Intrauterine growth retardation

Symptom Information:

Symptom ID: HPO:0001511
Synonyms:
In utero growth retardation [HPO:0001511]
Intrauterine growth failure [HPO:0001511]
Intrauterine growth restriction [HPO:0001511]
Intrauterine growth retardation (IUGR) [HPO:0001511]
Intrauterine growth retardation, IUGR [HPO:0001511]
Intrauterine retardation [HPO:0001511]
Prenatal growth deficiency [HPO:0001511]
Prenatal growth failure [HPO:0001511]
Prenatal growth retardation [HPO:0001511]
Prenatal onset growth retardation [HPO:0001511]
Prenatal-onset growth retardation [HPO:0001511]
Small for gestational age infant [HPO:0001511]
Intrauterine growth restriction [Orphanet:55100]
Fetal growth retardation (disorder) [Orphanet:55100]
Fetal Growth Retardation [Orphanet:55100]
Intrauterine growth failure [OMIM:Intrauterine growth failure]
Intrauterine growth restriction [OMIM:Intrauterine growth restriction]
Intrauterine growth retardation [OMIM:Intrauterine growth retardation]
Intrauterine growth retardation (IUGR) [OMIM:Intrauterine growth retardation (IUGR)]
Intrauterine retardation [OMIM:Intrauterine retardation]
Prenatal growth deficiency [OMIM:Prenatal growth deficiency]
Prenatal growth failure [OMIM:Prenatal growth failure]
Prenatal growth retardation [OMIM:Prenatal growth retardation]
Prenatal onset growth retardation [OMIM:Prenatal onset growth retardation]
Prenatal-onset growth retardation [OMIM:Prenatal-onset growth retardation]
Small for gestational age infant [OMIM:Small for gestational age infant]
Intrauterine growth retardation [Orphanet:55100]
Foetal growth restriction [Orphanet:55100]
Microsomia [Orphanet:55100]
Foetal growth restriction [MedDRA:10070531]
Fetal growth retardation, unspecified [MedDRA:10070531]
Fetal growth retardation, unspecified {weight} [MedDRA:10070531]
Fetal growth retardation, unspecified, 1,000-1,249 grams [MedDRA:10070531]
Fetal growth retardation, unspecified, 1,250-1,499 grams [MedDRA:10070531]
Fetal growth retardation, unspecified, 1,500-1,749 grams [MedDRA:10070531]
Fetal growth retardation, unspecified, 1,750-1,999 grams [MedDRA:10070531]
Fetal growth retardation, unspecified, 2,000-2,499 grams [MedDRA:10070531]
Fetal growth retardation, unspecified, 2,500+ grams [MedDRA:10070531]
Fetal growth retardation, unspecified, 500-749 grams [MedDRA:10070531]
Fetal growth retardation, unspecified, 750-999 grams [MedDRA:10070531]
Fetal growth retardation, unspecified, less than 500 grams [MedDRA:10070531]
Fetal maturation impaired [MedDRA:10070531]
Foetal growth retardation [MedDRA:10070531]
Foetal maturation impaired [MedDRA:10070531]
Growth interuterine retard [MedDRA:10070531]
Interuterine growth retard [MedDRA:10070531]
Intrauterine growth retardation [MedDRA:10070531]
Poor fetal growth affecting management of mother [MedDRA:10070531]
Poor fetal growth, affecting management of mother, antepartum condition or complication [MedDRA:10070531]
Poor fetal growth, affecting management of mother, delivered [MedDRA:10070531]
Poor fetal growth, affecting management of mother, unspecified as to episode of care [MedDRA:10070531]
Slow fetal growth and fetal malnutrition [MedDRA:10070531]
Growth intrauterine retard [MedDRA:10070531]
Intrauterine growth retard [MedDRA:10070531]
Fetal growth retardation [MedDRA:10070531]
Foetal growth retardation, unspecified [MedDRA:10070531]
Foetal growth retardation, unspecified {weight} [MedDRA:10070531]
Foetal growth retardation, unspecified, 1,000-1,249 grams [MedDRA:10070531]
Foetal growth retardation, unspecified, 1,250-1,499 grams [MedDRA:10070531]
Foetal growth retardation, unspecified, 1,500-1,749 grams [MedDRA:10070531]
Foetal growth retardation, unspecified, 1,750-1,999 grams [MedDRA:10070531]
Foetal growth retardation, unspecified, 2,000-2,499 grams [MedDRA:10070531]
Foetal growth retardation, unspecified, 2,500+ grams [MedDRA:10070531]
Foetal growth retardation, unspecified, 500-749 grams [MedDRA:10070531]
