NIHR Bioresource Rare Diseases (University of Cambridge), NIHR BR RD

General information

NIHR Bioresource Rare Diseases, NIHR BR RD
University of Cambridge
Cambridge
United Kingdom
https://bridgestudy.medschl.cam.ac.uk/whatis.shtml
Organization ID: 505998

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 2146

Gene

GeneSubmissionsLast Updated
AARS21Sep 13, 2019
ABCA499Apr 26, 2018
ABCB1111Sep 13, 2019
ABCB422Sep 13, 2019
ABCC62Aug 18, 2017
ABCG54Sep 13, 2019
ABCG81Mar 28, 2019
ABHD122Aug 18, 2017
ACADVL2Sep 13, 2019
ACTN127Sep 13, 2019
ACVRL138May 21, 2020
ADA22Sep 30, 2019
ADAMTS131Mar 28, 2019
ADGRV17Aug 18, 2017
AHI15Aug 18, 2017
AIPL11Aug 18, 2017
AIRE1Sep 30, 2019
ALMS12Sep 13, 2019
ALS21Sep 13, 2019
ANKRD113Sep 13, 2019
ANKRD2614Sep 13, 2019
APOL114Sep 13, 2019
ARFGEF1-DT1Sep 13, 2019
ARL2BP1Aug 18, 2017
ARL61Aug 18, 2017
ARPC1B3Sep 30, 2019
ARX1Sep 13, 2019
ASXL11Sep 13, 2019
ASXL32Sep 13, 2019
ATF62Aug 18, 2017
ATL11Sep 13, 2019
ATP1A32Sep 13, 2019
AXDND11Sep 13, 2019
BBS14Aug 18, 2017
BBS102Aug 18, 2017
BBS53Apr 26, 2018
BCS1L4Sep 13, 2019
BEST12Aug 18, 2017
BICD21Sep 13, 2019
BLOC1S31Mar 28, 2019
BMPR2134Sep 13, 2019
BTK5Sep 30, 2019
C19orf121Sep 13, 2019
C1QTNF53Aug 18, 2017
C31Sep 13, 2019
CABP42Aug 18, 2017
CACNA1A1Sep 13, 2019
CACNA1F13Aug 18, 2017
CACNA2D42Aug 18, 2017
CAMK2B1Sep 13, 2019
CARD91Sep 30, 2019
CASK2Sep 13, 2019
CC2D1A1Sep 13, 2019
CD192Sep 30, 2019
CD274Sep 30, 2019
CD27-AS14Sep 30, 2019
CD40LG1Sep 30, 2019
CD79A1Sep 30, 2019
CDH31Aug 18, 2017
CDHR14Aug 18, 2017
CDK5RAP21Sep 13, 2019
CEP1041Sep 13, 2019
CEP2903Apr 26, 2018
CERKL7Aug 18, 2017
CFAP4105Aug 18, 2017
CFH1Sep 13, 2019
CHM2Aug 18, 2017
CLASP14Sep 13, 2019
CLN35Aug 18, 2017
CLRN12Aug 18, 2017
CLRN1-AS11Aug 18, 2017
CNGA12Aug 18, 2017
CNGA34Aug 18, 2017
CNGB111Apr 26, 2018
CNGB38Aug 18, 2017
COL18A17Aug 18, 2017
COL1A12Sep 13, 2019
COL4A51Sep 13, 2019
COL5A13Sep 13, 2019
CP2Mar 28, 2019
CPA62Sep 13, 2019
CRB117Apr 26, 2018
CRB22Sep 13, 2019
CRX3Aug 18, 2017
CSF3R3Sep 30, 2019
CSTB1Sep 13, 2019
CTLA45Sep 30, 2019
CTNNA11Aug 18, 2017
CXCR41Sep 30, 2019
CYCS3Sep 13, 2019
CYP4V21Aug 18, 2017
DHX301Sep 13, 2019
DIAPH12Sep 13, 2019
DKC11Sep 30, 2019
DLG41Sep 13, 2019
DNMT3A2Sep 13, 2019
DOCK82Sep 30, 2019
DTNBP11Mar 28, 2019
DYNC2LI12Mar 28, 2019
DYRK1A1Sep 13, 2019
EBF32Sep 13, 2019
EFCAB13-DT2Mar 28, 2019
EIF2AK419Sep 13, 2019
ELANE1Sep 13, 2019
ENG87May 21, 2020
ETV66Sep 13, 2019
EYS29Apr 26, 2018
F1014Mar 28, 2019
F10-AS12Mar 28, 2019
F1147Sep 13, 2019
F11-AS110Mar 28, 2019
F13A14Mar 28, 2019
F13B1Mar 28, 2019
F25Mar 28, 2019
F522Mar 28, 2019
F727Mar 28, 2019
F870May 13, 2020
F929Sep 13, 2019
FA2H1Sep 13, 2019
FAM161A2Aug 18, 2017
FANCD22Sep 13, 2019
FANCD2OS1Sep 13, 2019
