Low-set ears
Symptom Information:
Symptom ID: | HPO:0000369 | |||||||||||||||||||
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 ear(HPO:0000598) Abnormality of the outer ear(HPO:0000356) Abnormal location of ears(HPO:0000357) Low-set ears(HPO:0000369) MedDRA: Congenital, familial and genetic disorders(MedDRA:10010331) Ear and labyrinthine disorders congenital(MedDRA:10013995) External ear disorders congenital(MedDRA:10015733) Low-set ears(HPO:0000369) |
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Database Frequency: | 372 / 7739 | |||||||||||||||||||
Resource: |
All diseases associated with this symptom:
14q11.2 microdeletion syndrome | (Orphanet:261120) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
16p13.3 microduplication syndrome | (Orphanet:96078) |
17q11.2 microduplication syndrome | (Orphanet:139474) |
19q13.11 microdeletion syndrome | (Orphanet:217346) |
1p36 deletion syndrome | (Orphanet:1606) |
22q11.2 deletion syndrome | (Orphanet:567) |
22q11.2 microduplication syndrome | (Orphanet:1727) |
2q23.1 microdeletion syndrome | (Orphanet:228402) |
2q32q33 microdeletion syndrome | (Orphanet:251019) |
3C syndrome | (Orphanet:7) |
3q13 microdeletion syndrome | (Orphanet:1621) |
3q29 microdeletion syndrome | (Orphanet:65286) |
5p13 microduplication syndrome | (Orphanet:329802) |
5q14.3 microdeletion syndrome | (Orphanet:228384) |
8q21.11 microdeletion syndrome | (Orphanet:284160) |
8q22.1 microdeletion syndrome | (Orphanet:178303) |
ADAMS-OLIVER SYNDROME 2 | (OMIM:614219) |
AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT | (OMIM:613506) |
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA | (OMIM:613623) |
AICA-ribosiduria | (Orphanet:250977) |
AICARDI-GOUTIERES SYNDROME 4 | (OMIM:610333) |
ALDH18A1-related De Barsy syndrome | (Orphanet:35664) |
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM | (OMIM:104350) |
AREDYLD syndrome | (Orphanet:1133) |
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 | (OMIM:613404) |
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 | (OMIM:170995) |
AURICULOCONDYLAR SYNDROME 1 | (OMIM:602483) |
AURICULOCONDYLAR SYNDROME 2 | (OMIM:614669) |
Acro-cardio-facial syndrome | (Orphanet:2008) |
Acro-oto-ocular syndrome | (Orphanet:2980) |
Acro-renal-mandibular syndrome | (Orphanet:958) |
Acrocephalopolydactyly | (Orphanet:221054) |
Acrofacial dysostosis, Rodriguez type | (Orphanet:1788) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | (Orphanet:52055) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Antenatal multiminicore disease with arthrogryposis multiplex congenita | (Orphanet:178148) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Auriculocondylar syndrome | (Orphanet:137888) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant nonsyndromic intellectual deficit | (Orphanet:178469) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
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 multiple pterygium syndrome | (Orphanet:2990) |
BARAITSER-WINTER SYNDROME 1 | (OMIM:243310) |
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY | (OMIM:210550) |
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY | (OMIM:601357) |
BRACHYMESOMELIA-RENAL SYNDROME | (OMIM:113470) |
BRANCHIOOTIC SYNDROME 1 | (OMIM:602588) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Barber-Say syndrome | (Orphanet:1231) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bartsocas-Papas syndrome | (Orphanet:1234) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Bilateral renal agenesis | (Orphanet:1848) |
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency | (Orphanet:329255) |
Blepharophimosis-intellectual deficit syndrome, Verloes type | (Orphanet:293725) |
Bohring-Opitz syndrome | (Orphanet:97297) |
Branchio-oculo-facial syndrome | (Orphanet:1297) |
C syndrome | (Orphanet:1308) |
