GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ABCC8 | Permanent Neonatal Diabetes Mellitus With Or Without Neurologic Features, Dend Syndrome | AD,AR | 99.98 | 710 of 712 |
ACADM | Medium Chain Acyl-CoA Dehydrogenase Deficiency | AR | 99.98 | 181 of 181 |
ACTA1 | Congenital Myopathy With Fiber-Type Disproportion, Nemaline Myopathy, Zebra Body Myopathy | AD,AR | 100 | 224 of 224 |
ADCY6 | Lethal Congenital Contracture Syndrome, Hypomyelination Neuropathy- Arthrogryposis Syndrome | AR | 100 | 2 of 2 |
ADGRG6 | Lethal Congenital Contracture Syndrome | AR | 99.91 | NA of NA |
AGRN | Congential Myasthenic Syndrome | AR | 99.71 | 18 of 18 |
AIMP1 | Hypomyelinating Leukodystrophy, Autosomal Recessive Non-Syndromic Intellectual Disability | AR | 100 | 10 of 10 |
AK9 | Postsynaptic Congenital Myasthenic Syndromes | – | 98.37 | 4 of 4 |
ALG14 | Congenital Myasthenic Syndrome | AR | 99.99 | 7 of 7 |
ALG2 | Congenital Disorder Of Glycosylation Type II | AR | 99.61 | 7 of 7 |
ALG3 | Congenital Disorder Of Glycosylation Type Id | AR | 99.2 | 25 of 25 |
ASCC1 | Spinal Muscular Atrophy With Congenital Bone Fractures | AR | 99.97 | 6 of 6 |
ATAD1 | Hereditary Hyperekplexia | AR | 99.97 | 3 of 3 |
AUTS2 | Autosomal Dominant Metal Retardation, Autism Spectrum Disorder | AD | 99.63 | 9 of 17 |
BICD2 | Autosomal Dominant Childhood- Onset Proximal Spinal Muscular Atrophy | AD | 99.94 | 39 of 39 |
BIN1 | Autosomal Recessive Centronuclear Myopathy, Autosomal Dominant Centronuclear Myopathy | AR | 100 | 20 of 20 |
C12ORF65 | Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Spastic Paraplegia | AR | na | na |
CACNA1E | Epileptic Encephalopathy | AD | 99.94 | 25 of 25 |
CASK | Nonspherocytic Hemolytic Anemia, Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, Early Infantile Epileptic Encephalopathy | X,XR,XD,G | 99.98 | NA of NA |
CCDC47 | Trichohepatoneu- rodevelopmental Syndrome | AR | 99.94 | 5 of 5 |
CDK5 | Lissencephaly With Cerebellar Hypoplasia | AR | 100 | 5 of 5 |
CEP55 | Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly, Meckel Syndrome | AR | 99.22 | 3 of 3 |
CFL2 | Nemaline Myopathy | AR | 99.98 | 9 of 9 |
CHAT | Congenital Myasthenic Syndrome AssociatedWith Episodic Apnea | AR | 100 | 49 of 49 |
CHMP1A | Pontocerebellar Hypoplasia Type 8 | AR | 100 | 4 of 4 |
CHRNA1 | Multiple Pterygium Syndrome, Congenital Myasthenic Syndrome | AD,AR | 100 | 35 of 35 |
CHRNB1 | Congential Myasthenic Syndrome | AD,AR | 95 | 9 of 9 |
CHRND | Multiple Pterygium Syndrome, Congenital Myasthenic Syndrome, Congenital | AD,AR | 100 | 31 of 31 |
CHRNE | Familial Infantile Myasthenia, Congenital Myasthenic Syndrome | AD,AR | 99.87 | 138 of 138 |
CHRNG | Multiple Pterygium Syndrome | AR | 100 | 36 of 36 |
CHST14 | Musculocontractural Ehlers-Danlos Syndrome | AR | 97.7 | 21 of 22 |
CHUK | Cocoon Syndrome | AR | 100 | 5 of 5 |
CNTNAP1 | Lethal Congenital Contracture Syndrome, Congenital Hypomyelinating Neuropathy | AR | 99.97 | 25 of 25 |