FAS1Sep 30, 2019
FGA10Mar 28, 2019
FGB10Mar 28, 2019
FGG14Mar 28, 2019
FHL11Jun 8, 2020
FLI14Sep 13, 2019
FLNA1Mar 28, 2019
FLNC1Jun 8, 2020
FLNC-AS11Jun 8, 2020
FOXG11Sep 13, 2019
G6PC31Sep 30, 2019
GABRB31Sep 13, 2019
GATA16Sep 13, 2019
GDF24May 21, 2020
GFI1B1Mar 28, 2019
GJC21Sep 13, 2019
GNAL1Sep 13, 2019
GNAO15Sep 13, 2019
GNAT21Aug 18, 2017
GNB11Sep 13, 2019
GNE2Mar 28, 2019
GP1BA14Feb 18, 2021
GP1BB28Sep 13, 2019
GP61Mar 28, 2019
GP95Sep 13, 2019
GPHN3Aug 18, 2017
GPI1Sep 13, 2019
GPR1432Aug 18, 2017
GPR1791Aug 18, 2017
GRIA32Sep 13, 2019
GRM63Aug 18, 2017
GUCA1A3Aug 18, 2017
GUCY2D5Apr 26, 2018
HACE11Sep 13, 2019
HAX11Sep 13, 2019
HBB1Sep 13, 2019
HGSNAT3Aug 18, 2017
HMBS1Sep 13, 2019
HPD1Sep 13, 2019
HPS19Sep 13, 2019
HPS36Sep 13, 2019
HPS55Mar 28, 2019
HPS611Sep 13, 2019
HTRA12Sep 13, 2019
ICOS2Sep 30, 2019
IFNGR11Sep 30, 2019
IFT1401Aug 18, 2017
IKZF16Sep 30, 2019
IL12RB12Sep 30, 2019
IMPG11Aug 18, 2017
IMPG26Aug 18, 2017
INCA11Sep 13, 2019
INSL63Sep 13, 2019
IQCB16Aug 18, 2017
IRF81Sep 30, 2019
ITGA2B26Oct 29, 2020
ITGB317Sep 13, 2019
JAK23Sep 13, 2019
KCNB11Sep 13, 2019
KCNH11Sep 13, 2019
KCNJ101Sep 13, 2019
KCNK31Sep 13, 2019
KCNQ24Sep 13, 2019
KCNV23Aug 18, 2017
KCTD72Sep 13, 2019
KDM5C1Sep 13, 2019
KIAA05862Sep 13, 2019
KIF1C1Sep 13, 2019
KLHL72Aug 18, 2017
KMT2B5Sep 13, 2019
KRAS1Sep 13, 2019
LCA54Aug 18, 2017
LMAN11Mar 28, 2019
LMX1B1Sep 13, 2019
LOC1019271572Aug 18, 2017
LOC10272356623May 21, 2020
LOC1027240583Sep 13, 2019
LOC1053710461Aug 18, 2017
LOC1060990621Sep 13, 2019
LOC1071335101Sep 13, 2019
LOC1100063191Sep 13, 2019
LOC1181427573Aug 18, 2017
LRBA4Sep 30, 2019
LRP22Aug 18, 2017
LRP53Aug 18, 2017
LURAP1L-AS12Aug 18, 2017
MAGT11Sep 30, 2019
MCFD23Sep 13, 2019
MECOM1Sep 13, 2019
MECP22Sep 13, 2019
MED12L4Mar 28, 2019
MEF2C1Sep 13, 2019
MERTK4Aug 18, 2017
MFRP4Aug 18, 2017
MFSD83Aug 18, 2017
MHRT1Jun 8, 2020
MPL6Sep 13, 2019
MT-ATP61Sep 13, 2019
MT-TI1Jun 8, 2020
MTM11Sep 13, 2019
MTOR1Sep 13, 2019
MTR2Sep 13, 2019
MTRFR1Sep 13, 2019
MYBPC32Jun 8, 2020
MYCN1Sep 13, 2019
MYH71Jun 8, 2020
MYH942Aug 2, 2019
MYO7A13Aug 18, 2017
NBEAL235Oct 23, 2020
NF14Sep 13, 2019
NFKB118Sep 30, 2019
NFKB23Sep 30, 2019
NFKBIA1Sep 30, 2019
NGLY11Aug 26, 2020
NIPA11Sep 13, 2019
NMNAT16Sep 13, 2019
NOTCH36Sep 13, 2019
NPHP11Aug 18, 2017
NPHS14Sep 13, 2019
NPHS22Sep 13, 2019
NPM11Sep 13, 2019
NR2E34Aug 18, 2017
NRAS1Sep 13, 2019
NUP931Sep 13, 2019
NYX2Aug 18, 2017
OCA23Aug 18, 2017
P2RY124Mar 28, 2019
PANK22Sep 13, 2019
PAX21Aug 18, 2017
PC2Sep 13, 2019
PCARE2Aug 18, 2017
PCDH152Aug 18, 2017
PDE10A1Sep 13, 2019
PDE6A3Aug 18, 2017
PDE6B10Aug 18, 2017
PDE6B-AS12Aug 18, 2017
PDE6C4Aug 18, 2017
PHF32Apr 26, 2018
PHYH2Aug 18, 2017
PI4KA2Mar 28, 2019
PIGT1Sep 13, 2019
