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Department of Genetics (Sultan Qaboos University Hospital), SQUH-Genetics

General information

Department of Genetics, SQUH-Genetics
Sultan Qaboos University Hospital
Al-khod
Muscat
Oman - 123
https://www.squ.edu.om/medicine/Departments/Genetics/
Organization ID: 506653

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 398

Gene

GeneSubmissionsLast Updated
AARS11Sep 20, 2022
AARS21Oct 25, 2018
ABCA42May 12, 2026
ABCB112Dec 6, 2023
ABCB41May 12, 2026
ABCD41May 12, 2026
ACADM1Dec 6, 2023
ACADVL2May 12, 2026
ADK1May 12, 2026
AGA1Oct 25, 2018
AGL1May 12, 2026
AGXT2Oct 25, 2018
AIRE1Jun 13, 2024
ALDH3A21Oct 25, 2018
ALDH7A11Jun 13, 2024
ALG112May 12, 2026
ALG81May 12, 2026
ALOX12B2Oct 25, 2018
ALOXE31Oct 25, 2018
AMT2Oct 25, 2018
ANTXR21Oct 25, 2018
APTX1Sep 20, 2022
AR1Oct 25, 2018
ARSA1Oct 25, 2018
ARSB1Oct 25, 2018
ASL1Oct 25, 2018
ASNS3Mar 7, 2024
ASS11Mar 7, 2024
ATP6V0A22Oct 25, 2018
ATP7B1Oct 25, 2018
ATRIP1Oct 25, 2018
ATRIP-TREX11Oct 25, 2018
AXDND11Jun 12, 2024
BCKDHA3Jun 13, 2024
BCKDHB1Oct 25, 2018
BEST11Oct 25, 2018
BRCA21Oct 25, 2018
BRWD31Oct 25, 2018
BSCL23Jun 12, 2024
C1QTNF51Jun 13, 2024
CARS11Nov 13, 2022
CAVIN11Oct 25, 2018
CBL1May 12, 2026
CBS1Oct 25, 2018
CCDC392Oct 20, 2025
CCDC403Oct 20, 2025
CCNO2Oct 20, 2025
CFAP4101May 12, 2026
CFD1Jun 12, 2024
CFTR8Jun 12, 2024
CFTR-AS11Oct 25, 2018
CFTR-AS22Oct 25, 2018
CHRNE1Oct 25, 2018
CHRNG1Oct 25, 2018
CHST31Oct 25, 2018
CLCN11Oct 25, 2018
CLN51Oct 25, 2018
CLN61Oct 25, 2018
CNGA31Oct 25, 2018
COA81Jun 12, 2024
COL18A11Oct 25, 2018
COL2A12May 12, 2026
COL5A11May 12, 2026
COL7A11Oct 25, 2018
CPLANE11Jun 13, 2024
CPT22May 12, 2026
CSTB1Oct 25, 2018
CTSC1Oct 25, 2018
CTSK2Oct 25, 2018
CUL72Oct 25, 2018
CYP1B14Jun 12, 2024
CZ1P-ASNS3Mar 7, 2024
DBT3Jun 13, 2024
DDHD21Oct 25, 2018
DEAF11May 12, 2024
DIPK1A1May 12, 2026
DM1-AS1Oct 25, 2018
DMD1May 12, 2026
DMPK1Oct 25, 2018
DNAAF114Oct 20, 2025
DNAAF32Oct 20, 2025
DNAAF3-AS12Oct 20, 2025
DNAAF51Oct 20, 2025
DNAH111Oct 20, 2025
DNAH53May 12, 2026
DNAH5-AS11Oct 20, 2025
DNAJB21Oct 25, 2018
DNAL11Oct 20, 2025
DRAM21May 12, 2026
DSC21Oct 25, 2018
DSP1May 12, 2026
DSTYK1Nov 13, 2022
DYSF3Oct 25, 2018
EARS22May 12, 2026
EEF1D1May 12, 2026
ELANE1Jun 12, 2024
ELMO21Jun 13, 2024
EPG52Oct 25, 2018
ERCC61Nov 13, 2022
ERLIN21May 12, 2026
ETFDH1Jun 13, 2024
EXOSC21Nov 13, 2022
FA2H2May 12, 2026
FAH2Oct 25, 2018
FARSB1Jul 29, 2018
FAT41Oct 25, 2018
FBN11Dec 6, 2023
FBXL31Oct 25, 2018
FERMT12Jun 12, 2024
FGD11Nov 13, 2022
FGFR32Jun 12, 2024
FH1Jun 12, 2024
FILIP11May 12, 2026
FLVCR21Nov 13, 2022
FMR13Oct 25, 2018
FMR1-AS11Oct 25, 2018
FRAXA2Oct 25, 2018
G6PD4Jun 12, 2024
GALC1Jun 13, 2024
