Muscular hypotonia
Symptom Information:
Symptom ID: | HPO:0001252 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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) Abnormality of the musculature(HPO:0003011) Abnormality of muscle physiology(HPO:0011804) Abnormal muscle tone(HPO:0003808) Muscular hypotonia(HPO:0001252) MedDRA: Musculoskeletal and connective tissue disorders(MedDRA:10028395) Muscle disorders(MedDRA:10028302) Muscle weakness conditions(MedDRA:10062913) Muscular hypotonia(HPO:0001252) Muscle tone abnormalities(MedDRA:10028343) Muscular hypotonia(HPO:0001252) |
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Database Frequency: | 990 / 7739 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
12q14 microdeletion syndrome | (Orphanet:94063) |
14q12 microdeletion syndrome | (Orphanet:261144) |
14q22q23 microdeletion syndrome | (Orphanet:264200) |
15q11q13 microduplication syndrome | (Orphanet:238446) |
15q13.3 microdeletion syndrome | (Orphanet:199318) |
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
17p11.2 microduplication syndrome | (Orphanet:1713) |
17p13.3 microduplication syndrome | (Orphanet:217385) |
17q11 microdeletion syndrome | (Orphanet:97685) |
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) |
1p36 deletion syndrome | (Orphanet:1606) |
1q21.1 microdeletion syndrome | (Orphanet:250989) |
1q21.1 microduplication syndrome | (Orphanet:250994) |
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) |
20p12.3 microdeletion syndrome | (Orphanet:261295) |
22q11.2 deletion syndrome | (Orphanet:567) |
22q11.2 microduplication syndrome | (Orphanet:1727) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
2p21 microdeletion syndrome | (Orphanet:163693) |
2q23.1 microdeletion syndrome | (Orphanet:228402) |
2q31.1 microdeletion syndrome | (Orphanet:251014) |
2q32q33 microdeletion syndrome | (Orphanet:251019) |
2q37 microdeletion syndrome | (Orphanet:1001) |
3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY | (OMIM:231530) |
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY | (OMIM:210200) |
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY | (OMIM:210210) |
3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA | (OMIM:616271) |
3-methylglutaconic aciduria type 4 | (Orphanet:67048) |
3C syndrome | (Orphanet:7) |
3q13 microdeletion syndrome | (Orphanet:1621) |
3q29 microduplication | (Orphanet:251038) |
4-hydroxybutyric aciduria | (Orphanet:22) |
48,XXXY syndrome | (Orphanet:96263) |
48,XXYY syndrome | (Orphanet:10) |
49,XXXXY syndrome | (Orphanet:96264) |
4q21 microdeletion syndrome | (Orphanet:238750) |
5p13 microduplication syndrome | (Orphanet:329802) |
5q14.3 microdeletion syndrome | (Orphanet:228384) |
6-pyruvoyl-tetrahydropterin synthase deficiency | (Orphanet:13) |
6p22 microdeletion syndrome | (Orphanet:251046) |
6q16 deletion syndrome | (Orphanet:171829) |
6q25 microdeletion syndrome | (Orphanet:251056) |
8q12 microduplication syndrome | (Orphanet:228399) |
8q21.11 microdeletion syndrome | (Orphanet:284160) |
ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY | (OMIM:614055) |
ACETYL-CoA CARBOXYLASE DEFICIENCY | (OMIM:613933) |
ADAMS-OLIVER SYNDROME 1 | (OMIM:100300) |
ADAMS-OLIVER SYNDROME 2 | (OMIM:614219) |
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA | (OMIM:613623) |
AICA-ribosiduria | (Orphanet:250977) |
AICARDI-GOUTIERES SYNDROME 3 | (OMIM:610329) |
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME | (OMIM:615510) |
ALDH18A1-related De Barsy syndrome | (Orphanet:35664) |
ALG1-CDG | (Orphanet:79327) |
ALG12-CDG | (Orphanet:79324) |
ALG13-CDG | (Orphanet:324422) |
ALG3-CDG | (Orphanet:79321) |
ALG6-CDG | (Orphanet:79320) |
ALG9-CDG | (Orphanet:79328) |
APNEA, CENTRAL SLEEP | (OMIM:207720) |
ARIMA SYNDROME | (OMIM:243910) |
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 | (OMIM:613404) |
ATAXIA-MICROCEPHALY-CATARACT SYNDROME | (OMIM:208870) |
ATONIC-ASTATIC SYNDROME OF FOERSTER | (OMIM:209100) |
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 | (OMIM:170995) |
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES | (OMIM:109120) |
Abetalipoproteinemia | (Orphanet:14) |
Achondroplasia | (Orphanet:15) |
Acid phosphatase deficiency | (Orphanet:35121) |
Acro-cardio-facial syndrome | (Orphanet:2008) |
Acrocallosal syndrome | (Orphanet:36) |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | (Orphanet:217371) |
Acute infantile liver failure-multisystemic involvement syndrome | (Orphanet:370088) |
Acyl-CoA dehydrogenase 9 deficiency | (Orphanet:99901) |
Adams-Oliver syndrome | (Orphanet:974) |
Adducted thumbs - arthrogryposis, Christian type | (Orphanet:2952) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Adrenomyodystrophy | (Orphanet:977) |
Adult polyglucosan body disease | (Orphanet:206583) |
Aicardi syndrome | (Orphanet:50) |
Alexander disease | (Orphanet:58) |
Alopecia-intellectual deficit syndrome | (Orphanet:2850) |
Alpers syndrome | (Orphanet:726) |
Alpha-N-acetylgalactosaminidase deficiency | (Orphanet:3137) |
Alpha-N-acetylgalactosaminidase deficiency type 1 | (Orphanet:79279) |
Alpha-N-acetylgalactosaminidase deficiency type 3 | (Orphanet:79281) |
Alpha-crystallinopathy | (Orphanet:98910) |
Alpha-mannosidosis | (Orphanet:61) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis | (Orphanet:86818) |
Amish infantile epilepsy syndrome | (Orphanet:171714) |
Amish lethal microcephaly | (Orphanet:99742) |
Angelman syndrome | (Orphanet:72) |
Aniridia - absent patella | (Orphanet:1069) |
Aniridia - cerebellar ataxia - intellectual deficit | (Orphanet:1065) |
Aniridia - renal agenesis - psychomotor retardation | (Orphanet:1064) |
Anophthalmia/microphthalmia - esophageal atresia | (Orphanet:77298) |
Antenatal multiminicore disease with arthrogryposis multiplex congenita | (Orphanet:178148) |
Antisynthetase syndrome | (Orphanet:81) |
Aortic arch anomaly - peculiar facies - intellectual deficit | (Orphanet:1110) |
Arnold-Chiari malformation type II | (Orphanet:1136) |
Arterial tortuosity syndrome | (Orphanet:3342) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Arthrogryposis due to muscular dystrophy | (Orphanet:1155) |
Arthrogryposis multiplex congenita - whistling face | (Orphanet:1150) |
Aspartylglucosaminuria | (Orphanet:93) |
Ataxia - tapetoretinal degeneration | (Orphanet:1178) |
Ataxia-deafness-retardation syndrome | (Orphanet:1188) |
Athyreosis | (Orphanet:95713) |
Atypical Rett syndrome | (Orphanet:3095) |
Atypical hypotonia - cystinuria syndrome | (Orphanet:238523) |
Autism spectrum disorder-epilepsy-arthrogryposis syndrome | (Orphanet:370943) |
Autosomal dominant Opitz G/BBB syndrome | (Orphanet:306588) |
Autosomal dominant congenital benign spinal muscular atrophy | (Orphanet:1216) |
