GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ACTB | Baraitser-Winter Syndrome, Juvenile-Onset Dystonia, Developmental Malformations- Deafness-Dystonia Syndrome | AD | 100 | 40 of 40 |
ACTG1 | Baraitser-Winter Syndrome | AD | 98.59 | 55 of 55 |
ADAMTS3 | Hennekam Lymphangiectasia- Lymphedema Syndrome Hennekam Syndrome | AR | 99.97 | 4 of 4 |
ADGRG1 | Bilateral Frontoparietal Polymicrogyria | AR | 100 | NA of NA |
ANKLE2 | Autosomal Recessive Primary Microcephaly | AR | 96.08 | 4 of 4 |
APC2 | Complex Cortical Dysplasia With Other Brain Malformations, Sotos Syndrome | AR | 94.97 | 11 of 11 |
ARHGAP31 | Adams-Oliver Syndrome | AD | 100 | 6 of 6 |
ARX | Agenesis of Corpus Callosum With Abnormal Genitalia, Early Infantile Epileptic Encephalopathy, Lissencephaly, X-linked Mental Retardation With Or Without Seizures, Partington Syndrome, West Syndrome, X-linked Spasticity- Intellectual Disability-Epilepsy Syndrome | X,XR,G | 81.92 | NA of NA |
ASPM | Autosomal Recessive Primary Microcephaly | AR | 99.74 | 221 of 222 |
ATP6V0A2 | Autosomal Recessive Cutis Laxa Type II, Wrinkly Skin Syndrome | AR | 99.99 | 55 of 55 |
ATP6V1A | Autosomal Recessive Cutis Laxa Type II, Undetermined Early-Onset Epileptic Encephalopathy | AD,AR | 99.98 | 9 of 9 |
ATP6V1E1 | Autosomal Recessive Cutis Laxa Type II | AR | 100 | 2 of 2 |
ATR | Familial Cutaneous Telangiectasia And Cancer Syndrome, Seckel Syndrome | AD,AR | 99.98 | 39 of 40 |
B3GALNT2 | Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Autosomal Recessive Non- Syndromic Intellectual Disability , Muscle- Eye-Brain Disease, Walker-Warburg Syndrome | AR | 97.14 | 17 of 17 |
B4GAT1 | Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Walker- Warburg Syndrome | AR | na | na |
CASK | Nonspherocytic Hemolytic Anemia Due To G6PD Deficiency, X-linked Mental Retardation With Or Without Nystagmus, Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, Early Infantile Epileptic Encephalopathy | X,XR,XD,G | 99.98 | NA of NA |
CCBE1 | Hennekam Lymphangiectasia- Lymphedema Syndrome, Hennekam Syndrome | AR | 100 | 16 of 16 |
CCDC88A | Peho-like Syndrome | AR | 91.9 | 3 of 4 |
CDK5 | Lissencephaly With Cerebellar Hypoplasia | AR | 100 | 5 of 5 |
CDK5RAP2 | Autosomal Recessive Primary Microcephaly | AR | 100 | 32 of 32 |
CDK6 | Autosomal Recessive Primary Microcephaly | AR | 100 | 1 of 1 |
CDKL5 | Early Epileptic Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome | X,XD,G | 99.92 | NA of NA |
CENPJ | Autosomal Recessive Primary Microcephaly, Seckel Syndrome | AR | 99.97 | 13 of 13 |
CEP135 | Autosomal Recessive Primary Microcephaly | AR | 99.48 | 7 of 8 |
CEP152 | Autosomal Recessive Primary Microcephaly, Seckel Syndrome | AR | 97.73 | 21 of 24 |
CEP63 | Autosomal Recessive Primary Microcephaly, Seckel Sydrome | AR | 100 | 3 of 3 |
CEP85L | Lissencephaly | AD | 99.73 | 1 of 1 |
CIT | Autosomal Recessive Primary Microcephaly | AR | 99.98 | 17 of 17 |
COL4A1 | Hereditary Angiopathy With Nephropathy, Aneurysms, And Muscle Cramps, Autosomal Dominant Pontine Microangiopathy And Leukoenceph- alopathy, Hanac Syndrome, Walker-Warburg Syndrome | AD | 99.99 | 173 of 173 |
COPB2 | Autosomal Recessive Primary Microcephaly | AR | 99.64 | 4 of 4 |
CPT2 | Carnitine Palmitoyltransferase II Deficiency | AD,AR | 99.99 | 116 of 116 |
CRADD | Autosomal Recessive Mental Retardation With Variant Lissencephaly | AR | 99.62 | 6 of 7 |