GALNS1Oct 25, 2018
GALT1Jun 13, 2024
GAN1Oct 25, 2018
GAREM21May 12, 2026
GCDH3May 12, 2026
GDF51Jun 12, 2024
GDF5-AS11Jun 12, 2024
GJC21Jun 12, 2024
GLDC2Oct 25, 2018
GLDN1May 12, 2026
GLI31May 12, 2026
GLRA11Oct 25, 2018
GM2A1Oct 20, 2025
GNPTG1Nov 13, 2022
GORAB1Jun 12, 2024
GORAB-AS11Jun 12, 2024
GPC61May 12, 2026
GPC6-AS21May 12, 2026
GPT22Nov 13, 2022
GUCY2D2Oct 25, 2018
HADHA1May 12, 2026
HEXB1Oct 25, 2018
HNRNPUL2-BSCL23Jun 12, 2024
HPS61Oct 25, 2018
HR1Oct 25, 2018
HSD11B24Jun 12, 2024
HSPG22Oct 25, 2018
IDS1Nov 13, 2022
IFT1401May 12, 2026
IVD3Oct 25, 2018
JAM31Sep 20, 2022
KCNH11Nov 13, 2022
KCNJ101May 12, 2026
KCNQ21Sep 20, 2022
KCTD71Oct 25, 2018
LALTOP1Oct 25, 2018
LAMA22Oct 25, 2018
LDLR1Oct 25, 2018
LHX31Oct 25, 2018
LIFR1Jun 12, 2024
LINS11Nov 13, 2022
LOC1053715662Oct 25, 2018
LOC1060293121Jun 12, 2024
LOC1060501021Nov 13, 2022
LOC1070328252Oct 25, 2018
LOC1070753171Oct 25, 2018
LOC1074575851Oct 20, 2025
LOC1116744751Oct 25, 2018
LOC1118119651Apr 13, 2026
LOC1136338771Oct 25, 2018
LOC1268596901Oct 25, 2018
LOC1268616661Oct 25, 2018
LOC1299290532Oct 25, 2018
LOC1299355941Jun 12, 2024
LOC1299923041Jun 13, 2024
LOC1299938952Oct 20, 2025
LOC1300045781Oct 25, 2018
LOC1300593941May 12, 2026
LOC1300600411Oct 25, 2018
LOC1300667881Oct 25, 2018
LYST1Oct 25, 2018
MAN2B11Oct 25, 2018
MBOAT71Jun 13, 2024
MCIDAS1Oct 20, 2025
MCM3AP1Nov 13, 2022
MCOLN11Oct 25, 2018
MEFV1Oct 25, 2018
MFRP1Jun 13, 2024
MINPP11Sep 20, 2022
MIR4733HG1Apr 13, 2026
MKKS1May 12, 2026
MOCS11May 12, 2026
MPV171Oct 25, 2018
MTHFR1Oct 25, 2018
MTMR21Oct 25, 2018
MVP-DT1Oct 25, 2018
MYO15A2Oct 25, 2018
MYO7A1Oct 25, 2018
NAGLU2Oct 25, 2018
NBN1Oct 25, 2018
NCAPG21Nov 13, 2022
NCF11Jun 12, 2024
NDUFS21Jun 12, 2024
NEB1Oct 25, 2018
NEK101Oct 20, 2025
NEUROD21Nov 13, 2022
NF149Apr 13, 2026
NHLRC11Oct 25, 2018
NICN11Oct 25, 2018
NIPBL1Nov 13, 2022
NKX6-21Sep 20, 2022
NLGN31Nov 13, 2022
NOD21Oct 25, 2018
NPC11Oct 25, 2018
NPHS22Jun 12, 2024
NR0B11Oct 25, 2018
NR2E31Oct 25, 2018
NRL1Oct 25, 2018
ODAD21Oct 20, 2025
OPA11May 12, 2026
PARS21May 12, 2026
PCCA1Oct 25, 2018
PCCB1Oct 25, 2018
PGAP31Sep 20, 2022
PHKG21Oct 25, 2018
PIGA1Jun 13, 2024
PKD11Jun 13, 2024
PKHD13Dec 30, 2023
PLA2G64Sep 20, 2022
PLCB42Sep 20, 2022
PLP11Sep 20, 2022
PLPBP1May 12, 2026
PNKD1Jun 12, 2024
POC1A1May 12, 2026
POLG1Jun 12, 2024
POLGARF1Jun 12, 2024
POLR1C2Oct 20, 2025
POU1F11Sep 20, 2022
PPP1R211May 12, 2026
PRDM131May 12, 2026
PRF14Jun 12, 2024
PRRT21Oct 25, 2018
PTPN231Nov 13, 2022
PYCR11Oct 25, 2018
PYCR21Jun 13, 2024
QDPR1Jun 13, 2024
RAB3GAP13Oct 25, 2018
RAB9B1Sep 20, 2022
RAD501Jun 13, 2024
RET1Oct 25, 2018
RIF11Oct 25, 2018
ROR22Oct 25, 2018
RPE651Oct 25, 2018
RPL51May 12, 2026
RSPH4A3Oct 20, 2025
