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Suma Genomics, Suma

General information

Suma Genomics, Suma

Manipal
Karnataka
India - 576104
http://sumagenomics.com/
Organization ID: 508066

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 324

Gene

GeneSubmissionsLast Updated
ABCC91Sep 4, 2021
ACADVL2Feb 12, 2022
ACER31Sep 7, 2021
ACTB2Sep 29, 2023
ACTG21Jul 8, 2022
ADAR2Feb 11, 2022
ADGRG11Jul 8, 2022
ADNP1Sep 7, 2021
AGA1Feb 11, 2022
AGL1Sep 3, 2022
AHI11Nov 2, 2022
AMT2Sep 4, 2021
ANAPC151May 29, 2021
ANK11Sep 4, 2021
APOB1Sep 7, 2021
ARID1B1Jul 8, 2022
ARSA2Sep 7, 2021
ARX1Sep 28, 2023
ASIC4-AS12Sep 4, 2021
ASL1Feb 12, 2022
ATM2Feb 12, 2022
ATP6V0A41Jul 8, 2022
ATP7B2Sep 7, 2021
ATRIP1Sep 4, 2021
ATRIP-TREX11Sep 4, 2021
BCKDHA1Jul 8, 2022
BCL11B1May 29, 2021
BMP11Sep 7, 2021
BPTF1Sep 4, 2021
BTD4Jul 8, 2022
BTK2Nov 2, 2022
C12orf603Sep 4, 2021
C17orf1071Feb 11, 2022
C1S1Jul 8, 2022
CA5A1Sep 7, 2021
CACNA1G1Sep 4, 2021
CARS11Jul 8, 2022
CARS1-AS11Jul 8, 2022
CASK1Sep 7, 2021
CASQ21Sep 4, 2021
CBS1Jul 8, 2022
CC2D2A1Jan 6, 2023
CCDST1Sep 4, 2021
CCN62Sep 29, 2023
CDKL51Mar 27, 2023
CELSR11Feb 11, 2022
CEP2904Feb 12, 2022
CFTR6Sep 28, 2023
CFTR-AS13Sep 28, 2023
CHRNE1Feb 11, 2022
CHST141Sep 3, 2022
CLDN162Feb 11, 2022
CNKSR21Sep 4, 2021
CNTNAP11Sep 4, 2021
COASY1Nov 2, 2022
COG71Jan 21, 2022
COL11A11Sep 7, 2021
COL1A11Sep 4, 2021
COL1A21Jul 8, 2022
COL27A11Jan 21, 2022
COL2A12Oct 3, 2023
COL4A52Sep 28, 2023
COL6A11Oct 4, 2023
COL6A21Jul 8, 2022
COL9A21Feb 12, 2022
CPT1A1Jul 8, 2022
CREBBP1Sep 3, 2022
CRLF11Jul 8, 2022
CRYAB1Oct 6, 2023
CTCF1Feb 11, 2022
CUL71Sep 29, 2023
CYB5R31Jul 8, 2022
CYP11B21Oct 4, 2023
CYP27B11Sep 4, 2021
CYP4F221Jul 8, 2022
DCX1Feb 11, 2022
DDX3X1Feb 12, 2022
DEGS11Sep 7, 2021
DHX301Nov 2, 2022
DMD1Sep 4, 2021
DNASE1L31Nov 2, 2022
DNM1L1Sep 4, 2021
DUOX22Sep 3, 2022
DYNC1H11Feb 11, 2022
DYSF1Jan 21, 2022
EBF32Jul 8, 2022
EDA1Jan 6, 2023
EDAR1May 29, 2021
EFTUD21Jul 8, 2022
ELN1Jan 21, 2022
EP3001Sep 7, 2021
EPCAM1Apr 22, 2024
ESR11Sep 4, 2021
ETFDH2Feb 11, 2022
F101Feb 11, 2022
F13A11Apr 22, 2024
FANCG1Mar 27, 2023
FAS1Jul 8, 2022
FBN17Jan 6, 2023
FBXL41May 29, 2021
FGFR33Mar 27, 2023
FIG41Sep 7, 2021
FKBP101Sep 4, 2021
FKRP1Jan 21, 2022
FLG1Sep 4, 2021
FOXC11Oct 4, 2023
FOXL21Feb 11, 2022
FRAS11Feb 12, 2022
FTO1Feb 12, 2022
FUZ2Sep 30, 2023
GAA2Sep 4, 2021
GALC1Feb 11, 2022
GALNS1Sep 7, 2021
GALT2Jul 8, 2022
GATB2May 29, 2021
GCDH1Feb 7, 2024
GCM21Feb 11, 2022
GDAP11Sep 4, 2021
GFM21Sep 7, 2021
GJB21Mar 27, 2023
GLUD11Sep 29, 2023
GMPPA1Sep 4, 2021
GNB51Jul 8, 2022
GRHPR1Jul 8, 2022
GUCY2C3Sep 4, 2021
GUCY2C-AS11Sep 4, 2021
GUCY2D1Nov 2, 2022
HBB2Mar 27, 2023
HPS31Feb 11, 2022
HSD17B41Jan 6, 2023