CRPPA | Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A and C, Congenital Muscular Dystrophy Without Intellectual Disability, ISPD-related Limb-Girdle Muscular Dystrophy, Walker- Warburg Syndrome | AR | 97.69 | NA of NA |
CSNK2A1 | Okur-Chung Neurodevelopmental Syndrome | AD | 99.95 | 23 of 23 |
CTNNA2 | Complex Cortical Dysplasia With Other Brain Malformations | AR | 99.95 | 8 of 8 |
CTU2 | Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome | AR | 99.93 | 6 of 6 |
DAG1 | Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A and C, Alpha- Dystroglycan-Related Limb-Girdle Muscular Dystrophy, Muscle- Eye-Brain Disease With Bilateral Multicystic Leucodystrophy, Walker-Warburg Syndrome | AR | 99.98 | 9 of 9 |
DCHS1 | Van Maldergem Syndrome, Cerebrofacioarticular Syndrome | AD,AR | 99.69 | 30 of 30 |
DCX | X-linked Lissencephaly | X,G | 100 | NA of NA |
DHCR24 | Desmosterolosis | AR | 100 | 10 of 10 |
DMXL2 | Early Infantile Epileptic Encephalopathy, Polyendocrine- Polyneuropathy Syndrome | AD,AR | 99.83 | 19 of 23 |
DYNC1H1 | Charcot-Marie- Tooth Disease, Axonal, Type 2o, Autosomal Dominant Mental Retardation, Spinal Muscular Atrophy | AD | 100 | 104 of 104 |
EML1 | Band Heterotopia | AR | 98.88 | 7 of 7 |
ETFA | Multiple Acyl-CoA Dehydrogenase Deficiency | AR | 92.33 | 32 of 32 |
ETFB | Multiple Acyl-CoA Dehydrogenase Deficiency | AR | 100 | 21 of 21 |
ETFDH | Multiple Acyl-CoA Dehydrogenase Deficiency | AR | 100 | 221 of 222 |
FAT4 | Hennekam Lymphangiectasia- Lymphedema Syndrome, Van Maldergem Syndrome, Cerebrofacioarticular Syndrome, Hennekam Syndrome | AR | 99.8 | 41 of 41 |
FIG4 | Amyotrophic Lateral Sclerosis, Charcot-Marie- Tooth Disease, Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal, Polymicrogyria, Bilateral Temporooccipital, Amyotrophic Lateral Sclerosis, Bilateral Parasagittal Parieto-occipital Polymicrogyria, Yunis-Varon Syndrome | AD,AR | 99.92 | 72 of 72 |
FKRP | Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A and C, Congenital Muscular Dystrophy With Cerebellar Involvement, Congenital Muscular Dystrophy With Intellectual Disability, Congenital Muscular Dystrophy Without Intellectual Disability , Muscle-Eye-Brain Disease, Walker- Warburg Syndrome | AR | 99.9 | 157 of 157 |
FKTN | Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A and B, Limb- Girdle Muscular Dystrophy Type 2m, Congenital Muscular Dystrophy Without Intellectual Disability, Muscle- Eye-Brain Disease, Walker-Warburg Syndrome | AR | 98 | 54 of 56 |
FLI1 | Platelet-Type Bleeding Disorder, Jacobsen Syndrome, Paris-Trousseau Thrombocytopenia, Peripheral Primitive Neuroectodermal Tumor | AD,AR | 100 | 7 of 7 |
FOXG1 | Rett Syndrome, 14q12 Microdeletion Syndrome, FOXG1 Syndrome | AD | 88.71 | 93 of 109 |
FTO | Growth Retardation, Developmental Delay, and Coarse Facies | AR | 99.91 | 8 of 8 |
GFM2 | Combined Oxidative Phosphorylation Deficiency Type 39 | AR | 99.35 | 5 of 7 |
GMPPB | Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A and B, Limb-Girdle Muscular Dystrophy-Dystrogly- canopathy Type C, Congenital Muscular Dystrophy With Cerebellar Involvement, Congenital Muscular Dystrophy With Intellectual Disability, Congenital Myasthenic Syndromes With Glycosylation Defect, GMPPB-Related Limb-Girdle Muscular Dystrophy, Muscle-Eye-Brain Disease | AR | 99.95 | 53 of 53 |
GNAO1 | Early Infnatile Epileptic Encephalopathy, Neurodevelopmental Disorder With Involuntary Movements | AD | 100 | 47 of 47 |
GPX4 | Spondylometaphyseal Dysplasia | AR | 79.72 | 3 of 3 |
HIC1 | Miller-Dieker Syndrome | – | 97.7 | NA of NA |