Autosomal dominant spastic paraplegia type 42 | (Orphanet:171863) |
Autosomal recessive ataxia due to ubiquinone deficiency | (Orphanet:139485) |
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | (Orphanet:363429) |
Autosomal recessive cerebelloparenchymal disorder type 3 | (Orphanet:1170) |
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | (Orphanet:324262) |
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 deafness-onychodystrophy syndrome | (Orphanet:79500) |
Autosomal recessive infantile hypercalcemia | (Orphanet:300547) |
Autosomal recessive limb-girdle muscular dystrophy type 2M | (Orphanet:206554) |
Autosomal recessive limb-girdle muscular dystrophy type 2S | (Orphanet:369840) |
Autosomal recessive limb-girdle muscular dystrophy type 2T | (Orphanet:363623) |
Autosomal recessive spastic paraplegia type 30 | (Orphanet:101010) |
Autosomal recessive spastic paraplegia type 49 | (Orphanet:320385) |
B4GALT1-CDG | (Orphanet:79332) |
BARAITSER-WINTER SYNDROME 1 | (OMIM:243310) |
BARTTER SYNDROME, TYPE 4A | (OMIM:602522) |
BARTTER SYNDROME, TYPE 4B | (OMIM:613090) |
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY | (OMIM:210550) |
BROWN-VIALETTO-VAN LAERE SYNDROME 2 | (OMIM:614707) |
Bannayan-Riley-Ruvalcaba syndrome | (Orphanet:109) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Beemer-Ertbruggen syndrome | (Orphanet:1237) |
Benign familial infantile seizures | (Orphanet:306) |
Beta-mannosidosis | (Orphanet:118) |
Biotinidase deficiency | (Orphanet:79241) |
Blepharophimosis - radioulnar synostosis | (Orphanet:1256) |
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency | (Orphanet:329255) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Blepharophimosis-intellectual deficit syndrome, SBBYS type | (Orphanet:3047) |
Blepharophimosis-intellectual deficit syndrome, Verloes type | (Orphanet:293725) |
Bohring-Opitz syndrome | (Orphanet:97297) |
Bone dysplasia, lethal Holmgren type | (Orphanet:1842) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
Brain malformation - congenital heart disease - postaxial polydactyly | (Orphanet:75389) |
Brain-lung-thyroid syndrome | (Orphanet:209905) |
C syndrome | (Orphanet:1308) |
CACH syndrome | (Orphanet:135) |
CAMPOMELIC DYSPLASIA | (OMIM:114290) |
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III | (OMIM:611929) |
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 1 | (OMIM:604377) |
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 2 | (OMIM:615119) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
CARDIOFACIOCUTANEOUS SYNDROME 3 | (OMIM:615279) |
CARDIOFACIOCUTANEOUS SYNDROME 4 | (OMIM:615280) |
CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:300619) |
CEDNIK syndrome | (Orphanet:66631) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 | (OMIM:224050) |
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2 | (OMIM:612900) |
CEREBROOCULOFACIOSKELETAL SYNDROME 1 | (OMIM:214150) |
CHARGE syndrome | (Orphanet:138) |
CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY | (OMIM:215510) |
CHROMOSOME 15q11.2 DELETION SYNDROME | (OMIM:615656) |
CHROMOSOME 16q22 DELETION SYNDROME | (OMIM:614541) |
CHROMOSOME 17p13.1 DELETION SYNDROME | (OMIM:613776) |
CHROMOSOME 1p32-p31 DELETION SYNDROME | (OMIM:613735) |
CHROMOSOME 5q12 DELETION SYNDROME | (OMIM:615668) |
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED | (OMIM:613544) |
CHROMOSOME Xp22 DELETION SYNDROME | (OMIM:300830) |
CK syndrome | (Orphanet:251383) |
CLN1 disease | (Orphanet:228329) |
CODAS syndrome | (Orphanet:1458) |
COENZYME Q10 DEFICIENCY, PRIMARY, 7 | (OMIM:616276) |
COFS syndrome | (Orphanet:1466) |
COG1-CDG | (Orphanet:263508) |
COG4-CDG | (Orphanet:263501) |
COG5-CDG | (Orphanet:263487) |
COG7-CDG | (Orphanet:79333) |
COG8-CDG | (Orphanet:95428) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 | (OMIM:615578) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 | (OMIM:615917) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 | (OMIM:616045) |
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY | (OMIM:616266) |
CONGENITAL DISORDER OF DEGLYCOSYLATION | (OMIM:615273) |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy | (OMIM:300934) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 | (OMIM:615763) |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | (OMIM:614437) |
CYCLIC VOMITING SYNDROME | (OMIM:500007) |
Cabezas syndrome | (Orphanet:85293) |
Campomelic dysplasia | (Orphanet:140) |
Canavan disease | (Orphanet:141) |
Carbamoylphosphate synthetase deficiency | (Orphanet:147) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Cardiomyopathy-hypotonia-lactic acidosis syndrome | (Orphanet:91130) |
Carey-Fineman-Ziter syndrome | (Orphanet:1358) |
Carnitine palmitoyl transferase 1A deficiency | (Orphanet:156) |
Carnitine uptake deficiency | (Orphanet:158) |
Carnitine-acylcarnitine translocase deficiency | (Orphanet:159) |
Cartilage-hair hypoplasia | (Orphanet:175) |
Cat-eye syndrome | (Orphanet:195) |
Cataract-congenital heart disease-neural tube defect syndrome | (Orphanet:314993) |
Central congenital hypothyroidism | (Orphanet:226298) |
Central core disease | (Orphanet:597) |
Central nervous system calcification - deafness - tubular acidosis - anemia | (Orphanet:3240) |
Centronuclear myopathy | (Orphanet:595) |
Cerebellar ataxia - hypogonadism | (Orphanet:1173) |
Cerebellar ataxia, Cayman type | (Orphanet:94122) |
Cerebellar hypoplasia - tapetoretinal degeneration | (Orphanet:2246) |
Cerebellum agenesis - hydrocephaly | (Orphanet:1397) |
Cerebro-facio-articular syndrome | (Orphanet:314679) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | (Orphanet:293955) |
Choreoacanthocytosis | (Orphanet:2388) |
Christianson syndrome | (Orphanet:85278) |
Classic maple syrup urine disease | (Orphanet:268145) |
Classic multiminicore myopathy | (Orphanet:324604) |
Cleft palate - large ears - small head | (Orphanet:2013) |
Cleft palate - short stature - vertebral anomalies | (Orphanet:2015) |
Cobblestone lissencephaly without muscular or ocular involvement | (Orphanet:352682) |
Coffin-Lowry syndrome | (Orphanet:192) |
Coffin-Siris syndrome | (Orphanet:1465) |
Cohen syndrome | (Orphanet:193) |
Cole-Carpenter syndrome | (Orphanet:2050) |
Combined immunodeficiency due to CRAC channel dysfunction | (Orphanet:169090) |
Combined immunodeficiency due to ORAI1 deficiency | (Orphanet:317428) |
Combined immunodeficiency due to STIM1 deficiency | (Orphanet:317430) |
Combined oxidative phosphorylation defect type 11 | (Orphanet:324535) |
Combined oxidative phosphorylation defect type 13 | (Orphanet:319514) |
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 2 | (Orphanet:254920) |
Combined oxidative phosphorylation defect type 7 | (Orphanet:254930) |
Combined oxidative phosphorylation deficiency type 23 | (ORPHA:444013) |