HUWE11Sep 29, 2023
IBA571Jul 8, 2022
IFIH11Oct 6, 2023
IGHMBP22Feb 12, 2022
IL2RG1Oct 6, 2023
INTU2Jul 8, 2022
IQSEC21May 29, 2021
ITPR12Feb 12, 2022
KCNT11Jul 8, 2022
KIF5C1Feb 11, 2022
KIFBP1Jul 8, 2022
KIT1Jul 8, 2022
KLHL71Sep 4, 2021
KMT2A1Sep 7, 2021
LAMA11Feb 11, 2022
LAMA22Sep 4, 2021
LDLR1Oct 6, 2023
LIFR1Jul 8, 2022
LIPA4Oct 3, 2023
LMNA2Aug 1, 2022
LOC1053724352Sep 30, 2023
LOC1060990622Mar 27, 2023
LOC1067998341Oct 4, 2023
LOC1071335102Mar 27, 2023
LOC1125434701Jul 8, 2022
LOC1234809301Jul 8, 2022
LOC1268058741Feb 11, 2022
LOC1268596901Feb 8, 2024
LOC1268607361Jan 21, 2022
LOC1268611061Mar 27, 2023
LOC1268611151Jul 8, 2022
LOC1300039591Jul 8, 2022
LOC1300095851Jul 8, 2022
LOC1300586581Jan 21, 2022
LOC1300598911Jan 6, 2023
LOC1300649422Sep 30, 2023
LPL1Sep 7, 2021
LRTOMT1May 29, 2021
MACF11Jul 8, 2022
MAN2B11Jan 6, 2023
MATN31Sep 4, 2021
MCOLN11Jul 8, 2022
MECP25Nov 2, 2022
MED121Jul 8, 2022
MED131Feb 11, 2022
METTL51Sep 7, 2021
MINK11Feb 11, 2022
MMACHC1Jan 21, 2022
MMUT1Sep 4, 2021
MOCS22Sep 7, 2021
MPDU11Jan 6, 2023
MPL2Sep 28, 2023
MTM11Jul 8, 2022
MYBPC11Sep 4, 2021
MYH92Feb 8, 2024
MYO1H2Feb 11, 2022
NAXE1Jan 21, 2022
NDUFAF51Jan 6, 2023
NF111Feb 7, 2024
NFIX1Jul 8, 2022
NIPBL1Sep 29, 2023
OAS11Jul 8, 2022
OBSL12Sep 7, 2021
OPA32Nov 2, 2022
OSGEP2Sep 7, 2021
PDHA11Sep 4, 2021
PHF61Sep 4, 2021
PIEZO21Oct 4, 2023
PKHD11Feb 8, 2024
PLA2G61Jan 5, 2023
PLP11Oct 3, 2023
PPP3CA1Jul 8, 2022
PPT11Sep 7, 2021
PTCH11Feb 11, 2022
PTPN111Jul 8, 2022
PYCR21Mar 27, 2023
PYGL1Jan 6, 2023
RAB9B1Oct 3, 2023
RANBP22Jan 6, 2023
REEP11Jul 8, 2022
RET1Sep 7, 2021
ROR21Jul 8, 2022
RRM2B1Jul 8, 2022
RS11Jul 8, 2022
RYR12Jul 8, 2022
SBDS1Sep 29, 2023
SCN1A1Jul 8, 2022
SCN2A2Mar 11, 2022
SCNN1B1Feb 12, 2022
SERPINF11Jan 6, 2023
SETX1Feb 11, 2022
SIGMAR11Feb 11, 2022
SLC12A31Mar 27, 2023
SLC26A51Sep 7, 2021
SLC5A62Mar 27, 2023
SLC6A91Sep 4, 2021
SMARCB11Jul 8, 2022
SOX181Feb 12, 2022
SOX51Feb 11, 2022
SOX91Nov 2, 2022
SPAST1Jul 8, 2022
SPEG1Sep 4, 2021
SRD5A31Mar 27, 2023
STXBP11Sep 4, 2021
SYNE11Sep 4, 2021
TBCD1Sep 4, 2021
TBL1XR11Sep 4, 2021
TBXAS11Feb 8, 2024
TCEA21Feb 12, 2022
TCF41May 29, 2021
TDRD71Sep 4, 2021
TMEM672Oct 3, 2023
TNFRSF13B1Sep 4, 2021
TNFRSF1A1May 29, 2021
TOMT1May 29, 2021
TOR1A1Jul 8, 2022
TP531Feb 11, 2022
TP631Sep 28, 2023
TPI11Jan 21, 2022
TPM21Apr 22, 2024
TPP11Jan 6, 2023
TPRKB1Jan 21, 2022
TREX11Sep 4, 2021
TRIO1Jul 8, 2022
TRPV62Feb 8, 2024
TSC23Mar 27, 2023
TTC81Jul 8, 2022
TTN6Jul 8, 2022
TTN-AS13Jul 8, 2022
TUBA1A2Sep 3, 2022
TUBB4A1Jul 8, 2022
TUBG11Jul 8, 2022
TUBGCP21Mar 27, 2023
TWNK1Feb 11, 2022
UFM11Jul 8, 2022
UGT1A1Jul 8, 2022
UGT1A11Jul 8, 2022
UGT1A101Jul 8, 2022
UGT1A31Jul 8, 2022
UGT1A41Jul 8, 2022
