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OLLIN Analises Genomicas (OLLIN)

General information

OLLIN Analises Genomicas
OLLIN
Bom Sucesso, 220
Sao Paulo
Sao Paulo
Brazil - 27816
https://www.ollin.com.br/
Organization ID: 510370

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 401

Gene

GeneSubmissionsLast Updated
ABCA31Mar 19, 2026
ABCA44Mar 19, 2026
ABCB43Mar 19, 2026
ABCC62Mar 19, 2026
ABCD11Mar 19, 2026
ACADM1Mar 19, 2026
ACADVL1Mar 19, 2026
ACTG21Mar 19, 2026
ADGRG11Mar 19, 2026
ADK1Mar 19, 2026
AGPAT21Mar 19, 2026
AHDC11Mar 19, 2026
ALDH5A12Mar 19, 2026
ALMS11Mar 19, 2026
ALPL1Mar 19, 2026
AMT1Mar 19, 2026
ANKH1Mar 19, 2026
ANKRD111Mar 19, 2026
ANO101Mar 19, 2026
ANO52Mar 19, 2026
AP4B11Mar 19, 2026
AP4B1-AS11Mar 19, 2026
AP4S11Mar 19, 2026
APOE1Mar 19, 2026
ARFGEF11Mar 19, 2026
ARID1A2Mar 19, 2026
ARID1B1Mar 19, 2026
ARSA1Mar 19, 2026
ATP13A21Mar 19, 2026
ATP1A21Mar 19, 2026
ATP2B11Mar 19, 2026
ATP6V1A1Mar 19, 2026
ATP7B3Mar 19, 2026
ATP9A1Mar 19, 2026
AURKC1Mar 19, 2026
AUTS21Mar 19, 2026
AVIL1Mar 19, 2026
AVPR21Mar 19, 2026
B4GALNT11Mar 19, 2026
BAP11Mar 19, 2026
BARD12Mar 19, 2026
BBS11Mar 19, 2026
BCHE1Mar 19, 2026
BCS1L2Mar 19, 2026
BLOC1S1-RDH51Mar 19, 2026
BRCA15Mar 19, 2026
BRCA26Mar 19, 2026
BRIP11Mar 19, 2026
BTD1Mar 19, 2026
C1R1Mar 19, 2026
C1orf1051Mar 19, 2026
CACNA1D1Mar 19, 2026
CACNA1G2Mar 19, 2026
CAMTA11Mar 19, 2026
CAPN31Mar 19, 2026
CC2D1A1Mar 19, 2026
CCDC401Mar 19, 2026
CD3G1Mar 19, 2026
CDH231Mar 19, 2026
CDKL51Mar 19, 2026
CDKN2A1Mar 19, 2026
CEP831Mar 19, 2026
CERKL2Mar 19, 2026
CETP1Mar 19, 2026
CFAP3001Mar 19, 2026
CFTR2Mar 19, 2026
CFTR-AS11Mar 19, 2026
CHD11Mar 19, 2026
CHD21Mar 19, 2026
CHD41Mar 19, 2026
CHD51Mar 19, 2026
CHD81Mar 19, 2026
CHEK22Mar 19, 2026
CHRNA11Mar 19, 2026
CHST141Mar 19, 2026
CIC2Mar 19, 2026
CLCN11Mar 19, 2026
CLCN41Mar 19, 2026
CLCN61Mar 19, 2026
CNGA31Mar 19, 2026
COL11A21Mar 19, 2026
COL13A11Mar 19, 2026
COL18A11Mar 19, 2026
COL1A21Mar 19, 2026
COL4A21Mar 19, 2026
COL4A2-AS11Mar 19, 2026
COL4A51Mar 19, 2026
COL7A11Mar 19, 2026
COLQ1Mar 19, 2026
CPLANE13Mar 19, 2026
CPT21Mar 19, 2026
CREBBP2Mar 19, 2026
CSNK2A11Mar 19, 2026
CSPP11Mar 19, 2026
CTCF1Mar 19, 2026
CTSA1Mar 19, 2026
CUL72Mar 19, 2026
CYBB1Mar 19, 2026
CYLD-AS11Mar 19, 2026
CYP21A21Mar 19, 2026
DBNL1Mar 19, 2026
DCN1Mar 19, 2026
DHCR72Mar 19, 2026
DICER11Mar 19, 2026
DNAH52Mar 19, 2026
DNM11Mar 19, 2026
DPH11Mar 19, 2026
DSC21Mar 19, 2026
DSG21Mar 19, 2026
DUOX22Mar 19, 2026
EARS21Mar 19, 2026
EP3002Mar 19, 2026
EPS8L21Mar 19, 2026
ERCC81Mar 19, 2026
EXOSC91Mar 19, 2026
EYS1Mar 19, 2026
F81Mar 19, 2026
FANCA1Mar 19, 2026
FBN12Mar 19, 2026
FBN21Mar 19, 2026
FBXO111Mar 19, 2026
FECH1Mar 19, 2026
FGF121Mar 19, 2026
FGFR21Mar 19, 2026
FGFR31Mar 19, 2026
FH1Mar 19, 2026
FLNB1Mar 19, 2026
FN11Mar 19, 2026
FPGT-TNNI3K1Mar 19, 2026
FZD51Mar 19, 2026
GABBR11Mar 19, 2026
GALC2Mar 19, 2026
GALT1Mar 19, 2026
GAMT1Mar 19, 2026
GCDH1Mar 19, 2026
GCK1Mar 19, 2026
GDF51Mar 19, 2026
GFAP1Mar 19, 2026
