Genomics Precision Diagnostic > Prenatal > Ventriculomegaly Precision Panel

Ventriculomegaly Precision Panel

Ventriculomegaly is the term used to describe ventricular dilation unrelated to increased cerebrospinal fluid pressure, such as dilation due to brain dysgenesis or atrophy.

Overview

Ventriculomegaly is the term used to describe ventricular dilation unrelated to increased cerebrospinal fluid pressure, such as dilation due to brain dysgenesis or atrophy. Also known as hydrocephalus, which is described as the pathological dilation of the brain’s ventricular system, these terms are used interchangeably. Fetal cerebral ventriculomegaly is a relatively common finding on the second trimester obstetric ultrasound examination, even isolated ventriculomegaly can be a normal variant associated with normal offspring outcome. Ventriculomegaly can be caused by a variety of disorders that result in neurologic, motor and/or cognitive impairment. It is one of the most common abnormal sonographic findings associated with congenital infection, chromosomal and additional structural abnormalities.
The Igenomix Ventriculomegaly Precision Panel can be used to make a directed and accurate diagnosis and correlate an ultrasound finding with potential syndromic associations ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Ventriculomegaly Precision Panel is indicated for those patients with ultrasound findings suggestive of ventriculomegaly which include:
- Atrial diameter > or equal to 10mm
- Cerebrospinal fluid obstruction

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of ultrasound surveillance as well as perinatal and postnatal follow-up for potential worsening of ventriculomegaly.
Risk assessment of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.
Identification of the genetic basis of these associated disorders for a better insight into the mechanisms of brain development.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ACD*	Dyskeratosis Congenita, Melanoma, Hoyeraal- Hreidarsson Syndrome	AD,AR	99.89	14 of 14
*ACP5*	Immunodeficiency, Autoimmunity, Spondyloenchondrodysplasia	AR	100	27 of 28
*ACTA2*	Aortic Aneurysm, Moyamoya Disease, Multisystemic Smooth Muscle Dysfunction Syndrome, Thoracic Aortic Aneurysm, Aortic Dissection	AD	100	88 of 88
*ACTB*	Baraitser– Winter Syndrome, Dystonia, Becker Nevus Syndrome, Developmental Malformations, Deafness	AD	100	40 of 40
*ACTG1*	Baraitser– Winter Syndrome, Deafness	AD	98.59	55 of 55
*ADAR*	Aicardi- Goutieres Syndrome, Dyschromatosis Symmetrica, Bilateral Striatal Necrosis	AD,AR	99.93	252 of 252
*ADGRG1*	Polymicrogyria	AR	100	–
*ADNP*	Helsmoortel– Van Der- Aa Syndrome, Adnp Syndrome	AD	99.91	90 of 90
*AHCY*	Hypermethioninemia, Psychomotor Delay, S-Adenosylhomocysteine Hydrolase Deficiency	AR	100	11 of 11
*AHI1*	Joubert Syndrome, Joubert Syndrome, Retinitis Pigmentosa	AR	96.79	85 of 97
*AKT3*	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus	AD	99.9	9 of 11
*ALDH7A1*	Epilepsy	AR	99.98	131 of 134
*AMPD2*	Pontocerebellar Hypoplasia, Spastic Paraplegia	AR	99.99	24 of 24
*ANKLE2*	Microcephaly	AR	96.08	4 of 4
*ANKRD11*	Kbg Syndrome, 16q24.3 Microdeletion Syndrome	AD	99.6	119 of 124
*ANTXR1*	Gapo Syndrome, Hemangioma	AD,AR	100	19 of 19
*AP1S2*	Mental Retardation, Fried Syndrome, Dandy- Walker Malformation, Basal Ganglia Disease, Seizures, Hypotonia, Facial Dysmorphism	X,XR,G	84.15	–