UGT1A51Jul 8, 2022
UGT1A61Jul 8, 2022
UGT1A71Jul 8, 2022
UGT1A81Jul 8, 2022
UGT1A91Jul 8, 2022
VPS13D2Feb 11, 2022
WAC1Nov 2, 2022
WDR371Sep 3, 2022
WWOX1Nov 2, 2022
XPC1Feb 11, 2022
YARS21Sep 4, 2021
ZEB21Jan 6, 2023

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 32Nov 2, 2022
3M syndrome 11Sep 29, 2023
3M syndrome 22Sep 7, 2021
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Sep 7, 2021
Achondroplasia1Jul 8, 2022
Acromicric dysplasia1Feb 11, 2022
Adrenocortical carcinoma, hereditary1Feb 11, 2022
Aicardi-Goutieres syndrome 11Sep 4, 2021
Aicardi-Goutieres syndrome 62Feb 11, 2022
Aicardi-Goutieres syndrome 71Oct 6, 2023
Alacrima, achalasia, and intellectual disability syndrome1Sep 4, 2021
Alkaline ceramidase 3 deficiency1Sep 7, 2021
Amyotrophic lateral sclerosis type 161Feb 11, 2022
Amyotrophic lateral sclerosis type 41Feb 11, 2022
Argininosuccinate lyase deficiency1Feb 12, 2022
Arthrogryposis multiplex congenita 3, myogenic type1Sep 4, 2021
Arthrogryposis multiplex congenita 51Jul 8, 2022
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development1Jul 8, 2022
Arthrogryposis, distal, type 1A1Apr 22, 2024
Arthrogryposis, distal, type 1B1Sep 4, 2021
Aspartylglucosaminuria1Feb 11, 2022
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1Feb 11, 2022
Ataxia-telangiectasia syndrome2Feb 12, 2022
Atypical glycine encephalopathy1Sep 4, 2021
Autoimmune lymphoproliferative syndrome type 11Jul 8, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1Feb 11, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 51Jul 8, 2022
Autosomal recessive Robinow syndrome1Jul 8, 2022
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome2Feb 11, 2022
Autosomal recessive congenital ichthyosis 51Jul 8, 2022
Autosomal recessive distal spinal muscular atrophy 12Feb 12, 2022
Autosomal recessive distal spinal muscular atrophy 21Feb 11, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2I1Jan 21, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2J3Jul 8, 2022
Autosomal recessive nonsyndromic hearing loss 1A1Mar 27, 2023
Autosomal recessive nonsyndromic hearing loss 611Sep 7, 2021
Autosomal recessive nonsyndromic hearing loss 631May 29, 2021
Autosomal recessive pseudohypoaldosteronism type 11Feb 12, 2022
Autosomal systemic lupus erythematosus type 161Nov 2, 2022
Axenfeld-Rieger syndrome type 31Oct 4, 2023
Baraitser-Winter syndrome 12Sep 29, 2023
Bardet-Biedl syndrome 143Feb 12, 2022
Bardet-Biedl syndrome 81Jul 8, 2022
Basal cell carcinoma, susceptibility to, 71Feb 11, 2022
Beta-thalassemia HBB/LCRB1Mar 27, 2023
Bethlem myopathy 1A1Jul 8, 2022
Bifunctional peroxisomal enzyme deficiency1Jan 6, 2023
Bilateral frontoparietal polymicrogyria1Jul 8, 2022