RSPH91Oct 20, 2025
RXYLT11Nov 13, 2022
SACS4Jun 13, 2024
SDR9C71May 12, 2026
SELENON1Jun 12, 2024
SERAC12Jun 13, 2024
SGCA1May 12, 2026
SHROOM41Nov 13, 2022
SIGMAR11Oct 25, 2018
SLC19A11Oct 25, 2018
SLC25A11Nov 13, 2022
SLC37A41Oct 25, 2018
SLC4A11Jun 13, 2024
SLC52A32Oct 25, 2018
SLC6A82Sep 20, 2022
SLC6A91May 12, 2026
SMARCA21Oct 25, 2018
SPAG11Oct 20, 2025
SPART1Oct 25, 2018
SPINK11Oct 25, 2018
SPINK51Oct 25, 2018
SUCLA21Jun 13, 2024
SUOX1Oct 25, 2018
SV2A1Jun 13, 2024
SYN11May 12, 2026
TARS21Oct 25, 2018
TBCE1Oct 25, 2018
TCF41Sep 20, 2022
TDP21May 12, 2026
TGM12Jun 13, 2024
THRB1Oct 25, 2018
TMEM1381Oct 25, 2018
TMEM671Oct 25, 2018
TNFRSF1A2Dec 30, 2023
TPO2Oct 25, 2018
TPP11Oct 25, 2018
TREX11Oct 25, 2018
TRIM371Oct 25, 2018
TRMT12May 12, 2026
TSHR1Oct 25, 2018
TSHR-AS11Oct 25, 2018
TULP11May 12, 2026
UFC11Sep 20, 2022
UGP21Sep 20, 2022
USH1C1Nov 13, 2022
UTP14C2May 12, 2026
VPS13B1Jun 13, 2024
VPS13D1May 12, 2026
WDR192May 12, 2026
WDR722Oct 25, 2018
WNT10B1Oct 25, 2018
XYLT21May 12, 2026

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2Jun 13, 2024
3M syndrome 12Oct 25, 2018
ALG11-congenital disorder of glycosylation2May 12, 2026
ALG8 congenital disorder of glycosylation1May 12, 2026
Achondroplasia1May 30, 2023
Achromatopsia 21Oct 25, 2018
Adenosine kinase deficiency1May 12, 2026
Aicardi-Goutieres syndrome 11Oct 25, 2018
Alopecia universalis congenita1Oct 25, 2018
Amelogenesis imperfecta hypomaturation type 2A32Oct 25, 2018
Androgen resistance syndrome1Oct 25, 2018
Anemia, nonspherocytic hemolytic, due to G6PD deficiency4Jun 12, 2024
Apparent mineralocorticoid excess4Jun 12, 2024
Argininosuccinate lyase deficiency1Oct 25, 2018
Arrhythmogenic right ventricular dysplasia 111Oct 25, 2018
Aspartylglucosaminuria1Oct 25, 2018
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1Sep 20, 2022
Atypical glycine encephalopathy1May 12, 2026
Auriculocondylar syndrome 22Sep 20, 2022
Autism, susceptibility to, X-linked 11Nov 13, 2022
Autosomal recessive Robinow syndrome2Oct 25, 2018
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1May 12, 2026
Autosomal recessive congenital ichthyosis 12Jun 13, 2024
Autosomal recessive congenital ichthyosis 22Oct 25, 2018
Autosomal recessive congenital ichthyosis 31Oct 25, 2018
Autosomal recessive distal spinal muscular atrophy 21Oct 25, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2B3Oct 25, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2D1May 12, 2026
Autosomal recessive multiple pterygium syndrome1Oct 25, 2018
Autosomal recessive nonsyndromic hearing loss 32Oct 25, 2018
Autosomal recessive omodysplasia1May 12, 2026
Autosomal recessive polycystic kidney disease2Oct 25, 2018
