Microcephaly
Symptom Information:
Symptom ID: | HPO:0000252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Quality: | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cross references: |
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Is a (Direct Parents): | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the skeletal system(HPO:0000924) Abnormality of skeletal morphology(HPO:0011842) Abnormal axial skeleton morphology(HPO:0009121) Abnormality of the skull(HPO:0000929) Abnormality of skull size(HPO:0000240) Microcephaly(HPO:0000252) Abnormality of head or neck(HPO:0000152) Abnormality of the head(HPO:0000234) Abnormality of the skull(HPO:0000929) Abnormality of skull size(HPO:0000240) Microcephaly(HPO:0000252) MedDRA: Musculoskeletal and connective tissue disorders(MedDRA:10028395) Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396) Musculoskeletal and connective tissue disorders of skull congenital(MedDRA:10028382) Microcephaly(HPO:0000252) Congenital, familial and genetic disorders(MedDRA:10010331) Neurological disorders congenital(MedDRA:10029299) Cerebral disorders congenital(MedDRA:10052634) Microcephaly(HPO:0000252) |
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Database Frequency: | 832 / 7739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
10q22.3q23.3 microdeletion syndrome | (Orphanet:276413) |
10q22.3q23.3 microduplication syndrome | (Orphanet:276422) |
14q11.2 microdeletion syndrome | (Orphanet:261120) |
14q12 microdeletion syndrome | (Orphanet:261144) |
15q13.3 microdeletion syndrome | (Orphanet:199318) |
15q14 microdeletion syndrome | (Orphanet:261190) |
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microduplication syndrome | (Orphanet:261204) |
16p13.11 microdeletion syndrome | (Orphanet:261236) |
17p11.2 microduplication syndrome | (Orphanet:1713) |
17q11.2 microduplication syndrome | (Orphanet:139474) |
17q21.31 microduplication syndrome | (Orphanet:217340) |
17q23.1q23.2 microdeletion syndrome | (Orphanet:261279) |
19p13.12 microdeletion syndrome | (Orphanet:254346) |
19q13.11 microdeletion syndrome | (Orphanet:217346) |
1p36 deletion syndrome | (Orphanet:1606) |
1q21.1 microdeletion syndrome | (Orphanet:250989) |
1q41q42 microdeletion syndrome | (Orphanet:250999) |
1q44 microdeletion syndrome | (Orphanet:238769) |
2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY | (OMIM:616034) |
2-aminoadipic 2-oxoadipic aciduria | (Orphanet:79154) |
2-methylbutyryl-CoA dehydrogenase deficiency | (Orphanet:79157) |
22q11.2 deletion syndrome | (Orphanet:567) |
22q11.2 microduplication syndrome | (Orphanet:1727) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
2q23.1 microdeletion syndrome | (Orphanet:228402) |
2q31.1 microdeletion syndrome | (Orphanet:251014) |
2q32q33 microdeletion syndrome | (Orphanet:251019) |
2q37 microdeletion syndrome | (Orphanet:1001) |
3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA | (OMIM:616271) |
3-hydroxyisobutyric aciduria | (Orphanet:939) |
3-methylglutaconic aciduria type 1 | (Orphanet:67046) |
3-phosphoserine phosphatase deficiency | (Orphanet:79350) |
3MC SYNDROME 1 | (OMIM:257920) |
3q29 microdeletion syndrome | (Orphanet:65286) |
3q29 microduplication | (Orphanet:251038) |
46,XX gonadal dysgenesis | (Orphanet:243) |
5q35 microduplication syndrome | (Orphanet:228415) |
6-pyruvoyl-tetrahydropterin synthase deficiency | (Orphanet:13) |
6q16 deletion syndrome | (Orphanet:171829) |
6q25 microdeletion syndrome | (Orphanet:251056) |
8p11.2 deletion syndrome | (Orphanet:251066) |
8p23.1 microdeletion syndrome | (Orphanet:251071) |
8q22.1 microdeletion syndrome | (Orphanet:178303) |
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME | (OMIM:231550) |
ADAMS-OLIVER SYNDROME 1 | (OMIM:100300) |
ADAMS-OLIVER SYNDROME 2 | (OMIM:614219) |
ADAMS-OLIVER SYNDROME 3 | (OMIM:614814) |
AICARDI-GOUTIERES SYNDROME 2 | (OMIM:610181) |
AICARDI-GOUTIERES SYNDROME 4 | (OMIM:610333) |
AICARDI-GOUTIERES SYNDROME 6 | (OMIM:615010) |
AICARDI-GOUTIERES SYNDROME 7 | (OMIM:615846) |
ALG1-CDG | (Orphanet:79327) |
ALG11-CDG | (Orphanet:280071) |
ALG13-CDG | (Orphanet:324422) |
ALG3-CDG | (Orphanet:79321) |
ANE syndrome | (Orphanet:157954) |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | (OMIM:201750) |
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES | (OMIM:300887) |
ARACHNOID CYSTS, INTRACRANIAL | (OMIM:207790) |
ARTHROGRYPOSIS, DISTAL, TYPE 2A | (OMIM:193700) |
ARTHROGRYPOSIS, DISTAL, TYPE 2E | (OMIM:121070) |
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 | (OMIM:613404) |
ASPARAGINE SYNTHETASE DEFICIENCY | (OMIM:615574) |
ATAXIA-MICROCEPHALY-CATARACT SYNDROME | (OMIM:208870) |
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 | (OMIM:615919) |
Achalasia - microcephaly | (Orphanet:929) |
Acro-oto-ocular syndrome | (Orphanet:2980) |
Acrocraniofacial dysostosis | (Orphanet:949) |
Acrofacial dysostosis, Catania type | (Orphanet:1786) |
Acute infantile liver failure-multisystemic involvement syndrome | (Orphanet:370088) |
Adams-Oliver syndrome | (Orphanet:974) |
Adducted thumbs - arthrogryposis, Christian type | (Orphanet:2952) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Aicardi syndrome | (Orphanet:50) |
Aicardi-Goutières syndrome | (Orphanet:51) |
Allan-Herndon-Dudley syndrome | (Orphanet:59) |
Alopecia - contractures - dwarfism - intellectual deficit | (Orphanet:1005) |
Alopecia-intellectual deficit syndrome | (Orphanet:2850) |
Alpers syndrome | (Orphanet:726) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
Aminopterin/methotrexate embryofetopathy | (Orphanet:1908) |
Amish infantile epilepsy syndrome | (Orphanet:171714) |
Amish lethal microcephaly | (Orphanet:99742) |
Angelman syndrome | (Orphanet:72) |
Angio-osteohypertrophic syndrome | (Orphanet:2346) |