Biotinidase deficiency4Jul 8, 2022
Blepharophimosis, ptosis, and epicanthus inversus syndrome1Feb 11, 2022
Bone marrow failure syndrome 51Feb 11, 2022
Borjeson-Forssman-Lehmann syndrome1Sep 4, 2021
COG7 congenital disorder of glycosylation2Jan 21, 2022
Camptomelic dysplasia1Nov 2, 2022
Carnitine palmitoyl transferase 1A deficiency1Jul 8, 2022
Cataract 361Sep 4, 2021
Catecholaminergic polymorphic ventricular tachycardia 21Sep 4, 2021
Central core myopathy2Jul 8, 2022
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction2Feb 11, 2022
Charcot-Marie-Tooth disease axonal type 2K1Sep 4, 2021
Charcot-Marie-Tooth disease axonal type 2O1Feb 11, 2022
Charcot-Marie-Tooth disease axonal type 2S2Feb 12, 2022
Cholestasis-pigmentary retinopathy-cleft palate syndrome1Jul 8, 2022
Choroid plexus papilloma1Feb 11, 2022
Classic homocystinuria1Jul 8, 2022
Cobalamin C disease1Jan 21, 2022
Coffin-Siris syndrome 11Jul 8, 2022
Cold-induced sweating syndrome 11Jul 8, 2022
Colorectal cancer1Feb 11, 2022
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21Jul 8, 2022
Combined oxidative phosphorylation deficiency 391Sep 7, 2021
Combined oxidative phosphorylation deficiency 412May 29, 2021
Complement component C1s deficiency1Jul 8, 2022
Complex cortical dysplasia with other brain malformations 21Feb 11, 2022
Complex cortical dysplasia with other brain malformations 41Jul 8, 2022
Cone-rod dystrophy 61Nov 2, 2022
Congenital amegakaryocytic thrombocytopenia2Sep 28, 2023
Congenital bilateral aplasia of vas deferens from CFTR mutation2Jul 8, 2022
Congenital diarrhea 5 with tufting enteropathy1Apr 22, 2024
Congenital multicore myopathy with external ophthalmoplegia2Jul 8, 2022
Congenital muscular dystrophy due to LMNA mutation1Feb 11, 2022
Congenital myasthenic syndrome 4A1Feb 11, 2022
Congenital myasthenic syndrome 4B1Feb 11, 2022
Congenital myasthenic syndrome 4C1Feb 11, 2022
Cornelia de Lange syndrome 11Sep 29, 2023
Crigler-Najjar syndrome type 11Jul 8, 2022
Crigler-Najjar syndrome, type II1Jul 8, 2022
Cutaneous mastocytosis1Jul 8, 2022
Cutis laxa, autosomal dominant 11Jan 21, 2022
Cystic fibrosis6Sep 28, 2023
DeSanto-Shinawi syndrome due to WAC point mutation1Nov 2, 2022
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2Jul 8, 2022
Deficiency of alpha-mannosidase1Jan 6, 2023
Deficiency of cytochrome-b5 reductase1Jul 8, 2022
Developmental and epileptic encephalopathy 6B1Jul 8, 2022
Developmental and epileptic encephalopathy, 112Mar 11, 2022
Developmental and epileptic encephalopathy, 141Jul 8, 2022
Developmental and epileptic encephalopathy, 21Mar 27, 2023
Developmental and epileptic encephalopathy, 281Nov 2, 2022
