DNA and Cytogenetics Diagnostics Unit (Erasmus Medical Center)

General information

DNA and Cytogenetics Diagnostics Unit
Erasmus Medical Center
Wytemaweg 80
Rotterdam
Zuid-Holland
Netherlands - 3015GE
http://www.erasmusmc.nl
Organization ID: 506497

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1473

Gene

GeneSubmissionsLast Updated
ABCG51Apr 9, 2018
ABHD121Apr 9, 2018
ACTN22Apr 9, 2018
ACVR2B6Apr 9, 2018
ADA2Apr 9, 2018
ADAM91Apr 9, 2018
AGA3Apr 9, 2018
AKAP93Apr 9, 2018
ALDH18A11Apr 9, 2018
ALDH3A21Apr 9, 2018
ALDH5A11Apr 9, 2018
ALDH7A11Apr 9, 2018
ALG12Apr 9, 2018
ALG61Apr 9, 2018
ALK13Apr 9, 2018
AMH2Apr 9, 2018
AMHR21Apr 9, 2018
ANK22Apr 9, 2018
ANKRD15Apr 9, 2018
ANKRD111Apr 9, 2018
ANO105Apr 9, 2018
ANO31Apr 9, 2018
AP4B11Apr 9, 2018
AP4B1-AS11Apr 9, 2018
AP4E13Apr 9, 2018
ARFGEF21Apr 9, 2018
ARHGEF102Apr 9, 2018
ARID1B1Apr 9, 2018
ARL13B2Apr 9, 2018
ASPM11Apr 9, 2018
ATCAY1Apr 9, 2018
ATM15Apr 9, 2018
ATN11Apr 9, 2018
ATXN13Apr 9, 2018
B3GALNT21Apr 9, 2018
B3GAT31Apr 9, 2018
B4GALT71Apr 9, 2018
B9D21Apr 9, 2018
BBS14Apr 9, 2018
BBS103Apr 9, 2018
BBS1213Apr 9, 2018
BBS26Apr 9, 2018
BBS74Apr 9, 2018
BBS96Apr 9, 2018
BCKDHA1Apr 9, 2018
BIVM-ERCC517Apr 9, 2018
BLOC1S61Apr 9, 2018
BRCA192Apr 9, 2018
BRCA2200Apr 9, 2018
C11orf656Apr 9, 2018
C19orf122Apr 9, 2018
C1QA1Apr 9, 2018
C1QB1Apr 9, 2018
C8orf372Apr 9, 2018
C91Apr 9, 2018
CABP41Apr 9, 2018
CACNA1D1Apr 9, 2018
CACNA2D44Apr 9, 2018
CALR314Apr 9, 2018
CAMK11Apr 9, 2018
CAPN51Apr 9, 2018
CASQ211Apr 9, 2018
CC2D1A1Apr 9, 2018
CCM24Apr 9, 2018
CD3E1Apr 9, 2018
CD461Apr 9, 2018
CDHR14Apr 9, 2018
CDK5RAP25Apr 9, 2018
CDKN1B1Apr 9, 2018
CEP1642Apr 9, 2018
CERKL6Apr 9, 2018
CHST31Apr 9, 2018
CNGB14Apr 9, 2018
COCH1Apr 9, 2018
COL18A110Apr 9, 2018
COQ8A7Apr 9, 2018
CPLANE113Apr 9, 2018
CPOX2Apr 9, 2018
CPS110Apr 9, 2018
CSF1R9Apr 9, 2018
CSTB1Apr 9, 2018
CTSD6Apr 9, 2018
CTSF4Apr 9, 2018
CUBN1Apr 9, 2018
CYP27A15Apr 9, 2018
CYP2B61Apr 9, 2018
DBT1Apr 9, 2018
DDC1Apr 9, 2018
DEPDC51Apr 9, 2018
DHCR73Apr 9, 2018
DIAPH11Apr 9, 2018
DLAT3Apr 9, 2018
DNAAF12Apr 9, 2018
DNAAF25Apr 9, 2018
DNAAF35Apr 9, 2018
DOCK61Apr 9, 2018
DPYD1Apr 9, 2018
DSC221Apr 9, 2018
DSCAS1Apr 9, 2018
DST7Apr 9, 2018
DUOX25Apr 9, 2018
DYNC2LI11Apr 9, 2018
EFEMP27Apr 9, 2018
EPG51Apr 9, 2018
ERCC517Apr 9, 2018
ESR23Apr 9, 2018
ETFB1Apr 9, 2018
EYS15Apr 9, 2018
FA2H3Apr 9, 2018
FAM161A2Apr 9, 2018
FANCA2Apr 9, 2018
FAS2Apr 9, 2018
FBN217Apr 9, 2018
FBXO75Apr 9, 2018
FERMT32Apr 9, 2018
FGF142Apr 9, 2018