Foetal growth retardation, unspecified, 750-999 grams [MedDRA:10070531]
Foetal growth retardation, unspecified, less than 500 grams [MedDRA:10070531]
Poor foetal growth affecting management of mother [MedDRA:10070531]
Poor foetal growth, affecting management of mother, delivered [MedDRA:10070531]
Poor foetal growth, affecting management of mother, unspecified as to episode of care [MedDRA:10070531]
Fetal growth restriction [MedDRA:10070531]
Microsomia [MedDRA:10071034]
Intrauterine growth retardation (1 patient) [OMIM:Intrauterine growth retardation (1 patient)]
Intrauterine growth retardation (50%) [OMIM:Intrauterine growth retardation (50%)]
Intrauterine growth retardation (in fetus) [OMIM:Intrauterine growth retardation (in fetus)]
Intrauterine growth retardation (in some patients) [OMIM:Intrauterine growth retardation (in some patients)]
Intrauterine growth retardation (less than tenth percentile) [OMIM:Intrauterine growth retardation (less than tenth percentile)]
Intrauterine growth retardation (male) [OMIM:Intrauterine growth retardation (male)]
Intrauterine growth retardation (rare) [OMIM:Intrauterine growth retardation (rare)]
Intrauterine growth retardation (seen in Hoyeraal-Hreidarsson Syndrome variant, HHS) [OMIM:Intrauterine growth retardation (seen in Hoyeraal-Hreidarsson Syndrome variant, HHS)]
Intrauterine growth retardation, IUGR (rare) [OMIM:Intrauterine growth retardation, IUGR (rare)]
Prenatal growth deficiency (27%) [OMIM:Prenatal growth deficiency (27%)]
Quality:
Cross references:
Orphanet:55100 "Intrauterine growth retardation" [Orphanet:55100]
OMIM: "Intrauterine growth failure" [OMIM:Intrauterine growth failure]
OMIM: "Intrauterine growth restriction" [OMIM:Intrauterine growth restriction]
OMIM: "Intrauterine growth retardation" [OMIM:Intrauterine growth retardation]
OMIM: "Intrauterine growth retardation (IUGR)" [OMIM:Intrauterine growth retardation (IUGR)]
OMIM: "Intrauterine retardation" [OMIM:Intrauterine retardation]
OMIM: "Prenatal growth deficiency" [OMIM:Prenatal growth deficiency]
OMIM: "Prenatal growth failure" [OMIM:Prenatal growth failure]
OMIM: "Prenatal growth retardation" [OMIM:Prenatal growth retardation]
OMIM: "Prenatal onset growth retardation" [OMIM:Prenatal onset growth retardation]
OMIM: "Prenatal-onset growth retardation" [OMIM:Prenatal-onset growth retardation]
OMIM: "Small for gestational age infant" [OMIM:Small for gestational age infant]
OMIM: "Intrauterine growth retardation (1 patient)" [OMIM:Intrauterine growth retardation (1 patient)]
OMIM: "Intrauterine growth retardation (50%)" [OMIM:Intrauterine growth retardation (50%)]
OMIM: "Intrauterine growth retardation (in fetus)" [OMIM:Intrauterine growth retardation (in fetus)]
OMIM: "Intrauterine growth retardation (in some patients)" [OMIM:Intrauterine growth retardation (in some patients)]
OMIM: "Intrauterine growth retardation (less than tenth percentile)" [OMIM:Intrauterine growth retardation (less than tenth percentile)]
OMIM: "Intrauterine growth retardation (male)" [OMIM:Intrauterine growth retardation (male)]
OMIM: "Intrauterine growth retardation (rare)" [OMIM:Intrauterine growth retardation (rare)]
OMIM: "Intrauterine growth retardation (seen in Hoyeraal-Hreidarsson Syndrome variant, HHS)" [OMIM:Intrauterine growth retardation (seen in Hoyeraal-Hreidarsson Syndrome variant, HHS)]
OMIM: "Intrauterine growth retardation, IUGR (rare)" [OMIM:Intrauterine growth retardation, IUGR (rare)]
OMIM: "Prenatal growth deficiency (27%)" [OMIM:Prenatal growth deficiency (27%)]
UMLS:C0015934 "Fetal Growth Retardation" [Orphanet:55100]
Is a (Direct Parents):
MedDRA Foetal growth complications
MedDRA General signs and symptoms NEC
Orphanet Abnormality of prenatal development or birth
HPO         Growth delay
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Growth abnormality(HPO:0001507)
          Growth delay(HPO:0001510)