Axial spondylometaphyseal dysplasia1May 12, 2026
Becker muscular dystrophy1May 12, 2026
Blau syndrome1Oct 25, 2018
Breast-ovarian cancer, familial, susceptibility to, 21Oct 25, 2018
Brown-Vialetto-van Laere syndrome 12Oct 25, 2018
CBL-related disorder1May 12, 2026
Carnitine palmitoyl transferase II deficiency, severe infantile form2May 12, 2026
Cerebrooculofacioskeletal syndrome 11Nov 13, 2022
Ceroid lipofuscinosis, neuronal, 6A1Oct 25, 2018
Charcot-Marie-Tooth disease type 4B11Oct 25, 2018
Charlevoix-Saguenay spastic ataxia4Jun 13, 2024
Chédiak-Higashi syndrome1Oct 25, 2018
Citrullinemia type I1Mar 7, 2024
Classic homocystinuria1Oct 25, 2018
Cohen syndrome1Jun 13, 2024
Combined oxidative phosphorylation defect type 211Oct 25, 2018
Combined oxidative phosphorylation defect type 81Oct 25, 2018
Cone-rod dystrophy 211May 12, 2026
Congenital adrenal hypoplasia, X-linked1Oct 25, 2018
Congenital generalized lipodystrophy type 23Jun 12, 2024
Congenital generalized lipodystrophy type 41Oct 25, 2018
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome3Mar 7, 2024
Congenital myasthenic syndrome 4C1Oct 25, 2018
Congenital myotonia, autosomal recessive form1Oct 25, 2018
Cornelia de Lange syndrome 11Nov 13, 2022
Creatine transporter deficiency2Sep 20, 2022
Cutis laxa with osteodystrophy2Oct 25, 2018
Cystic fibrosis6Jun 12, 2024
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Jun 13, 2024
Deficiency of alpha-mannosidase1Oct 25, 2018
Deficiency of iodide peroxidase2Oct 25, 2018
Developmental and epileptic encephalopathy, 291Sep 20, 2022
Developmental and epileptic encephalopathy, 71Sep 20, 2022
Developmental and epileptic encephalopathy, 721Nov 13, 2022
Developmental and epileptic encephalopathy, 751May 12, 2026
Developmental and epileptic encephalopathy, 831Sep 20, 2022
Diamond-Blackfan anemia 61May 12, 2026
Dihydropteridine reductase deficiency1Jun 13, 2024
EAST syndrome1May 12, 2026
Ehlers-Danlos syndrome, classic type, 11May 12, 2026
Eichsfeld type congenital muscular dystrophy1Jun 12, 2024
Enhanced S-cone syndrome1Oct 25, 2018
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1May 12, 2026
Epilepsy, early-onset, vitamin B6-dependent1May 12, 2026
Familial Mediterranean fever, autosomal dominant1Oct 25, 2018
Familial hemophagocytic lymphohistiocytosis 24Jun 12, 2024
Fowler syndrome1Nov 13, 2022
Fragile X syndrome1Oct 25, 2018
Fragile X-associated tremor/ataxia syndrome1Oct 25, 2018
Fumarase deficiency1Jun 12, 2024
GNPTG-mucolipidosis1Nov 13, 2022
Galactosylceramide beta-galactosidase deficiency1Jun 13, 2024
Geroderma osteodysplastica1Jun 12, 2024
Giant axonal neuropathy 11Oct 25, 2018
Glaucoma 3A4Jun 12, 2024
Glucose-6-phosphate transport defect1Oct 25, 2018
