Low-set ears

Symptom Information:

Symptom ID: HPO:0000369
Synonyms:
Low set ears [HPO:0000369]
Lowset ears [HPO:0000369]
Melotia [HPO:0000369]
Low set ear [Orphanet:13040]
Low set ears (disorder) [Orphanet:13040]
Low set ears [Orphanet:13040]
Low set ears [OMIM:Low set ears]
Low-set ears [OMIM:Low-set ears]
Low set ears/posteriorly rotated ears [Orphanet:13040]
Low set ears [MedDRA:10024929]
Low-set ear [OMIM:Low-set ear]
Low-set ears (1 patient) [OMIM:Low-set ears (1 patient)]
Low-set ears (28%) [OMIM:Low-set ears (28%)]
Low-set ears (3 patients) [OMIM:Low-set ears (3 patients)]
Low-set ears (45%) [OMIM:Low-set ears (45%)]
Low-set ears (in 2/4 patients) [OMIM:Low-set ears (in 2/4 patients)]
Low-set ears (in one family) [OMIM:Low-set ears (in one family)]
Low-set ears (in some patients) [OMIM:Low-set ears (in some patients)]
Low-set ears (severe form) [OMIM:Low-set ears (severe form)]
Quality:
Cross references:
HPO:0000368 "Low-set, posteriorly rotated ears" [Orphanet:13040]
Orphanet:13040 "Low set ears/posteriorly rotated ears" [Orphanet:13040]
OMIM: "Low set ears" [OMIM:Low set ears]
OMIM: "Low-set ears" [OMIM:Low-set ears]
OMIM: "Low-set ear" [OMIM:Low-set ear]
OMIM: "Low-set ears (1 patient)" [OMIM:Low-set ears (1 patient)]
OMIM: "Low-set ears (28%)" [OMIM:Low-set ears (28%)]
OMIM: "Low-set ears (3 patients)" [OMIM:Low-set ears (3 patients)]
OMIM: "Low-set ears (45%)" [OMIM:Low-set ears (45%)]
OMIM: "Low-set ears (in 2/4 patients)" [OMIM:Low-set ears (in 2/4 patients)]
OMIM: "Low-set ears (in one family)" [OMIM:Low-set ears (in one family)]
OMIM: "Low-set ears (in some patients)" [OMIM:Low-set ears (in some patients)]
OMIM: "Low-set ears (severe form)" [OMIM:Low-set ears (severe form)]
UMLS:C0239234 "Low set ears" [Orphanet:13040]
Is a (Direct Parents):
Orphanet Posteriorly rotated ears
MedDRA External ear disorders congenital
Orphanet Abnormality of the outer ear
HPO         Abnormal location of ears
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)
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)