (Orphanet:65285) |
Léri-Weill dyschondrosteosis | (Orphanet:240) |
MACS syndrome | (Orphanet:217335) |
MARFANOID HYPERMOBILITY SYNDROME | (OMIM:154750) |
MEIER-GORLIN SYNDROME 1 | (OMIM:224690) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 | (OMIM:616078) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 | (OMIM:616158) |
MENTAL RETARDATION, X-LINKED 30 | (OMIM:300558) |
MENTAL RETARDATION, X-LINKED 90 | (OMIM:300850) |
MENTAL RETARDATION, X-LINKED 91 | (OMIM:300577) |
MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 | (OMIM:300676) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III | (OMIM:210730) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
MOMO syndrome | (Orphanet:2563) |
MOVED TO 210600 | (OMIM:608664) |
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:616326) |
MYASTHENIC SYNDROME, CONGENITAL, 14 | (OMIM:616228) |
MYASTHENIC SYNDROME, CONGENITAL, 16 | (OMIM:614198) |
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL | (OMIM:601462) |
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL | (OMIM:608930) |
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL | (OMIM:616313) |
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL | (OMIM:616322) |
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:616323) |
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:608931) |
MYASTHENIC SYNDROME, CONGENITAL, 8 | (OMIM:615120) |
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET | (OMIM:614399) |
MYOPATHY, CENTRONUCLEAR, 5 | (OMIM:615959) |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION | (OMIM:255310) |
Madelung deformity | (Orphanet:35688) |
Mandibuloacral dysplasia | (Orphanet:2457) |
Mandibuloacral dysplasia with type A lipodystrophy | (Orphanet:90153) |
Marden-Walker syndrome | (Orphanet:2461) |
Marfan syndrome type 1 | (Orphanet:284963) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Menkes disease | (Orphanet:565) |
Methylmalonic acidemia with homocystinuria | (Orphanet:26) |
Methylmalonic acidemia with homocystinuria, type cblF | (Orphanet:79284) |
Micrencephaly - corpus callosum agenesis - abnormal genitalia | (Orphanet:2508) |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | (Orphanet:217026) |
Microcephaly - glomerulonephritis - marfanoid habitus | (Orphanet:2172) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Microphthalmia with limb anomalies | (Orphanet:1106) |
Mitochondrial myopathy and sideroblastic anemia | (Orphanet:2598) |
Moebius syndrome | (Orphanet:570) |
Monosomy 18p | (Orphanet:1598) |
Monosomy 22q13 | (Orphanet:48652) |
Monosomy 5p | (Orphanet:281) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Muenke syndrome | (Orphanet:53271) |
Mulibrey nanism | (Orphanet:2576) |
Mullerian derivatives - lymphangiectasia - polydactyly | (Orphanet:1655) |
Multiple congenital anomalies - hypotonia - seizures syndrome | (Orphanet:280633) |
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | (Orphanet:300496) |
Multiple endocrine neoplasia type 2B | (Orphanet:247709) |
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 | (OMIM:600462) |
NEMALINE MYOPATHY 1 | (OMIM:609284) |
NEMALINE MYOPATHY 2 | (OMIM:256030) |
NEMALINE MYOPATHY 4 | (OMIM:609285) |
NEMALINE MYOPATHY 7 | (OMIM:610687) |
NEMALINE MYOPATHY 9 | (OMIM:615731) |
NEU-LAXOVA SYNDROME 2 | (OMIM:616038) |
NOONAN SYNDROME 1 | (OMIM:163950) |
Native American myopathy | (Orphanet:168572) |
Nemaline myopathy | (Orphanet:607) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
Noonan syndrome | (Orphanet:648) |
OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS | (OMIM:257790) |
OROFACIODIGITAL SYNDROME VI | (OMIM:277170) |
OSTEOGENESIS IMPERFECTA, TYPE XII | (OMIM:613849) |
Occipital horn syndrome | (Orphanet:198) |
Oculocerebrofacial syndrome, Kaufman type | (Orphanet:2707) |
Oculopharyngodistal myopathy | (Orphanet:98897) |
Opitz G/BBB syndrome | (Orphanet:2745) |
Orofaciodigital syndrome type 1 | (Orphanet:2750) |
Orofaciodigital syndrome type 2 | (Orphanet:2751) |
Orofaciodigital syndrome type 4 | (Orphanet:2753) |
Orofaciodigital syndrome type 8 | (Orphanet:2755) |