CAMPOMELIC DYSPLASIA | (OMIM:114290) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
CARDIOFACIOCUTANEOUS SYNDROME 2 | (OMIM:615278) |
CARPENTER SYNDROME 1 | (OMIM:201000) |
CARPENTER SYNDROME 2 | (OMIM:614976) |
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:601088) |
CATEL-MANZKE SYNDROME | (OMIM:616145) |
CEREBELLOFACIODENTAL SYNDROME | (OMIM:616202) |
CEREBROOCULOFACIOSKELETAL SYNDROME 4 | (OMIM:610758) |
CHROMOSOME 16q22 DELETION SYNDROME | (OMIM:614541) |
CHROMOSOME 1p32-p31 DELETION SYNDROME | (OMIM:613735) |
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME | (OMIM:613603) |
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED | (OMIM:613544) |
CLN10 disease | (Orphanet:228337) |
COLD-INDUCED SWEATING SYNDROME 1 | (OMIM:272430) |
CORNELIA DE LANGE SYNDROME 1 | (OMIM:122470) |
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) |
Campomelic dysplasia | (Orphanet:140) |
Camptodactyly syndrome, Guadalajara type 1 | (Orphanet:1327) |
Camptodactyly syndrome, Guadalajara type 2 | (Orphanet:1326) |
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) |
Cat-eye syndrome | (Orphanet:195) |
Catel-Manzke syndrome | (Orphanet:1388) |
Cerebro-costo-mandibular syndrome | (Orphanet:1393) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Cerebro-oculo-nasal syndrome | (Orphanet:66625) |
Char syndrome | (Orphanet:46627) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Cold-induced sweating syndrome | (Orphanet:157820) |
Combined oxidative phosphorylation defect type 2 | (Orphanet:254920) |
Congenital brain dysgenesis due to glutamine synthetase deficiency | (Orphanet:71278) |
Congenital intrauterine infection-like syndrome | (Orphanet:1229) |
Congenital neuronal ceroid lipofuscinosis | (Orphanet:168486) |
Congenital short bowel syndrome | (Orphanet:2301) |
Congenital sodium diarrhea | (Orphanet:103908) |
Connective tissue disorder due to lysyl hydroxylase-3 deficiency | (Orphanet:300284) |
Corneal anesthesia - deafness - intellectual deficit | (Orphanet:1051) |
Cornelia de Lange syndrome | (Orphanet:199) |
Costello syndrome | (Orphanet:3071) |
Cranioectodermal dysplasia 2 | (OMIM:613610) |
Craniofacial dysplasia-osteopenia syndrome | (Orphanet:314555) |
Craniofaciofrontodigital syndrome | (Orphanet:363705) |
Craniometadiaphyseal dysplasia, wormian bone type | (Orphanet:85184) |
DIAMOND-BLACKFAN ANEMIA 10 | (OMIM:613309) |
DIAMOND-BLACKFAN ANEMIA 5 | (OMIM:612528) |
DIGEORGE SYNDROME | (OMIM:188400) |
DWARFISM, FAMILIAL, WITH MUSCLE SPASMS | (OMIM:600771) |
Dandy-Walker malformation - postaxial polydactyly | (Orphanet:1566) |
De Barsy syndrome | (Orphanet:2962) |
Deafness - intellectual deficit, Martin-Probst type | (Orphanet:85321) |
Delayed membranous cranial ossification | (Orphanet:3034) |
Delayed speech - facial asymmetry - strabismus - ear lobe creases | (Orphanet:3038) |
Desmosterolosis | (Orphanet:35107) |
Diaphanospondylodysostosis | (Orphanet:66637) |
Diaphragmatic defect - limb deficiency - skull defect | (Orphanet:2141) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 15q | (Orphanet:1596) |
Distal monosomy 1q | (Orphanet:36367) |
Distal monosomy 3p | (Orphanet:1620) |
Distal monosomy 6p | (Orphanet:96125) |
Donnai-Barrow syndrome | (Orphanet:2143) |
Dubowitz syndrome | (Orphanet:235) |
Dysmorphism - conductive hearing loss - heart defect | (Orphanet:289553) |
Ear-patella-short stature syndrome | (Orphanet:2554) |
Emanuel syndrome | (Orphanet:96170) |
Endocrine-cerebro-osteodysplasia syndrome | (Orphanet:199332) |
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 | (OMIM:614744) |
FANCONI ANEMIA, COMPLEMENTATION GROUP B | (OMIM:300514) |
FANCONI ANEMIA, COMPLEMENTATION GROUP Q | (OMIM:615272) |
FEINGOLD SYNDROME 1 | (OMIM:164280) |
FGFR2-related bent bone dysplasia | (Orphanet:313855) |