Glutamate pyruvate transaminase 2 deficiency2Nov 13, 2022
Glutaric aciduria, type 13May 12, 2026
Glycine encephalopathy4Oct 25, 2018
Glycogen storage disease IXc1Oct 25, 2018
Glycogen storage disease type III1May 12, 2026
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11Jun 12, 2024
Grebe syndrome1Jun 12, 2024
Greig cephalopolysyndactyly syndrome1May 12, 2026
Hereditary pancreatitis3Oct 25, 2018
Hereditary spastic paraplegia 231Nov 13, 2022
Hereditary spastic paraplegia 352May 12, 2026
Hereditary spastic paraplegia 541Oct 25, 2018
Hermansky-Pudlak syndrome 61Oct 25, 2018
Hyaline fibromatosis syndrome1Oct 25, 2018
Hypercholesterolemia, familial, 11Oct 25, 2018
Hyperekplexia 11Oct 25, 2018
Hyperphosphatasia with intellectual disability syndrome 41Sep 20, 2022
Hypoparathyroidism-retardation-dysmorphism syndrome1Oct 25, 2018
Hypothyroidism due to TSH receptor mutations1Oct 25, 2018
Ichthyosis, congenital, autosomal recessive 131May 12, 2026
Infantile convulsions and choreoathetosis1Oct 25, 2018
Infantile neuroaxonal dystrophy2Sep 20, 2022
Intellectual developmental disorder, autosomal recessive 682May 12, 2026
Intellectual disability, X-linked 931Oct 25, 2018
Intellectual disability, autosomal recessive 271Nov 13, 2022
Intellectual disability, autosomal recessive 571Jun 13, 2024
Intellectual disability-epilepsy-extrapyramidal syndrome1May 12, 2024
Isolated microphthalmia 51Jun 13, 2024
Isovaleryl-CoA dehydrogenase deficiency3Oct 25, 2018
Joubert syndrome 161Oct 25, 2018
Joubert syndrome 171Jun 13, 2024
Khan-Khan-Katsanis syndrome1Nov 13, 2022
Kindler syndrome2Jun 12, 2024
Kniest dysplasia1Oct 25, 2018
Knobloch syndrome1Oct 25, 2018
Lafora disease1Oct 25, 2018
Leber congenital amaurosis 12Oct 25, 2018
Leber congenital amaurosis 151May 12, 2026
Leber congenital amaurosis 21Oct 25, 2018
Lethal Kniest-like syndrome1Oct 25, 2018
Lethal acantholytic epidermolysis bullosa1May 12, 2026
Lethal congenital contracture syndrome 111May 12, 2026
Leukodystrophy, hypomyelinating, 101Jun 13, 2024
Leukodystrophy, hypomyelinating, 21Jun 12, 2024
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2May 12, 2026
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1May 12, 2026
Maple syrup urine disease4Oct 25, 2018
Maple syrup urine disease type 1A3Jun 13, 2024
Marfan syndrome1Dec 6, 2023
McKusick-Kaufman syndrome1May 12, 2026
Meckel syndrome, type 31Oct 25, 2018
Medium-chain acyl-coenzyme A dehydrogenase deficiency1Dec 6, 2023
Merosin deficient congenital muscular dystrophy2Oct 25, 2018
Metachromatic leukodystrophy1Oct 25, 2018
Methylmalonic acidemia with homocystinuria, type cblJ1May 12, 2026
Microcephaly, developmental delay, and brittle hair syndrome1Nov 13, 2022