Congenital brain dysgenesis due to glutamine synthetase deficiency | (Orphanet:71278) |
Congenital cataract-hearing loss-severe developmental delay syndrome | (Orphanet:300313) |
Congenital fiber-type disproportion myopathy | (Orphanet:2020) |
Congenital hypothyroidism | (Orphanet:442) |
Congenital hypothyroidism due to developmental anomaly | (Orphanet:95711) |
Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies | (Orphanet:95715) |
Congenital lactic acidosis, Saguenay-Lac-St. Jean type | (Orphanet:70472) |
Congenital muscular dystrophy - infantile cataract - hypogonadism | (Orphanet:1875) |
Congenital muscular dystrophy due to LMNA mutation | (Orphanet:157973) |
Congenital muscular dystrophy type 1A | (Orphanet:258) |
Congenital myopathy with internal nuclei and atypical cores | (Orphanet:319160) |
Congenital or early infantile CACH syndrome | (Orphanet:157713) |
Congenital rubella syndrome | (Orphanet:290) |
Congenital toxoplasmosis | (Orphanet:858) |
Constitutional megaloblastic anemia with severe neurologic disease | (Orphanet:319651) |
Cooper-Jabs syndrome | (Orphanet:1488) |
Cornelia de Lange syndrome | (Orphanet:199) |
Costello syndrome | (Orphanet:3071) |
Craniofacial dyssynostosis | (Orphanet:1516) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
Cree leukoencephalopathy | (Orphanet:99854) |
Crigler-Najjar syndrome | (Orphanet:205) |
Cryptorchidism - arachnodactyly - intellectual deficit | (Orphanet:1548) |
Cushing syndrome | (Orphanet:553) |
Cutis laxa | (Orphanet:209) |
Cyprus facial-neuromusculoskeletal syndrome | (Orphanet:2674) |
Cystinosis | (Orphanet:213) |
Cystinuria | (Orphanet:214) |
Cystinuria type B | (Orphanet:93613) |
D-2-@HYDROXYGLUTARIC ACIDURIA 1 | (OMIM:600721) |
D-2-@HYDROXYGLUTARIC ACIDURIA 2 | (OMIM:613657) |
D-2-hydroxyglutaric aciduria | (Orphanet:79315) |
DDOST-CDG | (Orphanet:300536) |
DEND syndrome | (Orphanet:79134) |
DESBUQUOIS DYSPLASIA 1 | (OMIM:251450) |
DESBUQUOIS DYSPLASIA 2 | (OMIM:615777) |
DK1-CDG | (Orphanet:91131) |
DPAGT1-CDG | (Orphanet:86309) |
DPM1-CDG | (Orphanet:79322) |
DPM3-CDG | (Orphanet:263494) |
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT | (OMIM:128100) |
De Barsy syndrome | (Orphanet:2962) |
Dehydratase deficiency | (Orphanet:1578) |
Dejerine-Sottas syndrome | (Orphanet:64748) |
Dent disease type 2 | (Orphanet:93623) |
Dermatomyositis | (Orphanet:221) |
Desbuquois syndrome | (Orphanet:1425) |
Desmin-related myopathy with Mallory body-like inclusions | (Orphanet:84132) |
Developmental delay with autism spectrum disorder and gait instability | (Orphanet:329195) |
Diaphanospondylodysostosis | (Orphanet:66637) |
Diastrophic dwarfism | (Orphanet:628) |
Dihydropteridine reductase deficiency | (Orphanet:226) |
Dihydropyrimidine dehydrogenase deficiency | (Orphanet:1675) |
Distal 22q11.2 microduplication syndrome | (Orphanet:261337) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 19p13.3 | (Orphanet:96129) |
Distal monosomy 1q | (Orphanet:36367) |
Distal monosomy 3p | (Orphanet:1620) |
Distal monosomy 6p | (Orphanet:96125) |
Distal monosomy 7q36 | (Orphanet:1636) |
Distal monosomy 9p | (Orphanet:1642) |
Distal trisomy 15q | (Orphanet:1707) |
Down syndrome | (Orphanet:870) |
Duane anomaly - myopathy - scoliosis | (Orphanet:50817) |
Dubowitz syndrome | (Orphanet:235) |
Duchenne muscular dystrophy | (Orphanet:98896) |
Dysequilibrium syndrome | (Orphanet:1766) |
Dysmorphism - cleft palate - loose skin | (Orphanet:1779) |
Dysmorphism - multiple structural anomalies | (Orphanet:1780) |
Dysmorphism - short stature - deafness - disorder of sex development | (Orphanet:2282) |
EAST syndrome | (Orphanet:199343) |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | (OMIM:601776) |
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 | (OMIM:130070) |
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 | (OMIM:615349) |
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY | (OMIM:614520) |
ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD | (OMIM:130950) |
EPILEPSY, HOT WATER, 1 | (OMIM:613339) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 | (OMIM:614558) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 | (OMIM:614959) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 | (OMIM:615006) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | (OMIM:300672) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 | (OMIM:616056) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 | (OMIM:616139) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 | (OMIM:616339) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 | (OMIM:612164) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 | (OMIM:613477) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 | (OMIM:613720) |
Early infantile epileptic encephalopathy without suppression burst | (Orphanet:369894) |
Early-onset generalized limb-onset dystonia | (Orphanet:256) |
Ectodermal dysplasia - intellectual deficit - central nervous system malformation | (Orphanet:1812) |
Ehlers-Danlos syndrome due to tenascin-X deficiency | (Orphanet:230839) |
Ehlers-Danlos syndrome type 7A | (Orphanet:99875) |
Ehlers-Danlos syndrome type 7B | (Orphanet:99876) |
Ehlers-Danlos syndrome, arthrochalasic type | (Orphanet:1899) |
Ehlers-Danlos syndrome, classic type | (Orphanet:287) |
Ehlers-Danlos syndrome, dermatosparaxis type | (Orphanet:1901) |
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | (Orphanet:300179) |
Ehlers-Danlos syndrome, kyphoscoliotic type | (Orphanet:1900) |
Ehlers-Danlos syndrome, musculocontractural type | (Orphanet:2953) |
Ehlers-Danlos syndrome, progeroid type | (Orphanet:75496) |
Emanuel syndrome | (Orphanet:96170) |
Embryofetopathy due to oral anticoagulant therapy | (Orphanet:1914) |
Emery-Dreifuss muscular dystrophy | (Orphanet:261) |
Emery-Nelson syndrome | (Orphanet:1927) |
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria | (Orphanet:1035) |
Encephalopathy due to prosaposin deficiency | (Orphanet:139406) |
Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy,and cataracts | (OMIM:225740) |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | (Orphanet:319678) |
Epimetaphyseal skeletal dysplasia | (Orphanet:1819) |
Ermine phenotype | (Orphanet:999) |
Ethylmalonic encephalopathy | (Orphanet:51188) |
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS | (OMIM:227255) |
FANCONI RENOTUBULAR SYNDROME 2 | (OMIM:613388) |
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation | (Orphanet:1970) |
Familial benign copper deficiency | (Orphanet:1551) |
Familial dysautonomia | (Orphanet:1764) |
Familial hemophagocytic lymphohistiocytosis | (Orphanet:540) |
Familial lambdoid synostosis | (Orphanet:3267) |
Familial thyroid dyshormonogenesis | (Orphanet:95716) |