COL13A1 | Congenital Myasthenic Syndrome | AR | 99.97 | 16 of 16 |
COL6A2 | Bethlem Myopathy, Congenital Myosclerosis, Ullrich Congenital Muscular Dystrophy | AD,AR | 100 | 223 of 225 |
COLQ | Endplate Acetylcholinesterase Deficiency, Synaptic Congenital Myasthenic Syndromes | AR | 100 | 70 of 71 |
DHCR24 | Desmosterolosis | AR | 100 | 10 of 10 |
DOK7 | Fetal Akinesia Deformation Sequence, Limb-Girdle Myasthenia, Postsynaptic Congenital Myasthenic Syndromes | AR | 99.88 | 72 of 72 |
DPAGT1 | Congenital Disorder Of Glycosylation, Type Ij, Congenital Myasthenic Syndrome | AR | 100 | 41 of 41 |
DSE | Musculocontractural Ehlers-Danlos Syndrome | AR | 99.94 | 3 of 3 |
ECEL1 | Distal Arthrogryposis Type 5d | AR | 99.52 | 39 of 39 |
EGR2 | Demyelinating Charcot-Marie- Tooth Disease Type 1d, Hypertrophic Neuropathy Of Dejerine-Sottas, Congenital Hypomyelinating Neuropathy | AD,AR | 100 | 23 of 23 |
ERBB3 | Lethal Congenital Contracture Syndrome | AD,AR | 99.91 | 6 of 6 |
ERCC1 | Cerebrooculofacioskeletal Syndrome, Cockayn Syndrome Type 2 | AR | 93.12 | 6 of 6 |
ERCC2 | Cerebrooculofacioskeletal Syndrome, Xeroderma Pigmentosum Complementation Group D, Xeroderma Pigmentosum- Cockayne Syndrome Complex | AR | 100 | 102 of 102 |
ERCC5 | Cerebrooculofacioskeletal Syndrome, Xeroderma Pigmentosum Complementation Group G, Xeroderma Pigmentosum- Cockayne Syndrome Complex | AR | 99.94 | 58 of 58 |
ERCC6 | Cerebrooculofacioskeletal Syndrome, Cockayne Syndrome Type B, De Sanctis-Cacchione Syndrome Type 3 | AD,AR | 99.98 | 127 of 128 |
ERGIC1 | Neurogenic Arthrogryposis Multiplex Congenita | AR | 100 | 2 of 2 |
EXOSC3 | Pontocerebellar Hypoplasia Type 1b | AR | 100 | 19 of 20 |
FAM20C | Lethal Osteosclerotic Bone Dysplasia | AR | 97.8 | 29 of 29 |
FBN2 | Congenital Contractural Arachnodactyly | AD | 100 | 115 of 115 |
FHL1 | Reducing Body Myopathy, Scapuloperoneal Myopathy, Uruguay Faciocardiomus- culoskeletal Syndrome, X-linked Emery- Dreifuss Muscular Dystrophy | X,XR,XD,G | 99.98 | NA of NA |
FIG4 | Amyotrophic Lateral Sclerosis, Charcot- Marie-Tooth Disease Type 4j, Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal , Polymicrogyria, Bilateral Temporooccipital, Yunis-Varon Syndrome | AD,AR | 99.92 | 72 of 72 |
FKBP10 | Bruck Syndrome, Osteogenesis Imperfecta Type XI, Kuskokwim Syndrome | AR | 100 | 51 of 51 |
FKTN | Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Limb-Girdle Muscular Dystrophy Type 2m, Congenital Muscular Dystrophy, Muscle- Eye-Brain Disease, Walker-Warburg Syndrome | AR | 98 | 54 of 56 |
FLAD1 | Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency | AR | 97.13 | 13 of 14 |
FLVCR2 | Proliferative Vasculopathy And Hydranencephaly- Hydrocephaly Syndrome | AR | 99.97 | 16 of 16 |
GBA | Gaucher Disease- Ophthalmoplegia- Cardiovascular Calcification Syndrome, Hereditary Late- Onset Parkinson Disease | AD,AR | 100 | 469 of 471 |
GBE1 | Glycogen Storage Disease IV, Adult Polyglucosan Body Disease | AR | 99.95 | 71 of 74 |