FIBROCHONDROGENESIS 1 | (OMIM:228520) |
FORSYTHE-WAKELING SYNDROME | (OMIM:613606) |
FRONTOOCULAR SYNDROME | (OMIM:605321) |
Feingold syndrome | (Orphanet:1305) |
Femoral-facial syndrome | (Orphanet:1988) |
Fetal Gaucher disease | (Orphanet:85212) |
Fibrochondrogenesis | (Orphanet:2021) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Focal dermal hypoplasia | (Orphanet:2092) |
Frank-Ter Haar syndrome | (Orphanet:137834) |
Fraser syndrome | (Orphanet:2052) |
Frontonasal dysplasia | (Orphanet:250) |
Fryns syndrome | (Orphanet:2059) |
GMS syndrome | (Orphanet:2090) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Genito-palato-cardiac syndrome | (Orphanet:2075) |
Goldberg-Shprintzen megacolon syndrome | (Orphanet:66629) |
Greenberg dysplasia | (Orphanet:1426) |
Gómez-López-Hernández syndrome | (Orphanet:1532) |
HAJDU-CHENEY SYNDROME | (OMIM:102500) |
HYDROLETHALUS SYNDROME 1 | (OMIM:236680) |
HYPERTELORISM AND TETRALOGY OF FALLOT | (OMIM:239711) |
HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES | (OMIM:609943) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Hartsfield-Bixler-Demyer syndrome | (Orphanet:2117) |
Hennekam syndrome | (Orphanet:2136) |
Hereditary sensory and autonomic neuropathy type 6 | (Orphanet:314381) |
Hermansky-Pudlak syndrome with neutropenia | (Orphanet:183678) |
Holmes-Gang syndrome | (Orphanet:93970) |
Holoprosencephaly - postaxial polydactyly | (Orphanet:2166) |
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly | (Orphanet:2180) |
Hydrolethalus | (Orphanet:2189) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hypertelorism - hypospadias - polysyndactyly syndrome | (Orphanet:2211) |
Hypotonia with lactic acidemia and hyperammonemia | (Orphanet:137908) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
ICF syndrome | (Orphanet:2268) |
IMAGe syndrome | (Orphanet:85173) |
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES | (OMIM:615966) |
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) |
Intellectual deficit, Buenos-Aires type | (Orphanet:3079) |
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy | (Orphanet:2958) |
Intellectual deficit, X-linked, Brooks type | (Orphanet:3056) |
Intellectual deficit, X-linked, Kroes type | (Orphanet:163961) |
Intellectual disability-developmental delay-contractures syndrome | (Orphanet:3454) |
Isolated ATP synthase deficiency | (Orphanet:254913) |
Isolated congenital hypoglossia/aglossia | (Orphanet:141152) |
Isolated glycerol kinase deficiency | (Orphanet:408) |
Jacobsen syndrome | (Orphanet:2308) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome 1 | (OMIM:213300) |
Joubert syndrome 10 | (OMIM:300804) |
Joubert syndrome 14 | (OMIM:614424) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome 3 | (OMIM:608629) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
Joubert syndrome with orofaciodigital defect | (Orphanet:2754) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
Kapur-Toriello syndrome | (Orphanet:2328) |
Kyphomelic dysplasia | (Orphanet:1801) |
LEOPARD SYNDROME 1 | (OMIM:151100) |
LEOPARD SYNDROME 2 | (OMIM:611554) |
LEOPARD SYNDROME 3 | (OMIM:613707) |
LUBS X-LINKED MENTAL RETARDATION SYNDROME | (OMIM:300260) |
LUJAN-FRYNS SYNDROME | (OMIM:309520) |
Larsen-like osseous dysplasia - short stature | (Orphanet:2370) |
Larsen-like syndrome, B3GAT3 type | (Orphanet:284139) |
Lateral meningocele syndrome | (Orphanet:2789) |
Leprechaunism | (Orphanet:508) |
Lethal Kniest-like dysplasia | (Orphanet:2347) |
Lethal arthrogryposis - anterior horn cell disease | (Orphanet:53696) |
Lethal multiple pterygium syndrome | (Orphanet:33108) |
Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
Lethal restrictive dermopathy | (Orphanet:1662) |
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY | (OMIM:606369) |
MEIER-GORLIN SYNDROME 1 | (OMIM:224690) |