*AP4B1*	Spastic Paraplegia, Intellectual Disability	AR	99.64	22 of 22
*AP4E1*	Spastic Paraplegia, Stuttering, Intellectual Disability	AD,AR	99.94	17 of 17
*AP4M1*	Spastic Paraplegia, Intellectual Disability	AR	100	18 of 18
*APC2*	Cortical Dysplasia, Sotos Syndrome	AR	94.97	11 of 11
*ARHGAP31*	Adams- Oliver Syndrome	AD	100	6 of 6
*ARID1A*	Coffin- Siris Syndrome	AD	95.32	40 of 42
*ARID1B*	Coffin- Siris Syndrome, 6q25 Microdeletion Syndrome	AD	93.87	226 of 238
*ARID2*	Coffin-Siris Syndrome	AD	99.97	17 of 17
*ARMC9*	Joubert Syndrome	AR	99.95	10 of 10
*ARX*	Corpus Callosum Agenesis, Epileptic Encephalopathy, Mental Retardation, Partington Syndrome, West Syndrome, Lissencephaly, Abnormal Genitalia, Spasticity	X,XR,G	81.92	–
*ASNS*	Asparagine Synthetase Deficiency	AR	99.98	37 of 37
*ASPM*	Microcephaly	AR	99.74	221 of 222
*ASXL1*	Bohring– Opitz Syndrome, Myelodysplastic Syndrome, Systemic Mastocytosis, Hematologic Neoplasm	AD	99.96	41 of 41
*ASXL2*	Shashi– Pena Syndrome	AD	99.75	6 of 6
*ATP1A1*	Charcot-Marie- Tooth Disease, Hypomagnesemia, Seizures, Mental Retardation	AD	100	16 of 16
*ATP6*	Leber Optic Atrophy, Neuropathy, Ataxia, Retinitis Pigmentosa, Bilateral Striatal Necrosis, Leigh Syndrome, Spastic Paraplegia, Narp Syndrome	MI	–	–
*ATP6AP2*	Congenital Disorder Of Glycosylation, Mental Retardation, Epilepsy, Parkinson Disease, Spasticity	X,XR,G	100	–
*ATP6V0A2*	Cutis Laxa, Wrinkly Skin Syndrome	AR	99.99	55 of 55
*ATP6V1A*	Cutis Laxa, Epileptic Encephalopathy	AD,AR	99.98	9 of 9
*ATP6V1E1*	Cutis Laxa	AR	100	2 of 2
*ATXN1*	Spinocerebellar Ataxia	AD	99.93	2 of 2
*ATXN2*	Parkinson Disease, Spinocerebellar Ataxia, Amyotrophic Lateral Sclerosis	AD	91.78	9 of 10
*ATXN3*	Machado- Joseph Disease	AD	99.94	–
*B3GALNT2*	Muscular Dystrophy- Dystroglycanopathy, Intellectual Disability, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome	AR	97.14	17 of 17
*B3GLCT*	Peters-Plus Syndrome	AR	99.96	–
*B4GALT1*	Congenital Disorder Of Glycosylation	AR	99.97	3 of 3
*B4GAT1*	Muscular Dystrophy- Dystroglycanopathy, Walker-Warburg Syndrome	AR	–	–
*B9D1*	Joubert Syndrome, Meckel Syndrome	AR	90.23	11 of 11
*B9D2*	Meckel Syndrome	AR	84.81	4 of 5
*BGN*	Meester- Loeys Syndrome, Spondyloepimetaphyseal Dysplasia	X,XR,G	99.87	–
*BICD2*	Spinal Muscular Atrophy	AD	99.94	39 of 39
*BMP2*	Brachydactyly, Hemochromatosis, Short Stature, Facial Dysmorphism, Skeletal And Cardiac Anomalies, 20p12.3 Microdeletion Syndrome	AD,AR	99.48	12 of 12
*BMP4*	Microphthalmia, Cleft Lip/Palate, Brain And Digit Anomalies	AD,MU,P	100	38 of 42
*BRCA1*	Breast And Ovarian Cancer, Fanconi Anemia, Pancreatic Carcinoma, Peritoneal Carcinoma	AD,AR,MU	98.97	2783 of 2894
*BRCA2*	Fanconi Anemia, Wilms Tumor, Multiple Types	AD,AR,MU	98.51	3343 of 3451
*BRF1*	Cerebellofaciodental Syndrome	AR	99.9	17 of 17
*BRIP1*	Fanconi Anemia, Breast And Ovarian Cancer	AD,AR	94.97	235 of 237
*BUB1*	Colorectal Cancer, Mosaic Variegated Aneuploidy Syndrome	AD	99.76	18 of 19
*BUB1B*	Colorectal Cancer, Mosaic Variegated Aneuploidy Syndrome	AD,AR	99.84	30 of 31
*BUB3*	Mosaic Variegated Aneuploidy Syndrome	–	99.98	6 of 6
*C12ORF57*	Craniofacial Dysmorphism, Ocular Coloboma, Absent Corpus Callosum, Aortic Dilatation, Temtamy Syndrome	AR	–	–
*C2CD3*	Orofaciodigital Syndrome	AR	97.25	18 of 18