GCK | Permanent Neonatal Diabetes Mellitus, Familial Hyperinsulinemic Hypoglycemia | AD,AR | 100 | 905 of 909 |
GFM2 | Combined Oxidative Phosphorylation Deficiency Type 39 | AR | 99.35 | 5 of 7 |
GFPT1 | Congenital Myasthenic Syndromes With Glycosylation Defect | AR | 100 | 57 of 57 |
GLDN | Lethal Congenital Contracture Syndrome | AR | 98.46 | 13 of 13 |
GLE1 | Congenital Arthrogryposis With Anterior Horn Cell Disease, Lethal Congenital Contracture Syndrome, Amyotrophic Lateral Sclerosis | AR | 100 | 17 of 17 |
GLI3 | Greig Cephalopo- lysyndactyly Syndrome, Congenital Hypothalamic Hamartoma Syndrome, Pallister- Hall Syndrome, Postaxial and Preaxial Polydactyly, Acrocallosal Syndrome | AD,AR | 100 | 231 of 231 |
GMPPB | Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Congential Muscular Dystrophy With Cerebellar Involvement, Congenital Myasthenic Syndromes With Glycosylation Defect, Muscle-Eye -Brain Disease | AR | 99.95 | 53 of 53 |
HSPG2 | Dyssegmental Dysplasia, Silverman –Handmaker Type, Schwartz-Jampel Syndrome | AR | 99.41 | 68 of 69 |
HYMAI | Paternal Uniparental Disomy Of Chromosome 6, Transient Neonatal Diabetes Mellitus | AD | na | na |
IBA57 | Multiple Mitochondrial Dysfunctions Syndrome, Autosomal Recessive Spastic Paraplegia | AR | 93.35 | 25 of 27 |
INS | Permanent Neonatal Diabetes Mellitus, Hyperproinsulinemia | AD,AR | 100 | 78 of 84 |
ITGA6 | Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Junctional Epidermolysis Bullosa- Pyloric Atresia Syndrome | AR | 100 | 10 of 10 |
ITGB4 | Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Epidermolysis Bullosa Simplex Weber-Cockayne Type, Aplasia Cutis Congenita | AD,AR | 99.12 | 115 of 115 |
KAT6B | Genitopatellar Syndrome, Ohdo Syndrome, Blepharophimosis– Intellectual Disability Syndrome | AD | 99.97 | 80 of 80 |
KBTBD13 | Childhood-Onset Nemaline Myopathy | AD | 99.66 | 15 of 15 |
KCNJ11 | Permanent Neonatal Diabetes Mellitus With Or Without Neurologic Features, Hyperinsulinemic Hypoglycemia, Dend Syndrome | AD,AR | 100 | 190 of 191 |
KIAA1109 | Alkuraya-Kucinskas Syndrome | AR | 99.95 | 21 of 21 |
KIF14 | Meckel Syndrome, Autosomal Recessive Primary Microcephaly | AR | 99.84 | 18 of 18 |
KIF1A | Autosomal Dominant Mental Retardation Neuropathy, Hereditary Sensory And Autonomic Type II, Autosomal Spastic Paraplegia Type 30, Peho Syndrome | AD,AR | 100 | 76 of 76 |
KIF5C | Cortical Dysplasia, Complex, With Other Brain Malformations | AD | 99.96 | 7 of 7 |
KLHL40 | Severe Congenital Nemaline Myopathy | AR | 99.98 | 26 of 26 |
KLHL41 | Childhood-Onset Nemaline Myopathy | AR | 99.92 | 8 of 8 |
LAMB2 | Pierson Syndrome , Synaptic Congenital Myasthenic Syndromes | AR | 100 | 129 of 129 |
LGI4 | Arthrogryposis Multiplex Congenita, Neurogenic, With Myelin Defect , Hypomyelination Neuropathy- Arthrogryposis Syndrome | AR | 99.86 | 9 of 9 |
LMNA | Charcot-Marie-Tooth Disease Axonal Type 2b1 , Emery-Dreifuss Muscular Dystrophy , Heart-Hand Syndrome, Hutchinson -Gilford Progeria Syndrome, Familial Partial Lipodystrophy Type 2, Malouf Syndrome, Mandibuloacral Dysplasia, Congenital Muscular Dystrophy, Atypical Werner Syndrome | AD,AR | 100 | 619 of 620 |