PIK3CD1Sep 30, 2019
PIK3R13Sep 30, 2019
PKLR1Sep 13, 2019
PLA2G61Sep 13, 2019
PLAT2Mar 28, 2019
PLG4Mar 28, 2019
PMM26Sep 13, 2019
POLR1C1Sep 13, 2019
PRDM161Aug 18, 2017
PROC33Mar 28, 2019
PROM110Aug 18, 2017
PROS138Sep 13, 2019
PRPF316Aug 18, 2017
PRPF81Aug 18, 2017
PRPH26Aug 18, 2017
PTPN113Sep 13, 2019
PURA2Sep 13, 2019
RAG12Sep 30, 2019
RAG22Sep 30, 2019
RASGRP214Sep 13, 2019
RBP31Aug 18, 2017
RBP41Aug 18, 2017
RDH123Aug 18, 2017
REEP12Sep 13, 2019
RFXANK1Sep 30, 2019
RGR1Aug 18, 2017
RHO6Aug 18, 2017
RHOBTB21Sep 13, 2019
RLBP13Aug 18, 2017
RNU4ATAC4Sep 13, 2019
RP117Aug 18, 2017
RP25Aug 18, 2017
RPE653Sep 13, 2019
RPGR13Aug 18, 2017
RPGRIP16Aug 18, 2017
RPL111Sep 13, 2019
RPS261Sep 13, 2019
RUNX121Sep 13, 2019
SACS2Sep 13, 2019
SATB21Sep 13, 2019
SBDS1Sep 13, 2019
SCN10A1Sep 13, 2019
SCN11A1Sep 13, 2019
SCN1A5Sep 13, 2019
SCN1A-AS11Sep 13, 2019
SCN2A1Sep 13, 2019
SCN8A2Sep 13, 2019
SCN9A1Sep 13, 2019
SEC23B2Sep 13, 2019
SEPT5-GP1BB24Sep 13, 2019
SERPINC131Mar 28, 2019
SERPIND13Mar 28, 2019
SERPINE11Mar 28, 2019
SERPINF22Mar 28, 2019
SETD52Sep 13, 2019
SGSH2Sep 13, 2019
SHANK32Sep 13, 2019
SIL12Sep 13, 2019
SLC13A52Sep 13, 2019
SLC18A21Sep 13, 2019
SLC19A13Aug 18, 2017
SLC2A12Sep 13, 2019
SLC33A11Sep 13, 2019
SLC6A12Sep 13, 2019
SLC6A1-AS11Sep 13, 2019
SLC9A61Sep 13, 2019
SLFN142Sep 13, 2019
SMAD45May 21, 2020
SMARCAL13Sep 30, 2019
SNRNP2001Aug 18, 2017
SNX141Sep 13, 2019
SPAST2Sep 13, 2019
SPG72Sep 13, 2019
SPR1Sep 13, 2019
SPTA16Sep 13, 2019
SPTLC11Sep 13, 2019
SRC1Sep 13, 2019
SRCAP1Sep 13, 2019
SRD5A31Sep 13, 2019
STAT17Sep 30, 2019
STAT36Sep 30, 2019
STK41Sep 30, 2019
STS1Sep 13, 2019
STXBP15Sep 13, 2019
SYNGAP11Sep 13, 2019
TANGO21Sep 13, 2019
TBC1D242Sep 13, 2019
TBX48Sep 13, 2019
TBXA2R4Mar 28, 2019
TCF41Sep 13, 2019
TERT1Sep 30, 2019
THAP11Sep 13, 2019
THBD6Mar 28, 2019
THPO2Mar 28, 2019
TINF21Sep 30, 2019
TMPRSS61Sep 13, 2019
TOPORS2Aug 18, 2017
TP53RK2Sep 13, 2019
TRIO1Sep 13, 2019
TRIP121Sep 13, 2019
TRPC61Sep 13, 2019
TRPM17Aug 18, 2017
TRPM62Sep 13, 2019
TSC21Sep 13, 2019
TSPAN121Aug 18, 2017
TTC372Sep 30, 2019
TTC7A2Sep 30, 2019
TUBA1A2Sep 13, 2019
TUBB119Sep 13, 2019
TUBB4A2Sep 13, 2019
TYR3Aug 18, 2017
TYRP12Aug 18, 2017
USH1C4Aug 18, 2017
USH2A96Apr 26, 2018
USH2A-AS17Apr 26, 2018
USH2A-AS22Aug 18, 2017
VPS13B7Sep 13, 2019
VWF142Sep 13, 2019
WAS2Mar 28, 2019
WASF14Sep 13, 2019
WDR452Sep 13, 2019
WDR732Sep 13, 2019
WDR811Sep 13, 2019
WT13Sep 13, 2019
ZAP701Sep 30, 2019
ZDHHC243Aug 18, 2017
ZFYVE262Aug 18, 2017

Condition

NameSubmissionsLast Updated
11q partial monosomy syndrome2Mar 28, 2019
Abnormal basal ganglia MRI signal intensity1Sep 13, 2019
Abnormal bleeding45Sep 13, 2019
Abnormal dense granule content1Sep 13, 2019
