Micrognathia
Symptom Information:
Symptom ID: | HPO:0000347 | ||||||||||||||||||||||||||||||||||||||
Synonyms: |
|
||||||||||||||||||||||||||||||||||||||
Quality: | |||||||||||||||||||||||||||||||||||||||
Cross references: |
|
||||||||||||||||||||||||||||||||||||||
Is a (Direct Parents): |
|
||||||||||||||||||||||||||||||||||||||
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 skull(HPO:0000929) Aplasia/Hypoplasia involving bones of the skull(HPO:0009116) Aplasia/Hypoplasia of the mandible(HPO:0009118) Micrognathia(HPO:0000347) Abnormality of facial skeleton(HPO:0011821) Abnormality of the mandible(HPO:0000277) Aplasia/Hypoplasia of the mandible(HPO:0009118) Micrognathia(HPO:0000347) Abnormality of the skeletal system(HPO:0000924) Abnormality of skeletal morphology(HPO:0011842) Abnormal axial skeleton morphology(HPO:0009121) Aplasia/hypoplasia affecting bones of the axial skeleton(HPO:0009122) Aplasia/Hypoplasia involving bones of the skull(HPO:0009116) Aplasia/Hypoplasia of the mandible(HPO:0009118) Micrognathia(HPO:0000347) Abnormality of the skull(HPO:0000929) Aplasia/Hypoplasia involving bones of the skull(HPO:0009116) Aplasia/Hypoplasia of the mandible(HPO:0009118) Micrognathia(HPO:0000347) Abnormality of facial skeleton(HPO:0011821) Abnormality of the mandible(HPO:0000277) Aplasia/Hypoplasia of the mandible(HPO:0009118) Micrognathia(HPO:0000347) Aplasia/hypoplasia involving the skeleton(HPO:0009115) Aplasia/hypoplasia affecting bones of the axial skeleton(HPO:0009122) Aplasia/Hypoplasia involving bones of the skull(HPO:0009116) Aplasia/Hypoplasia of the mandible(HPO:0009118) Micrognathia(HPO:0000347) MedDRA: Musculoskeletal and connective tissue disorders(MedDRA:10028395) Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396) Musculoskeletal and connective tissue disorders of face, neck and jaw congenital(MedDRA:10028380) Micrognathia(HPO:0000347) |
||||||||||||||||||||||||||||||||||||||
Database Frequency: | 426 / 7739 | ||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
14q11.2 microdeletion syndrome | (Orphanet:261120) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
17p11.2 microduplication syndrome | (Orphanet:1713) |
17q12 microdeletion syndrome | (Orphanet:261265) |
17q12 microduplication syndrome | (Orphanet:261272) |
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) |
46,XX disorder of sex development - skeletal anomalies | (Orphanet:2975) |
8q21.11 microdeletion syndrome | (Orphanet:284160) |
ACHARD SYNDROME | (OMIM:100700) |
ADAMS-OLIVER SYNDROME 2 | (OMIM:614219) |
ALG1-CDG | (Orphanet:79327) |
ARTHROGRYPOSIS, DISTAL, TYPE 2E | (OMIM:121070) |
ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,AND FACIAL ANOMALIES | (OMIM:208080) |
ASPARAGINE SYNTHETASE DEFICIENCY | (OMIM:615574) |
ASYMMETRIC SHORT STATURE SYNDROME | (OMIM:108450) |
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 | (OMIM:170995) |
AURICULOCONDYLAR SYNDROME 1 | (OMIM:602483) |
AURICULOCONDYLAR SYNDROME 2 | (OMIM:614669) |
AURICULOCONDYLAR SYNDROME 3 | (OMIM:615706) |
Acro-osteolysis-keloid-like lesions-premature aging syndrome | (Orphanet:363665) |
Acro-oto-ocular syndrome | (Orphanet:2980) |
Acro-renal-mandibular syndrome | (Orphanet:958) |
Acrocraniofacial dysostosis | (Orphanet:949) |
Acrofacial dysostosis, Rodriguez type | (Orphanet:1788) |
Agnathia - holoprosencephaly - situs inversus | (Orphanet:990) |