GH-LCR1Mar 19, 2026
GIGYF21Mar 19, 2026
GLI31Mar 19, 2026
GLRB1Mar 19, 2026
GLUD11Mar 19, 2026
GNE1Mar 19, 2026
GNG12-AS11Mar 19, 2026
GRIA11Mar 19, 2026
HBB1Mar 19, 2026
HDAC81Mar 19, 2026
HEXA1Mar 19, 2026
HFE2Mar 19, 2026
HFE-AS11Mar 19, 2026
HINT11Mar 19, 2026
HNRNPU1Mar 19, 2026
HOGA11Mar 19, 2026
HSD17B41Mar 19, 2026
HUWE11Mar 19, 2026
IARS11Mar 19, 2026
IDUA1Mar 19, 2026
INTS111Mar 19, 2026
JMJD81Mar 19, 2026
KANK21Mar 19, 2026
KARS11Mar 19, 2026
KCNA21Mar 19, 2026
KCNMA11Mar 19, 2026
KCNV21Mar 19, 2026
KIAA05861Mar 19, 2026
KMT2A4Mar 19, 2026
KMT2B1Mar 19, 2026
KMT2C1Mar 19, 2026
KMT2D2Mar 19, 2026
KMT2E2Mar 19, 2026
LAMA21Mar 19, 2026
LDLR1Mar 19, 2026
LIPA1Mar 19, 2026
LOC1001307441Mar 19, 2026
LOC1060990621Mar 19, 2026
LOC1067808001Mar 19, 2026
LOC1071335101Mar 19, 2026
LOC1153081611Mar 19, 2026
LOC1218530131Mar 19, 2026
LOC1268064991Mar 19, 2026
LOC1268076191Mar 19, 2026
LOC1268613581Mar 19, 2026
LOC1268618961Mar 19, 2026
LOC1268625712Mar 19, 2026
LOC1268631581Mar 19, 2026
LOC1299352141Mar 19, 2026
LOC1299983431Mar 19, 2026
LOC1300050801Mar 19, 2026
LOC1300609941Mar 19, 2026
LZTR11Mar 19, 2026
MAP1B1Mar 19, 2026
MAP2K11Mar 19, 2026
MAPK11Mar 19, 2026
MECOM1Mar 19, 2026
MECP21Mar 19, 2026
MED131Mar 19, 2026
MED161Mar 19, 2026
MEI11Mar 19, 2026
MHRT1Mar 19, 2026
MITF1Mar 19, 2026
MMACHC2Mar 19, 2026
MMUT1Mar 19, 2026
MPI1Mar 19, 2026
MPL1Mar 19, 2026
MSH32Mar 19, 2026
MSH61Mar 19, 2026
MT-ND11Mar 19, 2026
MTO11Mar 19, 2026
MTOR1Mar 19, 2026
MUTYH1Mar 19, 2026
MVK1Mar 19, 2026
MVP-DT1Mar 19, 2026
MYBPC34Mar 19, 2026
MYH61Mar 19, 2026
MYH71Mar 19, 2026
MYO5B1Mar 19, 2026
MYO7A2Mar 19, 2026
NARS11Mar 19, 2026
NDUFS81Mar 19, 2026
NEDD4L1Mar 19, 2026
NF16Mar 19, 2026
NIPBL3Mar 19, 2026
NOD21Mar 19, 2026
NOTCH11Mar 19, 2026
NOTCH32Mar 19, 2026
NPHS22Mar 19, 2026
NSD11Mar 19, 2026
NTHL11Mar 19, 2026
OBSL11Mar 19, 2026
OCA21Mar 19, 2026
OTULIN1Mar 19, 2026
PACS21Mar 19, 2026
PAH6Mar 19, 2026
PANK21Mar 19, 2026
PAPSS21Mar 19, 2026
PCDH192Mar 19, 2026
PCLO1Mar 19, 2026
PDE6C1Mar 19, 2026
PDX11Mar 19, 2026
PEPD1Mar 19, 2026
PGAM21Mar 19, 2026
PGAP31Mar 19, 2026
PHKA22Mar 19, 2026
PIGC1Mar 19, 2026
PIGT1Mar 19, 2026
PITRM11Mar 19, 2026
PJVK1Mar 19, 2026
PKD14Mar 19, 2026
PKHD12Mar 19, 2026
PKLR1Mar 19, 2026
PLXNA11Mar 19, 2026
PLXNB3-AS11Mar 19, 2026
PNPLA11Mar 19, 2026
POC1B1Mar 19, 2026
POC1B-DUSP61Mar 19, 2026
POLR1B1Mar 19, 2026
POLR1C1Mar 19, 2026
POLR3B1Mar 19, 2026
POLRMT1Mar 19, 2026
POT11Mar 19, 2026
PRKN1Mar 19, 2026
PROK21Mar 19, 2026
PROP11Mar 19, 2026
PRRT21Mar 19, 2026
PSMD121Mar 19, 2026
PUS72Mar 19, 2026
PYGM1Mar 19, 2026
RAB321Mar 19, 2026
RAB3GAP11Mar 19, 2026
RABL31Mar 19, 2026
RAD51C1Mar 19, 2026
RAG21Mar 19, 2026
RARS21Mar 19, 2026
RB11Mar 19, 2026
RDH51Mar 19, 2026
RELN1Mar 19, 2026
RERE1Mar 19, 2026
RFX4-AS11Mar 19, 2026
RGS91Mar 19, 2026
RHBDF21Mar 19, 2026
RMRP1Mar 19, 2026
RNASEH2B1Mar 19, 2026
RORA1Mar 19, 2026
RORA-AS11Mar 19, 2026
RYR12Mar 19, 2026
SCN4A1Mar 19, 2026
SCN5A2Mar 19, 2026
SCN8A2Mar 19, 2026