Abnormal dense granules1Sep 13, 2019
Abnormal emotion/affect behavior2Sep 13, 2019
Abnormal facial shape3Sep 13, 2019
Abnormal platelet aggregation15Mar 28, 2019
Abnormal platelet function4Mar 28, 2019
Abnormal synaptic transmission2Sep 13, 2019
Abnormal thrombosis5Sep 13, 2019
Abnormality of circulating enzyme level2Sep 13, 2019
Abnormality of coagulation32Mar 28, 2019
Abnormality of iron homeostasis1Sep 13, 2019
Abnormality of metabolism/homeostasis3Sep 13, 2019
Abnormality of muscle fibers1Sep 13, 2019
Abnormality of pain sensation1Sep 13, 2019
Abnormality of the cerebellum1Sep 13, 2019
Abnormality of the cerebral white matter6Sep 13, 2019
Abnormality of the eye24Apr 26, 2018
Abnormality of the heme biosynthetic pathway1Sep 13, 2019
Abnormality of the nervous system1Sep 13, 2019
Abnormality of the optic nerve1Sep 13, 2019
Abnormality of the respiratory system1Sep 13, 2019
Absent speech2Sep 13, 2019
Achromatopsia6Aug 18, 2017
Acute episodes of neuropathic symptoms1Sep 13, 2019
Acute myeloid leukemia2Sep 13, 2019
Agitation1Sep 13, 2019
Albinism9Aug 18, 2017
Anemia6Sep 13, 2019
Antithrombin III deficiency25Mar 28, 2019
Aplasia/Hypoplasia of the cerebellum1Sep 13, 2019
Apnea1Sep 13, 2019
Apraxia1Sep 13, 2019
Asymmetric septal hypertrophy6Jun 8, 2020
Autistic disorder of childhood onset8Sep 13, 2019
Basal ganglia calcification1Sep 13, 2019
Behavioral abnormality4Sep 13, 2019
Bernard Soulier syndrome4Sep 13, 2019
Bilateral sensorineural hearing impairment1Sep 13, 2019
Brachycephaly1Sep 13, 2019
Bulbar palsy2Sep 13, 2019
Cafe-au-lait spot2Sep 13, 2019
Cataract (disease)2Sep 13, 2019
Central apnea1Sep 13, 2019
Central core regions in muscle fibers1Sep 13, 2019
Central hypotonia1Sep 13, 2019
Cerebellar ataxia11Sep 13, 2019
Cerebellar atrophy5Sep 13, 2019
Cerebral atrophy2Sep 13, 2019
Cerebral hypomyelination1Sep 13, 2019
Cerebral palsy4Sep 13, 2019
Cholestasis, intrahepatic, of pregnancy 333Sep 13, 2019
Chorea4Sep 13, 2019
Choreoathetosis1Sep 13, 2019
Coagulation factor deficiency syndrome3Mar 28, 2019
Coffin-Siris syndrome 11Mar 9, 2018
Cognitive impairment2Sep 13, 2019
Combined T and B cell immunodeficiency5Sep 30, 2019
Combined deficiency of factor V and factor VIII, 13Mar 28, 2019
Common variable immunodeficiency13Sep 30, 2019
Conductive hearing impairment1Sep 13, 2019
Cone dystrophy15Sep 13, 2019
Cone-rod dystrophy and hearing loss 11Mar 9, 2018
Confusion2Sep 13, 2019
Congenital amegakaryocytic thrombocytopenia3Sep 13, 2019
Congenital cerebellar hypoplasia8Sep 13, 2019
Congenital dyserythropoietic anemia, type II2Sep 13, 2019
Congenital lactic acidosis2Sep 13, 2019
Congenital nephrotic syndrome4Sep 13, 2019
Congenital stationary night blindness27Aug 18, 2017