FLVCR16Apr 9, 2018
FOLR11Apr 9, 2018
FOXE13Apr 9, 2018
FOXG11Apr 9, 2018
FSCN23Apr 9, 2018
GALNS3Apr 9, 2018
GCDH2Apr 9, 2018
GIGYF27Apr 9, 2018
GLRB1Apr 9, 2018
GNAT21Apr 9, 2018
GNPTG2Apr 9, 2018
GNS2Apr 9, 2018
GPR1798Apr 9, 2018
GRIN2A2Apr 9, 2018
GRIN2B3Apr 9, 2018
GRK11Apr 9, 2018
GRM63Apr 9, 2018
GUSB1Apr 9, 2018
HARS11Apr 9, 2018
HEXB1Apr 9, 2018
HGF1Apr 9, 2018
HGSNAT2Apr 9, 2018
HLCS1Apr 9, 2018
HPS42Apr 9, 2018
HPS51Apr 9, 2018
HRC2Apr 9, 2018
IFNGR22Apr 9, 2018
IFT14011Apr 9, 2018
IL10RA3Apr 9, 2018
IL12RB12Apr 9, 2018
INS1Apr 9, 2018
INVS4Apr 9, 2018
ITCH1Apr 9, 2018
ITK1Apr 9, 2018
JAK31Apr 9, 2018
JAM32Apr 9, 2018
JPH216Apr 9, 2018
JPH32Apr 9, 2018
KARS12Apr 9, 2018
KCNA11Apr 9, 2018
KCNC34Apr 9, 2018
KCNJ81Apr 9, 2018
KCNMA12Apr 9, 2018
KCNMA1-AS11Apr 9, 2018
KCNQ31Apr 9, 2018
KIF111Apr 9, 2018
KIF5A2Apr 9, 2018
KIFBP2Apr 9, 2018
KMT2D1Apr 9, 2018
KRIT14Apr 9, 2018
KRT6B1Apr 9, 2018
LAMA418Apr 9, 2018
LARS21Apr 9, 2018
LARS2-AS11Apr 9, 2018
LMF11Apr 9, 2018
LOC1001307983Apr 9, 2018
LOC1005060711Apr 9, 2018
LOC1053710463Apr 9, 2018
LOC1053722731Apr 9, 2018
LOC1073033431Apr 9, 2018
LOC1086604051Apr 9, 2018
LOC1086639931Apr 9, 2018
LOC1086639961Apr 9, 2018
LOC1090295362Apr 9, 2018
LOC1094614841Apr 9, 2018
LOC1101214271Apr 9, 2018
LOC1111881541Apr 9, 2018
LOC1148278502Apr 9, 2018
LOC1170387951Apr 9, 2018
LOXHD11Apr 9, 2018
LPIN24Apr 9, 2018
LRBA2Apr 9, 2018
LRIT31Apr 9, 2018
LRMDA1Apr 9, 2018
LRRC61Apr 9, 2018
LYST9Apr 9, 2018
MAF1Apr 9, 2018
MAK1Apr 9, 2018
MAP2K21Apr 9, 2018
MAP3K17Apr 9, 2018
MCM41Apr 9, 2018
MCPH19Apr 9, 2018
MCPH1-AS15Apr 9, 2018
MED175Apr 9, 2018
MGAT21Apr 9, 2018
MIB111Apr 9, 2018
MLH12Apr 9, 2018
MOCS11Apr 9, 2018
MRE111Apr 9, 2018
MSH219Apr 9, 2018
MSH622Apr 9, 2018
MTPAP2Apr 9, 2018
MTTP5Apr 9, 2018
MUS811Apr 9, 2018
MYBPC362Apr 9, 2018
MYH1125Apr 9, 2018
MYL29Apr 9, 2018
MYL34Apr 9, 2018
MYOZ29Apr 9, 2018
MYPN33Apr 9, 2018
NAGLU5Apr 9, 2018
NDE113Apr 9, 2018
NEFH8Apr 9, 2018
NEK18Apr 9, 2018
NIPBL1Apr 9, 2018
NLRP122Apr 9, 2018
NLRP71Apr 9, 2018
NMNAT11Apr 9, 2018
NPC117Apr 9, 2018
OCLN1Apr 9, 2018
OGG11Apr 9, 2018
OTOGL1Apr 9, 2018
PAH6Apr 9, 2018
PCARE5Apr 9, 2018
PCNT22Apr 9, 2018
PDE6C3Apr 9, 2018
PDGFB3Apr 9, 2018
PDSS11Apr 9, 2018
PDYN2Apr 9, 2018
PDYN-AS12Apr 9, 2018
PHYH6Apr 9, 2018
PIK3R25Apr 9, 2018
PKHD12Apr 9, 2018
PKP230Apr 9, 2018
PLA2G51Apr 9, 2018
PLCB11Apr 9, 2018
PLG1Apr 9, 2018
PMM21Apr 9, 2018
PMS218Apr 9, 2018
PNKD1Apr 9, 2018
PNKP9Apr 9, 2018
PNPLA62Apr 9, 2018
POLH1Apr 9, 2018