Anonychia - microcephaly | (Orphanet:1094) |
Anophthalmia/microphthalmia - esophageal atresia | (Orphanet:77298) |
Aortic arch anomaly - peculiar facies - intellectual deficit | (Orphanet:1110) |
Aphalangy - syndactyly - microcephaly | (Orphanet:1113) |
Arachnodactyly - intellectual deficit - dysmorphism | (Orphanet:1130) |
Argininemia | (Orphanet:90) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Aspartylglucosaminuria | (Orphanet:93) |
Ataxia - pancytopenia | (Orphanet:2585) |
Atrioventricular defect - blepharophimosis -radial defects | (Orphanet:1352) |
Atypical Rett syndrome | (Orphanet:3095) |
Auriculoocular anomalies - cleft lip | (Orphanet:71270) |
Autism spectrum disorder-epilepsy-arthrogryposis syndrome | (Orphanet:370943) |
Autosomal dominant microcephaly | (Orphanet:2514) |
Autosomal dominant nonsyndromic intellectual deficit | (Orphanet:178469) |
Autosomal dominant spondylocostal dysostosis | (Orphanet:1797) |
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit | (Orphanet:284282) |
Autosomal recessive chorioretinopathy-microcephaly | (Orphanet:2518) |
Autosomal recessive cutis laxa type 1 | (Orphanet:90349) |
Autosomal recessive cutis laxa type 2 | (Orphanet:90350) |
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 deafness-onychodystrophy syndrome | (Orphanet:79500) |
Autosomal recessive limb-girdle muscular dystrophy type 2K | (Orphanet:86812) |
Autosomal recessive limb-girdle muscular dystrophy type 2S | (Orphanet:369840) |
Autosomal recessive limb-girdle muscular dystrophy type 2T | (Orphanet:363623) |
Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
Autosomal recessive primary microcephaly | (Orphanet:2512) |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | (Orphanet:331176) |
Autosomal recessive spastic paraplegia type 23 | (Orphanet:101003) |
Autosomal recessive spastic paraplegia type 49 | (Orphanet:320385) |
Autosomal recessive spondylocostal dysostosis | (Orphanet:2311) |
BARAITSER-WINTER SYNDROME 1 | (OMIM:243310) |
BARATELA-SCOTT SYNDROME | (OMIM:300881) |
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET | (OMIM:114100) |
BONE MARROW FAILURE SYNDROME 2 | (OMIM:615715) |
BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY | (OMIM:112370) |
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION | (OMIM:613627) |
BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY | (OMIM:211369) |
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA | (OMIM:609945) |
BRESEK syndrome | (Orphanet:85284) |
Bangstad syndrome | (Orphanet:1227) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Bartsocas-Papas syndrome | (Orphanet:1234) |
Beckwith-Wiedemann syndrome due to 11p15 microdeletion | (Orphanet:231127) |
Beta-ureidopropionase deficiency | (Orphanet:65287) |
Bilateral frontal polymicrogyria | (Orphanet:208444) |
Bilateral generalized polymicrogyria | (Orphanet:208447) |
Bilateral striopallidodentate calcinosis | (Orphanet:1980) |
Bird headed-dwarfism, Montreal type | (Orphanet:2617) |
Blackfan-Diamond anemia | (Orphanet:124) |
Blepharophimosis - radioulnar synostosis | (Orphanet:1256) |
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency | (Orphanet:329255) |
Blepharophimosis-intellectual deficit syndrome, SBBYS type | (Orphanet:3047) |
Bloom syndrome | (Orphanet:125) |
Bohring-Opitz syndrome | (Orphanet:97297) |
Bonnemann-Meinecke-Reich syndrome | (Orphanet:1261) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
Bowen-Conradi syndrome | (Orphanet:1270) |
Brachymorphism - onychodysplasia - dysphalangism | (Orphanet:1292) |
Brachytelephalangic chondrodysplasia punctata | (Orphanet:79345) |
Brain calcification, Rajab type | (Orphanet:178506) |
Branchio-oculo-facial syndrome | (Orphanet:1297) |
Bullous dystrophy, macular type | (Orphanet:1867) |
Buschke-Ollendorff syndrome | (Orphanet:1306) |
C syndrome | (Orphanet:1308) |
CADDS | (Orphanet:369942) |
CAMOS syndrome | (Orphanet:83472) |
CARDIAC LIPIDOSIS, FAMILIAL | (OMIM:212080) |
CARDIAC MALFORMATION, CLEFT LIP/PALATE, MICROCEPHALY AND DIGITAL ANOMALIES | (OMIM:600987) |
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 2 | (OMIM:615119) |
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME | (OMIM:212540) |
CEDNIK syndrome | (Orphanet:66631) |
CEREBELLOFACIODENTAL SYNDROME | (OMIM:616202) |
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 | (OMIM:603513) |
CEREBROOCULOFACIOSKELETAL SYNDROME 1 | (OMIM:214150) |
CEREBROOCULOFACIOSKELETAL SYNDROME 2 | (OMIM:610756) |
CEREBROOCULOFACIOSKELETAL SYNDROME 4 | (OMIM:610758) |
CHARGE syndrome | (Orphanet:138) |
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE | (OMIM:302950) |
CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY | (OMIM:215510) |
CK syndrome | (Orphanet:251383) |
CLN10 disease | (Orphanet:228337) |
COCKAYNE SYNDROME A | (OMIM:216400) |
COCKAYNE SYNDROME B | (OMIM:133540) |
COCKAYNE SYNDROME, TYPE III | (OMIM:216411) |
COCOON SYNDROME | (OMIM:613630) |
COFFIN-SIRIS SYNDROME | (OMIM:135900) |
COFS syndrome | (Orphanet:1466) |
COG4-CDG | (Orphanet:263501) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 | (OMIM:615917) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 | (OMIM:616045) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 | (OMIM:616239) |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl | (OMIM:614576) |
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 4 | (OMIM:614701) |
CORPUS CALLOSUM, AGENESIS OF | (OMIM:217990) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 | (OMIM:615282) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 | (OMIM:615411) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 | (OMIM:615412) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 | (OMIM:615771) |
CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME | (OMIM:218650) |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | (OMIM:614437) |
CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS | (OMIM:605685) |
CYCLIC VOMITING SYNDROME | (OMIM:500007) |
Camptodactyly - tall stature - scoliosis - hearing loss | (Orphanet:85164) |
Camptodactyly syndrome, Guadalajara type 1 | (Orphanet:1327) |
Camptodactyly syndrome, Guadalajara type 2 | (Orphanet:1326) |
Cardiodysrhythmic potassium-sensitive periodic paralysis | (Orphanet:37553) |
Carey-Fineman-Ziter syndrome | (Orphanet:1358) |
Carnitine palmitoyl transferase II deficiency, neonatal form | (Orphanet:228308) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
Caudal appendage - deafness | (Orphanet:1123) |
Cerebro-costo-mandibular syndrome | (Orphanet:1393) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Cernunnos-XLF deficiency | (Orphanet:169079) |
Charcot-Marie-Tooth disease type 4B3 | (Orphanet:363981) |
Chondrodysplasia - disorder of sex development | (Orphanet:1422) |
Christianson syndrome | (Orphanet:85278) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Classical phenylketonuria | (Orphanet:79254) |
Cleft palate - large ears - small head | (Orphanet:2013) |
Cockayne syndrome | (Orphanet:191) |
Coffin-Lowry syndrome | (Orphanet:192) |
Coffin-Siris syndrome | (Orphanet:1465) |
Cohen syndrome | (Orphanet:193) |
Combined oxidative phosphorylation defect type 14 | (Orphanet:319519) |
Combined oxidative phosphorylation defect type 15 | (Orphanet:319524) |
Combined oxidative phosphorylation defect type 17 | (Orphanet:369913) |
Combined oxidative phosphorylation defect type 4 | (Orphanet:254925) |
Congenital herpes virus infection | (Orphanet:293) |
Congenital ichthyosis - intellectual deficit - spastic quadriplegia | (Orphanet:352333) |
Congenital ichthyosis - microcephalus - tetraplegia | (Orphanet:2271) |
Congenital intrauterine infection-like syndrome | (Orphanet:1229) |
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect | (Orphanet:280671) |
Congenital muscular dystrophy with cerebellar involvement | (Orphanet:370959) |
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome | (Orphanet:306504) |
Congenital neuronal ceroid lipofuscinosis | (Orphanet:168486) |
Congenital osteogenesis imperfecta - microcephaly - cataracts | (Orphanet:2772) |
Congenital rubella syndrome | (Orphanet:290) |
Congenital toxoplasmosis | (Orphanet:858) |
Congenital unilateral hypoplasia of depressor anguli oris | (Orphanet:1166) |
Cornelia de Lange syndrome | (Orphanet:199) |
Corpus callosum agenesis - neuronopathy | (Orphanet:1496) |
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | (Orphanet:300570) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
Craniosynostosis - fibular aplasia | (Orphanet:1533) |
Craniosynostosis - intracranial calcifications | (Orphanet:52054) |
Craniotelencephalic dysplasia | (Orphanet:1528) |
Cystic leukoencephalopathy without megalencephaly | (Orphanet:85136) |
D,L-2-hydroxyglutaric aciduria | (Orphanet:356978) |
D-glyceric aciduria | (Orphanet:941) |
DE SANCTIS-CACCHIONE SYNDROME | (OMIM:278800) |
DIAMOND-BLACKFAN ANEMIA 1 | (OMIM:105650) |
DPAGT1-CDG | (Orphanet:86309) |
DPM1-CDG | (Orphanet:79322) |
DYGGVE-MELCHIOR-CLAUSEN DISEASE | (OMIM:223800) |
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 | (OMIM:613989) |
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 | (OMIM:613990) |
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 | (OMIM:224230) |
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5 | (OMIM:615190) |
Dandy-Walker malformation - facial hemangioma | (Orphanet:1564) |
Deafness - intellectual deficit, Martin-Probst type | (Orphanet:85321) |
Deafness - onychodystrophy | (Orphanet:3231) |
Desmosterolosis | (Orphanet:35107) |
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type | (Orphanet:363444) |
Diabetic embryopathy | (Orphanet:1926) |
Dihydropteridine reductase deficiency | (Orphanet:226) |
Dihydropyrimidine dehydrogenase deficiency | (Orphanet:1675) |
Distal 22q11.2 microdeletion syndrome | (Orphanet:261330) |
Distal 22q11.2 microduplication syndrome | (Orphanet:261337) |
Distal 7q11.23 microdeletion syndrome | (Orphanet:254351) |
Distal monosomy 10p | (Orphanet:1580) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 13q | (Orphanet:1590) |
Distal monosomy 15q | (Orphanet:1596) |
Distal monosomy 17q | (Orphanet:1597) |
Distal monosomy 1q | (Orphanet:36367) |
Distal monosomy 3p | (Orphanet:1620) |
Distal monosomy 7q36 | (Orphanet:1636) |
Distal trisomy 15q | (Orphanet:1707) |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | (Orphanet:70594) |
Duane anomaly - myopathy - scoliosis | (Orphanet:50817) |
Duane retraction syndrome | (Orphanet:233) |
Dubowitz syndrome | (Orphanet:235) |
Dwarfism - intellectual deficit - eye abnormality | (Orphanet:2650) |
Dyggve-Melchior-Clausen disease | (Orphanet:239) |
Dysmorphism - short stature - deafness - disorder of sex development | (Orphanet:2282) |
Dysostosis, Stanescu type | (Orphanet:1798) |
Dysplastic cortical hyperostosis | (Orphanet:2204) |
EEC syndrome | (Orphanet:1896) |
ENCEPHALOMALACIA, MULTILOCULAR | (OMIM:225700) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 | (OMIM:614558) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 | (OMIM:614959) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 | (OMIM:616211) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 | (OMIM:616339) |
EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY | (OMIM:133750) |
Ear-patella-short stature syndrome | (Orphanet:2554) |
Early infantile epileptic encephalopathy | (Orphanet:1934) |
Emanuel syndrome | (Orphanet:96170) |
Encephalopathy due to sulfite oxidase deficiency | (Orphanet:833) |
Endosteal sclerosis - cerebellar hypoplasia | (Orphanet:85186) |