             Intrauterine growth retardation(HPO:0001511)
MedDRA:
Pregnancy, puerperium and perinatal conditions(MedDRA:10036585)
    Foetal complications(MedDRA:10016849)
       Foetal growth complications(MedDRA:10010163)
          Intrauterine growth retardation(HPO:0001511)
General disorders and administration site conditions(MedDRA:10018065)
    General system disorders NEC(MedDRA:10018073)
       General signs and symptoms NEC(MedDRA:10018072)
          Intrauterine growth retardation(HPO:0001511)
Database Frequency: 358 / 7739
Resource:

All diseases associated with this symptom:

12q14 microdeletion syndrome (Orphanet:94063)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
19p13.12 microdeletion syndrome (Orphanet:254346)
19q13.11 microdeletion syndrome (Orphanet:217346)
1q21.1 microdeletion syndrome (Orphanet:250989)
22q11.2 deletion syndrome (Orphanet:567)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
3-hydroxyisobutyric aciduria (Orphanet:939)
3-phosphoserine phosphatase deficiency (Orphanet:79350)
3C syndrome (Orphanet:7)
3M syndrome (Orphanet:2616)
4q21 microdeletion syndrome (Orphanet:238750)
8p23.1 microdeletion syndrome (Orphanet:251071)
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA (OMIM:613623)
AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
ALG1-CDG (Orphanet:79327)
AREDYLD syndrome (Orphanet:1133)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
Achondroplasia (Orphanet:15)
Acro-cardio-facial syndrome (Orphanet:2008)
Acro-oto-ocular syndrome (Orphanet:2980)
Acro-renal-mandibular syndrome (Orphanet:958)
Acrofacial dysostosis, Catania type (Orphanet:1786)
Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Adenylosuccinate lyase deficiency (Orphanet:46)
Alagille syndrome (Orphanet:52)
Alopecia - contractures - dwarfism - intellectual deficit (Orphanet:1005)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Aortic arch anomaly - peculiar facies - intellectual deficit (Orphanet:1110)
Arthrogryposis multiplex congenita - whistling face (Orphanet:1150)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal dominant spondylocostal dysostosis (Orphanet:1797)
Autosomal recessive Kenny-Caffey syndrome (Orphanet:93324)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
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 multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
BRESEK syndrome (Orphanet:85284)
Baller-Gerold syndrome (Orphanet:1225)
Bangstad syndrome (Orphanet:1227)
Bardet-Biedl syndrome 2 (OMIM:615981)
Bardet-Biedl syndrome 7 (OMIM:615984)
Bartsocas-Papas syndrome (Orphanet:1234)
Bilateral striopallidodentate calcinosis (Orphanet:1980)
Blackfan-Diamond anemia (Orphanet:124)
Bloom syndrome (Orphanet:125)
Bohring-Opitz syndrome (Orphanet:97297)
Bowen-Conradi syndrome (Orphanet:1270)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
Braddock syndrome (Orphanet:52047)
Brain malformation - congenital heart disease - postaxial polydactyly (Orphanet:75389)
Branchio-oculo-facial syndrome (Orphanet:1297)
CATEL-MANZKE SYNDROME (OMIM:616145)
CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
CHARGE syndrome (Orphanet:138)
CHILD syndrome (Orphanet:139)
COCKAYNE SYNDROME A (OMIM:216400)
COCKAYNE SYNDROME B (OMIM:133540)
COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
COFFIN-SIRIS SYNDROME (OMIM:135900)
COFS syndrome (Orphanet:1466)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Camptodactyly - joint contractures - facial skeletal defects (Orphanet:1323)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Camptodactyly syndrome, Guadalajara type 2 (Orphanet:1326)
Cat-eye syndrome (Orphanet:195)
Catel-Manzke syndrome (Orphanet:1388)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Coats plus syndrome (Orphanet:313838)
Cockayne syndrome (Orphanet:191)
Coffin-Siris syndrome (Orphanet:1465)
Cohen syndrome (Orphanet:193)
Cole-Carpenter syndrome (Orphanet:2050)