PPP2R2B1Apr 9, 2018
PRKCG8Apr 9, 2018
PRKRA1Apr 9, 2018
PRPF311Apr 9, 2018
PSENEN1Apr 9, 2018
RAD211Apr 9, 2018
RAD501Apr 9, 2018
RFXAP1Apr 9, 2018
RIMS11Apr 9, 2018
RNASEH2A2Apr 9, 2018
RNASEH2C4Apr 9, 2018
RNASET22Apr 9, 2018
RNF1701Apr 9, 2018
SACS7Apr 9, 2018
SALL14Apr 9, 2018
SAR1B1Apr 9, 2018
SBDS1Apr 9, 2018
SEC631Apr 9, 2018
SGSH9Apr 9, 2018
SH3BP21Apr 9, 2018
SHANK23Apr 9, 2018
SIL11Apr 9, 2018
SIX61Apr 9, 2018
SLC19A18Apr 9, 2018
SLC19A33Apr 9, 2018
SLC20A29Apr 9, 2018
SLC29A31Apr 9, 2018
SLC2A106Apr 9, 2018
SLC46A11Apr 9, 2018
SLC6A37Apr 9, 2018
SMARCAL11Apr 9, 2018
SNAP292Apr 9, 2018
SP1101Apr 9, 2018
SPG116Apr 9, 2018
SPG74Apr 9, 2018
SPINK52Apr 9, 2018
SPRED11Apr 9, 2018
SPTBN23Apr 9, 2018
SQSTM16Apr 9, 2018
STAT31Apr 9, 2018
SYNE24Apr 9, 2018
SYNGAP12Apr 9, 2018
SYT142Apr 9, 2018
TARDBP1Apr 9, 2018
TBK11Apr 9, 2018
TBP1Apr 9, 2018
TBX203Apr 9, 2018
TBX51Apr 9, 2018
TCIRG11Apr 9, 2018
TCN21Apr 9, 2018
TCTN25Apr 9, 2018
TEAD11Apr 9, 2018
TGFB21Apr 9, 2018
TGM65Apr 9, 2018
TH7Apr 9, 2018
TMEM126A1Apr 9, 2018
TMEM1381Apr 9, 2018
TMEM2371Apr 9, 2018
TMPO3Apr 9, 2018
TNFRSF13C1Apr 9, 2018
TNNI35Apr 9, 2018
TPP15Apr 9, 2018
TREM23Apr 9, 2018
TRIOBP1Apr 9, 2018
TRPM42Apr 9, 2018
TTC7A1Apr 9, 2018
TTPA2Apr 9, 2018
TUBGCP63Apr 9, 2018
TYROBP1Apr 9, 2018
UCHL11Apr 9, 2018
UNC93B11Apr 9, 2018
UNG1Apr 9, 2018
UPB11Apr 9, 2018
VANGL14Apr 9, 2018
VCAN4Apr 9, 2018
VCAN-AS13Apr 9, 2018
VPS13B14Apr 9, 2018
WDPCP3Apr 9, 2018
WDR627Apr 9, 2018
WWOX1Apr 9, 2018
ZDHHC243Apr 9, 2018
ZFYVE262Apr 9, 2018
ZFYVE271Apr 9, 2018
ZNF2761Apr 9, 2018
ZNF4233Apr 9, 2018
ZNF4692Apr 9, 2018

Condition

NameSubmissionsLast Updated
46,XY sex reversal, type 67Apr 9, 2018
ALG1-CDG2Apr 9, 2018
Abetalipoproteinaemia5Apr 9, 2018
Achromatopsia 41Apr 9, 2018
Acne inversa, familial, 21Apr 9, 2018
Adams-Oliver syndrome 21Apr 9, 2018
Aicardi Goutieres syndrome 34Apr 9, 2018
Aicardi Goutieres syndrome 42Apr 9, 2018
Albinism, oculocutaneous, type VII1Apr 9, 2018
Amyotrophic lateral sclerosis type 18Apr 9, 2018
Amyotrophic lateral sclerosis type 101Apr 9, 2018
Aortic aneurysm, familial thoracic 425Apr 9, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 1121Apr 9, 2018
Arrhythmogenic right ventricular dysplasia 930Apr 9, 2018
Arterial tortuosity syndrome6Apr 9, 2018
Aspartylglucosaminuria3Apr 9, 2018
Ataxia, sensory, autosomal dominant1Apr 9, 2018
Ataxia, spastic, 4, autosomal recessive2Apr 9, 2018
Ataxia-telangiectasia syndrome15Apr 9, 2018