SCYL11Mar 19, 2026
SEMA6B1Mar 19, 2026
SERPINA12Mar 19, 2026
SETBP11Mar 19, 2026
SETD1A1Mar 19, 2026
SETD52Mar 19, 2026
SETX1Mar 19, 2026
SHH1Mar 19, 2026
SLC19A11Mar 19, 2026
SLC22A51Mar 19, 2026
SLC26A21Mar 19, 2026
SLC26A31Mar 19, 2026
SLC3A11Mar 19, 2026
SLC40A11Mar 19, 2026
SLC6A11Mar 19, 2026
SLC6A1-AS11Mar 19, 2026
SLC6A21Mar 19, 2026
SLC6A81Mar 19, 2026
SMAD31Mar 19, 2026
SMC31Mar 19, 2026
SMO1Mar 19, 2026
SMS1Mar 19, 2026
SON1Mar 19, 2026
SORD1Mar 19, 2026
SOS11Mar 19, 2026
SPG71Mar 19, 2026
SQSTM11Mar 19, 2026
SRPK31Mar 19, 2026
STRA61Mar 19, 2026
STUB11Mar 19, 2026
SUPT16H1Mar 19, 2026
SYNE11Mar 19, 2026
SYNGAP11Mar 19, 2026
SYNGAP1-AS11Mar 19, 2026
TACR31Mar 19, 2026
TAPBPL1Mar 19, 2026
TBX11Mar 19, 2026
TCIRG11Mar 19, 2026
TELO21Mar 19, 2026
TGM51Mar 19, 2026
THRB1Mar 19, 2026
TK21Mar 19, 2026
TNFRSF13B2Mar 19, 2026
TNNI31Mar 19, 2026
TNNI3K1Mar 19, 2026
TNXB1Mar 19, 2026
TPP11Mar 19, 2026
TRAF71Mar 19, 2026
TRAPPC2L1Mar 19, 2026
TRAPPC41Mar 19, 2026
TRIM371Mar 19, 2026
TRIO2Mar 19, 2026
TRIP122Mar 19, 2026
TRIT11Mar 19, 2026
TSC21Mar 19, 2026
TSEN21Mar 19, 2026
TTN4Mar 19, 2026
TTN-AS12Mar 19, 2026
TUBGCP61Mar 19, 2026
UBAP2L1Mar 19, 2026
USH2A1Mar 19, 2026
VAMP11Mar 19, 2026
VARS21Mar 19, 2026
VCAN1Mar 19, 2026
VPS33B1Mar 19, 2026
WDR111Mar 19, 2026
WDR191Mar 19, 2026
WLS1Mar 19, 2026
WNK11Mar 19, 2026
WRN1Mar 19, 2026
YY11Mar 19, 2026
ZEB22Mar 19, 2026
ZNF2761Mar 19, 2026

Condition

NameSubmissionsLast Updated
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia1Mar 19, 2026
3M syndrome 12Mar 19, 2026
3M syndrome 21Mar 19, 2026
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Mar 19, 2026
Achondroplasia1Mar 19, 2026
Achromatopsia 21Mar 19, 2026
Acral peeling skin syndrome1Mar 19, 2026
Acromicric dysplasia1Mar 19, 2026
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1Mar 19, 2026
Adams-Oliver syndrome 51Mar 19, 2026
Adenosine kinase deficiency1Mar 19, 2026
Adrenoleukodystrophy1Mar 19, 2026
Aicardi-Goutieres syndrome 21Mar 19, 2026
Aldosterone-producing adenoma with seizures and neurological abnormalities1Mar 19, 2026
Alexander disease1Mar 19, 2026
Alpha-1-antitrypsin deficiency2Mar 19, 2026
Alstrom syndrome1Mar 19, 2026
Alzheimer disease 21Mar 19, 2026
Anauxetic dysplasia 11Mar 19, 2026
Aneurysm-osteoarthritis syndrome1Mar 19, 2026
Arrhythmogenic right ventricular dysplasia 101Mar 19, 2026
Arrhythmogenic right ventricular dysplasia 111Mar 19, 2026
Arthrogryposis, renal dysfunction, and cholestasis 11Mar 19, 2026
Autism spectrum disorder due to AUTS2 deficiency1Mar 19, 2026
Autism, susceptibility to, X-linked 31Mar 19, 2026
Autosomal recessive ataxia, Beauce type1Mar 19, 2026
Autosomal recessive axonal neuropathy with neuromyotonia1Mar 19, 2026
Autosomal recessive congenital ichthyosis 101Mar 19, 2026
Autosomal recessive inherited pseudoxanthoma elasticum1Mar 19, 2026
Autosomal recessive juvenile Parkinson disease 21Mar 19, 2026
Autosomal recessive limb-girdle muscular dystrophy type 2A1Mar 19, 2026