ISCA1 | Multiple Mitochondrial Dysfunctions Syndrome | AR | 99.86 | 2 of 2 |
KATNB1 | Lissencephaly With Microcephaly | AR | 100 | 10 of 10 |
KCNA1 | Episodic Ataxia Type 1, Early Infantile Epileptic Encephalopathy, Hereditary Continuous Muscle Fiber Activity, Paroxysmal Kinesigenic Dyskinesia | AD | 100 | 49 of 49 |
KIAA1109 | Alkuraya-Kucinskas Syndrome | AR | 99.95 | 21 of 21 |
KIF14 | Meckel Syndrome, Autosomal Recessive Primary Microcephaly | AR | 99.84 | 18 of 18 |
KIF2A | Complex Cortical Dysplasia With Other Brain Malformations | AD | 99.91 | 7 of 7 |
KIFBP | Goldberg- Shprintzen Syndrome | AR | 99.27 | NA of NA |
KNL1 | Autosomal Recessive Primary Microcephaly | AR | 98.91 | NA of NA |
LAGE3 | Galloway-Mowat Syndrome | X,XR,G | 91.36 | NA of NA |
LAMA2 | Muscular Dystrophy Congenital Merosin- Deficient, Limb-Girdle Muscular Dystrophy, Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy | AR | 100 | 363 of 377 |
LAMB1 | Lissencephaly, Cobblestone Lissencephaly Without Muscular Or Ocular Involvement | AR | 99.97 | 8 of 9 |
LAMC3 | Occipital Cortical Malformations | AR | 98.72 | 22 of 22 |
LARGE1 | Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Congenital Muscular Dystrophy Type 1d, Congenital Muscular Dystrophy With Intellectual Disability, Muscle- Eye-Brain Disease, Walker-Warburg Syndrome | AR | 100 | NA of NA |
MACF1 | Lissencephaly With Complex Brainstem Malformation | AD | 99.94 | 18 of 18 |
MCPH1 | Autosomal Recessive Primary Microcephaly | AR | 99.51 | 18 of 19 |
METTL5 | Intellectual Developmental Disorder, Autosomal Recessive Primary Microcephaly | AR | 99.9 | 4 of 4 |
MFSD2A | Autosomal Recessive Primary Microcephaly | AR | 97.58 | 6 of 6 |
MLYCD | Malonyl-CoA Decarboxylase Deficiency | AR | 93.84 | 32 of 40 |
MPDZ | Autosomal Recessive Nonsyndromic Hydrocephalus | AR | 99.44 | 58 of 58 |
NCAPD3 | Autosomal Recessive Primary Microcephaly | AR | 99.97 | 4 of 5 |
NDE1 | Lissencephaly, Microhydranencephaly, Hydranencephaly | AR | 86.55 | 12 of 13 |
NEK1 | Amyotrophic Lateral Sclerosis, Short Rib- Polydactyly Syndrome Type II, Amyotrophic Lateral Sclerosis, Orofaciodigital Syndrome Type II | AD,AR,MU,D | 99.83 | 73 of 74 |
NEUROD2 | Early Infantile Epileptic Encephalopathy | AD | 96.88 | 2 of 2 |
NSDHL | Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb, Ck Syndrome | X,XR,XD,G | 100 | NA of NA |
NUP107 | Galloway- Mowat Syndrome, Nephrotic Syndrome | AR | 99.91 | 15 of 15 |
NUP133 | Galloway- Mowat Syndrome, Nephrotic Syndrome | AR | 99.94 | 6 of 6 |
OCLN | Pseudo-Torch Syndrome, Congenital Intrauterine Infection-like Syndrome | AR | 86.89 | 15 of 17 |
OSGEP | Galloway-Mowat Syndrome | AR | 99.17 | 19 of 19 |
PAFAH1B1 | Lissencephaly, 17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome | AD | 99.95 | 90 of 92 |
PEX10 | Peroxisome Biogenesis Disorder (Zellweger), Autosomal Recessive Ataxia Due To Pex10 Deficiency, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome | AR | 99.76 | 29 of 32 |
PEX13 | Peroxisome Biogenesis Disorder (Zellweger) Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome | AR | 99.98 | 11 of 12 |
PHC1 | Autosomal Recessive Primary Microcephaly | AR | 91.73 | 1 of 1 |
PHGDH | Neu-Laxova Syndrome, Phosphoglycerate Dehydrogenase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form, Neu-laxova Syndrome | AR | 100 | 26 of 26 |
PI4KA | Presylvian Polymicrogyria With Cerebellar Hypoplasia And Arthrogryposis, Bilateral Perisylvian Polymicrogyria | AR | 99.76 | 4 of 4 |
PIGP | Early Infantile Epileptic Encephalopathy | AR | 99.98 | 2 of 2 |