Ataxia-telangiectasia-like disorder 11Apr 9, 2018
Atrial septal defect 43Apr 9, 2018
Atypical hemolytic-uremic syndrome 21Apr 9, 2018
Autism 173Apr 9, 2018
Autoimmune disease, syndromic multisystem1Apr 9, 2018
Autoimmune lymphoproliferative syndrome2Apr 9, 2018
Autosomal recessive DOPA responsive dystonia7Apr 9, 2018
Autosomal recessive cutis laxa type 1B7Apr 9, 2018
Autosomal recessive osteopetrosis 11Apr 9, 2018
Autosomal recessive polycystic kidney disease2Apr 9, 2018
Bamforth-Lazarus syndrome3Apr 9, 2018
Bardet-Biedl syndrome 139Apr 9, 2018
Bare lymphocyte syndrome 21Apr 9, 2018
Benign familial neonatal seizures 21Apr 9, 2018
Biotin-responsive basal ganglia disease3Apr 9, 2018
Breast-ovarian cancer, familial 192Apr 9, 2018
Breast-ovarian cancer, familial 2200Apr 9, 2018
Brittle cornea syndrome 12Apr 9, 2018
C1q deficiency2Apr 9, 2018
CEDNIK syndrome2Apr 9, 2018
Cardiac arrhythmia, ankyrin B-related2Apr 9, 2018
Cardiofaciocutaneous syndrome 41Apr 9, 2018
Cerebellar ataxia, Cayman type1Apr 9, 2018
Cerebral cavernous malformation4Apr 9, 2018
Cerebral cavernous malformations 24Apr 9, 2018
Cerebral folate transport deficiency1Apr 9, 2018
Ceroid lipofuscinosis neuronal 25Apr 9, 2018
Ceroid lipofuscinosis, neuronal, 134Apr 9, 2018
Charcot-Marie-Tooth disease, recessive intermediate B2Apr 9, 2018
Charlevoix-Saguenay spastic ataxia7Apr 9, 2018
Cholestanol storage disease5Apr 9, 2018
Chylomicron retention disease1Apr 9, 2018
Chédiak-Higashi syndrome9Apr 9, 2018
Ciliary dyskinesia, primary, 105Apr 9, 2018
Ciliary dyskinesia, primary, 132Apr 9, 2018
Ciliary dyskinesia, primary, 191Apr 9, 2018
Ciliary dyskinesia, primary, 25Apr 9, 2018
Coenzyme Q10 deficiency, primary, 21Apr 9, 2018
Coenzyme Q10 deficiency, primary, 47Apr 9, 2018
Coffin-Siris syndrome 11Apr 9, 2018
Cohen syndrome14Apr 9, 2018
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1Apr 9, 2018
Common variable immunodeficiency 41Apr 9, 2018
Common variable immunodeficiency 8, with autoimmunity2Apr 9, 2018
Complement component 9 deficiency1Apr 9, 2018
Cone dystrophy 43Apr 9, 2018
Cone-rod dystrophy 154Apr 9, 2018
Cone-rod dystrophy 162Apr 9, 2018
Cone-rod dystrophy 71Apr 9, 2018
Cone-rod dystrophy 91Apr 9, 2018
Congenital contractural arachnodactyly17Apr 9, 2018
Congenital defect of folate absorption1Apr 9, 2018
Congenital disorder of glycosylation type 1C1Apr 9, 2018
Congenital disorder of glycosylation, type Ia1Apr 9, 2018
Congenital hyperammonemia, type I10Apr 9, 2018
Congenital stationary night blindness, type 1B3Apr 9, 2018