Epilepsy - microcephaly - skeletal dysplasia | (Orphanet:1948) |
Ermine phenotype | (Orphanet:999) |
Erythrokeratodermia variabilis | (Orphanet:317) |
Extrasystoles - short stature - hyperpigmentation - microcephaly | (Orphanet:1964) |
FACIOCARDIOMELIC SYNDROME | (OMIM:612731) |
FANCONI ANEMIA, COMPLEMENTATION GROUP A | (OMIM:227650) |
FANCONI ANEMIA, COMPLEMENTATION GROUP C | (OMIM:227645) |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | (OMIM:227646) |
FANCONI ANEMIA, COMPLEMENTATION GROUP E | (OMIM:600901) |
FANCONI ANEMIA, COMPLEMENTATION GROUP G | (OMIM:614082) |
FANCONI ANEMIA, COMPLEMENTATION GROUP N | (OMIM:610832) |
FANCONI ANEMIA, COMPLEMENTATION GROUP P | (OMIM:613951) |
FANCONI ANEMIA, COMPLEMENTATION GROUP Q | (OMIM:615272) |
FEINGOLD SYNDROME 1 | (OMIM:164280) |
FEINGOLD SYNDROME 2 | (OMIM:614326) |
FORSYTHE-WAKELING SYNDROME | (OMIM:613606) |
Fallot complex - intellectual deficit - growth delay | (Orphanet:3304) |
Familial visceral myopathy | (Orphanet:2604) |
Fanconi anemia | (Orphanet:84) |
Feingold syndrome | (Orphanet:1305) |
Fetal Gaucher disease | (Orphanet:85212) |
Fetal alcohol syndrome | (Orphanet:1915) |
Fetal brain disruption sequence | (Orphanet:1665) |
Fetal hydantoin syndrome | (Orphanet:1912) |
Fetal methylmercury syndrome | (Orphanet:1917) |
Fetal trimethadione syndrome | (Orphanet:1913) |
Fetal varicella syndrome | (Orphanet:291) |
Filippi syndrome | (Orphanet:3255) |
Focal dermal hypoplasia | (Orphanet:2092) |
Fraser syndrome | (Orphanet:2052) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Frontonasal dysplasia with alopecia and genital anomaly | (Orphanet:228390) |
Fryns-Smeets-Thiry syndrome | (Orphanet:2058) |
Fumaric aciduria | (Orphanet:24) |
GMS syndrome | (Orphanet:2090) |
GOMBO SYNDROME | (OMIM:233270) |
GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY | (OMIM:608278) |
Galactosemia | (Orphanet:352) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Gaucher disease type 2 | (Orphanet:77260) |
Genito-palato-cardiac syndrome | (Orphanet:2075) |
Genitopatellar syndrome | (Orphanet:85201) |
Geroderma osteodysplastica | (Orphanet:2078) |
Goldberg-Shprintzen megacolon syndrome | (Orphanet:66629) |
Grix-Blankenship-Peterson syndrome | (Orphanet:2099) |
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) |
Growth hormone insensitivity syndrome | (Orphanet:181393) |
HOLOPROSENCEPHALY 11 | (OMIM:614226) |
HOLOPROSENCEPHALY 2 | (OMIM:157170) |
HOLOPROSENCEPHALY 5 | (OMIM:609637) |
HOLOPROSENCEPHALY 9 | (OMIM:610829) |
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS | (OMIM:610680) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 | (OMIM:614749) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 | (OMIM:614207) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 | (OMIM:615716) |
HYPERREFLEXIA | (OMIM:145290) |
HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY | (OMIM:241000) |
Hall-Riggs syndrome | (Orphanet:2107) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Hamel cerebro-palato-cardiac syndrome | (Orphanet:93946) |
Harrod syndrome | (Orphanet:2115) |
Hartsfield-Bixler-Demyer syndrome | (Orphanet:2117) |
Hennekam-Beemer syndrome | (Orphanet:2135) |
Hepatic veno-occlusive disease - immunodeficiency | (Orphanet:79124) |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | (Orphanet:137681) |
Hermansky-Pudlak syndrome with neutropenia | (Orphanet:183678) |
Holmes-Gang syndrome | (Orphanet:93970) |
Holoprosencephaly | (Orphanet:2162) |
Holoprosencephaly - caudal dysgenesis | (Orphanet:2165) |
Holoprosencephaly - craniosynostosis | (Orphanet:2163) |
Holoprosencephaly - postaxial polydactyly | (Orphanet:2166) |
Holoprosencephaly - radial heart renal anomalies | (Orphanet:3186) |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency | (Orphanet:395) |
Hoyeraal-Hreidarsson syndrome | (Orphanet:3322) |
Humero-radial synostosis | (Orphanet:3265) |
Hyperlysinemia, type I | (OMIM:238700) |
Hypertelorism - hypospadias - polysyndactyly syndrome | (Orphanet:2211) |
Hypertelorism-microtia-facial clefting syndrome | (Orphanet:2213) |
Hypertrichosis cubiti - short stature | (Orphanet:2220) |
Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency | (Orphanet:2435) |
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | (Orphanet:363523) |
Hypomyelination with atrophy of basal ganglia and cerebellum | (Orphanet:139441) |
Hypospadias - intellectual deficit, Goldblatt type | (Orphanet:2261) |
Hypotonia - failure to thrive - microcephaly | (Orphanet:79507) |
Hypotonia with lactic acidemia and hyperammonemia | (Orphanet:137908) |
Hypotonia-cerebral atrophy-hyperglycinemia syndrome | (Orphanet:363424) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES | (OMIM:615966) |
INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY | (OMIM:600546) |
Ichthyosis follicularis - alopecia - photophobia | (Orphanet:2273) |
Immunodeficiency with natural-killer cell deficiency | (Orphanet:75391) |
Incontinentia pigmenti | (Orphanet:464) |
Infantile axonal neuropathy | (Orphanet:2679) |
Infantile epileptic-dyskinetic encephalopathy | (Orphanet:364063) |
Infantile neuronal ceroid lipofuscinosis | (Orphanet:79263) |
Infantile spasms - broad thumbs | (Orphanet:3173) |
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations | (Orphanet:319462) |
Inherited congenital spastic tetraplegia | (Orphanet:210141) |
Intellectual deficit - athetosis - microphthalmia | (Orphanet:1236) |
Intellectual deficit - hypoplastic corpus callosum - preauricular tag | (Orphanet:1495) |
Intellectual deficit - microcephaly - phalangeal - facial abnormalities | (Orphanet:3067) |
Intellectual deficit - myopathy - short stature - endocrine defect | (Orphanet:3068) |
Intellectual deficit - sparse hair - brachydactyly | (Orphanet:3051) |