LMOD3 | Severe Congenital Nemaline Myopathy | AR | 98.68 | 23 of 26 |
LRP4 | Cenani-Lenz Syndactyly Syndrome, Congenital Myasthenic Syndrome, Sclerosteosis, Cenani-Lenz Syndrome | AD,AR | 100 | 32 of 32 |
MAGEL2 | Prader-Willi Syndrome | AD | 99.99 | 43 of 48 |
MED13L | Mental Retardation And Distinctive Facial Features With Or Without Cardiac Defects, Developmental Delay-Facial Dysmorphism Syndrome | AD | 100 | 90 of 92 |
MPZ | Axonal Type Charcot- Marie-Tooth Disease, Demyelinating Type Charcot-Marie-Tooth Disease, Hypertrophic Neuropathy Of Dejerine-Sottas, Congenital Hypomyelinating Neuropathy, Roussy– Levy Hereditary Areflexic Dystasia, Charcot-Marie- Tooth Disease Type 1b, Roussy-Levy Syndrome | AD,AR | 99.98 | 245 of 245 |
MTM1 | Myotubular Myopathy, X-linked Centronuclear Myopathy , X-linked Myotubular Myopathy -Abnormal Genitalia Syndrome | X,XR,G | 99.98 | NA of NA |
MUSK | Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome | AR | 95.58 | 23 of 25 |
MYBPC1 | Distal Arthrogryposis Type 1b, Lethal Congenital Contracture Syndrome, Congenital Myopathy With Tremor, Digitotalar Dysmorphism | AD,AR | 100 | 13 of 13 |
MYH2 | Proximal Myopathy And Ophthalmoplegia | AD,AR | 99.98 | 31 of 31 |
MYH3 | Distal Arthrogryposis, Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome, Autosomal Recessive Multiple Pterygium Syndrome, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Sheldon-Hall Syndrome | AD,AR | 100 | 46 of 47 |
MYH8 | Carney Complex Variant, Trismus- Pseudocamptodactyly Syndrome | AD | 100 | 6 of 6 |
MYO9A | Congenital Myasthenic Syndrome | AR | 99.62 | 7 of 7 |
MYOD1 | Congenital Myopathy With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies, Fetal Akinesia Deformation Sequence | AR | 99.97 | 6 of 6 |
MYPN | Nemaline Myopathy, Childhood-Onset Nemaline Myopathy | AD,AR | 99.94 | 49 of 49 |
NALCN | Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia- Speech Impairment- Severe Cognitive Delay Syndrome, Sheldon-Hall Syndrome | AD,AR | 99.97 | 69 of 69 |
NEB | Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy | AR | 86.77 | 304 of 339 |
NEK9 | Arthrogryposis, Perthes Disease, And Upward Gaze Palsy, Lethal Congenital Contracture Syndrome | AR | 99.98 | 4 of 4 |
NUP88 | Fetal Akinesia Deformation Sequence | AR | 95.82 | 3 of 3 |
PDX1 | Pancreatic Permanent Neonatal Diabetes Mellitus | AD,AR | 98.02 | 32 of 36 |
PHGDH | Neu-Laxova Syndrome, Phosphoglycerate Dehydrogenase Deficiency | AR | 100 | 26 of 26 |
PI4KA | Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis | AR | 99.76 | 4 of 4 |
PIEZO2 | Distal Arthrogryposis, Gordon Syndrome, Marden-Walker Syndrome, Arthrogryposis- Oculomotor Limitation- Electroretinal Anomalies Syndrome | AD,AR | 96.93 | 37 of 37 |
PIGS | Glycosylphospha- tidylinositol Biosynthesis Defect | AR | 100 | 6 of 6 |
PIP5K1C | Lethal Congenital Contracture Syndrome | AR | 99.83 | 3 of 3 |