Developmental and epileptic encephalopathy, 41Sep 4, 2021
Developmental malformations-deafness-dystonia syndrome1Jan 21, 2022
Dilated cardiomyopathy 1A1Feb 11, 2022
Dilated cardiomyopathy 1G1Sep 4, 2021
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1Feb 11, 2022
Duchenne muscular dystrophy1Sep 4, 2021
Early-onset generalized limb-onset dystonia1Jul 8, 2022
Early-onset myopathy with fatal cardiomyopathy5Jul 8, 2022
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome1Sep 4, 2021
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1May 29, 2021
Ectopia lentis 1, isolated, autosomal dominant2Jan 6, 2023
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31Sep 28, 2023
Ehlers-Danlos syndrome, musculocontractural type 11Sep 3, 2022
Ehlers-Danlos syndrome, periodontal type 21Jul 8, 2022
Ehlers-danlos syndrome, arthrochalasia type, 21Jul 8, 2022
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Feb 11, 2022
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11Sep 4, 2021
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11Jan 21, 2022
Epileptic encephalopathy, infantile or early childhood, 11Jul 8, 2022
Epiphyseal dysplasia, multiple, 21Feb 12, 2022
Episodic ataxia, type 91Feb 12, 2022
Factor XIII, A subunit, deficiency of1Apr 22, 2024
Familial acute necrotizing encephalopathy1Jan 6, 2023
Familial hypobetalipoproteinemia 11Sep 7, 2021
Familial hypokalemia-hypomagnesemia1Mar 27, 2023
Familial partial lipodystrophy, Dunnigan type1Feb 11, 2022
Fanconi anemia complementation group G1Mar 27, 2023
Fatal infantile hypertonic myofibrillar myopathy1Oct 6, 2023
Fraser syndrome 11Feb 12, 2022
Galactosylceramide beta-galactosidase deficiency1Feb 11, 2022
Galloway-Mowat syndrome 32Sep 7, 2021
Galloway-Mowat syndrome 51Jan 21, 2022
Gastrointestinal stromal tumor1Jul 8, 2022
Geleophysic dysplasia 22Nov 2, 2022
Generalized epilepsy with febrile seizures plus, type 21Jul 8, 2022
Ghosal hematodiaphyseal dysplasia1Feb 8, 2024
Gilbert syndrome1Jul 8, 2022
Gillespie syndrome2Feb 12, 2022
Glioma susceptibility 11Feb 11, 2022
Glutaric aciduria, type 11Feb 7, 2024
Glycogen storage disease type III1Sep 3, 2022
Glycogen storage disease, type II2Sep 4, 2021
Glycogen storage disease, type VI1Jan 6, 2023
Gnb5-related intellectual disability-cardiac arrhythmia syndrome1Jul 8, 2022
Goldberg-Shprintzen syndrome1Jul 8, 2022
Gorlin syndrome1Feb 11, 2022
Heart-hand syndrome, Slovenian type1Feb 11, 2022
Hereditary factor X deficiency disease1Feb 11, 2022
Hereditary spastic paraplegia 311Jul 8, 2022
Hereditary spastic paraplegia 41Jul 8, 2022
Hereditary spastic paraplegia 741Jul 8, 2022
Hereditary spherocytosis type 11Sep 4, 2021
Hermansky-Pudlak syndrome 31Feb 11, 2022