Constipation2Sep 13, 2019
Corpus callosum, agenesis of1Sep 13, 2019
Cortical tubers1Sep 13, 2019
Cryptorchidism1Sep 13, 2019
Decreased activity of mitochondrial complex I1Sep 13, 2019
Decreased head circumference2Sep 13, 2019
Decreased methionine synthase activity2Sep 13, 2019
Deep venous thrombosis21Mar 28, 2019
Delayed speech and language development2Sep 13, 2019
Depressivity2Sep 13, 2019
Developmental regression4Sep 13, 2019
DiGeorge Syndrome1Sep 13, 2019
Diabetes mellitus2Sep 13, 2019
Diarrhea3Sep 13, 2019
Dilatation1Sep 13, 2019
Dysarthria4Sep 13, 2019
Dyskinesia4Sep 13, 2019
Dystonia20Sep 13, 2019
Ehlers-Danlos syndrome, classic type1Sep 13, 2019
Ehlers-danlos syndrome, arthrochalasia type, 21Sep 13, 2019
Epileptic encephalopathy24Sep 13, 2019
Epileptic encephalopathy, early infantile, 541Mar 9, 2018
Episodic ataxia1Sep 13, 2019
Facial hypertrichosis1Sep 13, 2019
Factor V deficiency17Mar 28, 2019
Factor VII deficiency20Mar 28, 2019
Factor X deficiency13Mar 28, 2019
Factor XIII, A subunit, deficiency of4Mar 28, 2019
Failure to thrive2Sep 13, 2019
Familial exudative vitreoretinopathy4Aug 18, 2017
Fanconi anemia, complementation group D22Sep 13, 2019
Focal segmental glomerulosclerosis9Sep 13, 2019
Focal seizures5Sep 13, 2019
Gastrointestinal dysmotility3Sep 13, 2019
Gastrostomy tube feeding in infancy2Sep 13, 2019
Generalized dystonia2Sep 13, 2019
Generalized hypotonia8Sep 13, 2019
Generalized seizures1Sep 13, 2019
Gingival bleeding1Sep 13, 2019
Glanzmann thrombasthenia25Sep 13, 2019
Global developmental delay47Aug 26, 2020
Glomerulonephritis (disease)2Sep 13, 2019
Gray platelet syndrome34Oct 23, 2020
Growth abnormality1Sep 13, 2019
Hearing impairment2Sep 13, 2019
Hemolytic anemia7Sep 13, 2019
Hereditary factor IX deficiency disease62Sep 13, 2019
Hereditary factor VIII deficiency disease23May 13, 2020
Hereditary factor XI deficiency disease41Sep 13, 2019
Hereditary hemorrhagic telangiectasia type 184May 21, 2020
Hermansky-Pudlak syndrome27Mar 28, 2019
Hermansky-Pudlak syndrome 12Sep 13, 2019
Hermansky-Pudlak syndrome 21Sep 13, 2019
Hermansky-Pudlak syndrome 61Sep 13, 2019
Homocystinuria2Sep 13, 2019
Hyperammonemia1Sep 13, 2019
Hypertyrosinemia2Sep 13, 2019
Hyperventilation1Sep 13, 2019
Hypofibrinogenemia23Mar 28, 2019
Hypokinesia2Sep 13, 2019
Hypomagnesemia1Sep 13, 2019
Hypothyroidism1Sep 13, 2019
Hypoxic Ischemic Encephalopathy1Mar 9, 2018
Hypsarrhythmia1Sep 13, 2019
Ichthyosis (disease)1Sep 13, 2019
Immunodeficiency2Sep 30, 2019
Impaired ADP-induced platelet aggregation3Mar 28, 2019
Impaired arachidonic acid-induced platelet aggregation1Sep 13, 2019
Impaired collagen-induced platelet aggregation1Sep 13, 2019
Impaired epinephrine-induced platelet aggregation1Sep 13, 2019