Orofaciodigital syndrome type 9 | (Orphanet:141007) |
Osteoglophonic dwarfism | (Orphanet:2645) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 2B | (OMIM:202370) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 | (OMIM:615803) |
PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED | (OMIM:177850) |
Pachygyria - epilepsy - intellectual deficit - dysmorphism | (Orphanet:94084) |
Pai syndrome | (Orphanet:1993) |
Paraplegia - brachydactyly - cone-shaped epiphysis | (Orphanet:2823) |
Paraplegia - intellectual deficit - hyperkeratosis | (Orphanet:2824) |
Perrault Syndrome | (Orphanet:2855) |
Perrault Syndrome 1 | (OMIM:233400) |
Perrault Syndrome 5 | (OMIM:616138) |
Pfeiffer syndrome | (Orphanet:710) |
Phocomelia, Schinzel type | (Orphanet:2879) |
Polyvalvular heart disease syndrome | (Orphanet:228410) |
Pontocerebellar hypoplasia type 3 | (Orphanet:97249) |
Proteus-like syndrome | (Orphanet:2969) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Pseudoxanthoma elasticum | (Orphanet:758) |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency | (Orphanet:88618) |
Pyruvate dehydrogenase E3-binding protein deficiency | (Orphanet:255182) |
Qazi-Markouizos syndrome | (Orphanet:3010) |
RAPADILINO syndrome | (Orphanet:3021) |
RIENHOFF SYNDROME | (OMIM:615582) |
ROBERTS SYNDROME | (OMIM:268300) |
Rabson-Mendenhall syndrome | (Orphanet:769) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Renpenning syndrome | (Orphanet:3242) |
Rhizomelic chondrodysplasia punctata type 2 | (Orphanet:309796) |
Richieri Costa-Pereira syndrome | (Orphanet:3102) |
Rigid spine syndrome | (Orphanet:97244) |
Roberts syndrome | (Orphanet:3103) |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | (Orphanet:353281) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | (Orphanet:353284) |
SECKEL SYNDROME 1 | (OMIM:210600) |
SENER SYNDROME | (OMIM:606156) |
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS | (OMIM:609654) |
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES | (OMIM:602471) |
SOTOS SYNDROME 1 | (OMIM:117550) |
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE | (OMIM:614066) |
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES | (OMIM:612948) |
Seckel syndrome | (Orphanet:808) |
Severe intellectual deficit and progressive spastic paraplegia | (Orphanet:280763) |
Sheldon-Hall syndrome | (Orphanet:1147) |
Short stature - valvular heart disease - characteristic facies | (Orphanet:2868) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Sialuria | (Orphanet:3166) |
Simpson-Golabi-Behmel syndrome type 2 | (Orphanet:79022) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Sotos syndrome | (Orphanet:821) |
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification | (Orphanet:93358) |
Spondyloepimetaphyseal dysplasia with joint laxity | (Orphanet:93359) |
Spondyloepimetaphyseal dysplasia, Bieganski type | (Orphanet:168448) |
Syndromic X-linked intellectual deficit due to JARID1C mutation | (Orphanet:85279) |
TARP syndrome | (Orphanet:2886) |
TEMPLE SYNDROME | (OMIM:616222) |
THAI SYMPHALANGISM SYNDROME | (OMIM:608028) |
TMCO1 defect syndrome | (Orphanet:228407) |
Trigonocephaly - short stature - developmental delay | (Orphanet:3369) |
Ulbright-Hodes syndrome | (Orphanet:3404) |
VAN MALDERGEM SYNDROME 1 | (OMIM:601390) |
VAN MALDERGEM SYNDROME 2 | (OMIM:615546) |
Van den Ende-Gupta syndrome | (Orphanet:2460) |
Velo-facial-skeletal syndrome | (Orphanet:3424) |
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME | (OMIM:602418) |
WHISTLING FACE SYNDROME, RECESSIVE FORM | (OMIM:277720) |
Warsaw breakage syndrome | (Orphanet:280558) |
Wiedemann-Steiner syndrome | (Orphanet:319182) |
Wolcott-Rallison syndrome | (Orphanet:1667) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked Opitz G/BBB syndrome | (Orphanet:306597) |
X-linked centronuclear myopathy | (Orphanet:596) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
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) |
Zellweger syndrome | (Orphanet:912) |
Zimmermann-Laband syndrome | (Orphanet:3473) |