Holoprosencephaly 71Feb 11, 2022
Hutchinson-Gilford syndrome2Aug 1, 2022
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency1Sep 7, 2021
Hypercholesterolemia, familial, 11Oct 6, 2023
Hyperinsulinism-hyperammonemia syndrome1Sep 29, 2023
Hyperlipoproteinemia, type I1Sep 7, 2021
Hyperparathyroidism 41Feb 11, 2022
Hyperparathyroidism, transient neonatal2Feb 8, 2024
Hypertrichotic osteochondrodysplasia Cantu type1Sep 4, 2021
Hypohidrotic X-linked ectodermal dysplasia1Jan 6, 2023
Hypomyelinating leukodystrophy 101Mar 27, 2023
Hypomyelinating leukodystrophy 61Jul 8, 2022
Hypoparathyroidism, familial isolated, 21Feb 11, 2022
Hypotonia, ataxia, and delayed development syndrome2Jul 8, 2022
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1Feb 12, 2022
Ichthyosis vulgaris1Sep 4, 2021
Immunodeficiency, common variable, 21Sep 4, 2021
Intellectual developmental disorder 611Feb 11, 2022
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1May 29, 2021
Intellectual developmental disorder, autosomal recessive 721Sep 7, 2021
Intellectual disability, X-linked 11May 29, 2021
Intellectual disability, X-linked 1021Feb 12, 2022
Intellectual disability, X-linked syndromic, Turner type1Sep 29, 2023
Intellectual disability, X-linked, syndromic, Houge type1Sep 4, 2021
Intellectual disability, autosomal dominant 131Feb 11, 2022
Intellectual disability, autosomal dominant 151Jul 8, 2022
Intellectual disability, autosomal dominant 411Sep 4, 2021
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Feb 11, 2022
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency3Sep 4, 2021
Joubert syndrome 31Nov 2, 2022
Joubert syndrome 53Feb 12, 2022
Joubert syndrome 62Oct 3, 2023
Joubert syndrome 91Jan 6, 2023
Juvenile retinoschisis1Jul 8, 2022
LEOPARD syndrome 11Jul 8, 2022
Lamb-Shaffer syndrome1Feb 11, 2022
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia1Jul 8, 2022
Lethal polymalformative syndrome, Boissel type1Feb 12, 2022
Leukodystrophy, hypomyelinating, 141Jul 8, 2022
Leukodystrophy, hypomyelinating, 181Sep 7, 2021
Li-Fraumeni syndrome 11Feb 11, 2022
Lissencephaly 9 with complex brainstem malformation1Jul 8, 2022
Lissencephaly due to TUBA1A mutation2Sep 3, 2022
Lissencephaly type 1 due to doublecortin gene mutation1Feb 11, 2022
Lucey-Driscoll syndrome1Jul 8, 2022
Lymphatic malformation 91Feb 11, 2022
Lysosomal acid lipase deficiency3Jan 6, 2023
MASS syndrome1Feb 11, 2022
MPDU1-congenital disorder of glycosylation1Jan 6, 2023
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2Feb 8, 2024
Malan overgrowth syndrome1Jul 8, 2022
Mandibulofacial dysostosis-microcephaly syndrome1Jul 8, 2022
Maple syrup urine disease1Jul 8, 2022
Marfan syndrome5Feb 11, 2022