Impaired ristocetin-induced platelet aggregation2Sep 13, 2019
Impaired thermal sensitivity1Sep 13, 2019
Impaired thrombin-induced platelet aggregation1Sep 13, 2019
Impaired thromboxane A2 agonist-induced platelet aggregation3Sep 13, 2019
Increased mean platelet volume2Sep 13, 2019
Infantile spasms2Sep 13, 2019
Inherited Immunodeficiency Diseases85Sep 30, 2019
Inherited bleeding disorder, platelet-type1Mar 28, 2019
Intellectual disability16Sep 13, 2019
Intellectual disability, moderate1Sep 13, 2019
Intellectual disability, severe5Sep 13, 2019
Intrauterine growth retardation1Aug 26, 2020
Iron accumulation in brain1Sep 13, 2019
Ischemic stroke, susceptibility to1Sep 13, 2019
Joint laxity2Sep 13, 2019
Juvenile myelomonocytic leukemia5Sep 13, 2019
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome5May 21, 2020
Lactic acidosis1Aug 26, 2020
Laryngomalacia1Sep 13, 2019
Leber congenital amaurosis24Aug 18, 2017
Leukodystrophy1Sep 13, 2019
Limb dystonia4Sep 13, 2019
Lissencephaly1Sep 13, 2019
MYH9-related disorder34Aug 2, 2019
Macrothrombocytopenia68Sep 13, 2019
Macular dystrophy25Apr 26, 2018
Menstrual irregularities2Sep 13, 2019
Mesangiocapillary glomerulonephritis2Sep 13, 2019
Microcephaly18Sep 13, 2019
Microcytic anemia1Sep 13, 2019
Microphthalmia1Sep 13, 2019
Migraine1Sep 13, 2019
Migraine with aura3Sep 13, 2019
Migraine without aura1Sep 13, 2019
Mild hearing impairment2Sep 13, 2019
Minimal change glomerulonephritis1Sep 13, 2019
Motor neuron atrophy1Sep 13, 2019
Movement disorder8Sep 13, 2019
Muscular dystrophy2Sep 13, 2019
Muscular hypotonia of the trunk1Sep 13, 2019
Myelofibrosis2Sep 13, 2019
Myeloproliferative disorder2Sep 13, 2019
Myoclonic absences1Sep 13, 2019
Myoclonus1Sep 13, 2019
Myopathy2Sep 13, 2019
Myopia (disease)2Sep 13, 2019
Neoplasm1Sep 13, 2019
Nephrotic range proteinuria9Sep 13, 2019
Neurodegeneration3Sep 13, 2019
Neurodevelopmental delay1Sep 13, 2019
Neurofibroma3Sep 13, 2019
Neutropenia2Sep 13, 2019
Noonan syndrome 12Sep 13, 2019
Nystagmus4Sep 13, 2019
Oculogyric crisis1Sep 13, 2019
Optic atrophy1Sep 13, 2019
Optic disc pallor2Sep 13, 2019
Osteoporosis1Sep 13, 2019
Palpitations2Sep 13, 2019
Pancytopenia1Mar 28, 2019
Paris-Trousseau thrombocytopenia1Sep 13, 2019
Paroxysmal dyskinesia1Sep 13, 2019
Pectus excavatum1Sep 13, 2019
Pelvic girdle muscle weakness1Sep 13, 2019
Peripheral edema1Sep 13, 2019
Periventricular gray matter heterotopia2Sep 13, 2019
Personality changes1Sep 13, 2019
Photosensitive tonic-clonic seizures1Sep 13, 2019
Plasminogen deficiency, type I4Mar 28, 2019
Platelet-type bleeding disorder 184Sep 13, 2019
Polycythemia (disease)1Sep 13, 2019
Polymicrogyria1Sep 13, 2019
Poor motor coordination1Sep 13, 2019
Poor speech2Sep 13, 2019