Intellectual deficit, Buenos-Aires type | (Orphanet:3079) |
Intellectual deficit, X-linked - craniofacioskeletal syndrome | (Orphanet:163979) |
Intellectual deficit, X-linked - cubitus valgus - dysmorphism | (Orphanet:85280) |
Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior | (Orphanet:85329) |
Intellectual deficit, X-linked - psychosis - macroorchidism | (Orphanet:3077) |
Intellectual deficit, X-linked, Abidi type | (Orphanet:85273) |
Intellectual deficit, X-linked, Brooks type | (Orphanet:3056) |
Intellectual deficit, X-linked, Cantagrel type | (Orphanet:85277) |
Intellectual deficit, X-linked, Miles-Carpenter type | (Orphanet:85283) |
Intellectual deficit, X-linked, Shrimpton type | (Orphanet:85324) |
Intellectual deficit, X-linked, Vitale type | (Orphanet:85289) |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | (Orphanet:363611) |
Intellectual disability-strabismus syndrome | (Orphanet:363528) |
Isolated ATP synthase deficiency | (Orphanet:254913) |
Isolated cerebellar hypoplasia/agenesis | (Orphanet:1398) |
Isolated osteopoikilosis | (Orphanet:166119) |
Isolated trigonocephaly | (Orphanet:3366) |
Ito hypomelanosis | (Orphanet:435) |
Jacobsen syndrome | (Orphanet:2308) |
Johanson-Blizzard syndrome | (Orphanet:2315) |
Joubert syndrome 1 | (OMIM:213300) |
Juberg-Hayward syndrome | (Orphanet:2319) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
Jung-Wolff-Back-Stahl syndrome | (Orphanet:2321) |
KABUKI SYNDROME 1 | (OMIM:147920) |
KABUKI SYNDROME 2 | (OMIM:300867) |
KBG syndrome | (Orphanet:2332) |
KEPPEN-LUBINSKY SYNDROME | (OMIM:614098) |
Kabuki syndrome | (Orphanet:2322) |
Kearns-Sayre syndrome | (Orphanet:480) |
Kenny-Caffey syndrome | (Orphanet:2333) |
Keratosis follicularis - dwarfism - cerebral atrophy | (Orphanet:2339) |
Kleefstra syndrome | (Orphanet:261494) |
Kleefstra syndrome due to 9q34 microdeletion | (Orphanet:96147) |
Klippel-Trénaunay syndrome | (Orphanet:90308) |
Koolen-De Vries syndrome | (Orphanet:96169) |
LACTIC ACIDURIA DUE TO D-LACTIC ACID | (OMIM:245450) |
LAMBOTTE SYNDROME | (OMIM:245552) |
LEUKODYSTROPHY, HYPOMYELINATING, 9 | (OMIM:616140) |
LIG4 syndrome | (Orphanet:99812) |
LISSENCEPHALY 6 WITH MICROCEPHALY | (OMIM:616212) |
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA | (OMIM:616342) |
LUBS X-LINKED MENTAL RETARDATION SYNDROME | (OMIM:300260) |
Langer-Giedion syndrome | (Orphanet:502) |
Laryngeal abductor paralysis | (Orphanet:2808) |
Lathosterolosis | (Orphanet:46059) |
Leigh syndrome | (Orphanet:506) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Leprechaunism | (Orphanet:508) |
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect | (Orphanet:330050) |
Lethal hemolytic anemia - genital anomalies | (Orphanet:1046) |
Lethal multiple pterygium syndrome | (Orphanet:33108) |
Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
Lethal polymalformative syndrome, Boissel type | (Orphanet:210144) |
Leukocyte adhesion deficiency | (Orphanet:2968) |
Leukocyte adhesion deficiency type II | (Orphanet:99843) |
Limb body wall complex | (Orphanet:2369) |
Lissencephaly due to TUBA1A mutation | (Orphanet:171680) |
Lissencephaly syndrome, Norman-Roberts type | (Orphanet:89844) |
Low birth weight - dwarfism - dysgammaglobulinemia | (Orphanet:2621) |
Lowry-MacLean syndrome | (Orphanet:2409) |
Lowry-Wood syndrome | (Orphanet:1824) |
MASA syndrome | (Orphanet:2466) |
MEGDEL syndrome | (Orphanet:352328) |
MEHMO syndrome | (Orphanet:85282) |
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) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE | (OMIM:609037) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 | (OMIM:614563) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 | (OMIM:614608) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 16 | (OMIM:614609) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 | (OMIM:615075) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 | (OMIM:615834) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 | (OMIM:615866) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | (OMIM:616268) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 | (OMIM:616311) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | (OMIM:612621) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 | (OMIM:614104) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | (OMIM:614255) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 | (OMIM:614340) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 | (OMIM:615541) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 | (OMIM:615599) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 | (OMIM:616281) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 | (OMIM:611091) |
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM | (OMIM:606242) |
MENTAL RETARDATION, X-LINKED 30 | (OMIM:300558) |
METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY | (OMIM:614105) |
MGAT2-CDG | (Orphanet:79329) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | (OMIM:210710) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III | (OMIM:210730) |
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:615414) |
MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:616080) |
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:616051) |
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS | (OMIM:604317) |
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:604804) |
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:604321) |
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:608716) |
MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:608393) |
MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:612703) |
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:614673) |