PLAGL1 | Paternal Uniparental Disomy Of Chromosome 6, Transient Neonatal Diabetes Mellitus | – | 95.56 | 2 of 2 |
PLEC | Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Epidermolysis Bullosa Simplex | AD,AR | 99.98 | 113 of 113 |
PLOD2 | Bruck Syndrome | AR | 99.97 | 29 of 29 |
PLXND1 | Moebius Syndrome | – | 98.44 | 6 of 6 |
PMM2 | Congenital Disorder Of Glycosylation Type Ia | AR | 100 | 127 of 129 |
PPP3CA | Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development, Undetermined Early- Onset Epileptic Encephalopathy | AD | 99.98 | 16 of 16 |
PREPL | Congenital Myasthenic Syndrome, 2p21 Microdeletion Syndrome, Hypotonia-Cystinuria Syndrome | AR | 99.92 | 7 of 12 |
PSAT1 | Neu-Laxova Syndrome, Phosphoserine Aminotransferase Deficiency | AR | 99.95 | 9 of 9 |
PSMB8 | Proteasome-Associated Autoinflammatory Syndrome 1 And Digenic Forms | AR | 100 | 11 of 11 |
RAPSN | Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome | AR | 99.98 | 59 of 61 |
RARS2 | Pontocerebellar Hypoplasia Type 6 | AR | 99.98 | 39 of 40 |
REV3L | Moebius Syndrome | | 99.08 | 7 of 7 |
RFT1 | Congenital Disorder Of Glycosylation Type In | AR | 99.98 | 18 of 18 |
RIPK4 | Popliteal Pterygium Syndrome Lethal Type, Bartsocas-Papas Syndrome, Chand Syndrome | AR | 99.98 | 16 of 16 |
RYR1 | Central Core Disease Of Muscle, Minicore Myopathy With External Ophthalmoplegia, Myopathy, Congenital, With Fiber-Type Disproportion, Centronuclear Myopathy, Congenital Multicore Myopathy With External Ophthalmoplegia, Congenital Myopathy With Myasthenic-Like Onset | AD,AR | 97.63 | 733 of 746 |
SCN4A | Congenital Myasthenic Syndrome, Paramyotonia Congenita Of Von Eulenburg | AD,AR | 99.77 | 136 of 142 |
SCO2 | Autosomal Recessive Axonal Charcot-Marie- Tooth Disease Due To Copper Metabolism Defect, Leigh Syndrome With Cardiomyopathy | AD,AR | 100 | 38 of 38 |
SELENON | Congoenital Myopathy With Fiber-Type Disproportion, Rigid Spine Muscular Dystrophy, Classic Multiminicore Myopathy | AD,AR | 89 | NA of NA |
SHPK | Isolated Sedoheptulokinase Deficiency | – | 99.96 | 2 of 2 |
SLC18A3 | Congenital Myasthenic Syndrome, Fetal Akinesia Deformation Sequence | AR | 99.97 | 5 of 5 |
SLC25A1 | Congenital Myasthenic Syndrome | AR | 90 | 23 of 25 |
SLC35A3 | Arthrogryposis, Mental Retardation, And Seizures, Autism Spectrum Disorder- Epilepsy- Arthrogryposis Syndrome | AR | 99.94 | 5 of 5 |
SLC5A7 | Congenital Myasthenic Syndrome, Distal Neuronopathy Hereditary Motor Type VIIa | AD,AR | 99.92 | 21 of 21 |
SLC6A9 | Glycine Encephalopathy With Normal Serum Glycine | AR | 99.99 | 5 of 5 |
SLC9A6 | Christianson Syndrome | X,XD,G | 98.87 | NA of NA |
SMN1 | Spinal Muscular Atrophy | AR | 5.2 | 17 of 91 |
SMN2 | Spinal Muscular Atrophy | AR | 7.6 | 0 of 3 |
SNAP25 | Congenital Myasthenic Syndromes | AD | 100 | 6 of 6 |
SOX10 | Peripheral Demyelinating Neuropathy, Waardenburg Syndrome | AD | 99.74 | 139 of 147 |
STAC3 | Native American Myopathy | AR | 99.98 | 5 of 5 |