Congenital stationary night blindness, type 1E8Apr 9, 2018
Congenital stationary night blindness, type 1F1Apr 9, 2018
Congenital stationary night blindness, type 2B1Apr 9, 2018
Congenital total pulmonary venous return anomaly5Apr 9, 2018
Cornelia de Lange syndrome 11Apr 9, 2018
Cornelia de Lange syndrome 41Apr 9, 2018
Cutis laxa, autosomal recessive IIIA1Apr 9, 2018
Deafness, autosomal dominant 11Apr 9, 2018
Deafness, autosomal dominant 91Apr 9, 2018
Deafness, autosomal recessive 281Apr 9, 2018
Deafness, autosomal recessive 391Apr 9, 2018
Deafness, autosomal recessive 771Apr 9, 2018
Deafness, autosomal recessive 84b1Apr 9, 2018
Deficiency of aromatic-L-amino-acid decarboxylase1Apr 9, 2018
Deficiency of beta-ureidopropionase1Apr 9, 2018
Dentatorubral-pallidoluysian atrophy1Apr 9, 2018
Dermatofibrosarcoma protuberans3Apr 9, 2018
Dihydropyrimidine dehydrogenase deficiency1Apr 9, 2018
Dilated cardiomyopathy 1AA2Apr 9, 2018
Dilated cardiomyopathy 1JJ18Apr 9, 2018
Dilated cardiomyopathy 1KK33Apr 9, 2018
Dilated cardiomyopathy 1T3Apr 9, 2018
Disseminated atypical mycobacterial infection4Apr 9, 2018
Dystonia 161Apr 9, 2018
Dystonia 241Apr 9, 2018
Early infantile epileptic encephalopathy 109Apr 9, 2018
Early infantile epileptic encephalopathy 121Apr 9, 2018
Efavirenz response1Apr 9, 2018
Ehlers-Danlos syndrome progeroid type1Apr 9, 2018
Emery-Dreifuss muscular dystrophy 5, autosomal dominant4Apr 9, 2018
Epilepsy, familial focal, with variable foci 11Apr 9, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation2Apr 9, 2018
Episodic ataxia type 11Apr 9, 2018
Familial cold autoinflammatory syndrome 22Apr 9, 2018
Familial hypertrophic cardiomyopathy 109Apr 9, 2018
Familial hypertrophic cardiomyopathy 169Apr 9, 2018
Familial hypertrophic cardiomyopathy 1716Apr 9, 2018
Familial hypertrophic cardiomyopathy 1914Apr 9, 2018
Familial hypertrophic cardiomyopathy 462Apr 9, 2018
Familial hypertrophic cardiomyopathy 84Apr 9, 2018
Familial isolated deficiency of vitamin E2Apr 9, 2018
Fanconi anemia, complementation group A2Apr 9, 2018
Fibrous dysplasia of jaw1Apr 9, 2018
Fleck retina, familial benign1Apr 9, 2018
Glaucoma 1, open angle, p1Apr 9, 2018
Glutaric aciduria, type 12Apr 9, 2018
Goldberg-Shprintzen megacolon syndrome2Apr 9, 2018
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts2Apr 9, 2018
Hepatic veno-occlusive disease-immunodeficiency syndrome1Apr 9, 2018
Hereditary coproporphyria2Apr 9, 2018