Fanconi renotubular syndrome 1 | (OMIM:134600) |
Fatal infantile cytochrome C oxidase deficiency | (Orphanet:1561) |
Fatal infantile lactic acidosis with methylmalonic aciduria | (Orphanet:17) |
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | (Orphanet:168566) |
Fetal Gaucher disease | (Orphanet:85212) |
Fetal akinesia-cerebral and retinal hemorrhage syndrome | (Orphanet:363409) |
Fetal methylmercury syndrome | (Orphanet:1917) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Fragile X syndrome | (Orphanet:908) |
Free sialic acid storage disease | (Orphanet:834) |
Free sialic acid storage disease, infantile form | (Orphanet:309324) |
Fried syndrome | (Orphanet:85335) |
Fructose-1,6-bisphosphatase deficiency | (Orphanet:348) |
Fryns-Smeets-Thiry syndrome | (Orphanet:2058) |
Fucosidosis | (Orphanet:349) |
Fumaric aciduria | (Orphanet:24) |
GCS1-CDG | (Orphanet:79330) |
GLYCOGEN STORAGE DISEASE IXc | (OMIM:613027) |
GM1 gangliosidosis | (Orphanet:354) |
GM2-gangliosidosis, AB variant | (Orphanet:309246) |
GRACILE syndrome | (Orphanet:53693) |
Galactose epimerase deficiency | (Orphanet:79238) |
Galactosemia | (Orphanet:352) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Gaucher disease | (Orphanet:355) |
Genitopatellar syndrome | (Orphanet:85201) |
German syndrome | (Orphanet:2077) |
Geroderma osteodysplastica | (Orphanet:2078) |
Glutaryl-CoA dehydrogenase deficiency | (Orphanet:25) |
Glycine encephalopathy | (Orphanet:407) |
Glycogen storage disease due to acid maltase deficiency | (Orphanet:365) |
Glycogen storage disease due to acid maltase deficiency, infantile onset | (Orphanet:308552) |
Glycogen storage disease due to glucose-6-phosphatase deficiency | (Orphanet:364) |
Glycogen storage disease due to glycogen branching enzyme deficiency | (Orphanet:367) |
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form | (Orphanet:308712) |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form | (Orphanet:308684) |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form | (Orphanet:308698) |
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | (Orphanet:308670) |
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form | (Orphanet:308655) |
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form | (Orphanet:308638) |
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form | (Orphanet:308621) |
Glycogen storage disease due to glycogen debranching enzyme deficiency | (Orphanet:366) |
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | (Orphanet:79240) |
Glycogen storage disease due to phosphorylase kinase deficiency | (Orphanet:370) |
Goldberg-Shprintzen megacolon syndrome | (Orphanet:66629) |
Goldenhar syndrome | (Orphanet:374) |
Grant syndrome | (Orphanet:2097) |
Griscelli disease | (Orphanet:381) |
Griscelli disease type 1 | (Orphanet:79476) |
Grubben-de Cock-Borghgraef syndrome | (Orphanet:2101) |
Gómez-López-Hernández syndrome | (Orphanet:1532) |
HELSMOORTEL-VAN DER AA SYNDROME | (OMIM:615873) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 | (OMIM:267700) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 | (OMIM:603553) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 | (OMIM:603552) |
HOLOPROSENCEPHALY 2 | (OMIM:157170) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 | (OMIM:239300) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 | (OMIM:614749) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 | (OMIM:614207) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 | (OMIM:615716) |
Haddad syndrome | (Orphanet:99803) |
Hartnup syndrome | (Orphanet:2116) |
Hawkinsinuria | (Orphanet:2118) |
Hennekam-Beemer syndrome | (Orphanet:2135) |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | (Orphanet:137681) |
Hereditary folate malabsorption | (Orphanet:90045) |
Hereditary hypophosphatemic rickets with hypercalciuria | (Orphanet:157215) |
Hereditary myopathy with lactic acidosis due to ISCU deficiency | (Orphanet:43115) |
Hereditary sensory and autonomic neuropathy type 2 | (Orphanet:970) |
Holocarboxylase synthetase deficiency | (Orphanet:79242) |
Holoprosencephaly | (Orphanet:2162) |
Holoprosencephaly - craniosynostosis | (Orphanet:2163) |
Holoprosencephaly - postaxial polydactyly | (Orphanet:2166) |
Homocystinuria without methylmalonic aciduria | (Orphanet:622) |
Hot water reflex epilepsy | (Orphanet:166412) |
Hurler syndrome | (Orphanet:93473) |
Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency | (Orphanet:71212) |
Hyperlysinemia, type I | (OMIM:238700) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hyperornithinemia-hyperammonemia-homocitrullinuria | (Orphanet:415) |
Hyperphosphatasia-intellectual deficiency syndrome | (Orphanet:247262) |
Hyperprolinemia type 1 | (Orphanet:419) |
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | (Orphanet:363694) |
Hypocalcemic vitamin D-dependent rickets | (Orphanet:289157) |
Hypocalcemic vitamin D-resistant rickets | (Orphanet:93160) |
Hypomyelination neuropathy - arthrogryposis | (Orphanet:2680) |
Hypophosphatasia | (Orphanet:436) |
Hypospadias - intellectual deficit, Goldblatt type | (Orphanet:2261) |
Hypothyroidism due to TSH receptor mutations | (Orphanet:90673) |
Hypothyroidism due to deficient transcription factors involved in pituitary development or function | (Orphanet:226307) |
Hypotonia - cystinuria syndrome | (Orphanet:163690) |
Hypotonia - failure to thrive - microcephaly | (Orphanet:79507) |
Hypotonia with lactic acidemia and hyperammonemia | (Orphanet:137908) |
IMAGe syndrome | (Orphanet:85173) |
IMMUNODEFICIENCY 23 | (OMIM:615816) |
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 1 | (OMIM:167320) |
Ichthyosis follicularis - alopecia - photophobia | (Orphanet:2273) |
Idiopathic congenital hypothyroidism | (Orphanet:95717) |
Incontinentia pigmenti | (Orphanet:464) |
Infant botulism | (Orphanet:178478) |
Infantile Bartter syndrome with deafness | (Orphanet:89938) |
Infantile Refsum disease | (Orphanet:772) |
Infantile axonal neuropathy | (Orphanet:2679) |
Infantile cerebellar-retinal degeneration | (Orphanet:313850) |
Infantile hypophosphatasia | (Orphanet:247651) |
Infantile neuroaxonal dystrophy | (Orphanet:35069) |
Infantile onset spinocerebellar ataxia | (Orphanet:1186) |
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia | (Orphanet:284332) |
Intellectual deficiency - hypotonia - spasticity - sleep disorder | (Orphanet:356996) |
Intellectual deficit - balding - patella luxation - acromicria | (Orphanet:3041) |
Intellectual deficit - cataracts - calcified pinnae - myopathy | (Orphanet:3042) |
Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus | (Orphanet:3044) |
Intellectual deficit - hypotonia - skin hyperpigmentation | (Orphanet:3050) |
Intellectual deficit, Birk-Barel type | (Orphanet:166108) |