Marshall-Smith syndrome1Jul 8, 2022
Meckel syndrome, type 43Feb 12, 2022
Megacystis-microcolon-intestinal hypoperistalsis syndrome 51Jul 8, 2022
Menke-Hennekam syndrome 21Sep 7, 2021
Merosin deficient congenital muscular dystrophy2Sep 4, 2021
Metachondromatosis1Jul 8, 2022
Metachromatic leukodystrophy2Sep 7, 2021
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1Sep 4, 2021
Microcephaly, developmental delay, and brittle hair syndrome1Jul 8, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Jul 8, 2022
Migraine, familial hemiplegic, 31Jul 8, 2022
Mitochondrial DNA depletion syndrome 131May 29, 2021
Mitochondrial DNA depletion syndrome 8a1Jul 8, 2022
Mitochondrial complex 1 deficiency, nuclear type 161Jan 6, 2023
Miyoshi muscular dystrophy 11Jan 21, 2022
Mowat-Wilson syndrome1Jan 6, 2023
Mucolipidosis type IV1Jul 8, 2022
Mucopolysaccharidosis, MPS-IV-A1Sep 7, 2021
Muenke syndrome1Mar 27, 2023
Multiple acyl-CoA dehydrogenase deficiency2Feb 11, 2022
Multiple endocrine neoplasia type 2B1Sep 7, 2021
Multiple epiphyseal dysplasia type 51Sep 4, 2021
Multiple mitochondrial dysfunctions syndrome 31Jul 8, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51Jan 21, 2022
Muscular dystrophy-dystroglycanopathy type B51Jan 21, 2022
Myopathy, centronuclear, 51Sep 4, 2021
Myosclerosis1Jul 8, 2022
Neurodegeneration with brain iron accumulation 2B1Jan 5, 2023
Neurodegeneration, infantile-onset, biotin-responsive1Feb 11, 2022
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Sep 4, 2021
Neurodevelopmental disorder with severe motor impairment and absent language1Nov 2, 2022
Neurofibromatosis, type 110Feb 7, 2024
Neurofibromatosis-Noonan syndrome1Mar 27, 2023
Neuronal ceroid lipofuscinosis 11Sep 7, 2021
Neuronal ceroid lipofuscinosis 21Jan 6, 2023
Neuronopathy, distal hereditary motor, type 5B1Jul 8, 2022
Neurooculocardiogenitourinary syndrome1Sep 3, 2022
Neuropathy, congenital hypomyelinating, 31Sep 4, 2021
Non-ketotic hyperglycinemia2Sep 4, 2021
Noonan syndrome 11Jul 8, 2022
Orofaciodigital syndrome 172Jul 8, 2022
Osteogenesis imperfecta type 111Sep 4, 2021
Osteogenesis imperfecta type 131Sep 7, 2021
Osteogenesis imperfecta type 61Jan 6, 2023
Osteogenesis imperfecta type I1Sep 4, 2021
Osteogenesis imperfecta type III1Jul 8, 2022
Osteogenesis imperfecta with normal sclerae, dominant form1Jul 8, 2022
Osteogenesis imperfecta, perinatal lethal1Jul 8, 2022
Osteoporosis1Jul 8, 2022
PERCHING syndrome1Sep 4, 2021
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures1Mar 27, 2023
Pelizaeus-Merzbacher disease1Oct 3, 2023
Peripheral motor neuropathy, childhood-onset, biotin-responsive1Mar 27, 2023
Piebaldism1Jul 8, 2022
Pitt-Hopkins syndrome1May 29, 2021