Autosomal recessive limb-girdle muscular dystrophy type 2L2Mar 19, 2026
Autosomal recessive nonsyndromic hearing loss 591Mar 19, 2026
Autosomal recessive osteopetrosis 11Mar 19, 2026
Autosomal recessive spastic paraplegia type 781Mar 19, 2026
Autosomal recessive spinocerebellar ataxia 101Mar 19, 2026
Bardet-Biedl syndrome 11Mar 19, 2026
Bilateral frontoparietal polymicrogyria1Mar 19, 2026
Biotinidase deficiency1Mar 19, 2026
Brain small vessel disease 2A, autosomal dominant1Mar 19, 2026
Breast-ovarian cancer, familial, susceptibility to, 15Mar 19, 2026
Breast-ovarian cancer, familial, susceptibility to, 25Mar 19, 2026
Breast-ovarian cancer, familial, susceptibility to, 31Mar 19, 2026
Brugada syndrome 12Mar 19, 2026
CHEK2-related cancer predisposition2Mar 19, 2026
CTCF-related neurodevelopmental disorder1Mar 19, 2026
Cardiac conduction disease with or without dilated cardiomyopathy 11Mar 19, 2026
Cardiac, facial, and digital anomalies with developmental delay1Mar 19, 2026
Cardiofaciocutaneous syndrome 31Mar 19, 2026
Carnitine palmitoyl transferase II deficiency, neonatal form1Mar 19, 2026
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1Mar 19, 2026
Charcot-Marie-Tooth disease, demyelinating, IIA 1I1Mar 19, 2026
Ciliary dyskinesia, primary, 381Mar 19, 2026
Clark-Baraitser syndrome2Mar 19, 2026
Cobalamin C disease2Mar 19, 2026
Cockayne syndrome type 11Mar 19, 2026
Coffin-Siris syndrome 11Mar 19, 2026
Cognitive impairment with or without cerebellar ataxia1Mar 19, 2026
Combined deficiency of sialidase AND beta galactosidase1Mar 19, 2026
Combined immunodeficiency due to CD3gamma deficiency1Mar 19, 2026
Combined oxidative phosphorylation defect type 201Mar 19, 2026
Combined oxidative phosphorylation deficiency 351Mar 19, 2026
Combined oxidative phosphorylation deficiency 551Mar 19, 2026
Cone dystrophy 41Mar 19, 2026
Cone dystrophy with supernormal rod response1Mar 19, 2026
Cone-rod dystrophy 201Mar 19, 2026
Congenital contractural arachnodactyly1Mar 19, 2026
Congenital generalized lipodystrophy type 11Mar 19, 2026
Congenital hypothalamic hamartoma syndrome1Mar 19, 2026
Congenital microvillous atrophy1Mar 19, 2026
Congenital myasthenic syndrome 191Mar 19, 2026
Congenital myasthenic syndrome 51Mar 19, 2026
Congenital myotonia, autosomal recessive form1Mar 19, 2026
Congenital secretory diarrhea, chloride type1Mar 19, 2026
Congenital stromal corneal dystrophy1Mar 19, 2026
Cornelia de Lange syndrome 13Mar 19, 2026
Cornelia de Lange syndrome 31Mar 19, 2026
Cornelia de Lange syndrome 51Mar 19, 2026
Craniometaphyseal dysplasia, autosomal dominant1Mar 19, 2026
Creatine transporter deficiency1Mar 19, 2026
Crouzon syndrome1Mar 19, 2026
Cystic fibrosis2Mar 19, 2026
Cystinuria1Mar 19, 2026
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Mar 19, 2026
Deficiency of butyrylcholinesterase1Mar 19, 2026
Deficiency of guanidinoacetate methyltransferase1Mar 19, 2026
Developmental and epileptic encephalopathy 931Mar 19, 2026