Amish lethal microcephaly | (Orphanet:99742) |
Arterial tortuosity syndrome | (Orphanet:3342) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Arthrogryposis multiplex congenita | (Orphanet:1037) |
Arthrogryposis with oculomotor limitation and electroretinal anomalies | (Orphanet:1154) |
Atelosteogenesis type I | (Orphanet:1190) |
Atelosteogenesis type II | (Orphanet:56304) |
Atelosteogenesis type III | (Orphanet:56305) |
Atrioventricular defect - blepharophimosis -radial defects | (Orphanet:1352) |
Auriculocondylar syndrome | (Orphanet:137888) |
Autosomal dominant Opitz G/BBB syndrome | (Orphanet:306588) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant nonsyndromic intellectual deficit | (Orphanet:178469) |
Autosomal recessive Emery-Dreifuss muscular dystrophy | (Orphanet:98855) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
Autosomal recessive omodysplasia | (Orphanet:93329) |
Autosomal recessive spastic paraplegia type 23 | (Orphanet:101003) |
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY | (OMIM:210550) |
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS | (OMIM:211200) |
BRACHYMESOMELIA-RENAL SYNDROME | (OMIM:113470) |
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA | (OMIM:609945) |
Baller-Gerold syndrome | (Orphanet:1225) |
Bangstad syndrome | (Orphanet:1227) |
Barber-Say syndrome | (Orphanet:1231) |
Bartsocas-Papas syndrome | (Orphanet:1234) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Blackfan-Diamond anemia | (Orphanet:124) |
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency | (Orphanet:329255) |
Blepharophimosis-intellectual deficit syndrome, MKB type | (Orphanet:293707) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Bloom syndrome | (Orphanet:125) |
Bohring-Opitz syndrome | (Orphanet:97297) |
Bowen-Conradi syndrome | (Orphanet:1270) |
Branchio-oculo-facial syndrome | (Orphanet:1297) |
C syndrome | (Orphanet:1308) |
CAMPOMELIC DYSPLASIA | (OMIM:114290) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
CATEL-MANZKE SYNDROME | (OMIM:616145) |
CEREBROOCULOFACIOSKELETAL SYNDROME 1 | (OMIM:214150) |
CEREBROOCULOFACIOSKELETAL SYNDROME 2 | (OMIM:610756) |
CEREBROOCULOFACIOSKELETAL SYNDROME 4 | (OMIM:610758) |
CHARGE syndrome | (Orphanet:138) |
CHILD syndrome | (Orphanet:139) |
CHROMOSOME 16q22 DELETION SYNDROME | (OMIM:614541) |
CHROMOSOME 5q12 DELETION SYNDROME | (OMIM:615668) |
CK syndrome | (Orphanet:251383) |
CLEIDOCRANIAL DYSPLASIA | (OMIM:119600) |
COFS syndrome | (Orphanet:1466) |
COLD-INDUCED SWEATING SYNDROME 1 | (OMIM:272430) |
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY | (OMIM:616266) |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy | (OMIM:300934) |
CORNELIA DE LANGE SYNDROME 1 | (OMIM:122470) |
CORNELIA DE LANGE SYNDROME 2 | (OMIM:300590) |
CORNELIA DE LANGE SYNDROME 5 | (OMIM:300882) |
COWDEN SYNDROME 5 | (OMIM:615108) |
COWDEN SYNDROME 6 | (OMIM:615109) |
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 2 | (Orphanet:1326) |
Cardiocranial syndrome, Pfeiffer type | (Orphanet:2872) |
Cardiodysrhythmic potassium-sensitive periodic paralysis | (Orphanet:37553) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carey-Fineman-Ziter syndrome | (Orphanet:1358) |
Carpenter syndrome | (Orphanet:65759) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Cat-eye syndrome | (Orphanet:195) |
Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
Cataract-congenital heart disease-neural tube defect syndrome | (Orphanet:314993) |
Catel-Manzke syndrome | (Orphanet:1388) |
Cenani-Lenz syndrome | (Orphanet:3258) |
Cerebro-costo-mandibular syndrome | (Orphanet:1393) |
Cerebro-facio-articular syndrome | (Orphanet:314679) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Choanal atresia - deafness - cardiac defects - dysmorphism | (Orphanet:1200) |
Chondrodysplasia with joint dislocations, gPAPP type | (Orphanet:280586) |
Chondrodysplasia, Blomstrand type | (Orphanet:50945) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Cleft palate | (Orphanet:2014) |
Cleft palate - large ears - small head | (Orphanet:2013) |
Cleidocranial dysplasia | (Orphanet:1452) |
Cohen syndrome | (Orphanet:193) |
Cold-induced sweating syndrome | (Orphanet:157820) |
Cole-Carpenter syndrome | (Orphanet:2050) |
Congenital contractural arachnodactyly | (Orphanet:115) |
Congenital muscular dystrophy with intellectual disability and severe epilepsy | (Orphanet:329178) |
Cornelia de Lange syndrome | (Orphanet:199) |
Costello syndrome | (Orphanet:3071) |
Cowden syndrome | (Orphanet:201) |
Coxo-podo-patellar syndrome | (Orphanet:1509) |
Cranioectodermal dysplasia 3 | (OMIM:614099) |
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | (Orphanet:221145) |
Cystic fibrosis - gastritis - megaloblastic anemia | (Orphanet:2575) |
D-2-@HYDROXYGLUTARIC ACIDURIA 1 | (OMIM:600721) |
D-2-hydroxyglutaric aciduria | (Orphanet:79315) |
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA | (OMIM:221950) |
DIAMOND-BLACKFAN ANEMIA 1 | (OMIM:105650) |
DIAMOND-BLACKFAN ANEMIA 10 | (OMIM:613309) |
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS | (OMIM:300946) |
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS | (OMIM:606164) |
DIAMOND-BLACKFAN ANEMIA 6 | (OMIM:612561) |
DIGEORGE SYNDROME | (OMIM:188400) |
DPAGT1-CDG | (Orphanet:86309) |
DPM1-CDG | (Orphanet:79322) |
Deafness - intellectual deficit, Martin-Probst type | (Orphanet:85321) |
Deafness with labyrinthine aplasia, microtia, and microdontia | (Orphanet:90024) |
Desmosterolosis | (Orphanet:35107) |
Diaphanospondylodysostosis | (Orphanet:66637) |
Distal arthrogryposis type 5D | (Orphanet:329457) |
Distal limb deficiencies - micrognathia syndrome | (Orphanet:1307) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 15q | (Orphanet:1596) |
Distal monosomy 1q | (Orphanet:36367) |
Distal monosomy 3p | (Orphanet:1620) |
Dubowitz syndrome | (Orphanet:235) |
Dysosteosclerosis | (Orphanet:1782) |
Dyssegmental dysplasia, Rolland-Desbuquois type | (Orphanet:156731) |
Dyssegmental dysplasia, Silverman-Handmaker type | (Orphanet:1865) |
ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET | (OMIM:129540) |
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES | (OMIM:609944) |
ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA | (OMIM:601348) |
EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED | (OMIM:130090) |
Ear-patella-short stature syndrome | (Orphanet:2554) |
Ehlers-Danlos syndrome, dermatosparaxis type | (Orphanet:1901) |
Emanuel syndrome | (Orphanet:96170) |
Endocrine-cerebro-osteodysplasia syndrome | (Orphanet:199332) |
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 | (OMIM:614744) |
FACIOCARDIOMELIC SYNDROME | (OMIM:612731) |
FACIOTHORACOGENITAL SYNDROME | (OMIM:227320) |