Polycystic kidney disease 41Feb 8, 2024
Pontocerebellar hypoplasia, type 121Nov 2, 2022
Primary hyperoxaluria, type II1Jul 8, 2022
Primary hypomagnesemia2Feb 11, 2022
Progeroid and marfanoid aspect-lipodystrophy syndrome1Feb 11, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31Feb 11, 2022
Progressive pseudorheumatoid dysplasia2Sep 29, 2023
Pulmonary alveolar proteinosis with hypogammaglobulinemia1Jul 8, 2022
Pyruvate dehydrogenase E1-alpha deficiency1Sep 4, 2021
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss1Jul 8, 2022
Retinitis pigmentosa 511Jul 8, 2022
Rett syndrome4Nov 2, 2022
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction1Jul 8, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations1Sep 3, 2022
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Sep 7, 2021
SRD5A3-congenital disorder of glycosylation1Mar 27, 2023
See cases2Sep 30, 2023
Seizures, benign familial infantile, 31Feb 12, 2022
Senior-Loken syndrome 63Feb 12, 2022
Severe X-linked myotubular myopathy1Jul 8, 2022
Severe myoclonic epilepsy in infancy1Jul 8, 2022
Short-rib thoracic dysplasia 20 with polydactyly2Jul 8, 2022
Shwachman-Diamond syndrome 11Sep 29, 2023
Spinocerebellar ataxia type 15/162Feb 12, 2022
Spinocerebellar ataxia type 292Feb 12, 2022
Spinocerebellar ataxia type 421Sep 4, 2021
Spondyloepiphyseal dysplasia congenita1Sep 28, 2023
Steel syndrome1Jan 21, 2022
Stickler syndrome type 21Sep 7, 2021
Stiff skin syndrome1Feb 11, 2022
Stüve-Wiedemann syndrome 11Jul 8, 2022
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2Sep 7, 2021
Supravalvar aortic stenosis1Jan 21, 2022
Syndromic X-linked intellectual disability Najm type1Sep 7, 2021
TNF receptor-associated periodic fever syndrome (TRAPS)1May 29, 2021
Thanatophoric dysplasia type 11Sep 3, 2022
Thyroid dyshormonogenesis 62Sep 3, 2022
Torsion dystonia 41Jul 8, 2022
Triosephosphate isomerase deficiency1Jan 21, 2022
Tuberous sclerosis 23Mar 27, 2023
Ullrich congenital muscular dystrophy 1A1Jul 8, 2022
Very long chain acyl-CoA dehydrogenase deficiency2Feb 12, 2022
Visceral myopathy 11Jul 8, 2022
Vitamin D-dependent rickets, type 1A1Sep 4, 2021
Weill-Marchesani syndrome 2, dominant1Feb 11, 2022
Wiedemann-Steiner syndrome1Sep 7, 2021
Wilson disease2Sep 7, 2021
Wolman disease1Oct 3, 2023
X-linked Alport syndrome2Sep 28, 2023
X-linked agammaglobulinemia2Nov 2, 2022
X-linked intellectual disability-psychosis-macroorchidism syndrome1Sep 4, 2021
X-linked lissencephaly with abnormal genitalia1Sep 28, 2023
X-linked severe combined immunodeficiency1Oct 6, 2023
Xeroderma pigmentosum, group C1Feb 11, 2022
Yunis-Varon syndrome1Sep 7, 2021
beta Thalassemia1Jul 8, 2022
not provided4Oct 4, 2023