*CASK*	Anemia, Fg Syndrome, Mental Retardation, Microcephaly, Pontine And Cerebellar Hypoplasia, Epileptic Encephalopathy	X,XR,XD,G	99.98	–
*CC2D2A*	Coach Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.43	98 of 100
*CCDC103*	Ciliary Dyskinesia	AR	99.92	6 of 6
*CCDC174*	Hypotonia, Psychomotor Retardation	AR	99.89	1 of 1
*CCDC22*	Ritscher- Schinzel Syndrome, 3c Syndrome	X,XR,G	99.94	–
*CCDC39*	Ciliary Dyskinesia	AR	99.56	48 of 52
*CCDC40*	Ciliary Dyskinesia	AR	98	50 of 50
*CCDC65*	Ciliary Dyskinesia	AR	99.98	3 of 3
*CCDC88A*	Peho- Like Syndrome	AR	91.9	3 of 4
*CCDC88C*	Hydrocephalus, Spinocerebellar Ataxia	AD,AR	99.44	13 of 14
*CCND2*	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus	AD	99.97	9 of 9
*CCNO*	Ciliary Dyskinesia	AR	99.94	12 of 12
*CDC42*	Takenouchi- Kosaki Syndrome, Macrothrombocytopenia, Lymphedema, Developmental Delay, Facial Dysmorphism, Camptodactyly	AD	99.97	10 of 10
*CDK5RAP2*	Microcephaly	AR	100	32 of 32
*CDK6*	Microcephaly	AR	100	1 of 1
*CDKN1C*	Beckwith- Wiedemann Syndrome, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasiacongenita, Genital Anomalies, Image Syndrome, Diabetes	AD	73.58	55 of 76
*CENPJ*	Microcephaly, Seckel Syndrome	AR	99.97	13 of 13
*CEP120*	Joubert Syndrome, Short-Rib Thoracic Dysplasia, Polydactyly, Jeune Syndrome	AR	99.8	9 of 9
*CEP135*	Microcephaly	AR	99.48	7 of 8
*CEP152*	Microcephaly, Seckel Syndrome	AR	97.73	21 of 24
*CEP290*	Bardet-Biedl Syndrome, Joubert Syndrome, Leber Congenital Amaurosis, Meckel Syndrome, Senior- Loken Syndrome	AR	96.47	293 of 327
*CEP55*	Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, Hydranencephaly, Meckel Syndrome	AR	99.22	3 of 3
*CEP57*	Mosaic Variegated Aneuploidy Syndrome	AR	99.64	6 of 6
*CEP63*	Seckel Syndrome, Microcephaly	AR	100	3 of 3
*CFAP221*	Primary Ciliary Dyskinesia	–	89.78	–
*CFAP298*	Ciliary Dyskinesia	AR	–	–
*CFAP300*	Ciliary Dyskinesia	AR	–	–
*CHD3*	Snijders Blok-Campeau Syndrome	AD	97.93	30 of 30
*CHD4*	Sifrim– Hitz-Weiss Syndrome	AD	99.65	34 of 34
*CHD7*	Charge Syndrome, Hypogonadotropic Hypogonadism, Kallmann Syndrome, Omenn Syndrome	AD	96.25	823 of 896
*CHST14*	Ehlers-Danlos Syndrome	AR	97.7	21 of 22
*CILK1*	Endocrine- Cerebroosteodysplasia, Epilepsy	AD,AR	100	–
*CIT*	Microcephaly	AR	99.98	17 of 17
*CLCN4*	Mental Retardation	X,XR,XD,G	99.69	–
*CLP1*	Pontocerebellar Hypoplasia	AR	99.89	2 of 2
*CNNM2*	Hypomagnesemia, Mental Retardation, Seizures, Normocalciuria, Normocalcemia	AD,AR	99.98	9 of 9
*COG5*	Congenital Disorder Of Glycosylation	AR	100	19 of 19
*COG6*	Congenital Disorder Of Glycosylation, Shaheen Syndrome, Hypohidrosis, Enamel Hypoplasia, Palmoplantar Keratoderma, Intellectual Disability	AR	100	13 of 13
*COG8*	Congenital Disorder Of Glycosylation	AR	100	8 of 8
*COL18A1*	Glaucoma, Knobloch Syndrome	AD,AR	99.76	–
*COL3A1*	Ehlers-Danlos Syndrome, Polymicrogyria, Acrogeria, Aneurysm	AD,AR	100	676 of 676
*COL4A1*	Angiopathy, Nephropathy, Aneurysms, Muscle Cramps, Microangiopathy, Leukoencephalopathy, Porencephaly, Hanac Syndrome, Walker-Warburg Syndrome	AD	99.99	173 of 173
*COL4A2*	Porencephaly	AD	99.93	28 of 28
*COPB2*	Microcephaly	AR	99.64	4 of 4
*CPLX1*	Epileptic Encephalopathy, Wolf-Hirschhorn Syndrome	AD,AR	99.81	3 of 3
*CPT2*	Carnitine Palmitoyltransferase Ii Deficiency, Encephalopathy	AD,AR	99.99	116 of 116
*CRB2*	Ventriculomegaly, Cystic Kidney Disease, Focal Segmental Glomerulosclerosis	AR	99.5	26 of 29