Hereditary diffuse leukoencephalopathy with spheroids9Apr 9, 2018
Hereditary nonpolyposis colorectal cancer type 418Apr 9, 2018
Hereditary nonpolyposis colorectal cancer type 522Apr 9, 2018
Hereditary spastic paraplegia 102Apr 9, 2018
Hereditary spastic paraplegia 152Apr 9, 2018
Hereditary spastic paraplegia 392Apr 9, 2018
Hereditary spastic paraplegia 74Apr 9, 2018
Hermansky-Pudlak syndrome 42Apr 9, 2018
Hermansky-Pudlak syndrome 51Apr 9, 2018
Hermansky-Pudlak syndrome 91Apr 9, 2018
Herpes simplex encephalitis 11Apr 9, 2018
Heterotaxy, visceral, 4, autosomal6Apr 9, 2018
Heterotopia, periventricular, autosomal recessive1Apr 9, 2018
Histiocytosis-lymphadenopathy plus syndrome1Apr 9, 2018
Holocarboxylase synthetase deficiency1Apr 9, 2018
Holt-Oram syndrome1Apr 9, 2018
Huntington disease-like 22Apr 9, 2018
Hydatidiform mole, recurrent, 11Apr 9, 2018
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1Apr 9, 2018
Hyper-IgM syndrome type 51Apr 9, 2018
Hyperekplexia 21Apr 9, 2018
Idiopathic basal ganglia calcification 19Apr 9, 2018
Imerslund-Gräsbeck syndrome1Apr 9, 2018
Immunodeficiency 181Apr 9, 2018
Infantile nephronophthisis4Apr 9, 2018
Inflammatory bowel disease 28, autosomal recessive3Apr 9, 2018
Joubert syndrome 141Apr 9, 2018
Joubert syndrome 161Apr 9, 2018
Joubert syndrome 1713Apr 9, 2018
Joubert syndrome 82Apr 9, 2018
KBG syndrome1Apr 9, 2018
Kabuki syndrome 11Apr 9, 2018
Knobloch syndrome 110Apr 9, 2018
Leber congenital amaurosis 91Apr 9, 2018
Left ventricular noncompaction 711Apr 9, 2018
Legius syndrome1Apr 9, 2018
Leukocyte adhesion deficiency, type III2Apr 9, 2018
Leukoencephalopathy, cystic, without megalencephaly2Apr 9, 2018
Lipase deficiency, combined1Apr 9, 2018
Loeys-Dietz syndrome 41Apr 9, 2018
Long QT syndrome 113Apr 9, 2018
Lymphoproliferative syndrome 11Apr 9, 2018
Lynch syndrome I19Apr 9, 2018
Lynch syndrome II2Apr 9, 2018
Majeed syndrome4Apr 9, 2018
Malignant tumor of esophagus1Apr 9, 2018
Maple syrup urine disease2Apr 9, 2018
Marinesco-Sjögren syndrome1Apr 9, 2018
Meckel syndrome type 85Apr 9, 2018
Meckel syndrome, type 101Apr 9, 2018
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 15Apr 9, 2018
Mental retardation, autosomal dominant 52Apr 9, 2018
Mental retardation, autosomal dominant 63Apr 9, 2018
Mental retardation, autosomal recessive 31Apr 9, 2018
Microcephalic osteodysplastic primordial dwarfism type II22Apr 9, 2018
Microcephaly and chorioretinopathy, autosomal recessive, 13Apr 9, 2018
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1Apr 9, 2018