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:614852) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 | (OMIM:616171) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 | (OMIM:616335) |
MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE | (OMIM:601420) |
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE | (OMIM:612947) |
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM | (OMIM:616033) |
MICROCEPHALY-MICROMELIA SYNDROME | (OMIM:251230) |
MICROHYDRANENCEPHALY | (OMIM:605013) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
MICROPHTHALMIA, SYNDROMIC 13 | (OMIM:300915) |
MICROPHTHALMIA, SYNDROMIC 7 | (OMIM:309801) |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 | (OMIM:604273) |
MMEP syndrome | (Orphanet:3434) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
MOVED TO 210600 | (OMIM:608664) |
MPDU1-CDG | (Orphanet:79323) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 | (OMIM:236670) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 | (OMIM:615249) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 | (OMIM:615350) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 | (OMIM:613150) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 | (OMIM:253280) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1 | (OMIM:613155) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 | (OMIM:615351) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 | (OMIM:613156) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3 | (OMIM:613151) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | (OMIM:606612) |
Mandibulofacial dysostosis-microcephaly syndrome | (Orphanet:79113) |
Marden-Walker syndrome | (Orphanet:2461) |
Marinesco-Sjögren syndrome | (Orphanet:559) |
Maternal hyperphenylalaninemia | (Orphanet:2209) |
Maternal hyperthermia induced birth defects | (Orphanet:2216) |
Maternally-inherited Leigh syndrome | (Orphanet:255210) |
Meckel syndrome | (Orphanet:564) |
Meckel syndrome, type 1 | (OMIM:249000) |
Meckel syndrome, type 12 | (OMIM:616258) |
Meckel syndrome, type 4 | (OMIM:611134) |
Meckel syndrome, type 8 | (OMIM:613885) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Menkes disease | (Orphanet:565) |
Methylmalonic acidemia with homocystinuria | (Orphanet:26) |
Methylmalonic acidemia with homocystinuria, type cblC | (Orphanet:79282) |
Methylmalonic acidemia with homocystinuria, type cblX | (Orphanet:369962) |
Mevalonic aciduria | (Orphanet:29) |
Micrencephaly - corpus callosum agenesis - abnormal genitalia | (Orphanet:2508) |
Micro syndrome | (Orphanet:2510) |
Microbrachycephaly - ptosis - cleft lip | (Orphanet:2511) |
Microcephalic osteodysplastic dysplasia, Saul-Wilson type | (Orphanet:85172) |
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, Alazami type | (Orphanet:319671) |
Microcephalic primordial dwarfism, Dauber type | (Orphanet:319675) |
Microcephalic primordial dwarfism, Toriello type | (Orphanet:2643) |
Microcephaly - brachydactyly - kyphoscoliosis | (Orphanet:3433) |
Microcephaly - brain defect - spasticity - hypernatremia | (Orphanet:2523) |
Microcephaly - cardiac defect - lung malsegmentation | (Orphanet:2516) |
Microcephaly - cervical spine fusion anomalies | (Orphanet:2522) |
Microcephaly - cleft palate | (Orphanet:2521) |
Microcephaly - deafness - intellectual deficit | (Orphanet:2533) |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | (Orphanet:217026) |
Microcephaly - glomerulonephritis - marfanoid habitus | (Orphanet:2172) |
Microcephaly - intellectual deficit - phalangeal and neurological anomalies | (Orphanet:137658) |
Microcephaly - lymphedema - chorioretinopathy | (Orphanet:2526) |
Microcephaly - seizures - developmental delay | (Orphanet:228418) |
Microcephaly - seizures - intellectual deficit - heart disease | (Orphanet:2519) |
Microcephaly-albinism-digital anomalies | (Orphanet:2513) |
Microcephaly-cardiomyopathy syndrome | (Orphanet:2515) |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | (Orphanet:329332) |
Microcephaly-microcornea syndrome, Seemanova type | (Orphanet:2528) |
Microform holoprosencephaly | (Orphanet:280200) |
Microlissencephaly | (Orphanet:1083) |
Microlissencephaly - micromelia | (Orphanet:50810) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Microphthalmia with linear skin defects syndrome | (Orphanet:2556) |
Microphthalmia, Lenz type | (Orphanet:568) |
Mietens syndrome | (Orphanet:2557) |
Mikati-Najjar-Sahli syndrome | (Orphanet:2558) |
Miller-Dieker syndrome | (Orphanet:531) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | (Orphanet:369897) |
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | (Orphanet:279934) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Mitochondrial myopathy and sideroblastic anemia | (Orphanet:2598) |
Monosomy 13q14 | (Orphanet:1587) |
Monosomy 18p | (Orphanet:1598) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 22q13 | (Orphanet:48652) |
Monosomy 5p | (Orphanet:281) |
Monosomy 9p | (Orphanet:261112) |
Morse-Rawnsley-Sargent syndrome | (Orphanet:2570) |
Mosaic trisomy 9 | (Orphanet:99776) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Mowat-Wilson syndrome due to monosomy 2q22 | (Orphanet:261537) |
Moynahan syndrome | (Orphanet:2574) |
Mucolipidosis type 4 | (Orphanet:578) |
Mullerian duct anomalies - limb anomalies | (Orphanet:2491) |
Multiple benign circumferential skin creases on limbs | (Orphanet:2505) |
Multiple sulfatase deficiency | (Orphanet:585) |
Muscle-eye-brain disease | (Orphanet:588) |
Myhre syndrome | (Orphanet:2588) |
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 | (OMIM:600462) |
N-ACETYLASPARTATE DEFICIENCY | (OMIM:614063) |
NEU-LAXOVA SYNDROME 2 | (OMIM:616038) |
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET | (OMIM:616263) |
Nager syndrome | (Orphanet:245) |
Neu-Laxova syndrome | (Orphanet:2671) |
Neuroectodermal syndrome, Johnson type | (Orphanet:2316) |