*CRPPA*	Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Intellectual Disability, Walker- Warburg Syndrome	AR	97.69	–
*CSF1R*	Brain Abnormalities, Neurodegeneration, Dysosteosclerosis, Gliosis	AD,AR	100	122 of 124
*CSGALNACT1*	Skeletal Dysplasia	AR	100	4 of 5
*CSPP1*	Joubert Syndrome, Jeune Asphyxiating Thoracic Dystrophy, Meckel Syndrome	AR	98.32	29 of 30
*CTBP1*	Hypotonia, Ataxia, Developmental Delay, Tooth Enamel Defect, Wolf-Hirschhorn Syndrome	AD	98.45	1 of 1
*CTCF*	Mental Retardation, Feeding Difficulties, Developmental Delay, Microcephaly	AD	96.6	39 of 41
*CTDP1*	Congenital Cataracts, Facial Dysmorphism, Neuropathy	AR	97.52	0 of 1
*CTNNB1*	Colorectal Cancer, Exudative Vitreoretinopathy, Hepatocellular Carcinoma, Medulloblastoma, Mental Retardation, Pilomatrixoma, Craniopharyngioma, Desmoid Tumor, Spastic Diplegia	AD,AR	100	63 of 63
*CUL4B*	Mental Retardation, Short Stature, Small Testes, Musclewasting, Tremor	X,XR,G	99.77	–
*CYFIP2*	Epileptic Encephalopathy	AD	100	8 of 8
*D2HGDH*	D-2- Hydroxyglutaric Aciduria	AR	100	42 of 42
*DAG1*	Muscular Dystrophy- Dystroglycanopathy, Limb-Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease, Bilateral Multicystic Leucodystrophy, Walker-Warburg Syndrome	AR	99.98	9 of 9
*DCHS1*	Mitral Valve Prolapse, Van Maldergem Syndrome, Cerebrofacioarticular Syndrome	AD,AR	99.69	30 of 30
*DCX*	Lissencephaly	X,G	100	–
*DDX3X*	Intellectual Developmental Disorder, Hypotonia	X,XR,XD,G	99.03	–
*DEAF1*	Dyskinesia, Seizures, Intellectual Developmental Disorder, Mental Retardation, Epilepsy, Extrapyramidal Syndrome, Smith-Magenis Syndrome	AD,AR	93.55	42 of 42
*DENND5A*	Epileptic Encephalopathy	AR	100	9 of 9
*DHCR24*	Desmosterolosis	AR	100	10 of 10
*DHCR7*	Smith- Lemli–Opitz Syndrome	AR	100	217 of 217
*DHX30*	Neurodevelopmental Disorder, Absent Language	AD	99.98	6 of 6
*DISC1*	Microcephaly, Polymicrogyria, Corpus Callosum Agenesis	–	97.88	16 of 17
*DKC1*	Dyskeratosis Congenita, Hoyeraal- Hreidarsson Syndrome	X,XR,G	100	–
*DLL1*	Neurodevelopmental Disorder, Seizures, Holoprosencephaly	AD	99.83	15 of 15
*DMPK*	Dystrophia Myotonica, Steinert Myotonic Dystrophy	AD	99.83	3 of 3
*DNAAF1*	Ciliary Dyskinesia	AR	99.55	36 of 37
*DNAAF2*	Ciliary Dyskinesia	AR	97.45	7 of 8
*DNAAF3*	Ciliary Dyskinesia	AR	98.95	13 of 14
*DNAAF4*	Ciliary Dyskinesia	AD,AR	99.27	–
*DNAAF5*	Ciliary Dyskinesia	AR	89.27	–
*DNAAF6*	Ciliary Dyskinesia	X,XR,G	99.63	–
*DNAH1*	Ciliary Dyskinesia, Spermatogenic Failure	AR	100	58 of 58
*DNAH11*	Ciliary Dyskinesia	AR	99.27	159 of 169
*DNAH5*	Ciliary Dyskinesia	AR	100	277 of 278
*DNAH9*	Ciliary Dyskinesia	AR	98.86	19 of 19
*DNAI1*	Kartagener Syndrome, Ciliary Dyskinesia	AR	96.91	43 of 43
*DNAI2*	Ciliary Dyskinesia	AR	98.89	8 of 8
*DNAJB13*	Ciliary Dyskinesia	AR	99.94	3 of 3
*DNAL1*	Ciliary Dyskinesia	AR	99.43	5 of 5
*DNMT1*	Cerebellar Ataxia, Deafness, Narcolepsy, Neuropathy	AD	97.87	30 of 30
*DNMT3A*	Heyn-Sproul- Jackson Syndrome, Leukemia, Tatton- Brown- Rahman Syndrome, Sporadic Pheochromocytoma, Secreting Paraganglioma, Tall Stature, Intellectual Disability, Facial Dysmorphism	AD	99.95	67 of 68
*DOK7*	Fetal Akinesia Deformation Sequence, Myasthenia, Limb-Girdle Muscular Dystrophy	AR	99.88	72 of 72
*DPF2*	Coffin-Siris Syndrome	AD	99.99	10 of 10
*DPH1*	Developmental Delay, Short Stature, Craniofacial Dysplasia, Intellectual Disability	AR	100	8 of 8