Combined oxidative phosphorylation defect type 17 (Orphanet:369913)
Combined oxidative phosphorylation deficiency type 23 (ORPHA:444013)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital herpes virus infection (Orphanet:293)
Congenital osteogenesis imperfecta - microcephaly - cataracts (Orphanet:2772)
Congenital rubella syndrome (Orphanet:290)
Congenital toxoplasmosis (Orphanet:858)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency (Orphanet:300284)
Cornelia de Lange syndrome (Orphanet:199)
Crane-Heise syndrome (Orphanet:1512)
Craniomicromelic syndrome (Orphanet:1524)
Craniosynostosis, Herrmann-Opitz type (Orphanet:2145)
Cutis laxa (Orphanet:209)
Cutis marmorata telangiectatica congenita (Orphanet:1556)
DEND syndrome (Orphanet:79134)
DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE (OMIM:223500)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 (OMIM:613990)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5 (OMIM:615190)
De Barsy syndrome (Orphanet:2962)
Desmosterolosis (Orphanet:35107)
Diaphanospondylodysostosis (Orphanet:66637)
Diastrophic dwarfism (Orphanet:628)
Dilated cardiomyopathy with ataxia (Orphanet:66634)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal monosomy 10p (Orphanet:1580)
Distal monosomy 15q (Orphanet:1596)
Distal monosomy 3p (Orphanet:1620)
Distal trisomy 15q (Orphanet:1707)
Distal trisomy 6p (Orphanet:1745)
Dubowitz syndrome (Orphanet:235)
Dyschondrosteosis - nephritis (Orphanet:1765)
Dyskeratosis congenita (Orphanet:1775)
Dysmorphism - multiple structural anomalies (Orphanet:1780)
Dysmorphism - short stature - deafness - disorder of sex development (Orphanet:2282)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 (OMIM:616339)
Ear-patella-short stature syndrome (Orphanet:2554)
Ellis Van Creveld syndrome (Orphanet:289)
Emanuel syndrome (Orphanet:96170)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
Eng-Strom syndrome (Orphanet:1937)
Eye defects - arachnodactyly - cardiopathy (Orphanet:2725)
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS (OMIM:227255)
FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
FETAL AKINESIA DEFORMATION SEQUENCE (OMIM:208150)
FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION ANDPROPORTIONATE SHORT STATURE (OMIM:135950)
Fanconi anemia (Orphanet:84)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Fetal Gaucher disease (Orphanet:85212)
Fetal akinesia deformation sequence (Orphanet:994)
Fetal alcohol syndrome (Orphanet:1915)
Fetal hydantoin syndrome (Orphanet:1912)
Fetal parvovirus syndrome (Orphanet:295)
Fetal trimethadione syndrome (Orphanet:1913)
Fetal varicella syndrome (Orphanet:291)
Filippi syndrome (Orphanet:3255)
Fine-Lubinsky syndrome (Orphanet:1272)
Floating-Harbor syndrome (Orphanet:2044)
Fowler syndrome (Orphanet:221126)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
GRACILE syndrome (Orphanet:53693)
GRANDDAD SYNDROME (OMIM:138920)
Galloway-Mowat syndrome (Orphanet:2065)
Gaucher disease type 2 (Orphanet:77260)
Geleophysic dysplasia (Orphanet:2623)
Genito-palato-cardiac syndrome (Orphanet:2075)
Growth delay - hydrocephaly - lung hypoplasia (Orphanet:3035)
Growth delay due to insulin-like growth factor I resistance (Orphanet:73273)
Growth delay due to insulin-like growth factor type 1 deficiency (Orphanet:73272)
Grubben-de Cock-Borghgraef syndrome (Orphanet:2101)
HETEROTAXY, VISCERAL, 5, AUTOSOMAL (OMIM:270100)
HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Hall-Riggs syndrome (Orphanet:2107)
Harrod syndrome (Orphanet:2115)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Hemolytic anemia due to red cell pyruvate kinase deficiency (Orphanet:766)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Heterotaxia (Orphanet:450)
Holzgreve-Wagner-Rehder syndrome (Orphanet:2167)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Hydrolethalus (Orphanet:2189)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome (Orphanet:293864)