MEIER-GORLIN SYNDROME 4 | (OMIM:613804) |
MEIER-GORLIN SYNDROME 5 | (OMIM:613805) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 | (OMIM:615009) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 | (OMIM:615866) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 | (OMIM:616078) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | (OMIM:616268) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35 | (OMIM:615162) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | (OMIM:210710) |
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY | (OMIM:615760) |
MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES | (OMIM:607597) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA | (OMIM:608624) |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 | (OMIM:604273) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 | (OMIM:257300) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
MOVED TO 614732 | (OMIM:300290) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 | (OMIM:614643) |
MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY | (OMIM:601347) |
Mandibulofacial dysostosis-microcephaly syndrome | (Orphanet:79113) |
Marden-Walker syndrome | (Orphanet:2461) |
Marshall syndrome | (Orphanet:560) |
Marshall-Smith syndrome | (Orphanet:561) |
Matthew-Wood syndrome | (Orphanet:2470) |
Meckel syndrome | (Orphanet:564) |
Meckel syndrome, type 1 | (OMIM:249000) |
Meckel syndrome, type 12 | (OMIM:616258) |
Meckel syndrome, type 8 | (OMIM:613885) |
Methylmalonic acidemia with homocystinuria | (Orphanet:26) |
Methylmalonic acidemia with homocystinuria, type cblC | (Orphanet:79282) |
Methylmalonic acidemia with homocystinuria, type cblF | (Orphanet:79284) |
Mevalonic aciduria | (Orphanet:29) |
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 | (Orphanet:2636) |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | (Orphanet:217026) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Microcephaly-cardiomyopathy syndrome | (Orphanet:2515) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Microphthalmia with limb anomalies | (Orphanet:1106) |
Miller-Dieker syndrome | (Orphanet:531) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Monosomy 5p | (Orphanet:281) |
Monosomy 9p | (Orphanet:261112) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism | (Orphanet:280679) |
Mucopolysaccharidosis type 2, severe form | (Orphanet:217085) |
Mulibrey nanism | (Orphanet:2576) |
Mullerian derivatives - lymphangiectasia - polydactyly | (Orphanet:1655) |
Multiple epiphyseal dysplasia, Lowry type | (Orphanet:166016) |
Myhre syndrome | (Orphanet:2588) |
NEMALINE MYOPATHY 2 | (OMIM:256030) |
NEU-LAXOVA SYNDROME 2 | (OMIM:616038) |
NOONAN SYNDROME 3 | (OMIM:609942) |
NOONAN SYNDROME 6 | (OMIM:613224) |
NOONAN SYNDROME 7 | (OMIM:613706) |
NOONAN SYNDROME 8 | (OMIM:615355) |
Nager syndrome | (Orphanet:245) |
Native American myopathy | (Orphanet:168572) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
Nephronophthisis 3 | (OMIM:604387) |
Neuralgic amyotrophy | (Orphanet:2901) |
Non-eruption of teeth - maxillary hypoplasia - genu valgum | (Orphanet:2972) |
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) |
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | (OMIM:257850) |
OROFACIODIGITAL SYNDROME VI | (OMIM:277170) |
OTOFACIOCERVICAL SYNDROME 2 | (OMIM:615560) |
OTOFACIOOSSEOUS-GONADAL SYNDROME | (OMIM:601976) |
Oculoosteocutaneous syndrome | (Orphanet:2713) |
Ondine syndrome | (Orphanet:661) |
Orofaciodigital syndrome type 1 | (Orphanet:2750) |
Orofaciodigital syndrome type 3 | (Orphanet:2752) |
Orofaciodigital syndrome type 4 | (Orphanet:2753) |
Osteoglophonic dwarfism | (Orphanet:2645) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
Otopalatodigital syndrome | (Orphanet:669) |
Otopalatodigital syndrome type 2 | (Orphanet:90652) |