*DRC1*	Ciliary Dyskinesia	AR	100	9 of 9
*DSE*	Ehlers- Danlos Syndrome	AR	99.94	3 of 3
*DYNC2H1*	Short-Rib Thoracic Dysplasia, Polydactyly, Jeune Syndrome	AR,MU,D	99.78	214 of 221
*DYNC2I1*	Short-Rib Thoracic Dysplasia, Polydactyly, Jeune Syndrome	AR	97.76	14 of 14
*DYNC2I2*	Short-Rib Thoracic Dysplasia, Polydactyly, Jeune Syndrome,	AR	99.54	23 of 23
*DYRK1A*	Mental Retardation, Intellectual Disability	AD	99.85	78 of 81
*EBP*	Chondrodysplasia Punctata, Mend Syndrome	X,XR,XD,G	100	–
*EGF*	Hypomagnesemia, Normocalciuria, Normocalcemia	AR	99.98	9 of 9
*EHMT1*	Kleefstra Syndrome	AD	98.58	58 of 75
*EIF2S3*	Mehmo Syndrome	X,XR,G	98.64	–
*EMG1*	Bowen- Conradi Syndrome	AR	99.91	1 of 1
*EML1*	Band Heterotopia	AR	98.88	7 of 7
*EOMES*	Microcephaly, Polymicrogyria, Corpus Callosum Agenesis	–	98.82	–
*ERCC2*	Cerebrooculofacioskeletal Syndrome, Trichothiodystrophy, Xeroderma Pigmentosum	AR	100	102 of 102
*ERCC3*	Trichothiodystrophy, Xeroderma Pigmentosum	AR	99.98	24 of 24
*ERCC4*	Fanconi Anemia, Xeroderma Pigmentosum, Xfe Progeroid Syndrome, Cockayne Syndrome	AR	99.68	69 of 72
*EVC*	Ellis-Van Creveld Syndrome, Weyers Acrofacial Dysostosis, Acrofacial Dysostosis	AD,AR	94.04	68 of 73
*EVC2*	Ellis-Van Creveld Syndrome, Weyers Acrofacial Dysostosis	AD,AR	99.98	75 of 75
*EXT1*	Chondrosarcoma, Exostoses, Multiple Osteochondromas, Trichorhinophalangeal Syndrome	AD,AR	99.97	518 of 525
*EXTL3*	Immunoskeletal Dysplasia, Neurodevelopmental Abnormalities, Immunodeficiency	AR	99.99	10 of 10
*EZH2*	Weaver Syndrome	AD	99.82	40 of 41
*FANCA*	Fanconi Anemia	AR	95.17	497 of 502
*FANCB*	Fanconi Anemia, VACTERL, Hydrocephalus	X,XR,G	95.53	–
*FANCC*	Fanconi Anemia	AR	100	75 of 75
*FANCD2*	Fanconi Anemia	AR	100	62 of 63
*FANCE*	Fanconi Anemia	AR	97	17 of 18
*FANCF*	Fanconi Anemia	AR	99.31	17 of 18
*FANCG*	Fanconi Anemia	–	100	94 of 94
*FANCI*	Fanconi Anemia	AR	100	53 of 54
*FANCL*	Fanconi Anemia	AR	100	25 of 26
*FANCM*	Ovarian Failure, Spermatogenic Failure, Fanconi Anemia, Male Infertility	AR	99.73	59 of 61
*FAR1*	Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	AR	98.77	4 of 4
*FARS2*	Combined Oxidative Phosphorylation Deficiency, Spastic Paraplegia	AR	99.98	23 of 23
*FAT4*	Hennekam Lymphangiectasia- Lymphedema Syndrome, Van Maldergem Syndrome, Cerebrofacioarticular Syndrome	AR	99.8	41 of 41
*FBN1*	Acromicric Dysplasia, Ectopia Lentis, Geleophysic Dysplasia, Marfan Syndrome, Mass Syndrome, Stiff Skin Syndrome, Weill-Marchesani Syndrome, Familial Thoracic Aortic Aneurysm, Aortic Dissection, Glaucoma, Microspherophakia, Shprintzen– Goldberg Syndrome	AD	100	2836 of 2845
*FBP1*	Fructose-1,6- Bisphosphatase Deficiency	AR	100	47 of 49
*FBXW11*	Neurodevelopmental, Jaw, Eye, And Digital Syndrome, Intellectual Disability	AD	99.89	10 of 10
*FGFR1*	Encephalocraniocutaneous Lipomatosis, Hartsfield Syndrome, Jackson-Weiss Syndrome, Kallmann Syndrome, Osteoglophonic Dysplasia, Pfeiffer Syndrome, Trigonocephaly, Holoprosencephaly, Hypogonadotropic Hypogonadism, Oligodontia	AD	100	279 of 280
*FGFR2*	Antley-Bixler Syndrome, Apert Syndrome, Bent Bone Dysplasia Syndrome, Crouzon Syndrome, Scaphocephaly Syndrome, Gastric Cancer, Jackson-Weiss Syndrome, Lacrimoauri- culodentodigital Syndrome, Saethre-Chotzen Syndrome, Cutis Gyrate, Acanthosis Nigricans, Craniosynostosis, Pfeiffer Syndrome	AD	98	140 of 143