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures | (Orphanet:1568) |
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy | (Orphanet:2958) |
Intellectual deficit, X-linked - seizures - psoriasis | (Orphanet:3052) |
Intellectual deficit, X-linked, Cantagrel type | (Orphanet:85277) |
Intellectual deficit, X-linked, Kroes type | (Orphanet:163961) |
Intellectual deficit, X-linked, Snyder type | (Orphanet:3063) |
Intellectual deficit, X-linked, Stevenson type | (Orphanet:85325) |
Intellectual disability-developmental delay-contractures syndrome | (Orphanet:3454) |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | (Orphanet:363611) |
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome | (Orphanet:369837) |
Intellectual disability-strabismus syndrome | (Orphanet:363528) |
Intermittent maple syrup urine disease | (Orphanet:268173) |
Intestinal botulism | (Orphanet:178481) |
Isobutyryl-CoA dehydrogenase deficiency | (Orphanet:79159) |
Isolated 3-methylcrotonyl-CoA carboxylase deficiency | (Orphanet:6) |
Isolated ATP synthase deficiency | (Orphanet:254913) |
Isolated CoQ-cytochrome C reductase deficiency | (Orphanet:1460) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
Isolated cerebellar hypoplasia/agenesis | (Orphanet:1398) |
Isolated cytochrome C oxidase deficiency | (Orphanet:254905) |
Isolated glycerol kinase deficiency | (Orphanet:408) |
Isolated spina bifida | (Orphanet:823) |
Isolated sulfite oxidase deficiency | (Orphanet:99731) |
Isolated thyroid-stimulating hormone deficiency | (Orphanet:90674) |
Isotretinoin syndrome | (Orphanet:2305) |
Ito hypomelanosis | (Orphanet:435) |
Johanson-Blizzard syndrome | (Orphanet:2315) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome 1 | (OMIM:213300) |
Joubert syndrome 14 | (OMIM:614424) |
Joubert syndrome 15 | (OMIM:614464) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome 21 | (OMIM:615636) |
Joubert syndrome 3 | (OMIM:608629) |
Joubert syndrome 5 | (OMIM:610188) |
Joubert syndrome 6 | (OMIM:610688) |
Joubert syndrome 8 | (OMIM:612291) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
Joubert syndrome with oculorenal defect | (Orphanet:2318) |
Joubert syndrome with orofaciodigital defect | (Orphanet:2754) |
Joubert syndrome with renal defect | (Orphanet:220497) |
Jung-Wolff-Back-Stahl syndrome | (Orphanet:2321) |
Juvenile dermatomyositis | (Orphanet:93672) |
Juvenile or adult CACH syndrome | (Orphanet:157719) |
KABUKI SYNDROME 1 | (OMIM:147920) |
KABUKI SYNDROME 2 | (OMIM:300867) |
KAGAMI-OGATA SYNDROME | (OMIM:608149) |
KETOADIPICACIDURIA | (OMIM:245130) |
Kabuki syndrome | (Orphanet:2322) |
Kaler-Garrity-Stern syndrome | (Orphanet:2324) |
Kallmann syndrome | (Orphanet:478) |
Kearns-Sayre syndrome | (Orphanet:480) |
Kennedy disease | (Orphanet:481) |
Kleefstra syndrome | (Orphanet:261494) |
Kleefstra syndrome due to 9q34 microdeletion | (Orphanet:96147) |
Koolen-De Vries syndrome | (Orphanet:96169) |
Krabbe disease | (Orphanet:487) |
Kyphomelic dysplasia | (Orphanet:1801) |
L-2-hydroxyglutaric aciduria | (Orphanet:79314) |
LESCH-NYHAN SYNDROME | (OMIM:300322) |
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 | (OMIM:616286) |
LETHAL CONGENITAL CONTRACTURE SYNDROME 8 | (OMIM:616287) |
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA | (OMIM:608809) |
Lambert syndrome | (Orphanet:1296) |
Langer-Giedion syndrome | (Orphanet:502) |
Larsen-like osseous dysplasia - short stature | (Orphanet:2370) |
Laryngeal abductor paralysis - intellectual deficit | (Orphanet:2375) |
Late infantile CACH syndrome | (Orphanet:157716) |
Lateral meningocele syndrome | (Orphanet:2789) |
Lathosterolosis | (Orphanet:46059) |
Laurin-Sandrow syndrome | (Orphanet:2378) |
Leber congenital amaurosis | (Orphanet:65) |
Leber plus disease | (Orphanet:99718) |
Legius syndrome | (Orphanet:137605) |
Leigh syndrome | (Orphanet:506) |
Leigh syndrome with leukodystrophy | (Orphanet:255241) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Lesch-Nyhan syndrome | (Orphanet:510) |
Lethal Kniest-like dysplasia | (Orphanet:2347) |
Lethal Larsen-like syndrome | (Orphanet:2371) |
Lethal ataxia with deafness and optic atrophy | (Orphanet:1187) |
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect | (Orphanet:330050) |
Lethal hemolytic anemia - genital anomalies | (Orphanet:1046) |
Lethal recessive chondrodysplasia | (Orphanet:1423) |
Leukocyte adhesion deficiency | (Orphanet:2968) |
Leukocyte adhesion deficiency type II | (Orphanet:99843) |
Linear nevus sebaceus syndrome | (Orphanet:2612) |
Lissencephaly due to TUBA1A mutation | (Orphanet:171680) |
Lissencephaly type 1 due to doublecortin gene mutation | (Orphanet:2148) |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | (Orphanet:5) |
Low birth weight - dwarfism - dysgammaglobulinemia | (Orphanet:2621) |
Lysinuric protein intolerance | (Orphanet:470) |
MACS syndrome | (Orphanet:217335) |
MEDNIK syndrome | (Orphanet:171851) |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,WITH OR WITHOUT MENTAL RETARDATION | (OMIM:613926) |
MEGDEL syndrome | (Orphanet:352328) |
MEHMO syndrome | (Orphanet:85282) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 | (OMIM:614562) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 | (OMIM:614563) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 16 | (OMIM:614609) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 | (OMIM:615075) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 | (OMIM:616158) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | (OMIM:616268) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | (OMIM:612621) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 | (OMIM:614340) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 | (OMIM:615637) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 | (OMIM:616116) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 | (OMIM:616193) |
MENTAL RETARDATION, X-LINKED 19 | (OMIM:300844) |
MENTAL RETARDATION, X-LINKED 90 | (OMIM:300850) |
MENTAL RETARDATION, X-LINKED 93 | (OMIM:300659) |
MENTAL RETARDATION, X-LINKED 99 | (OMIM:300919) |
MERRF | (Orphanet:551) |
METACHROMATIC LEUKODYSTROPHY | (OMIM:250100) |
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY | (OMIM:249900) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III | (OMIM:210730) |
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY | (OMIM:615760) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
MICROPHTHALMIA, SYNDROMIC 9 | (OMIM:601186) |
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA | (OMIM:608624) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 | (OMIM:615159) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 | (OMIM:615838) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 | (OMIM:616111) |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 | (OMIM:604273) |
MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE) | (OMIM:615418) |
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) | (OMIM:613662) |
MITOCHONDRIAL MYOPATHY | (OMIM:251900) |
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY | (OMIM:614741) |
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY | (OMIM:616277) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
MPDU1-CDG | (Orphanet:79323) |
MPI-CDG | (Orphanet:79319) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 | (OMIM:253800) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 | (OMIM:614643) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8 | (OMIM:614830) |
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, 6 | (OMIM:608840) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),TYPE B, 4 | (OMIM:613152) |
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:616326) |
MYASTHENIC SYNDROME, CONGENITAL, 13 | (OMIM:614750) |
MYASTHENIC SYNDROME, CONGENITAL, 14 | (OMIM:616228) |
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL | (OMIM:608930) |
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL | (OMIM:616313) |
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:616314) |
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL | (OMIM:616321) |
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL | (OMIM:616322) |
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:616323) |
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL | (OMIM:616324) |
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:608931) |
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:616325) |
MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA | (OMIM:255140) |
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT | (OMIM:160800) |
Malignant hyperthermia - arthrogryposis - torticollis | (Orphanet:2215) |
Malonic aciduria | (Orphanet:943) |
Mandibuloacral dysplasia | (Orphanet:2457) |
Mandibuloacral dysplasia with type A lipodystrophy | (Orphanet:90153) |
Maple syrup urine disease | (Orphanet:511) |
Marden-Walker syndrome | (Orphanet:2461) |
Marfan syndrome | (Orphanet:558) |
Marfanoid habitus - intellectual deficit, autosomal recessive | (Orphanet:2463) |
Marinesco-Sjögren syndrome | (Orphanet:559) |
Marshall-Smith syndrome | (Orphanet:561) |
Maternal hyperthermia induced birth defects | (Orphanet:2216) |
Maternally-inherited diabetes and deafness | (Orphanet:225) |
Matthew-Wood syndrome | (Orphanet:2470) |
Medium chain acyl-CoA dehydrogenase deficiency | (Orphanet:42) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Menkes disease | (Orphanet:565) |
Metachromatic leukodystrophy | (Orphanet:512) |
Methylcobalamin deficiency type cblDv1 | (Orphanet:308380) |
Methylcobalamin deficiency type cblE | (Orphanet:2169) |
Methylcobalamin deficiency type cblG | (Orphanet:2170) |
Methylmalonic acidemia with homocystinuria | (Orphanet:26) |
Methylmalonic acidemia with homocystinuria, type cblC | (Orphanet:79282) |
Methylmalonic acidemia with homocystinuria, type cblD | (Orphanet:79283) |
Methylmalonic acidemia with homocystinuria, type cblF | (Orphanet:79284) |
Methylmalonic acidemia with homocystinuria, type cblJ | (Orphanet:369955) |
Methylmalonic acidemia with homocystinuria, type cblX | (Orphanet:369962) |
Methylmalonic acidemia without homocystinuria | (Orphanet:293355) |
Mevalonic aciduria | (Orphanet:29) |
Micro syndrome | (Orphanet:2510) |
Microbrachycephaly - ptosis - cleft lip | (Orphanet:2511) |
Microcephalic primordial dwarfism, Toriello type | (Orphanet:2643) |
Microcephaly - cardiac defect - lung malsegmentation | (Orphanet:2516) |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | (Orphanet:217026) |
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-capillary malformation syndrome | (Orphanet:294016) |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | (Orphanet:329332) |
Microlissencephaly - micromelia | (Orphanet:50810) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Mitochondrial DNA deletion syndrome with progressive myopathy | (Orphanet:352470) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy | (Orphanet:255235) |
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 DNA depletion syndrome, myopathic form | (Orphanet:254875) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | (Orphanet:314637) |
Mitochondrial myopathy - lactic acidosis - deafness | (Orphanet:2597) |
Mitochondrial myopathy and sideroblastic anemia | (Orphanet:2598) |
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | (Orphanet:254864) |
Mitochondrial trifunctional protein deficiency | (Orphanet:746) |
Moebius syndrome | (Orphanet:570) |
Monosomy 13q14 | (Orphanet:1587) |
Monosomy 18p | (Orphanet:1598) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 22q13 | (Orphanet:48652) |
Monosomy 5p | (Orphanet:281) |
Monosomy 9p | (Orphanet:261112) |
Monosomy 9q22.3 | (Orphanet:77301) |
Mosaic trisomy 15 | (Orphanet:1706) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Mucolipidosis type 4 | (Orphanet:578) |
Mucopolysaccharidosis type 7 | (Orphanet:584) |
Mulibrey nanism | (Orphanet:2576) |
Mullerian derivatives - lymphangiectasia - polydactyly | (Orphanet:1655) |
Multiple acyl-CoA dehydrogenase deficiency | (Orphanet:26791) |
Multiple carboxylase deficiency | (Orphanet:148) |
Multiple congenital anomalies - hypotonia - seizures syndrome | (Orphanet:280633) |
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | (Orphanet:300496) |
Multiple endocrine neoplasia type 2 | (Orphanet:653) |
Multiple endocrine neoplasia type 2B | (Orphanet:247709) |
Multiple sulfatase deficiency | (Orphanet:585) |
Muscle-eye-brain disease | (Orphanet:588) |
Muscular dystrophy - white matter spongiosis | (Orphanet:1877) |
Myoclonus-dystonia syndrome | (Orphanet:36899) |
Myopathy and diabetes mellitus | (Orphanet:2596) |
Myopathy due to myoadenylate deaminase deficiency | (OMIM:615511) |
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 | (OMIM:600462) |
NEMALINE MYOPATHY 4 | (OMIM:609285) |
NEMALINE MYOPATHY 6 | (OMIM:609273) |
NEMALINE MYOPATHY 7 | (OMIM:610687) |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A | (OMIM:256600) |
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET | (OMIM:616263) |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB | (OMIM:607641) |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA | (OMIM:201300) |
NIEMANN-PICK DISEASE, TYPE C1 | (OMIM:257220) |
NIEMANN-PICK DISEASE, TYPE C2 | (OMIM:607625) |
NOONAN SYNDROME 7 | (OMIM:613706) |
Navajo neurohepatopathy | (Orphanet:255229) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
Neonatal severe primary hyperparathyroidism | (Orphanet:417) |
Neuhauser-Eichner-Opitz syndrome | (Orphanet:2672) |
