Intrauterine growth retardation
Symptom Information:
Symptom ID: | HPO:0001511 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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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) Growth abnormality(HPO:0001507) Growth delay(HPO:0001510) Intrauterine growth retardation(HPO:0001511) MedDRA: 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) Pregnancy, puerperium and perinatal conditions(MedDRA:10036585) Foetal complications(MedDRA:10016849) Foetal growth complications(MedDRA:10010163) Intrauterine growth retardation(HPO:0001511) |
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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) |