Developmental and epileptic encephalopathy 941Mar 19, 2026
Developmental and epileptic encephalopathy 981Mar 19, 2026
Developmental and epileptic encephalopathy, 131Mar 19, 2026
Developmental and epileptic encephalopathy, 21Mar 19, 2026
Developmental and epileptic encephalopathy, 31A1Mar 19, 2026
Developmental and epileptic encephalopathy, 321Mar 19, 2026
Developmental and epileptic encephalopathy, 471Mar 19, 2026
Developmental and epileptic encephalopathy, 541Mar 19, 2026
Developmental and epileptic encephalopathy, 661Mar 19, 2026
Developmental and epileptic encephalopathy, 92Mar 19, 2026
Developmental delay with short stature, dysmorphic facial features, and sparse hair 11Mar 19, 2026
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures1Mar 19, 2026
Dilated cardiomyopathy 1FF1Mar 19, 2026
Dilated cardiomyopathy 1G3Mar 19, 2026
Dilated cardiomyopathy 1S1Mar 19, 2026
Dworschak-Punetha neurodevelopmental syndrome1Mar 19, 2026
Ehlers-Danlos syndrome due to tenascin-X deficiency1Mar 19, 2026
Ehlers-Danlos syndrome, musculocontractural type 11Mar 19, 2026
Ehlers-Danlos syndrome, periodontal type 11Mar 19, 2026
Epilepsy with myoclonic atonic seizures1Mar 19, 2026
Epilepsy, progressive myoclonic, 111Mar 19, 2026
Episodic kinesigenic dyskinesia 11Mar 19, 2026
Familial adenomatous polyposis 22Mar 19, 2026
Familial adenomatous polyposis 31Mar 19, 2026
Familial adenomatous polyposis 42Mar 19, 2026
Familial cancer of breast4Mar 19, 2026
Familial temporal lobe epilepsy 71Mar 19, 2026
Fanconi anemia complementation group A1Mar 19, 2026
Fibrochondrogenesis 21Mar 19, 2026
Fumarase deficiency1Mar 19, 2026
Gabriele de Vries syndrome1Mar 19, 2026
Galactosylceramide beta-galactosidase deficiency2Mar 19, 2026
Glutaric aciduria, type 11Mar 19, 2026
Glycine encephalopathy 21Mar 19, 2026
Glycogen storage disease IXa12Mar 19, 2026
Glycogen storage disease type X1Mar 19, 2026
Glycogen storage disease, type V1Mar 19, 2026
Glycosylphosphatidylinositol biosynthesis defect 161Mar 19, 2026
Granulomatous disease, chronic, X-linked1Mar 19, 2026
Grebe syndrome1Mar 19, 2026
Greig cephalopolysyndactyly syndrome1Mar 19, 2026
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy1Mar 19, 2026
Guillouet-Gordon syndrome1Mar 19, 2026
Hb SS disease1Mar 19, 2026
Hearing loss, autosomal recessive 1061Mar 19, 2026
Hemochromatosis type 12Mar 19, 2026
Hemochromatosis type 41Mar 19, 2026
Hereditary factor VIII deficiency disease1Mar 19, 2026
Hereditary spastic paraplegia 261Mar 19, 2026
Hereditary spastic paraplegia 471Mar 19, 2026
Hereditary spastic paraplegia 522Mar 19, 2026
Hereditary spastic paraplegia 71Mar 19, 2026
Histiocytic medullary reticulosis1Mar 19, 2026
Holoprosencephaly 31Mar 19, 2026
Hurler syndrome1Mar 19, 2026
Hydatidiform mole, recurrent, 31Mar 19, 2026
Hypercholesterolemia, familial, 11Mar 19, 2026
Hyperekplexia 21Mar 19, 2026
Hyperinsulinism-hyperammonemia syndrome1Mar 19, 2026
Hyperphosphatasia with intellectual disability syndrome 41Mar 19, 2026