FANCONI ANEMIA, COMPLEMENTATION GROUP P | (OMIM:613951) |
FEINGOLD SYNDROME 1 | (OMIM:164280) |
FETAL AKINESIA DEFORMATION SEQUENCE | (OMIM:208150) |
FGFR2-related bent bone dysplasia | (Orphanet:313855) |
FIBROCHONDROGENESIS 2 | (OMIM:614524) |
FRONTOOCULAR SYNDROME | (OMIM:605321) |
Faciocardiorenal syndrome | (Orphanet:1973) |
Feingold syndrome | (Orphanet:1305) |
Femoral-facial syndrome | (Orphanet:1988) |
Fetal Gaucher disease | (Orphanet:85212) |
Fetal akinesia deformation sequence | (Orphanet:994) |
Fibulo-ulnar hypoplasia - renal anomalies | (Orphanet:2256) |
Fowler syndrome | (Orphanet:221126) |
Frank-Ter Haar syndrome | (Orphanet:137834) |
GAPO syndrome | (Orphanet:2067) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Genito-palato-cardiac syndrome | (Orphanet:2075) |
Genitopatellar syndrome | (Orphanet:85201) |
Goldenhar syndrome | (Orphanet:374) |
Gordon syndrome | (Orphanet:376) |
Grant syndrome | (Orphanet:2097) |
Greenberg dysplasia | (Orphanet:1426) |
Growth deficiency - brachydactyly - dysmorphism | (Orphanet:2055) |
Growth delay - hydrocephaly - lung hypoplasia | (Orphanet:3035) |
Growth delay due to insulin-like growth factor type 1 deficiency | (Orphanet:73272) |
HAJDU-CHENEY SYNDROME | (OMIM:102500) |
HYDROLETHALUS SYNDROME 1 | (OMIM:236680) |
HYDROLETHALUS SYNDROME 2 | (OMIM:614120) |
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED | (OMIM:241800) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Hennekam-Beemer syndrome | (Orphanet:2135) |
Holmes-Gang syndrome | (Orphanet:93970) |
Hurler syndrome | (Orphanet:93473) |
Hurler-Scheie syndrome | (Orphanet:93476) |
Hutchinson-Gilford progeria syndrome | (Orphanet:740) |
Hydrolethalus | (Orphanet:2189) |
Hypertelorism-microtia-facial clefting syndrome | (Orphanet:2213) |
Hypoglossia - hypodactyly | (Orphanet:989) |
Hypomandibular faciocranial dysostosis | (Orphanet:1790) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
ICF syndrome | (Orphanet:2268) |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1 | (OMIM:242860) |
Infantile neuroaxonal dystrophy | (Orphanet:35069) |
Intellectual deficit, X-linked - craniofacioskeletal syndrome | (Orphanet:163979) |
Intellectual deficit, X-linked - psychosis - macroorchidism | (Orphanet:3077) |
Intellectual disability-developmental delay-contractures syndrome | (Orphanet:3454) |
Isolated Pierre Robin syndrome | (Orphanet:718) |
Isolated congenital hypoglossia/aglossia | (Orphanet:141152) |
Isotretinoin-like syndrome | (Orphanet:2306) |
Jacobsen syndrome | (Orphanet:2308) |
Joubert syndrome 18 | (OMIM:614815) |
Joubert syndrome with orofaciodigital defect | (Orphanet:2754) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
KAGAMI-OGATA SYNDROME | (OMIM:608149) |
KEPPEN-LUBINSKY SYNDROME | (OMIM:614098) |
Kyphomelic dysplasia | (Orphanet:1801) |
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 | (OMIM:616286) |
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA | (OMIM:616342) |
LOEYS-DIETZ SYNDROME 1 | (OMIM:609192) |
LOEYS-DIETZ SYNDROME 2 | (OMIM:610168) |
LUJAN-FRYNS SYNDROME | (OMIM:309520) |
Langer mesomelic dysplasia | (Orphanet:2632) |
Larsen-like syndrome, B3GAT3 type | (Orphanet:284139) |
Lateral meningocele syndrome | (Orphanet:2789) |
Lathosterolosis | (Orphanet:46059) |
Legius syndrome | (Orphanet:137605) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Lethal congenital contracture syndrome type 1 | (Orphanet:1486) |