Hypotonia-cerebral atrophy-hyperglycinemia syndrome (Orphanet:363424)
IMAGe syndrome (Orphanet:85173)
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY (OMIM:600546)
Immunodeficiency with natural-killer cell deficiency (Orphanet:75391)
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations (Orphanet:319462)
Intellectual deficit - hypoplastic corpus callosum - preauricular tag (Orphanet:1495)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked, Pai type (Orphanet:85322)
Ito hypomelanosis (Orphanet:435)
Jacobsen syndrome (Orphanet:2308)
Johanson-Blizzard syndrome (Orphanet:2315)
Joubert syndrome 18 (OMIM:614815)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 22 (OMIM:615665)
Juberg-Hayward syndrome (Orphanet:2319)
Kallmann syndrome - heart disease (Orphanet:2326)
Kapur-Toriello syndrome (Orphanet:2328)
Kenny-Caffey syndrome (Orphanet:2333)
Koolen-De Vries syndrome (Orphanet:96169)
LAMBOTTE SYNDROME (OMIM:245552)
Lambert syndrome (Orphanet:1296)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Lathosterolosis (Orphanet:46059)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Leprechaunism (Orphanet:508)
Lethal faciocardiomelic dysplasia (Orphanet:1972)
Lethal multiple pterygium syndrome (Orphanet:33108)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal polymalformative syndrome, Boissel type (Orphanet:210144)
Lethal restrictive dermopathy (Orphanet:1662)
Lipodystrophy - intellectual deficit - deafness (Orphanet:50811)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet:5)
Low birth weight - dwarfism - dysgammaglobulinemia (Orphanet:2621)
Lowry-MacLean syndrome (Orphanet:2409)
MEGDEL syndrome (Orphanet:352328)
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, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM (OMIM:606242)
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)
MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
MITCHELL-RILEY SYNDROME (OMIM:615710)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MOVED TO 614732 (OMIM:300290)
Marden-Walker syndrome (Orphanet:2461)
Maternal hyperphenylalaninemia (Orphanet:2209)
Maternal hyperthermia induced birth defects (Orphanet:2216)
Matthew-Wood syndrome (Orphanet:2470)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 12 (OMIM:616258)
Meckel syndrome, type 2 (OMIM:603194)
Meckel syndrome, type 4 (OMIM:611134)
Menkes disease (Orphanet:565)
Methimazole embryofetopathy (Orphanet:1923)
Micro syndrome (Orphanet:2510)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephalic primordial dwarfism due to ZNF335 deficiency (Orphanet:329228)
Microcephalic primordial dwarfism, Dauber type (Orphanet:319675)
Microcephalic primordial dwarfism, Toriello type (Orphanet:2643)
Microcephaly - cardiac defect - lung malsegmentation (Orphanet:2516)
Microcephaly-cardiomyopathy syndrome (Orphanet:2515)
Miller-Dieker syndrome (Orphanet:531)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (Orphanet:279934)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Monosomy 13q14 (Orphanet:1587)
Monosomy 5p (Orphanet:281)
Morse-Rawnsley-Sargent syndrome (Orphanet:2570)
Mosaic trisomy 9 (Orphanet:99776)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mulibrey nanism (Orphanet:2576)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
Multiple intestinal atresia (Orphanet:2300)
Myhre syndrome (Orphanet:2588)
NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys (Orphanet:79118)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (Orphanet:457185)
Neonatal hemochromatosis (Orphanet:446)
Neu-Laxova syndrome (Orphanet:2671)
Neurofaciodigitorenal syndrome (Orphanet:2673)
Nijmegen breakage syndrome (Orphanet:647)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Noonan syndrome with multiple lentigines (Orphanet:500)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oliver syndrome (Orphanet:2920)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Osteocraniostenosis (Orphanet:2763)