Hypertrophic cardiomyopathy 141Mar 19, 2026
Hypertrophic cardiomyopathy 44Mar 19, 2026
Hypogonadotropic hypogonadism 11 with or without anosmia1Mar 19, 2026
Hypogonadotropic hypogonadism 4 with or without anosmia1Mar 19, 2026
Immunodeficiency, common variable, 22Mar 19, 2026
Infantile hypophosphatasia1Mar 19, 2026
Infertility associated with multi-tailed spermatozoa and excessive DNA1Mar 19, 2026
Inflammatory bowel disease 11Mar 19, 2026
Intellectual developmental disorder 611Mar 19, 2026
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature2Mar 19, 2026
Intellectual developmental disorder with autism and macrocephaly1Mar 19, 2026
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Mar 19, 2026
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Mar 19, 2026
Intellectual developmental disorder, X-linked 1141Mar 19, 2026
Intellectual developmental disorder, autosomal dominant 661Mar 19, 2026
Intellectual developmental disorder, autosomal dominant 671Mar 19, 2026
Intellectual developmental disorder, autosomal dominant 681Mar 19, 2026
Intellectual developmental disorder, autosomal recessive 781Mar 19, 2026
Intellectual disability, X-linked 491Mar 19, 2026
Intellectual disability, X-linked syndromic, Turner type1Mar 19, 2026
Intellectual disability, autosomal dominant 142Mar 19, 2026
Intellectual disability, autosomal dominant 291Mar 19, 2026
Intellectual disability, autosomal dominant 452Mar 19, 2026
Intellectual disability, autosomal dominant 51Mar 19, 2026
Intellectual disability, autosomal recessive 31Mar 19, 2026
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency2Mar 19, 2026
Interstitial lung disease due to ABCA3 deficiency1Mar 19, 2026
Joubert syndrome 173Mar 19, 2026
Joubert syndrome 211Mar 19, 2026
Joubert syndrome 231Mar 19, 2026
KBG syndrome1Mar 19, 2026
Kabuki syndrome 12Mar 19, 2026
Kabuki syndrome 21Mar 19, 2026
Kleefstra syndrome 21Mar 19, 2026
Knobloch syndrome 11Mar 19, 2026
Kury-Isidor syndrome1Mar 19, 2026
Larsen syndrome1Mar 19, 2026
Lateral meningocele syndrome2Mar 19, 2026
Leber optic atrophy1Mar 19, 2026
Leukodystrophy, hypomyelinating, 111Mar 19, 2026
Leukoencephalopathy, progressive, infantile-onset, with or without deafness1Mar 19, 2026
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1Mar 19, 2026
Liang-Wang syndrome1Mar 19, 2026
Long QT syndrome 21Mar 19, 2026
Low phospholipid associated cholelithiasis1Mar 19, 2026
Lynch syndrome 51Mar 19, 2026
MPI-congenital disorder of glycosylation1Mar 19, 2026
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome2Mar 19, 2026
Malignant hyperthermia, susceptibility to, 12Mar 19, 2026
Marfan syndrome1Mar 19, 2026
Maturity-onset diabetes of the young type 21Mar 19, 2026
Medium-chain acyl-coenzyme A dehydrogenase deficiency1Mar 19, 2026
Megacystis-microcolon-intestinal hypoperistalsis syndrome 51Mar 19, 2026
Melanoma and neural system tumor syndrome1Mar 19, 2026
Melanoma, cutaneous malignant, susceptibility to, 81Mar 19, 2026
Menke-Hennekam syndrome 11Mar 19, 2026