Lethal congenital contracture syndrome type 2 | (Orphanet:137776) |
Lethal faciocardiomelic dysplasia | (Orphanet:1972) |
Lethal multiple pterygium syndrome | (Orphanet:33108) |
Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
Lethal restrictive dermopathy | (Orphanet:1662) |
Lhermitte-Duclos disease | (Orphanet:65285) |
Lipodystrophy due to peptidic growth factors deficiency | (Orphanet:1979) |
Loeys-Dietz syndrome type 1 | (Orphanet:60030) |
MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT | (OMIM:608257) |
MEIER-GORLIN SYNDROME 1 | (OMIM:224690) |
MEIER-GORLIN SYNDROME 2 | (OMIM:613800) |
MEIER-GORLIN SYNDROME 3 | (OMIM:613803) |
MEIER-GORLIN SYNDROME 4 | (OMIM:613804) |
MEIER-GORLIN SYNDROME 5 | (OMIM:613805) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 | (OMIM:615761) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35 | (OMIM:615162) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | (OMIM:210710) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III | (OMIM:210730) |
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:616051) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 | (OMIM:616171) |
MICROPHTHALMIA, SYNDROMIC 12 | (OMIM:615524) |
MICROPHTHALMIA, SYNDROMIC 9 | (OMIM:601186) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 | (OMIM:257300) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
MURCS association | (Orphanet:2578) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 | (OMIM:253280) |
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL | (OMIM:608930) |
MYOPATHY, CENTRONUCLEAR, 5 | (OMIM:615959) |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED | (OMIM:300580) |
Mandibular hypoplasia-deafness-progeroid syndrome | (Orphanet:363649) |
Mandibuloacral dysplasia | (Orphanet:2457) |
Mandibuloacral dysplasia with type A lipodystrophy | (Orphanet:90153) |
Mandibuloacral dysplasia with type B lipodystrophy | (Orphanet:90154) |
Mandibulofacial dysostosis - macroblepharon - macrostomia | (Orphanet:357158) |
Mandibulofacial dysostosis-microcephaly syndrome | (Orphanet:79113) |
Marden-Walker syndrome | (Orphanet:2461) |
Marfan syndrome type 1 | (Orphanet:284963) |
Marshall syndrome | (Orphanet:560) |
Marshall-Smith syndrome | (Orphanet:561) |
Matthew-Wood syndrome | (Orphanet:2470) |
McDonough syndrome | (Orphanet:2471) |
Meckel syndrome | (Orphanet:564) |
Meckel syndrome, type 1 | (OMIM:249000) |
Meckel syndrome, type 12 | (OMIM:616258) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Menkes disease | (Orphanet:565) |
Mesomelic dwarfism - cleft palate - camptodactyly | (Orphanet:2631) |
Metaphyseal chondrodysplasia, Jansen type | (Orphanet:33067) |
Methylmalonic acidemia with homocystinuria, type cblJ | (Orphanet:369955) |
Micro syndrome | (Orphanet:2510) |
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 | (Orphanet:2636) |
Microcephalic primordial dwarfism due to ZNF335 deficiency | (Orphanet:329228) |
Microcephalic primordial dwarfism, Toriello type | (Orphanet:2643) |
Microcephaly - deafness - intellectual deficit | (Orphanet:2533) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Miller-Dieker syndrome | (Orphanet:531) |
Mitochondrial myopathy and sideroblastic anemia | (Orphanet:2598) |
Moebius syndrome | (Orphanet:570) |
Monosomy 18p | (Orphanet:1598) |