Nevus comedonicus syndrome | (Orphanet:64754) |
Nijmegen breakage syndrome | (Orphanet:647) |
Nijmegen breakage syndrome-like disorder | (Orphanet:240760) |
Non-distal trisomy 10q | (Orphanet:1695) |
Non-distal trisomy 13q | (Orphanet:1702) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
Norrie disease | (Orphanet:649) |
OCULODENTODIGITAL DYSPLASIA | (OMIM:164200) |
OROFACIODIGITAL SYNDROME XIV | (OMIM:615948) |
Oculo-palato-cerebral syndrome | (Orphanet:2714) |
Oculocerebral hypopigmentation syndrome, Cross type | (Orphanet:2719) |
Oculocerebrofacial syndrome, Kaufman type | (Orphanet:2707) |
Oculodentodigital dysplasia | (Orphanet:2710) |
Oculofaciocardiodental syndrome | (Orphanet:2712) |
Okamoto syndrome | (Orphanet:2729) |
Orofaciodigital syndrome type 1 | (Orphanet:2750) |
Orofaciodigital syndrome type 4 | (Orphanet:2753) |
Orofaciodigital syndrome type 8 | (Orphanet:2755) |
Osteoporosis - macrocephaly - blindness - joint hyperlaxity | (Orphanet:2787) |
Osteoporosis - pseudoglioma | (Orphanet:2788) |
PAGOD syndrome | (Orphanet:991) |
PAINE SYNDROME | (OMIM:311400) |
PEHO syndrome | (Orphanet:2836) |
PELIZAEUS-MERZBACHER DISEASE | (OMIM:312080) |
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE | (OMIM:608097) |
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER | (OMIM:616154) |
PHACE syndrome | (Orphanet:42775) |
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY | (OMIM:602342) |
PMM2-CDG | (Orphanet:79318) |
POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA | (OMIM:263210) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 | (OMIM:615803) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B | (OMIM:612389) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2C | (OMIM:612390) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E | (OMIM:615851) |
PREMATURE AGING SYNDROME, OKAMOTO TYPE | (OMIM:601811) |
PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES | (OMIM:602249) |
Pancreatic hypoplasia - diabetes - congenital heart disease | (Orphanet:2255) |
Paternal 20q13.2q13.3 microdeletion syndrome | (Orphanet:261304) |
Pelizaeus-Merzbacher disease | (Orphanet:702) |
Pelizaeus-Merzbacher-like disease | (Orphanet:280270) |
Pelizaeus-Merzbacher-like due to AIMP1 mutation | (Orphanet:280293) |
Pentasomy X | (Orphanet:11) |
Permanent neonatal diabetes mellitus | (Orphanet:99885) |
Perrault Syndrome 3 | (OMIM:614129) |
Peters-plus syndrome | (Orphanet:709) |
Phenylketonuria | (Orphanet:716) |
Piebaldism | (Orphanet:2884) |
Pilotto syndrome | (Orphanet:2894) |
Pitt-Hopkins syndrome | (Orphanet:2896) |
Poland syndrome | (Orphanet:2911) |
Polymicrogyria due to TUBB2B mutation | (Orphanet:300573) |
Polymicrogyria with optic nerve hypoplasia | (Orphanet:250972) |
Pontocerebellar hypoplasia type 1 | (Orphanet:2254) |
Pontocerebellar hypoplasia type 3 | (Orphanet:97249) |
Pontocerebellar hypoplasia type 4 | (Orphanet:166063) |
Pontocerebellar hypoplasia type 5 | (Orphanet:166068) |
Pontocerebellar hypoplasia type 6 | (Orphanet:166073) |
Pontocerebellar hypoplasia, type 9 | (OMIM:615809) |
Prader-Willi syndrome | (Orphanet:739) |
Premature chromosome condensation with microcephaly and intellectual deficit | (Orphanet:52183) |
Primary cutis verticis gyrata | (Orphanet:671) |
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome | (Orphanet:306558) |
Primordial short stature - microdontia - opalescent and rootless teeth | (Orphanet:46658) |
Progressive external ophthalmoplegia - myopathy - emaciation | (Orphanet:352447) |
Progressive myoclonic epilepsy type 3 | (Orphanet:263516) |
Progressive myoclonic epilepsy with dystonia | (Orphanet:352596) |
Prominent glabella - microcephaly - hypogenitalism | (Orphanet:2083) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Pseudoprogeria syndrome | (Orphanet:2985) |
Pyruvate dehydrogenase E1-alpha deficiency | (Orphanet:79243) |
Pyruvate dehydrogenase E2 deficiency | (Orphanet:79244) |
Pyruvate dehydrogenase E3 deficiency | (Orphanet:2394) |
Pyruvate dehydrogenase E3-binding protein deficiency | (Orphanet:255182) |
Pyruvate dehydrogenase deficiency | (Orphanet:765) |
Pyruvate dehydrogenase lipoic acid synthetase deficiency | (OMIM:614462) |
RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION | (OMIM:268050) |
RFT1-CDG | (Orphanet:244310) |
RIDDLE SYNDROME | (OMIM:611943) |
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL | (OMIM:614498) |
ROBERTS SYNDROME | (OMIM:268300) |
Recessive hereditary methemoglobinemia type 1 | (Orphanet:139373) |
Recessive hereditary methemoglobinemia type 2 | (Orphanet:139380) |
Renal tubular dysgenesis | (Orphanet:3033) |
Renal tubular dysgenesis of genetic origin | (Orphanet:97369) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Renpenning syndrome | (Orphanet:3242) |
Retinopathy - anemia- central nervous system anomalies | (Orphanet:3088) |
Rett syndrome | (Orphanet:778) |
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) |
Ring chromosome 1 | (Orphanet:1437) |
Ring chromosome 6 | (Orphanet:1448) |
Roberts syndrome | (Orphanet:3103) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
Rubinstein-Taybi syndrome | (Orphanet:783) |
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) |
Ruvalcaba syndrome | (Orphanet:3121) |
SC PHOCOMELIA SYNDROME | (OMIM:269000) |
SECKEL SYNDROME 1 | (OMIM:210600) |
SECKEL SYNDROME 2 | (OMIM:606744) |
SECKEL SYNDROME 4 | (OMIM:613676) |
SECKEL SYNDROME 5 | (OMIM:613823) |
SECKEL SYNDROME 6 | (OMIM:614728) |
SECKEL SYNDROME 8 | (OMIM:615807) |
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS | (OMIM:609654) |
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES | (OMIM:615789) |
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION | (OMIM:612447) |
SLC35A2-CDG | (Orphanet:356961) |