Primary dilated cardiomyopathy1Jun 8, 2020
Progressive encephalopathy1Sep 13, 2019
Progressive neurologic deterioration1Sep 13, 2019
Progressive psychomotor deterioration1Sep 13, 2019
Prolonged prothrombin time4Mar 28, 2019
Protein S deficiency disease33Sep 13, 2019
Proteinuria2Sep 13, 2019
Ptosis2Sep 13, 2019
Pulmonary arterial hypertension155Sep 13, 2019
Pulmonary embolism (disease)1Mar 28, 2019
Pulmonary venoocclusive disease 2, autosomal recessive18Sep 13, 2019
Pure red cell aplasia1Sep 13, 2019
Recurrent respiratory infections2Sep 13, 2019
Recurrent urinary tract infections1Sep 13, 2019
Reduced protein C activity21Mar 28, 2019
Reduced quantity of Von Willebrand factor5Sep 13, 2019
Reduced von Willebrand factor activity6Sep 13, 2019
Renal tubular dysfunction1Sep 13, 2019
Reticulocytopenia1Sep 13, 2019
Retinal dystrophy126Sep 13, 2019
Retinitis pigmentosa224Apr 26, 2018
Rhabdomyolysis2Sep 13, 2019
Rod-cone dystrophy5Sep 13, 2019
Roifman syndrome4Sep 13, 2019
Scoliosis1Sep 13, 2019
Seizures26Sep 13, 2019
Sensorimotor neuropathy3Sep 13, 2019
Sensory neuropathy1Sep 13, 2019
Severe Myopia2Sep 13, 2019
Severe congenital neutropenia2Sep 13, 2019
Severe global developmental delay1Sep 13, 2019
Severe visual impairment3Sep 13, 2019
Short stature1Sep 13, 2019
Shwachman-Diamond syndrome 11Sep 13, 2019
Sick sinus syndrome1Sep 13, 2019
Sickled erythrocytes2Sep 13, 2019
Sleep disturbance2Sep 13, 2019
Small vessel cerebrovascular disease1Sep 13, 2019
Sparse hair5Sep 13, 2019
Spastic ataxia2Sep 13, 2019
Spastic diplegia1Sep 13, 2019
Spastic paraplegia8Sep 13, 2019
Spasticity5Sep 13, 2019
Specific learning disability3Sep 13, 2019
Splenomegaly2Sep 13, 2019
Stage 5 chronic kidney disease1Sep 13, 2019
Stargardt disease 144Apr 26, 2018
Stereotypy1Sep 13, 2019
Steroid-resistant nephrotic syndrome7Sep 13, 2019
Storage pool disease of platelets4Mar 28, 2019
Strabismus4Sep 13, 2019
Stridor1Sep 13, 2019
Stroke3Sep 13, 2019
Telangiectasia, hereditary hemorrhagic, type 230May 21, 2020
Telangiectasia, hereditary hemorrhagic, type 54May 21, 2020
Tetraparesis1Sep 13, 2019
Tetraplegia/tetraparesis1Sep 13, 2019
Thrombocytopenia101Feb 18, 2021
Thromboembolism14Mar 28, 2019
Thrombotic stroke1Mar 28, 2019
Thrombotic thrombocytopenic purpura1Mar 28, 2019
Toe walking1Sep 13, 2019
Tremor1Sep 13, 2019
Urinary incontinence1Sep 13, 2019
Usher syndrome54Apr 26, 2018
Vesicoureteral reflux1Sep 13, 2019
Visual impairment3Sep 13, 2019
Von Willebrand disease, recessive form12Mar 28, 2019
beta Thalassemia1Sep 13, 2019
von Willebrand disease type 13Mar 28, 2019
von Willebrand disease type 210Mar 28, 2019
von Willebrand disorder92Mar 28, 2019
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