Monosomy 9p | (Orphanet:261112) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Mulibrey nanism | (Orphanet:2576) |
Mullerian derivatives - lymphangiectasia - polydactyly | (Orphanet:1655) |
Multicentric carpo-tarsal osteolysis with or without nephropathy | (Orphanet:2774) |
Multiple congenital anomalies - hypotonia - seizures syndrome | (Orphanet:280633) |
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | (Orphanet:300496) |
Multiple epiphyseal dysplasia, Lowry type | (Orphanet:166016) |
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 | (OMIM:600462) |
NEMALINE MYOPATHY 9 | (OMIM:615731) |
NEU-LAXOVA SYNDROME 2 | (OMIM:616038) |
NOONAN SYNDROME 1 | (OMIM:163950) |
Nager syndrome | (Orphanet:245) |
Native American myopathy | (Orphanet:168572) |
Neonatal hemochromatosis | (Orphanet:446) |
Nestor-Guillermo progeria syndrome | (Orphanet:280576) |
Neu-Laxova syndrome | (Orphanet:2671) |
Nijmegen breakage syndrome | (Orphanet:647) |
Noonan syndrome | (Orphanet:648) |
Noonan syndrome-like disorder with loose anagen hair | (Orphanet:2701) |
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | (OMIM:257850) |
OPITZ-KAVEGGIA SYNDROME | (OMIM:305450) |
OROFACIODIGITAL SYNDROME VI | (OMIM:277170) |
OSTEOGENESIS IMPERFECTA, TYPE III | (OMIM:259420) |
OSTEOGENESIS IMPERFECTA, TYPE X | (OMIM:613848) |
OSTEOGENESIS IMPERFECTA, TYPE XII | (OMIM:613849) |
Oculocerebrofacial syndrome, Kaufman type | (Orphanet:2707) |
Opitz G/BBB syndrome | (Orphanet:2745) |
Orofaciodigital syndrome type 2 | (Orphanet:2751) |
Orofaciodigital syndrome type 4 | (Orphanet:2753) |
Osteodysplasty, Melnick-Needles type | (Orphanet:2484) |
Osteogenesis imperfecta type 3 | (Orphanet:216812) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
Otopalatodigital syndrome | (Orphanet:669) |
Otopalatodigital syndrome type 2 | (Orphanet:90652) |
Otospondylomegaepiphyseal dysplasia | (Orphanet:1427) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) | (OMIM:614866) |
PGM1-CDG | (Orphanet:319646) |
PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES | (OMIM:602196) |
Paris-Trousseau thrombocytopenia | (Orphanet:851) |
Patterson-Stevenson-Fontaine syndrome | (Orphanet:2439) |
Pelviscapular dysplasia | (Orphanet:93333) |
Perlman syndrome | (Orphanet:2849) |
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis | (Orphanet:65288) |
Peters-plus syndrome | (Orphanet:709) |
Pierre Robin syndrome - faciodigital anomaly | (Orphanet:2888) |
Pontocerebellar hypoplasia, type 9 | (OMIM:615809) |
Postaxial acrofacial dysostosis | (Orphanet:246) |
Proteus-like syndrome | (Orphanet:2969) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Pycnodysostosis | (Orphanet:763) |
RENAL AND MULLERIAN DUCT HYPOPLASIA | (OMIM:266810) |
RFT1-CDG | (Orphanet:244310) |
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL | (OMIM:614498) |
ROBERTS SYNDROME | (OMIM:268300) |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 | (OMIM:616331) |
RUIJS-AALFS SYNDROME | (OMIM:616200) |
Recombinant 8 syndrome | (Orphanet:96167) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Renpenning syndrome | (Orphanet:3242) |
Rhizomelic chondrodysplasia punctata | (Orphanet:177) |
Rhizomelic chondrodysplasia punctata type 1 | (Orphanet:309789) |
Rhizomelic chondrodysplasia punctata type 2 | (Orphanet:309796) |
Rhizomelic syndrome, Urbach type | (Orphanet:3098) |