Microcephaly, postnatal progressive, with seizures and brain atrophy5Apr 9, 2018
Molybdenum cofactor deficiency, complementation group A1Apr 9, 2018
Mucolipidosis type III gamma2Apr 9, 2018
Mucopolysaccharidosis type 71Apr 9, 2018
Mucopolysaccharidosis, MPS-III-A9Apr 9, 2018
Mucopolysaccharidosis, MPS-III-B5Apr 9, 2018
Mucopolysaccharidosis, MPS-III-C2Apr 9, 2018
Mucopolysaccharidosis, MPS-III-D2Apr 9, 2018
Mucopolysaccharidosis, MPS-IV-A3Apr 9, 2018
Multiple acyl-CoA dehydrogenase deficiency1Apr 9, 2018
Multiple endocrine neoplasia, type 41Apr 9, 2018
Multiple gastrointestinal atresias1Apr 9, 2018
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1Apr 9, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111Apr 9, 2018
Natural killer cell and glucocorticoid deficiency with DNA repair defect1Apr 9, 2018
Nephronophthisis 143Apr 9, 2018
Nephronophthisis 152Apr 9, 2018
Netherton syndrome2Apr 9, 2018
Neuroblastoma 313Apr 9, 2018
Neurodegeneration with brain iron accumulation 42Apr 9, 2018
Neuronal ceroid lipofuscinosis 106Apr 9, 2018
Neuropathy, hereditary sensory and autonomic, type VI7Apr 9, 2018
Niemann-Pick disease type C117Apr 9, 2018
Nijmegen breakage syndrome-like disorder1Apr 9, 2018
Oguchi disease 21Apr 9, 2018
Optic atrophy 71Apr 9, 2018
Pachyonychia congenita 21Apr 9, 2018
Paget disease of bone 2, early-onset6Apr 9, 2018
Parkinson disease 117Apr 9, 2018
Parkinson disease 155Apr 9, 2018
Parkinson disease 51Apr 9, 2018
Parkinsonism-dystonia, infantile, 17Apr 9, 2018
Paroxysmal nonkinesigenic dyskinesia 11Apr 9, 2018
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy2Apr 9, 2018
Perrault syndrome 41Apr 9, 2018
Persistent Mullerian duct syndrome3Apr 9, 2018
Phenylketonuria6Apr 9, 2018
Phytanic acid storage disease6Apr 9, 2018
Plasminogen deficiency, type I1Apr 9, 2018
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 14Apr 9, 2018
Polycystic liver disease 11Apr 9, 2018
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1Apr 9, 2018
Posterior column ataxia-retinitis pigmentosa syndrome6Apr 9, 2018
Primary autosomal recessive microcephaly 19Apr 9, 2018
Primary autosomal recessive microcephaly 27Apr 9, 2018
Primary autosomal recessive microcephaly 35Apr 9, 2018
Primary autosomal recessive microcephaly 511Apr 9, 2018
Progressive familial heart block type IB2Apr 9, 2018
Pseudo-TORCH syndrome 11Apr 9, 2018
Pyridoxine-dependent epilepsy1Apr 9, 2018
Pyruvate dehydrogenase E2 deficiency3Apr 9, 2018