Metachromatic leukodystrophy1Mar 19, 2026
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1Mar 19, 2026
Mevalonic aciduria1Mar 19, 2026
Microcephaly and chorioretinopathy 11Mar 19, 2026
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2Mar 19, 2026
Microphthalmia, syndromic 91Mar 19, 2026
Microphthalmia/coloboma 111Mar 19, 2026
Mitochondrial DNA depletion syndrome, myopathic form1Mar 19, 2026
Mitochondrial complex I deficiency, nuclear type 21Mar 19, 2026
Mitochondrial complex III deficiency nuclear type 12Mar 19, 2026
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1Mar 19, 2026
Mowat-Wilson syndrome2Mar 19, 2026
Mulibrey nanism syndrome1Mar 19, 2026
Multiple congenital anomalies-hypotonia-seizures syndrome 31Mar 19, 2026
Multiple epiphyseal dysplasia type 41Mar 19, 2026
Muscular dystrophy, limb-girdle, autosomal recessive 231Mar 19, 2026
Myasthenic syndrome, congenital, 1B, fast-channel1Mar 19, 2026
Myopathy, myofibrillar, 9, with early respiratory failure1Mar 19, 2026
Nephrogenic syndrome of inappropriate antidiuresis1Mar 19, 2026
Nephronophthisis 131Mar 19, 2026
Nephronophthisis 181Mar 19, 2026
Nephrotic syndrome 161Mar 19, 2026
Nephrotic syndrome, type 22Mar 19, 2026
Nephrotic syndrome, type 211Mar 19, 2026
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities1Mar 19, 2026
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum1Mar 19, 2026
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy1Mar 19, 2026
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies1Mar 19, 2026
Neurodevelopmental disorder with language delay and variable cognitive abnormalities1Mar 19, 2026
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities1Mar 19, 2026
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities1Mar 19, 2026
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Mar 19, 2026
Neurodevelopmental disorder with poor growth and behavioral abnormalities1Mar 19, 2026
Neurodevelopmental disorder with speech impairment and dysmorphic facies1Mar 19, 2026
Neurofibromatosis, type 16Mar 19, 2026
Neuronal ceroid lipofuscinosis 21Mar 19, 2026
Neuronopathy, distal hereditary motor, autosomal recessive 81Mar 19, 2026
Neuropathy, hereditary sensory and autonomic, type 2A1Mar 19, 2026
Noonan syndrome 131Mar 19, 2026
Noonan syndrome 21Mar 19, 2026
Noonan syndrome 41Mar 19, 2026
O'Donnell-Luria-Rodan syndrome2Mar 19, 2026
Okur-Chung neurodevelopmental syndrome1Mar 19, 2026
Orthostatic intolerance1Mar 19, 2026
Osteogenesis imperfecta, perinatal lethal1Mar 19, 2026
Paget disease of bone 31Mar 19, 2026
Palmoplantar keratoderma-esophageal carcinoma syndrome1Mar 19, 2026
Pancreatic agenesis 11Mar 19, 2026
Parenti-mignot neurodevelopmental syndrome1Mar 19, 2026
Parkinson disease 11, autosomal dominant, susceptibility to1Mar 19, 2026
Parkinson disease 26, autosomal dominant, susceptibility to1Mar 19, 2026
Periventricular nodular heterotopia 71Mar 19, 2026
Periventricular nodular heterotopia 91Mar 19, 2026
Perrault syndrome 11Mar 19, 2026