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) | (OMIM:614866) |
PREMATURE AGING SYNDROME, OKAMOTO TYPE | (OMIM:601811) |
Perlman syndrome | (Orphanet:2849) |
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis | (Orphanet:65288) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Phocomelia, Schinzel type | (Orphanet:2879) |
Pitt-Hopkins-like syndrome 2 | (OMIM:614325) |
Pontocerebellar hypoplasia type 3 | (Orphanet:97249) |
Postaxial acrofacial dysostosis | (Orphanet:246) |
Postaxial polydactyly - dental and vertebral anomalies | (Orphanet:2916) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Pterygium colli - intellectual deficit - digital anomalies | (Orphanet:2988) |
Pyruvate dehydrogenase E1-alpha deficiency | (Orphanet:79243) |
ROBERTS SYNDROME | (OMIM:268300) |
Recombinant 8 syndrome | (Orphanet:96167) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Richieri Costa-Pereira syndrome | (Orphanet:3102) |
Roberts syndrome | (Orphanet:3103) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
SCARF syndrome | (Orphanet:3134) |
SECKEL SYNDROME 4 | (OMIM:613676) |
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS | (OMIM:609654) |
SIMOSA CRANIOFACIAL SYNDROME | (OMIM:182150) |
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION | (OMIM:607944) |
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE | (OMIM:613320) |
SRD5A3-CDG | (Orphanet:324737) |
STEVENSON-CAREY SYNDROME | (OMIM:611961) |
Saethre-Chotzen syndrome | (Orphanet:794) |
Sakati-Nyhan syndrome | (Orphanet:3128) |
Sanfilippo syndrome type D | (Orphanet:79272) |
Sanjad-Sakati syndrome | (Orphanet:2323) |
Scalp-ear-nipple syndrome | (Orphanet:2036) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Seckel syndrome | (Orphanet:808) |
Short rib-polydactyly syndrome, Beemer-Langer type | (Orphanet:93268) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Sialuria | (Orphanet:3166) |
Simpson-Golabi-Behmel syndrome type 2 | (Orphanet:79022) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Spondylo-ocular syndrome | (Orphanet:85194) |
Spondyloepimetaphyseal dysplasia, Bieganski type | (Orphanet:168448) |
Spondyloepimetaphyseal dysplasia, aggrecan type | (Orphanet:171866) |
Stüve-Wiedemann syndrome | (Orphanet:3206) |
Subaortic stenosis - short stature | (Orphanet:3191) |
Syndromic diarrhea | (Orphanet:84064) |
Syndromic multisystem autoimmune disease due to Itch deficiency | (Orphanet:228426) |
TARP syndrome | (Orphanet:2886) |
TMCO1 defect syndrome | (Orphanet:228407) |
TMEM165-CDG | (Orphanet:314667) |
TRICHOHEPATOENTERIC SYNDROME 1 | (OMIM:222470) |
TRISOMY 18-LIKE SYNDROME | (OMIM:601161) |
Temtamy syndrome | (Orphanet:1777) |
Terminal osseous dysplasia - pigmentary defects | (Orphanet:88630) |
Tetraamelia - multiple malformations | (Orphanet:3301) |
Timothy syndrome | (Orphanet:65283) |
Transaldolase deficiency | (Orphanet:101028) |
Trigonocephaly - short stature - developmental delay | (Orphanet:3369) |
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME | (OMIM:300280) |
Ulbright-Hodes syndrome | (Orphanet:3404) |
Vici syndrome | (Orphanet:1493) |
WIDOW'S PEAK SYNDROME | (OMIM:314570) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
Wiedemann-Steiner syndrome | (Orphanet:319182) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type | (Orphanet:163966) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked lethal multiple pterygium syndrome | (Orphanet:79447) |
X-linked lissencephaly with abnormal genitalia | (Orphanet:452) |
X-linked mandibulofacial dysostosis | (Orphanet:1131) |
XIA-GIBBS SYNDROME | (OMIM:615829) |
Yunis-Varon syndrome | (Orphanet:3472) |
Zellweger-like syndrome without peroxisomal anomalies | (Orphanet:50812) |
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 | (OMIM:208085) |
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME | (OMIM:601321) |