PIGQ | Early Infantile Epileptic Encephalopathy | AR | 99.99 | 4 of 4 |
PIK3R2 | Megalencephaly– Polymicrogyria- Polydactyly- Hydrocephalus Syndrome | AD | 90.81 | 7 of 7 |
PNKP | Ataxia-Oculomotor Apraxia, Charcot- Marie-Tooth Disease, Early Infantile Epileptic Encephalopathy | AR | 100 | 36 of 36 |
POMGNT1 | Muscular Dystrophy -Dystroglycanopathy (Congenital With Brain And Eye), Muscular Dystrophy- Dystroglycanopathy (Limb-Girdle), Type C, Retinitis Pigmentosa, Congenital Muscular Dystrophy With Cerebellar Involvement, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome | AR | 99.91 | 82 of 83 |
POMGNT2 | Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Muscular Dystrophy- Dystroglyc- anopathy (Limb-Girdle), Type C, Walker-warburg Syndrome | AR | 100 | 10 of 10 |
POMK | Muscular Dystrophy -Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Muscular Dystrophy- Dystroglycanopathy (Limb-Girdle), Type C, Congenital Muscular Dystrophy With Cerebellar Involvement, Walker-Warburg Syndrome | AR | 99.99 | 8 of 8 |
POMT1 | Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Muscular Dystrophy- Dystroglycanopathy (Congenital With Mental Retardation), Type B, Limb-Girdle Muscular Dystrophy Type 2k, Congenital Muscular Dystrophy With Cerebellar Involvement, Congenital Muscular Dystrophy With Intellectual Disability, Muscle-Eye -Brain Disease , POMT1-Related Limb-girdle Muscular Dystrophy, Walker- Warburg Syndrome | AR | 100 | 105 of 105 |
POMT2 | Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Muscular Dystrophy- Dystroglycanopathy (Congenital With Mental Retardation), Type B, Muscular Dystrophy- dystroglycanopathy (Limb-Girdle), Type C, Congenital Muscular Dystrophy With Cerebellar Involvement, Congenital Muscular Dystrophy With Intellectual Disability, Muscle-Eye-Brain Disease , POMT2 -Related Limb-Girdle Muscular Dystrophy, Walker-Warburg Syndrome | AR | 100 | 74 of 74 |
PRKDC | Immunodeficiency With Or Without Neurologic Abnormalities | AR | 99.74 | 9 of 10 |
PSAT1 | Neu-Laxova Syndrome, Phosphoserine Aminotransferase Deficiency | AR | 99.95 | 9 of 9 |
PYCR2 | Hypomyelinating Leukodystrophy, Autosomal Recessive Primary Microcephaly | AR | 98.29 | 14 of 14 |
RAB18 | Warburg Micro Syndrome | AR | 100 | 4 of 4 |
RAB3GAP1 | Warburg Micro Syndrome, Cataract-Intellectual Disability-Hypogonadism Syndrome | AR | 99.94 | 70 of 70 |
RAB3GAP2 | Martsolf Syndrome, Warburg Micro Syndrome, Autosomal Recessive Spastic Paraplegia Type 69, Cataract- Intellectual Disability- Hypogonadism Syndrome | AR | 100 | 17 of 17 |
RELN | Familial Temporal Lobe Epilepsy, Lissencephaly | AD,AR | 100 | 70 of 70 |
RMND1 | Combined Oxidative Phosphorylation Deficiency | AR | 99.67 | 15 of 16 |
RNU4ATAC | Lowry-Wood Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Type I, Roifman Syndrome | AR | na | na |
RTTN | Microcephaly, Short Stature, And Polymicrogyria With Seizures | AR | 99.94 | 28 of 29 |
RXYLT1 | Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Walker- Warburg Syndrome | AR | 99.46 | NA of NA |
SASS6 | Autosomal Recessive Primary Microcephaly | AR | 99.14 | 6 of 6 |
SCN1B | Early Infantile Epileptic Encephalopathy, Generalized Epilepsy With Febrile Seizures Plus Type 1, Dravet Syndrome | AD,AR | 99.67 | 46 of 48 |
SCN2A | Early Infantile Epileptic Encephalopathy, Episodic Ataxia Type 9, Benign Familial Neonatal- Infantile Seizures, Benign Familial Infantile Epilepsy, Dravet Syndrome, Generalized Epilepsy With Febrile Seizures- Plus, West Syndrome | AD | 100 | 351 of 351 |