Phenylketonuria6Mar 19, 2026
Pigmentary pallidal degeneration1Mar 19, 2026
Pigmentary retinal dystrophy1Mar 19, 2026
Pilarowski-Bjornsson syndrome1Mar 19, 2026
Pituitary hormone deficiency, combined, 21Mar 19, 2026
Pleuropulmonary blastoma1Mar 19, 2026
Polycystic kidney disease 42Mar 19, 2026
Polycystic kidney disease, adult type4Mar 19, 2026
Pontocerebellar hypoplasia type 2B1Mar 19, 2026
Pontocerebellar hypoplasia type 31Mar 19, 2026
Pontocerebellar hypoplasia type 61Mar 19, 2026
Potassium-aggravated myotonia1Mar 19, 2026
Primary ciliary dyskinesia 32Mar 19, 2026
Primary hyperoxaluria type 31Mar 19, 2026
Progressive familial intrahepatic cholestasis type 32Mar 19, 2026
Prolidase deficiency1Mar 19, 2026
Prolonged electroretinal response suppression 11Mar 19, 2026
Protoporphyria, erythropoietic, 11Mar 19, 2026
Pseudoxanthoma elasticum, forme fruste1Mar 19, 2026
Pyruvate kinase deficiency of red cells1Mar 19, 2026
Radioulnar synostosis with amegakaryocytic thrombocytopenia 21Mar 19, 2026
Recessive dystrophic epidermolysis bullosa1Mar 19, 2026
Renal carnitine transport defect1Mar 19, 2026
Retinitis pigmentosa 191Mar 19, 2026
Retinitis pigmentosa 251Mar 19, 2026
Retinitis pigmentosa 262Mar 19, 2026
Retinitis pigmentosa 391Mar 19, 2026
Retinoblastoma1Mar 19, 2026
Rubinstein-Taybi syndrome due to CREBBP mutations1Mar 19, 2026
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency2Mar 19, 2026
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES1Mar 19, 2026
Severe early-childhood-onset retinal dystrophy3Mar 19, 2026
Sialuria1Mar 19, 2026
Sifrim-Hitz-Weiss syndrome1Mar 19, 2026
Smith-Lemli-Opitz syndrome2Mar 19, 2026
Sotos syndrome1Mar 19, 2026
Spastic ataxia 11Mar 19, 2026
Spinocerebellar ataxia 481Mar 19, 2026
Spinocerebellar ataxia type 422Mar 19, 2026
Spinocerebellar ataxia, autosomal recessive 301Mar 19, 2026
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21Mar 19, 2026
Spondyloepimetaphyseal dysplasia, PAPSS2 type1Mar 19, 2026
Spondylometaphyseal dysplasia - Sutcliffe type1Mar 19, 2026
Stankiewicz-Isidor syndrome1Mar 19, 2026
Succinate-semialdehyde dehydrogenase deficiency2Mar 19, 2026
Syndromic X-linked intellectual disability Snyder type1Mar 19, 2026
TELO2-related intellectual disability-neurodevelopmental disorder1Mar 19, 2026
Tay-Sachs disease1Mar 19, 2026
Thyroid dyshormonogenesis 62Mar 19, 2026
Thyroid hormone resistance, generalized, autosomal dominant1Mar 19, 2026
Treacher Collins syndrome 41Mar 19, 2026
Tumor predisposition syndrome 31Mar 19, 2026
Usher syndrome type 12Mar 19, 2026
Usher syndrome type 1D1Mar 19, 2026
Velocardiofacial syndrome1Mar 19, 2026
Very long chain acyl-CoA dehydrogenase deficiency1Mar 19, 2026
Wagner disease1Mar 19, 2026
Warburg micro syndrome 11Mar 19, 2026
Werner syndrome1Mar 19, 2026
Wiedemann-Steiner syndrome4Mar 19, 2026
Wilson disease3Mar 19, 2026
Wolman disease1Mar 19, 2026
X-linked Alport syndrome1Mar 19, 2026
ZTTK syndrome1Mar 19, 2026
Zaki syndrome1Mar 19, 2026