*FGFR3*	Achondroplasia, Bladder Cancer, Camptodactyly, Cervical Cancer, Colorectal Cancer, Crouzon Syndrome, Acanthosis Nigricans, Epidermal Nevus, Hypochondroplasia, Lacrimoauri- culodentodigital Syndrome, Muenke Syndrome, Testicular Tumor, Thanatophoric Dysplasia, Tall Stature, Scoliosis , Hearing Loss, Brachycephaly, Plagiocephaly, Saethre-Chotzen Syndrome	AD,AR	99.89	77 of 78
*FGFRL1*	Wolf-Hirschhorn Syndrome	AD	99.94	1 of 1
*FIG4*	Amyotrophic Lateral Sclerosis, Charcot- Marie-Tooth Disease, Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, Polymicrogyria, Yunis-Varon Syndrome	AD,AR	99.92	72 of 72
*FKRP*	Limb Girdle Muscular Dystrophy, Muscular Dystrophy- Dystroglycanopathy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	99.9	157 of 157
*FKTN*	Cardiomyopathy, Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	98	54 of 56
*FLI1*	Bleeding Disorder, Jacobsen Syndrome, Paris-Trousseau Thrombocytopenia, Neuroectodermal Tumor	AD,AR	100	7 of 7
*FLII*	Smith- Magenis Syndrome	–	99.98	3 of 3
*FLVCR2*	Proliferative Vasculopathy, Hydranencephaly- Hydrocephaly Syndrome	AR	99.97	16 of 16
*FOXF1*	Alveolar Capillary Dysplasia, Misalignment Of Pulmonary Veins	AD	95.93	74 of 96
*FOXJ1*	Ciliary Dyskinesia	AD	99.69	5 of 5
*FOXP3*	Immunodysregulation, Polyendocrinopathy, Enteropathy	X,XR,G	99.86	–
*FOXRED1*	Mitochondrial Complex I Deficiency, Leigh Syndrome, Leukodystrophy	AR	100	13 of 13
*FTO*	Body Mass Index Quantitative Trait Locus, Developmental Delay	AR	99.91	8 of 8
*GABBR2*	Epileptic Encephalopathy, Neurodevelopmental Disorder, Rett Syndrome	AD	95.98	7 of 7
*GABRD*	1p36 Deletion Syndrome, Febrile Seizures, Myoclonic Epilepsy	AD	95.23	3 of 3
*GAS2L2*	Ciliary Dyskinesia	AR	89	4 of 5
*GAS8*	Ciliary Dyskinesia	AR	99.98	6 of 6
*GBA*	Dementia, Gaucher Disease, Parkinson Disease, Ophthalmoplegia, Cardiovascular Calcification	AD,AR	100	469 of 471
*GCDH*	Glutaric Acidemia, Glutaryl-Coa Dehydrogenase Deficiency	AR	88.74	254 of 254
*GFM2*	Combined Oxidative Phosphorylation Deficiency	AR	99.35	5 of 7
*GLB1*	Gangliosidosis, Morquio Syndrome	AR	100	242 of 243
*GLI3*	Greig Cephalopolysyndactyly Syndrome, Hypothalamic Hamartomascongenital Hypothalamic Hamartoma Syndrome, Polydactyly, Acrocallosal Syndrome, Pallister-Hall Syndrome, Tibial Hemimelia	AD,AR	100	231 of 231
*GLUL*	Glutamine Deficiency	AR	100	4 of 4
*GMPPB*	Muscular Dystrophy- Dystroglycanopathy, Myasthenic Syndromes, Glycosylation Defect, Limb- Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease	AR	99.95	53 of 53
*GNAO1*	Epileptic Encephalopathy, Neurodevelopmental Disorder	AD	100	47 of 47
*GPC3*	Simpson-Golabi– Behmel Syndrome, Wilms Tumor, Nephroblastoma	AD,X,XR,G	99.84	–
*GPC4*	Keipert Syndrome, Simpson-Golabi– Behmel Syndrome, Wilms Tumor	AD,X,XR,G	98.43	–
*GPSM2*	Chudley- Mccullough Syndrome	AR	100	13 of 13
*GRM1*	Spinocerebellar Ataxia	AD,AR	99.88	20 of 21
*GRN*	Ceroid Lipofuscinosis, Frontotemporal Lobar Degeneration, Frontotemporal Dementia, Semantic Dementia	AD,AR	100	220 of 229
*GTF2E2*	Trichothiodystrophy	AR	99.98	2 of 2
*GTF2H5*	Trichothiodystrophy	AR	100	8 of 8
*H19-ICR*	Beckwith- Wiedemann Syndrome, Multiple Cancer Types, Silver- Russell Syndrome	AD	–	–
*HDAC8*	Cornelia De Lange Syndrome, Wilson- Turner Syndrome	X,XD,G	99.78	–
*HECW2*	Neurodevelopmental Disorder, Hypotonia, Seizures	AD	99.85	13 of 13