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | (Orphanet:88639) |
Neuroectodermal melanolysosomal disease | (Orphanet:33445) |
Neurofaciodigitorenal syndrome | (Orphanet:2673) |
Neurologic Waardenburg-Shah syndrome | (Orphanet:163746) |
Neurological conditions associated with aminoacylase 1 deficiency | (Orphanet:137754) |
Neuronal ceroid lipofuscinosis | (Orphanet:216) |
Neutral lipid storage myopathy | (Orphanet:98908) |
Niemann-Pick disease type A | (Orphanet:77292) |
Non-distal monosomy 10q | (Orphanet:1581) |
Non-polyposis Turcot syndrome | (Orphanet:99817) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
Noonan syndrome | (Orphanet:648) |
Noonan syndrome with multiple lentigines | (Orphanet:500) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
Norrie disease | (Orphanet:649) |
OROFACIODIGITAL SYNDROME VI | (OMIM:277170) |
OSTEOGENESIS IMPERFECTA, TYPE XIII | (OMIM:614856) |
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA | (OMIM:615198) |
Occipital horn syndrome | (Orphanet:198) |
Oculo-reno-cerebellar syndrome | (Orphanet:2715) |
Oculocerebrofacial syndrome, Kaufman type | (Orphanet:2707) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Okamoto syndrome | (Orphanet:2729) |
Omphalocele syndrome, Shprintzen-Goldberg type | (Orphanet:3164) |
Ondine syndrome | (Orphanet:661) |
Opitz G/BBB syndrome | (Orphanet:2745) |
Opsismodysplasia | (Orphanet:2746) |
Ornithine transcarbamylase deficiency | (Orphanet:664) |
Orofaciodigital syndrome type 3 | (Orphanet:2752) |
Osteocraniostenosis | (Orphanet:2763) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
Osteoporosis - pseudoglioma | (Orphanet:2788) |
Ovarioleukodystrophy | (Orphanet:99853) |
Oxoglutaricaciduria | (Orphanet:31) |
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS | (OMIM:600399) |
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) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) | (OMIM:214110) |
PEROXISOME BIOGENESIS DISORDER 3B | (OMIM:266510) |
PHACE syndrome | (Orphanet:42775) |
PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES | (OMIM:602196) |
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 | (OMIM:613038) |
PMM2-CDG | (Orphanet:79318) |
POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY | (OMIM:611087) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A | (OMIM:607596) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | (OMIM:614678) |
PORETTI-BOLTSHAUSER SYNDROME | (OMIM:615960) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2 | (OMIM:609283) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 | (OMIM:610131) |
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM | (OMIM:614501) |
Paternal 20q13.2q13.3 microdeletion syndrome | (Orphanet:261304) |
Pearson syndrome | (Orphanet:699) |
Pectus excavatum - macrocephaly - dysplastic nails | (Orphanet:2835) |
Pelizaeus-Merzbacher disease | (Orphanet:702) |
Pelizaeus-Merzbacher-like due to HSPD1 mutation | (Orphanet:280288) |
Pellagra-like skin rash-neurological manifestations | (Orphanet:2837) |
Pentasomy X | (Orphanet:11) |
Perinatal lethal hypophosphatasia | (Orphanet:247623) |
Peripheral hypothyroidism | (Orphanet:226310) |
Peripheral resistance to thyroid hormones | (Orphanet:97927) |
Perlman syndrome | (Orphanet:2849) |
Permanent congenital hypothyroidism | (Orphanet:226292) |
Permanent neonatal diabetes mellitus | (Orphanet:99885) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Perrault Syndrome 1 | (OMIM:233400) |
Phosphoribosylpyrophosphate synthetase superactivity | (Orphanet:3222) |
Piebaldism | (Orphanet:2884) |
Pierson syndrome | (Orphanet:2670) |
Pili torti - developmental delay - neurological abnormalities | (Orphanet:2891) |
Pitt-Hopkins syndrome | (Orphanet:2896) |
Pitt-Hopkins-like syndrome 2 | (OMIM:614325) |
Polymyositis | (Orphanet:732) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
Pontocerebellar hypoplasia type 1 | (Orphanet:2254) |
Pontocerebellar hypoplasia type 6 | (Orphanet:166073) |
Pontocerebellar hypoplasia type 7 | (Orphanet:284339) |
Pontocerebellar hypoplasia type 8 | (Orphanet:324569) |
Pontocerebellar hypoplasia, type 9 | (OMIM:615809) |
Porphyria due to ALA dehydratase deficiency | (Orphanet:100924) |
Potocki-Shaffer syndrome | (Orphanet:52022) |
Prader-Willi syndrome | (Orphanet:739) |
Primary CD59 deficiency | (Orphanet:169464) |
Primary congenital hypothyroidism | (Orphanet:226295) |
Primary congenital hypothyroidism without thyroid developmental anomaly | (Orphanet:95714) |
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome | (Orphanet:306558) |
Progressive myoclonic epilepsy with dystonia | (Orphanet:352596) |
Proximal 16p11.2 microdeletion syndrome | (Orphanet:261197) |
Proximal spinal muscular atrophy | (Orphanet:70) |
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia | (Orphanet:3390) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Pterygium colli - intellectual deficit - digital anomalies | (Orphanet:2988) |
Purine nucleoside phosphorylase deficiency | (Orphanet:760) |
Pyridoxine-dependent epilepsy | (Orphanet:3006) |
Pyruvate dehydrogenase E1-alpha deficiency | (Orphanet:79243) |
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) |
Pyruvate dehydrogenase phosphatase deficiency | (Orphanet:79246) |
Qazi-Markouizos syndrome | (Orphanet:3010) |
RFT1-CDG | (Orphanet:244310) |
Radio-ulnar synostosis - intellectual deficit - hypotonia | (Orphanet:3270) |
Recombinant 8 syndrome | (Orphanet:96167) |
Refsum disease | (Orphanet:773) |
Renal tubulopathy - encephalopathy - liver failure | (Orphanet:254902) |
Resistance to thyrotropin-releasing hormone syndrome | (Orphanet:99832) |
Rhizomelic chondrodysplasia punctata type 2 | (Orphanet:309796) |
Riboflavin transporter deficiency | (Orphanet:97229) |
Rigid spine syndrome | (Orphanet:97244) |
Ring chromosome 10 | (Orphanet:1438) |
Roifman syndrome | (Orphanet:353298) |
Rosaï-Dorfman disease | (Orphanet:158014) |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | (Orphanet:353281) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY | (OMIM:614800) |
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY | (OMIM:616084) |
SLC35A2-CDG | (Orphanet:356961) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 | (OMIM:616127) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 | (OMIM:616204) |
SPONASTRIME dysplasia | (Orphanet:93357) |
SRD5A3-CDG | (Orphanet:324737) |
STIFF SKIN SYNDROME | (OMIM:184900) |
STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL | (OMIM:500003) |
STT3A-CDG | (Orphanet:370921) |
STT3B-CDG | (Orphanet:370924) |
Salla disease | (Orphanet:309334) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Severe Canavan disease | (Orphanet:314911) |
Severe X-linked mitochondrial encephalomyopathy | (Orphanet:238329) |