Richieri Costa-Pereira syndrome | (Orphanet:3102) |
Roberts syndrome | (Orphanet:3103) |
Robin sequence - oligodactyly | (Orphanet:3104) |
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) |
SC PHOCOMELIA SYNDROME | (OMIM:269000) |
SECKEL SYNDROME 1 | (OMIM:210600) |
SECKEL SYNDROME 2 | (OMIM:606744) |
SECKEL SYNDROME 8 | (OMIM:615807) |
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES | (OMIM:602471) |
SHORT STATURE-OBESITY SYNDROME | (OMIM:269870) |
SHORT syndrome | (Orphanet:3163) |
SILVER-RUSSELL SYNDROME | (OMIM:180860) |
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL | (OMIM:602613) |
SPONDYLOSPINAL THORACIC DYSOSTOSIS | (OMIM:601809) |
STERNUM, PREMATURE OBLITERATION OF SUTURES OF | (OMIM:184800) |
Sanjad-Sakati syndrome | (Orphanet:2323) |
Say-Barber-Miller syndrome | (Orphanet:3132) |
Schilbach-Rott syndrome | (Orphanet:2353) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Seckel syndrome | (Orphanet:808) |
Sheldon-Hall syndrome | (Orphanet:1147) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Silver-Russell syndrome | (Orphanet:813) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Splenogonadal fusion - limb defects - micrognathia | (Orphanet:2063) |
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification | (Orphanet:93358) |
Spondyloepimetaphyseal dysplasia with joint laxity | (Orphanet:93359) |
Stickler syndrome type 2 | (Orphanet:90654) |
Stüve-Wiedemann syndrome | (Orphanet:3206) |
Syndromic X-linked intellectual deficit due to JARID1C mutation | (Orphanet:85279) |
TARP syndrome | (Orphanet:2886) |
TEMPLE SYNDROME | (OMIM:616222) |
TREACHER COLLINS SYNDROME 1 | (OMIM:154500) |
TREACHER COLLINS SYNDROME 2 | (OMIM:613717) |
TREACHER COLLINS SYNDROME 3 | (OMIM:248390) |
TRICHORHINOPHALANGEAL SYNDROME, TYPE I | (OMIM:190350) |
TRISOMY 18-LIKE SYNDROME | (OMIM:601161) |
Temtamy syndrome | (Orphanet:1777) |
Tetraamelia - multiple malformations | (Orphanet:3301) |
Tetrasomy 12p | (Orphanet:884) |
Thrombocytopenia - absent radius | (Orphanet:3320) |
Torg-Winchester syndrome | (Orphanet:3460) |
Treacher-Collins syndrome | (Orphanet:861) |
Trichorhinophalangeal syndrome type 1 and 3 | (Orphanet:77258) |
Trigonocephaly - bifid nose - acral anomalies | (Orphanet:3368) |
Trismus - pseudocamptodactyly | (Orphanet:3377) |
Ulbright-Hodes syndrome | (Orphanet:3404) |
VAN BOGAERT-HOZAY SYNDROME | (OMIM:277150) |
VAN MALDERGEM SYNDROME 1 | (OMIM:601390) |
VAN MALDERGEM SYNDROME 2 | (OMIM:615546) |
Vici syndrome | (Orphanet:1493) |
WARBURG MICRO SYNDROME 1 | (OMIM:600118) |
WARBURG MICRO SYNDROME 3 | (OMIM:614222) |
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME | (OMIM:602418) |
WHISTLING FACE SYNDROME, RECESSIVE FORM | (OMIM:277720) |
WT limb-blood syndrome | (Orphanet:3466) |
Weissenbacher- Zweymuller syndrome | (Orphanet:3450) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
X-linked distal arthrogryposis multiplex congenita | (Orphanet:1145) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked lethal multiple pterygium syndrome | (Orphanet:79447) |
X-linked lissencephaly with abnormal genitalia | (Orphanet:452) |
XIA-GIBBS SYNDROME | (OMIM:615829) |
Yunis-Varon syndrome | (Orphanet:3472) |
Zellweger syndrome | (Orphanet:912) |
Zellweger-like syndrome without peroxisomal anomalies | (Orphanet:50812) |
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 | (OMIM:208085) |