SIK1 | Early Infantile Epileptic Encephalopathy, Early Myoclonic Encephalopathy, West Syndrome | AD | 99.67 | 9 of 9 |
SLC25A19 | Microcephaly, Thiamine Metabolism Dysfunction Syndrome (Bilateral Striatal Degenerationand Progressive Polyneuropathy Type), Amish Lethal Microcephaly | AR | 97.13 | 10 of 10 |
SLC25A22 | Early Infantile Epileptic Encephalopathy, Early Myoclonic Encephalopathy | AR | 100 | 16 of 16 |
SNAP29 | Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome, Cednik Syndrome | AR | 100 | 13 of 13 |
SRPX2 | Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-linked, Bilateral Perisylvian Polymicrogyria, Rolandic Epilepsy -Speech Dyspraxia Syndrome | AD | 100 | NA of NA |
STIL | Autosomal Recessive Primary Microcephaly | AR | 99.94 | 18 of 18 |
STS | Recessive X-linked Ichthyosis | X,XR,G | 100 | NA of NA |
STXBP1 | 9q33.3q34.11 Microdeletion Syndrome, Atypical Rett Syndrome, Dravet Syndrome, Early Infantile Epileptic Encephalopathy, West Syndrome | AD | 100 | 209 of 215 |
TAF13 | Autosomal Recessive Mental Retardation, Autosomal Recessive Primary Microcephaly | AR | 99.97 | 5 of 5 |
TBC1D20 | Warburg Micro Syndrome | AR | 99.94 | 6 of 6 |
TBR1 | Intellectual Developmental Disorder With Autism And Speech Delay, 2q24 Microdeletion Syndrome | AD | 99.04 | 13 of 13 |
TCTN1 | Joubert Syndrome | AR | 94.98 | 10 of 10 |
TCTN2 | Joubert Syndrome, Meckel Syndrome | AR | 100 | 14 of 14 |
TMTC3 | Lissencephaly , Periventricular Nodular Heterotopia | AR | 99.04 | 10 of 10 |
TMX2 | Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity | AR | 99.98 | 12 of 12 |
TP53RK | Galloway- Mowat Syndrome | AR | 97.68 | 5 of 5 |
TPRKB | Galloway- Mowat Syndrome | AR | 85.66 | 2 of 2 |
TRAPPC14 | Autosomal Recessive Primary Microcephaly | AR | na | na |
TRIM8 | Early Infantile Epileptic Encephalopathy | – | 99.5 | 7 of 7 |
TUBA1A | Lissencephaly | AD | 100 | 95 of 95 |
TUBB2B | Complex Cortical Dysplasia, With Other Brain Malformations, Dysequilibrium Syndrome, Polymicrogyria Due To TUBB2B Mutation | AD | 84.28 | 29 of 38 |
TUBB3 | Complex Cortical Dysplasia, With Other Brain Malformations, Congenial Fibrosis Of Extraocular Muscles, Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To TUBB3 Mutation | AD | 99.96 | 30 of 30 |
TUBG1 | Complex Cortical Dysplasia, With Other Brain Malformations | AD | 99.94 | 10 of 10 |
TUBGCP2 | Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures | AR | 96.78 | 4 of 4 |
TUBGCP6 | Microcephaly With Chorioretinopathy | AR | 99.49 | 12 of 13 |
VAC14 | Childhood-Onset Striatonigral Degeneration, Yunis-Varon Syndrome | AR | 100 | 11 of 11 |
VIPAS39 | Arthrogryposis, Renal Dysfunction, And Cholestasis | AR | 100 | 15 of 15 |
VLDLR | Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion, Dysequilibrium Syndrome | AR | 100 | 20 of 20 |
VPS33B | Arthrogryposis, Renal Dysfunction, And Cholestasis | AR | 100 | 62 of 62 |
WDR26 | Skraban– Deardorff Syndrome, Intellectual Disability- Seizures- Abnormal Gait-Facial Dysmorphism Syndrome | AD | 99.31 | 22 of 22 |
WDR4 | Galloway- Mowat Syndrome, Microcephaly, Growth Deficiency, Seizures, And Brain Malformations, Galloway- Mowat Syndrome | AR | 99.91 | 7 of 7 |
WDR62 | Autosomal Recessive Primary Microcephaly | AR | 100 | 60 of 61 |
WDR73 | Galloway-Mowat Syndrome, Camos Syndrome | AR | 95.71 | 14 of 14 |
YWHAE | 17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome | – | 98.99 | 0 of 1 |
ZNHIT3 | Peho Syndrome | AR | 73.96 | 1 of 1 |