Renal cell carcinoma, nonpapillary1Apr 9, 2018
Retinal cone dystrophy 44Apr 9, 2018
Retinitis pigmentosa 111Apr 9, 2018
Retinitis pigmentosa 2515Apr 9, 2018
Retinitis pigmentosa 266Apr 9, 2018
Retinitis pigmentosa 282Apr 9, 2018
Retinitis pigmentosa 303Apr 9, 2018
Retinitis pigmentosa 454Apr 9, 2018
Retinitis pigmentosa 545Apr 9, 2018
Retinitis pigmentosa 621Apr 9, 2018
Rett syndrome, congenital variant1Apr 9, 2018
SUDDEN INFANT DEATH SYNDROME1Apr 9, 2018
Saldino-Mainzer syndrome11Apr 9, 2018
Sandhoff disease1Apr 9, 2018
Schimke immuno-osseous dysplasia1Apr 9, 2018
Severe combined immunodeficiency due to ADA deficiency2Apr 9, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative1Apr 9, 2018
Short rib-polydactyly syndrome, Majewski type8Apr 9, 2018
Shwachman-Diamond syndrome 11Apr 9, 2018
Sinoatrial node dysfunction and deafness1Apr 9, 2018
Sitosterolemia1Apr 9, 2018
Sjögren-Larsson syndrome1Apr 9, 2018
Slowed nerve conduction velocity, autosomal dominant2Apr 9, 2018
Smith-Lemli-Opitz syndrome3Apr 9, 2018
Spastic paraplegia 11, autosomal recessive6Apr 9, 2018
Spastic paraplegia 33, autosomal dominant1Apr 9, 2018
Spastic paraplegia 353Apr 9, 2018
Spastic paraplegia 47, autosomal recessive1Apr 9, 2018
Spastic paraplegia 51, autosomal recessive3Apr 9, 2018
Spinocerebellar ataxia 355Apr 9, 2018
Spinocerebellar ataxia type 13Apr 9, 2018
Spinocerebellar ataxia type 121Apr 9, 2018
Spinocerebellar ataxia type 134Apr 9, 2018
Spinocerebellar ataxia type 148Apr 9, 2018
Spinocerebellar ataxia type 171Apr 9, 2018
Spinocerebellar ataxia type 232Apr 9, 2018
Spinocerebellar ataxia type 272Apr 9, 2018
Spinocerebellar ataxia type 53Apr 9, 2018
Spinocerebellar ataxia, autosomal recessive 105Apr 9, 2018
Spinocerebellar ataxia, autosomal recessive 112Apr 9, 2018
Spondyloepiphyseal dysplasia with congenital joint dislocations1Apr 9, 2018
Succinate-semialdehyde dehydrogenase deficiency1Apr 9, 2018
Sveinsson chorioretinal atrophy1Apr 9, 2018
Thyroid dyshormonogenesis 65Apr 9, 2018
Townes-Brocks syndrome 14Apr 9, 2018
Transcolabamin II deficiency1Apr 9, 2018
Unverricht-Lundborg syndrome1Apr 9, 2018
Usher syndrome, type 3B1Apr 9, 2018
Ventricular tachycardia, catecholaminergic polymorphic, 211Apr 9, 2018
Vici syndrome1Apr 9, 2018
Vitreoretinopathy, neovascular inflammatory1Apr 9, 2018
Wagner syndrome4Apr 9, 2018
Xeroderma pigmentosum variant type1Apr 9, 2018
Xeroderma pigmentosum, group G17Apr 9, 2018
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