SMITH-MCCORT DYSPLASIA 1 | (OMIM:607326) |
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE | (OMIM:614066) |
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE | (OMIM:612936) |
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE | (OMIM:613744) |
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE | (OMIM:614067) |
SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION | (OMIM:271109) |
SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY | (OMIM:271110) |
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES | (OMIM:600093) |
STT3A-CDG | (Orphanet:370921) |
STT3B-CDG | (Orphanet:370924) |
Saldino-Mainzer syndrome | (Orphanet:140969) |
Sanjad-Sakati syndrome | (Orphanet:2323) |
Satoyoshi syndrome | (Orphanet:3130) |
Say-Barber-Miller syndrome | (Orphanet:3132) |
Schilbach-Rott syndrome | (Orphanet:2353) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Schisis association | (Orphanet:63862) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Seckel syndrome | (Orphanet:808) |
Severe X-linked intellectual deficit, Gustavson type | (Orphanet:3078) |
Severe combined immunodeficiency | (Orphanet:183660) |
Severe intellectual deficit and progressive spastic paraplegia | (Orphanet:280763) |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | (Orphanet:369939) |
Short stature - craniofacial anomalies - genital hypoplasia | (Orphanet:2994) |
Short stature - heart defect - craniofacial anomalies | (Orphanet:1088) |
Short stature - intellectual deficit - eye anomalies - cleft lip/palate | (Orphanet:2649) |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | (Orphanet:314394) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Sjögren-Larsson syndrome | (Orphanet:816) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Smith-Magenis syndrome | (Orphanet:819) |
Smith-McCort dysplasia | (Orphanet:178355) |
Solitary median maxillary central incisor syndrome | (Orphanet:2286) |
Spastic paraplegia 64, autosomal recessive | (OMIM:615683) |
Spasticity - intellectual deficit - X-linked epilepsy | (Orphanet:3175) |
Spondyloepimetaphyseal dysplasia, Geneviève type | (Orphanet:168454) |
Sternal malformation - vascular dysplasia | (Orphanet:3195) |
Stimmler syndrome | (Orphanet:3199) |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | (Orphanet:308386) |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | (Orphanet:308393) |
Symmetrical thalamic calcifications | (Orphanet:1314) |
Syndromic X-linked intellectual deficit due to JARID1C mutation | (Orphanet:85279) |
Syngnathia multiple anomalies | (Orphanet:3262) |
Synostosis - microcephaly - scoliosis | (Orphanet:3268) |
TERATOCARCINOMA-DERIVED GROWTH FACTOR 1 | (OMIM:187395) |
TRICHORRHEXIS NODOSA SYNDROME | (OMIM:275550) |
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 | (OMIM:234050) |
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE | (OMIM:601675) |
TRIGLYCERIDE STORAGE DISEASE, TYPE I | (OMIM:190420) |
TRIGONOCEPHALY 1 | (OMIM:190440) |
TRIGONOCEPHALY 2 | (OMIM:614485) |
Tetraploidy | (Orphanet:3305) |
Tetrasomy 18p | (Orphanet:3307) |
Thrombocytopenia - Robin sequence | (Orphanet:3323) |
Toluene embryopathy | (Orphanet:1920) |
Toriello-Carey syndrome | (Orphanet:3338) |
Townes-Brocks syndrome | (Orphanet:857) |
Tricho-oculo-dermo-vertebral syndrome | (Orphanet:3354) |
Trichodental syndrome | (Orphanet:3351) |
Triple A syndrome | (Orphanet:869) |
Trisomy 17p | (Orphanet:261290) |
Trisomy 18 | (Orphanet:3380) |
Trisomy 4p | (Orphanet:1738) |
Trisomy 9p | (Orphanet:236) |
Tyrosinemia type 2 | (Orphanet:28378) |
Tyrosinemia type 3 | (Orphanet:69723) |
VELOCARDIOFACIAL SYNDROME | (OMIM:192430) |
VERHEIJ SYNDROME | (OMIM:615583) |
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence | (Orphanet:3201) |
Vici syndrome | (Orphanet:1493) |
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay | (Orphanet:73246) |
WAGR syndrome | (Orphanet:893) |
WARBURG MICRO SYNDROME 1 | (OMIM:600118) |
WARBURG MICRO SYNDROME 2 | (OMIM:614225) |
WARBURG MICRO SYNDROME 3 | (OMIM:614222) |
WEBB-DATTANI SYNDROME | (OMIM:615926) |
Waardenburg syndrome | (Orphanet:3440) |
Waardenburg syndrome type 3 | (Orphanet:896) |
Walker-Warburg syndrome | (Orphanet:899) |
Warsaw breakage syndrome | (Orphanet:280558) |
Weaver-Williams syndrome | (Orphanet:3448) |
White matter hypoplasia - corpus callosum agenesis - intellectual deficit | (Orphanet:3207) |
Williams syndrome | (Orphanet:904) |
Wilson-Turner syndrome | (Orphanet:3459) |
Wolcott-Rallison syndrome | (Orphanet:1667) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Worster-Drought syndrome | (Orphanet:3465) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked complicated corpus callosum dysgenesis | (Orphanet:1497) |
X-linked creatine transporter deficiency | (Orphanet:52503) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked intellectual deficit, Golabi-Ito-Hall type | (Orphanet:93947) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked intellectual disability-retinitis pigmentosa syndrome | (Orphanet:85332) |
X-linked lissencephaly with abnormal genitalia | (Orphanet:452) |
X-linked mandibulofacial dysostosis | (Orphanet:1131) |
XFE PROGEROID SYNDROME | (OMIM:610965) |
XK aprosencephaly | (Orphanet:3469) |
XYLOSIDASE DEFICIENCY | (OMIM:278900) |
Xeroderma pigmentosum | (Orphanet:910) |
Xeroderma pigmentosum complementation group A | (Orphanet:276249) |
Xeroderma pigmentosum complementation group B | (Orphanet:276252) |
Xeroderma pigmentosum complementation group D | (Orphanet:276258) |
Xeroderma pigmentosum complementation group F | (Orphanet:276264) |
Xeroderma pigmentosum complementation group G | (Orphanet:276267) |
Xeroderma pigmentosum/Cockayne syndrome complex | (Orphanet:220295) |
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) |