Osteogenesis imperfecta (Orphanet:666)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
PHAVER syndrome (Orphanet:2876)
PREECLAMPSIA/ECLAMPSIA 1 (OMIM:189800)
Pallister-Hall syndrome (Orphanet:672)
Pancreatic agenesis, congenital (OMIM:260370)
Pancreatic hypoplasia - diabetes - congenital heart disease (Orphanet:2255)
Partial pancreatic agenesis (Orphanet:2805)
Paternal 20q13.2q13.3 microdeletion syndrome (Orphanet:261304)
Pearson syndrome (Orphanet:699)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Orphanet:65288)
Peters-plus syndrome (Orphanet:709)
Phocomelia, Schinzel type (Orphanet:2879)
Prader-Willi syndrome (Orphanet:739)
Preeclampsia (Orphanet:275555)
Primordial short stature - microdontia - opalescent and rootless teeth (Orphanet:46658)
Progeria - short stature - pigmented nevi (Orphanet:2959)
Progeroid syndrome, Petty type (Orphanet:2963)
Prominent glabella - microcephaly - hypogenitalism (Orphanet:2083)
Proximal spinal muscular atrophy (Orphanet:70)
Pseudoaminopterin syndrome (Orphanet:221120)
Pyruvate dehydrogenase deficiency (Orphanet:765)
RAPADILINO syndrome (Orphanet:3021)
RUSSELL-SILVER SYNDROME, X-LINKED (OMIM:312780)
Rabson-Mendenhall syndrome (Orphanet:769)
Renal cysts and diabetes syndrome (Orphanet:93111)
Retinopathy - anemia- central nervous system anomalies (Orphanet:3088)
Ring chromosome 10 (Orphanet:1438)
Roberts syndrome (Orphanet:3103)
Robinow-like syndrome (Orphanet:3105)
Roifman syndrome (Orphanet:353298)
Ruvalcaba syndrome (Orphanet:3121)
SC PHOCOMELIA SYNDROME (OMIM:269000)
SECKEL SYNDROME 1 (OMIM:210600)
SECKEL SYNDROME 4 (OMIM:613676)
SHORT syndrome (Orphanet:3163)
SILVER-RUSSELL SYNDROME (OMIM:180860)
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
STT3B-CDG (Orphanet:370924)
Sanjad-Sakati syndrome (Orphanet:2323)
Schimke immuno-osseous dysplasia (Orphanet:1830)
Seckel syndrome (Orphanet:808)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Silver-Russell syndrome (Orphanet:813)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Spinal muscular atrophy with respiratory distress (Orphanet:98920)
Spondylocostal dysostosis - anal and genitourinary malformations (Orphanet:94095)
Stimmler syndrome (Orphanet:3199)
Stüve-Wiedemann syndrome (Orphanet:3206)
Syndromic diarrhea (Orphanet:84064)
TARP syndrome (Orphanet:2886)
THREE M SYNDROME 1 (OMIM:273750)
TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Tetralogy of Fallot (Orphanet:3303)
Tetraploidy (Orphanet:3305)
Thanatophoric dysplasia (Orphanet:2655)
Thin ribs - tubular bones - dysmorphism (Orphanet:1506)
Thrombocytopenia - Robin sequence (Orphanet:3323)
Thymic-renal-anal-lung dysplasia (Orphanet:3326)
Toriello-Carey syndrome (Orphanet:3338)
Transaldolase deficiency (Orphanet:101028)
Trichomegaly - retina pigmentary degeneration - dwarfism (Orphanet:3363)
Trigonocephaly - short stature - developmental delay (Orphanet:3369)
Triploidy (Orphanet:3376)
Trisomy 13 (Orphanet:3378)
Trisomy 17p (Orphanet:261290)
Trisomy 18 (Orphanet:3380)
Ulbright-Hodes syndrome (Orphanet:3404)
Upper limb defect - eye and ear abnormalities (Orphanet:2489)
VACTERL with hydrocephalus (Orphanet:3412)
VACTERL/VATER association (Orphanet:887)
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay (Orphanet:73246)
Warsaw breakage syndrome (Orphanet:280558)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Williams syndrome (Orphanet:904)
Wolcott-Rallison syndrome (Orphanet:1667)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wolfram syndrome 1 (OMIM:222300)
Wrinkly skin syndrome (Orphanet:2834)
X-linked dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet:163966)
X-linked lethal multiple pterygium syndrome (Orphanet:79447)
X-linked sideroblastic anemia - ataxia (Orphanet:2802)
Xq27.3q28 duplication syndrome (Orphanet:261483)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)
[DEL] COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)