*HEPACAM*	Megalencephalic Leukoencephalopathy, Subcortical Cysts, Mental Retardation	AD,AR	97.87	30 of 30
*HERC1*	Macrocephaly, Dysmorphic Facies, Psychomotor Retardation, Megalencephaly, Kyphoscoliosis	AR	99.96	11 of 11
*HERC2*	Mental Retardation, Prader-Willi Syndrome	AD,AR	98.91	9 of 9
*HIBCH*	3-Hydroxyisobutyryl- Coa Hydrolase Deficiency, Neurodegeneration	AR	96.47	27 of 27
*HK1*	Hemolytic Anemia, Neurodevelopmental Disorder, Visual Defects, Neuropathy, Retinitis Pigmentosa, Charcot-Marie- Tooth Disease	AD,AR	100	14 of 17
*HNRNPU*	Epileptic Encephalopathy, 1q44 Microdeletion Syndrome	AD	99.8	36 of 36
*HRAS*	Bladder Cancer, Costello Syndrome, Epidermal Nevus, Schimmelpenning– Feuerstein- Mims Syndrome, Thyroid Cancer	AD	100	34 of 34
*HS6ST2*	Paganini- Miozzo Syndrome	X,XR,G	98.39	–
*HSD17B4*	D-Bifunctional Protein Deficiency, Perrault Syndrome	AR	99.52	85 of 85
*HTRA2*	3-Methylglutaconic Aciduria, Parkinson Disease	AD,AR	99.81	18 of 18
*HTT*	Huntington Disease, Lopes-Maciel– Rodan Syndrome	AD,AR	99	–
*HYDIN*	Ciliary Dyskinesia	AR	81.7	45 of 63
*HYLS1*	Hydrolethalus Syndrome, Joubert Syndrome	AR	100	2 of 2
*IFIH1*	Aicardi- Goutieres Syndrome, Singleton– Merten Syndrome	AD	99.62	26 of 27
*IFT172*	Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia, Polydactyly, Bardet-Biedl Syndrome, Jeune Syndrome	AR	100	37 of 37
*IFT43*	Cranioectodermal Dysplasia, Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia, Polydactyly	AR	100	6 of 6
*IFT80*	Asphyxiating Thoracic Dystrophy, Jeune Syndrome, Short Rib- Polydactyly Syndrome	AR	99.96	16 of 16
*IGF2*	Beckwith- Wiedemann Syndrome, Growth Restriction, Silver-Russell Syndrome, Wilms Tumor, Hemihyperplasia	AD,X,XR,G	100	9 of 9
*INPP5E*	Joubert Syndrome, Mental Retardation, Obesity, Retinal Dystrophy, Hepatic Defect	AR	99.89	56 of 56
*INTU*	Orofaciodigital Syndrome, Short-Rib Throacic Dysplasia, Polydactyly	AR	99.7	9 of 9
*IPW*	Prader-Willi Syndrome	AD	–	–
*IQSEC2*	Mental Retardation, Microduplication Xp11.22p11.23 Syndrome, Microcephaly, Smith-Magenis Syndrome	X,XR,XD,G	99.73	–
*ISCA1*	Multiple Mitochondrial Dysfunctions Syndrome	AR	99.86	2 of 2
*JAM2*	Basal Ganglia Calcification	AR	99.98	–
*JAM3*	Hemorrhagic Destruction Of The Brain, Subependymal Calcification, Cataracts	AR	100	4 of 4
*KANK1*	Cerebral Palsy	AD,ADWMI	99.91	6 of 6
*KANSL1*	Koolen-De Vries Syndrome	AD	96.03	22 of 27
*KAT8*	Li-Ghorgani– Weisz-Hubshman Syndrome	AD	99.97	1 of 1
*KATNB1*	Lissencephaly, Microcephaly	AR	100	10 of 10
*KCNAB2*	1p36 Deletion Syndrome	–	79	3 of 3
*KCNK4*	Facial Dysmorphism, Hypertrichosis, Epilepsy, Developmental Delay, Gingival Overgrowth Syndrome	AD	94.93	2 of 2
*KCNQ1*	Atrial Fibrillation, Beckwith- Wiedemann Syndrome, Jervell And Lange-Nielsen Syndrome, Long Qt Syndrome, Short Qt Syndrome, Romano-Ward Syndrome	AD,AR	93.23	600 of 624
*KCNQ1OT1*	Beckwith- Wiedemann Syndrome, Hemihyperplasia	AD	–	–
*KDM6A*	Kabuki Syndrome	AD,X,XD,G	99.98	–
*KIAA0586*	Joubert Syndrome, Short-Rib Thoracic Dysplasia, Polydactyly, Joubert Syndrome	AR	99.84	31 of 32
*KIAA0753*	Orofaciodigital Syndrome	AR	97.73	7 of 7
*KIAA1109*	Alkuraya- Kucinskas Syndrome	AR	99.95	21 of 21
*KIDINS220*	Spastic Paraplegia Intellectual Disability, Nystagmus, Obesity	AD	99.83	17 of 17
*KIF14*	Meckel Syndrome, Microcephaly	AR	99.84	18 of 18