Microcephaly, normal intelligence and immunodeficiency1Oct 25, 2018
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1Oct 25, 2018
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1Jun 13, 2024
Mitochondrial complex I deficiency, nuclear type 61Jun 12, 2024
Mitochondrial complex IV deficiency, nuclear type 171Jun 12, 2024
Mitochondrial dna depletion syndrome 14A (encephalomyopathic type)1May 12, 2026
Mucolipidosis type IV1Oct 25, 2018
Mucopolysaccharidosis type 61Oct 25, 2018
Mucopolysaccharidosis, MPS-II1Nov 13, 2022
Mucopolysaccharidosis, MPS-III-B2Oct 25, 2018
Mucopolysaccharidosis, MPS-IV-A1Oct 25, 2018
Mulibrey nanism syndrome1Oct 25, 2018
Multiple acyl-CoA dehydrogenase deficiency1Jun 13, 2024
Multiple congenital anomalies-hypotonia-seizures syndrome 21Jun 13, 2024
Multiple endocrine neoplasia type 2A1Oct 25, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101Nov 13, 2022
Myasthenic syndrome, congenital, 23, presynaptic1Nov 13, 2022
Nemaline myopathy 21Oct 25, 2018
Nephronophthisis 131May 12, 2026
Nephrotic syndrome, type 22Jun 12, 2024
Netherton syndrome1Oct 25, 2018
Neurodegeneration with brain iron accumulation 2B2Oct 25, 2018
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity1Nov 13, 2022
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities1May 12, 2026
Neurodevelopmental disorder with spasticity and poor growth1Sep 20, 2022
Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language1May 12, 2026
Neurofibromatosis, type 149Apr 13, 2026
Neuromuscular disorder, congenital, with dysmorphic facies1May 12, 2026
Neuronal ceroid lipofuscinosis 21Oct 25, 2018
Neuronal ceroid lipofuscinosis 51Oct 25, 2018
Neuronopathy, distal hereditary motor, autosomal recessive 51Oct 25, 2018
Neutropenia, severe congenital, 1, autosomal dominant1Jun 12, 2024
Nicolaides-Baraitser syndrome1Oct 25, 2018
Niemann-Pick disease, type C11Oct 25, 2018
Nijmegen breakage syndrome-like disorder1Jun 13, 2024
Non-acquired combined pituitary hormone deficiency with spine abnormalities1Oct 25, 2018
PYCR1-related de Barsy syndrome1Oct 25, 2018
Papillon-Lefèvre syndrome1Oct 25, 2018
Paroxysmal nonkinesigenic dyskinesia 11Jun 12, 2024
Pelizaeus-Merzbacher disease1Sep 20, 2022
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development1Nov 13, 2022
Pitt-Hopkins syndrome1Sep 20, 2022
Pituitary hormone deficiency, combined, 11Sep 20, 2022
Polycystic kidney disease 41Dec 30, 2023
Polycystic kidney disease, adult type1Jun 13, 2024
Polyglandular autoimmune syndrome, type 11Jun 13, 2024
Pontocerebellar hypoplasia, IIA 171May 12, 2026
Pontocerebellar hypoplasia, type 161Sep 20, 2022
Porencephaly-microcephaly-bilateral congenital cataract syndrome1Sep 20, 2022