STAT3 | Multisystem Autoimmune Disease, Permanent Neonatal Diabetes Mellitus | AD | 100 | 171 of 171 |
STIM1 | Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect, Myopathy, Tubular Aggregate, Stormorken Syndrome, Stormorken-Sjaastad- Langslet Syndrome, Tubular Aggregate Myopathy | AD,AR | 100 | 28 of 28 |
SYNE1 | Arthrogryposis Multiplex Congenita, Emery- Dreifuss Muscular Dystrophy, Autosomal Recessive Spinocerebellar Ataxia | AD,AR | 99.99 | 193 of 193 |
SYT2 | Congenital Myasthenic Syndrome With Or Without Motorneuropathy | AD | 99.98 | 4 of 4 |
TBCD | Progressive Encephalopathy, Early-Onset, With Brain Atrophy And Thin Corpus Callosum | AR | 94.89 | 28 of 28 |
TGFB3 | Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection | AD | 100 | 34 of 35 |
TK2 | External Ophthalmoplegia With Mitochondrial DNA Deletions | AR | 97.08 | 64 of 65 |
TNNI2 | Distal Arthrogryposis Type 2b, Digitotalar Dysmorphism, Sheldon-Hall Syndrome | AD | 100 | 11 of 11 |
TNNT1 | Nemaline Myopathy | AR | 89.94 | 7 of 8 |
TNNT3 | Distal Arthrogryposis, Digitotalar Dysmorphism, Sheldon-Hall Syndrome | AD | 99.98 | 5 of 5 |
TPM2 | Distal Arthrogryposis, Congenital Myopathy With Fiber-type Disproportion, Nemaline Myopathy, Cap Myopathy, Digitotalar Dysmorphism, Sheldon-Hall Syndrome | AD,AR | 100 | 41 of 41 |
TPM3 | Congenital Myopathy With Fiber-Type Disproportion, Nemaline Myopathy, Cap Myopathy | AD,AR | 100 | 27 of 27 |
TRIP4 | Congenital Muscular Dystrophy, Spinal Muscular Atrophy With Congenital Bone Fractures, Congenital Muscular Dystrophy-Respiratory- Skin Abnormalities- Joint Hyperlaxity Syndrome | AR | 99.92 | 3 of 3 |
TRPV4 | Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, Metatropic Dysplasia, Parastremmatic Dwarfism Scapuloperoneal Spinal Muscular Atrophy, Spondylometaphyseal Dysplasia | AD | 100 | 88 of 88 |
TSEN2 | Pontocerebellar Hypoplasia | AR | 95.47 | 4 of 5 |
TSEN54 | Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia | AR | 96.94 | 20 of 22 |
UBA1 | Infantile-Onset X- linked Spinal Muscular Atrophy | X,XR,G | 99.58 | NA of NA |
VAMP1 | Spastic Ataxia, Congenital Myasthenic Syndrome | AD,AR | 99.51 | 8 of 8 |
VIPAS39 | Arthrogryposis, Renal Dysfunction, And Cholestasis | AR | 100 | 15 of 15 |
VPS33B | Arthrogryposis, Renal Dysfunction, And Cholestasis | AR | 100 | 62 of 62 |
VRK1 | Pontocerebellar Hypoplasia | AR | 99.64 | 15 of 15 |
YY1 | Gabriele-de Vries Syndrome | AD | 99.89 | 13 of 13 |
ZBTB42 | Lethal Congenital Contracture Syndrome | AR | 99.81 | 1 of 1 |
ZC4H2 | Wieacker-Wolff Syndrome, Intellectual Disability- Developmental Delay-Contractures Syndrome | X,XR,XD,G | 99.69 | NA of NA |
ZFP57 | Transient Neonatal Diabetes Mellitus | AD | 100 | 15 of 15 |
ZMPSTE24 | Mandibuloacral Dysplasia With Type B Lipodystrophy, Hutchinson- Gilford Progeria Syndrome | AR | 100 | 35 of 36 |
ZNF335 | Primary Autosomal Recessive Microcephaly, Microcephalic Primordial Dwarfism | AR | 99.83 | 20 of 20 |
ZNHIT3 | Peho Syndrome | AR | 73.96 | 1 of 1 |