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia | (Orphanet:94066) |
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency | (Orphanet:35123) |
Short chain acyl-CoA dehydrogenase deficiency | (Orphanet:26792) |
Short stature - heart defect - craniofacial anomalies | (Orphanet:1088) |
Short stature - valvular heart disease - characteristic facies | (Orphanet:2868) |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | (Orphanet:314394) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Sialidosis type 1 | (Orphanet:812) |
Simpson-Golabi-Behmel syndrome | (Orphanet:373) |
Simpson-Golabi-Behmel syndrome type 2 | (Orphanet:79022) |
Singleton-Merten dysplasia | (Orphanet:85191) |
Sjögren-Larsson syndrome | (Orphanet:816) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Smith-Magenis syndrome | (Orphanet:819) |
Sotos syndrome | (Orphanet:821) |
Spastic diplegia, infantile type | (Orphanet:1680) |
Spinocerebellar ataxia - dysmorphism | (Orphanet:1185) |
Spinocerebellar ataxia type 1 | (Orphanet:98755) |
Spinocerebellar ataxia type 13 | (Orphanet:98768) |
Spinocerebellar ataxia type 2 | (Orphanet:98756) |
Spinocerebellar ataxia type 5 | (Orphanet:98766) |
Spondylo-ocular syndrome | (Orphanet:85194) |
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification | (Orphanet:93358) |
Spondyloepimetaphyseal dysplasia with joint laxity | (Orphanet:93359) |
Spondyloepimetaphyseal dysplasia with multiple dislocations | (Orphanet:93360) |
Spondyloepimetaphyseal dysplasia, Geneviève type | (Orphanet:168454) |
Spondyloepiphyseal dysplasia congenita | (Orphanet:94068) |
Spondylometaphyseal dysplasia, Sedaghatian type | (Orphanet:93317) |
Sporadic Leigh syndrome | (Orphanet:255199) |
Steinert myotonic dystrophy | (Orphanet:273) |
Sternal malformation - vascular dysplasia | (Orphanet:3195) |
Stickler syndrome | (Orphanet:828) |
Stüve-Wiedemann syndrome | (Orphanet:3206) |
Symptomatic form of Coffin-Lowry syndrome in female carriers | (Orphanet:276630) |
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | (Orphanet:206546) |
Synaptic congenital myasthenic syndromes | (Orphanet:98915) |
Syndromic microphthalmia type 5 | (Orphanet:178364) |
TARP syndrome | (Orphanet:2886) |
TEMPLE SYNDROME | (OMIM:616222) |
TEMPLE-BARAITSER SYNDROME | (OMIM:611816) |
TENORIO SYNDROME | (OMIM:616260) |
TMCO1 defect syndrome | (Orphanet:228407) |
TMEM165-CDG | (Orphanet:314667) |
TRICHORRHEXIS NODOSA SYNDROME | (OMIM:275550) |
Tay-Sachs disease | (Orphanet:845) |
Tel Hashomer camptodactyly syndrome | (Orphanet:3292) |
Temtamy syndrome | (Orphanet:1777) |
Tetrasomy 12p | (Orphanet:884) |
Tetrasomy X | (Orphanet:9) |
Thanatophoric dysplasia type 1 | (Orphanet:1860) |
Thanatophoric dysplasia type 2 | (Orphanet:93274) |
Thiamine-responsive maple syrup urine disease | (Orphanet:268184) |
Thoracic dysplasia-hydrocephalus syndrome | (Orphanet:1861) |
Thrombocytopenia - Robin sequence | (Orphanet:3323) |
Thyroid ectopia | (Orphanet:95712) |
Thyroid hemiagenesis | (Orphanet:95719) |
Thyroid hypoplasia | (Orphanet:95720) |
Timothy syndrome | (Orphanet:65283) |
Toluene embryopathy | (Orphanet:1920) |
Toriello-Carey syndrome | (Orphanet:3338) |
Toriello-Lacassie-Droste syndrome | (Orphanet:3339) |
Transient congenital hypothyroidism | (Orphanet:178045) |
Trichorhinophalangeal syndrome type 1 and 3 | (Orphanet:77258) |
Trigonocephaly - bifid nose - acral anomalies | (Orphanet:3368) |
Triose phosphate-isomerase deficiency | (Orphanet:868) |
Triple A syndrome | (Orphanet:869) |
Trisomy 13 | (Orphanet:3378) |
Trisomy 17p | (Orphanet:261290) |
Trisomy 18 | (Orphanet:3380) |
Trisomy 20p | (Orphanet:261318) |
Trisomy 4p | (Orphanet:1738) |
Trisomy X | (Orphanet:3375) |
Tyrosinemia type 3 | (Orphanet:69723) |
Ulna hypoplasia - intellectual deficit | (Orphanet:2249) |
VAN MALDERGEM SYNDROME 1 | (OMIM:601390) |
VAN MALDERGEM SYNDROME 2 | (OMIM:615546) |
VELOCARDIOFACIAL SYNDROME | (OMIM:192430) |
VISCERAL STEATOSIS, CONGENITAL | (OMIM:228100) |
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A | (OMIM:264700) |
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B | (OMIM:600081) |
VITAMIN D-DEPENDENT RICKETS, TYPE 2A | (OMIM:277440) |
Van Regemorter-Pierquin-Vamos syndrome | (Orphanet:3419) |
Very long chain acyl-CoA dehydrogenase deficiency | (Orphanet:26793) |
Vici syndrome | (Orphanet:1493) |
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay | (Orphanet:73246) |
Vitamin B12-responsive methylmalonic acidemia | (Orphanet:28) |
Vitamin B12-responsive methylmalonic acidemia type cblA | (Orphanet:79310) |
Vitamin B12-responsive methylmalonic acidemia type cblB | (Orphanet:79311) |
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | (Orphanet:308442) |
Vitamin B12-unresponsive methylmalonic acidemia | (Orphanet:27) |
Vitamin B12-unresponsive methylmalonic acidemia type mut- | (Orphanet:79312) |
Vitamin B12-unresponsive methylmalonic acidemia type mut0 | (Orphanet:289916) |
WARBURG MICRO SYNDROME 1 | (OMIM:600118) |
Waardenburg-Shah syndrome | (Orphanet:897) |
Walker-Warburg syndrome | (Orphanet:899) |
Warsaw breakage syndrome | (Orphanet:280558) |
Weaver syndrome | (Orphanet:3447) |
White matter hypoplasia - corpus callosum agenesis - intellectual deficit | (Orphanet:3207) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
Wiedemann-Steiner syndrome | (Orphanet:319182) |
Williams syndrome | (Orphanet:904) |
Wilson-Turner syndrome | (Orphanet:3459) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked Emery-Dreifuss muscular dystrophy | (Orphanet:98863) |
X-linked centronuclear myopathy | (Orphanet:596) |
X-linked creatine transporter deficiency | (Orphanet:52503) |
X-linked distal arthrogryposis multiplex congenita | (Orphanet:1145) |
X-linked intellectual deficit - cerebellar hypoplasia | (Orphanet:137831) |
X-linked intellectual deficit with marfanoid habitus | (Orphanet:776) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked lissencephaly with abnormal genitalia | (Orphanet:452) |
X-linked neurodegenerative syndrome, Bertini type | (Orphanet:85334) |
X-linked sideroblastic anemia - ataxia | (Orphanet:2802) |
X-linked spinocerebellar ataxia type 3 | (Orphanet:85297) |
XIA-GIBBS SYNDROME | (OMIM:615829) |
XYLOSIDASE DEFICIENCY | (OMIM:278900) |
Xq27.3q28 duplication syndrome | (Orphanet:261483) |
Yunis-Varon syndrome | (Orphanet:3472) |
Zellweger syndrome | (Orphanet:912) |
Zellweger-like syndrome without peroxisomal anomalies | (Orphanet:50812) |
Zimmermann-Laband syndrome | (Orphanet:3473) |
Zunich-Kaye syndrome | (Orphanet:3474) |
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 | (OMIM:208085) |
[DEL] COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 | (OMIM:616198) |
[DEL] LEIGH SYNDROME, X-LINKED | (OMIM:308930) |
[DEL] SENGERS SYNDROME | (OMIM:212350) |