Premature ovarian failure 11Oct 25, 2018
Primary ciliary dyskinesia26Oct 20, 2025
Primary ciliary dyskinesia 31May 12, 2026
Primary hyperoxaluria, type I2Oct 25, 2018
Primary intraosseous venous malformation1Jun 13, 2024
Progressive familial intrahepatic cholestasis type 22Dec 6, 2023
Progressive familial intrahepatic cholestasis type 31May 12, 2026
Progressive myoclonic epilepsy type 31Oct 25, 2018
Progressive sclerosing poliodystrophy1Jun 12, 2024
Propionic acidemia2Oct 25, 2018
Pyknodysostosis2Oct 25, 2018
Pyridoxine-dependent epilepsy1Jun 13, 2024
Rajab interstitial lung disease with brain calcifications1Jul 29, 2018
Recessive dystrophic epidermolysis bullosa1Oct 25, 2018
Renal tubular acidosis, distal, 4, with hemolytic anemia1Jun 13, 2024
Retinitis pigmentosa 271Oct 25, 2018
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome1Nov 13, 2022
Saldino-Mainzer syndrome1May 12, 2026
Sandhoff disease1Oct 25, 2018
Schwartz-Jampel syndrome1Oct 25, 2018
See cases1Jun 13, 2024
Senior-Loken syndrome 81Dec 29, 2024
Severe early-childhood-onset retinal dystrophy2May 12, 2026
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1May 12, 2026
Sjögren-Larsson syndrome1Oct 25, 2018
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1Sep 20, 2022
Spastic paraplegia 18a, autosomal dominant1May 12, 2026
Spinocerebellar ataxia, autosomal recessive 231May 12, 2026
Split hand-foot malformation 61Oct 25, 2018
Spondylo-ocular syndrome1May 12, 2026
Spondyloepimetaphyseal dysplasia, Strudwick type1May 12, 2026
Spondyloepiphyseal dysplasia with congenital joint dislocations1Oct 25, 2018
Steinert myotonic dystrophy syndrome1Oct 25, 2018
Stüve-Wiedemann syndrome 11Jun 12, 2024
Sulfite oxidase deficiency1Oct 25, 2018
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1May 12, 2026
Syndromic X-linked intellectual disability Claes-Jensen type1Nov 13, 2022
TNF receptor-associated periodic fever syndrome (TRAPS)2Dec 30, 2023
Tay-Sachs disease, variant AB1Oct 20, 2025
Thanatophoric dysplasia type 11Jun 12, 2024
Thrombophilia due to thrombin defect1Oct 25, 2018
Thyroid hormone resistance, generalized, autosomal recessive1Oct 25, 2018
Troyer syndrome1Oct 25, 2018
Tyrosinemia type I2Oct 25, 2018
Unverricht-Lundborg syndrome1Oct 25, 2018
Usher syndrome type 11Oct 25, 2018
Usher syndrome type 1C1Nov 13, 2022
Van Maldergem syndrome 21Oct 25, 2018
Very long chain acyl-CoA dehydrogenase deficiency2May 12, 2026
Vici syndrome2Oct 25, 2018
Vitelliform macular dystrophy 21Oct 25, 2018
Warburg micro syndrome 13Oct 25, 2018
Wilson disease1Oct 25, 2018
X-linked intellectual disability, Stocco dos Santos type1Nov 13, 2022
Zimmermann-Laband syndrome 11Nov 13, 2022