*KIF1A*	Mental Retardation, Neuropathy, Spastic Paraplegia, Peho Syndrome	AD,AR	100	76 of 76
*KIF7*	Acrocallosal Syndrome, Hydrolethalus Syndrome, Macrocephaly, Multiple Epiphyseal Dysplasia, Distinctive Facies, Orofaciodigital Syndrome	AR	94.91	47 of 50
*KIFBP*	Goldberg- Shprintzen Syndrome	AR	99.27	–
*KLHL15*	Mental Retardation	X,XR,G	99.61	–
*KLHL7*	Crisponi Sweating Syndrome, Retinitis Pigmentosa, Bohring-Opitz Syndrome	AD,AR	98.69	19 of 19
*KMT2A*	Hairy Elbows, Short Stature, Facial Dysmorphism, Developmental Delay, Cornelia De Lange Syndrome, Wiedemann- Steiner Syndrome	AD	98.14	144 of 149
*KMT2D*	Kabuki Syndrome	AD	99.71	839 of 847
*KNL1*	Microcephaly	AR	98.91	–
*KNSTRN*	Immunodeficiency, Faciooculoskeletal Anomalies	–	99.98	–
*KRAS*	Aplasia Cutis Congenita, Arteriovenous Malformation Of The Brain, Cardiofaciocutaneous Syndrome, Noonan Syndrome, Autoimmune Lymphoproliferative Syndrome, Schimmelpenning -Feuerstein- Mims Syndrome, Encephalo- craniocutaneous Lipomatosis, Linear Nevus Sebaceus Syndrome, Lynch Syndrome, Toriello-Lacassie– Droste Syndrome	AD	100	38 of 38
*L1CAM*	Corpus Callosum Agenesis, Hydrocephalus, Stenosis Of Aqueduct Of Sylvius, Masa Syndrome	X,XR,G	100	–
*LAMA1*	Poretti- Boltshauser Syndrome, Ataxia, Intellectual Disability	AR	100	43 of 43
*LARGE1*	Muscular Dystrophy- Dystroglycanopathy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	100	–
*LETM1*	Wolf-Hirschhorn Syndrome	AD	98.2	2 of 2
*LMNB2*	Barraquer– Simons Syndrome, Epilepsy, Lipodystrophy	AD,AR	95.03	5 of 5
*LONP1*	Codas Syndrome	AR	99.84	21 of 21
*LRRC56*	Ciliary Dyskinesia	AR	99.77	5 of 5
*LRRC6*	Ciliary Dyskinesia	AR	99.88	21 of 21
*MAB21L1*	Cerebellar, Ocular, Craniofacial, And Genital Syndrome	AR	99.97	6 of 6
*MAD2L2*	Fanconi Anemia	AR	99.91	1 of 1
*MAF*	Ayme-Gripp Syndrome, Cataract	AD	75.14	23 of 23
*MAG*	Spastic Paraplegia	AR	99.97	7 of 7
*MAGEL2*	Prader-Willi Syndrome	AD	99.99	43 of 48
*MAST1*	Mega-Corpus- Callosum Syndrome, Cerebellar Hypoplasia, Cortical Malformations	AD	98.92	26 of 26
*MBTPS2*	Ichthyosis Follicularis, Atrichia, Photophobia Syndrome, Keratosis Follicularis Spinulosa Decalvans, Osteogenesis Imperfecta, Palmoplantar Keratoderma, Bresek Syndrome, Alopecia, Periorificial Keratotic Plaques	X,XR,G	100	–
*MCIDAS*	Ciliary Dyskinesia	AR	99.92	4 of 4
*MCPH1*	Microcephaly	AR	99.51	18 of 19
*MED12*	Lujan-Fryns Syndrome, Ohdo Syndrome, Opitz-Kaveggia Syndrome, Blepharophimosis, Intellectual Disability, Fg Syndrome	X,XR,G	100	–
*MED25*	Basel- Vanagaite– Smirin-Yosef Syndrome, Charcot-Marie- Tooth Disease, Congenital Cataract, Microcephaly, Nevus Flammeus Simplex, Intellectual Disability	AR	100	5 of 5
*MEF2C*	Mental Retardation, Stereotypic Movements, Epilepsy, Cerebral Malformations, 5q14.3 Microdeletion Syndrome	AD	99.91	43 of 46
*METTL5*	Intellectual Developmental Disorder, Microcephaly	AR	99.9	4 of 4
*MFSD2A*	Microcephaly	AR	97.58	6 of 6
*MKRN3*	Prader-Willi Syndrome, Precocious Puberty	AD,ADWMI	99.98	39 of 41
*MKRN3-AS1*	Prader-Willi Syndrome	AD	–	–
*MKS1*	Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.98	49 of 49
*MOCS1*	Molybdenum Cofactor Deficiency	AR	100	36 of 37
*MOCS2*	Molybdenum Cofactor Deficiency	AR	100	32 of 32
*MPDZ*	Hydrocephalus	AR	99.44	58 of 58
*MPLKIP*	Trichothiodystrophy	AR	100	13 of 13
*MRE11*	Ataxia- Telangiectasia- Like Disorder Breast And Ovarian Cancer	AR	99.95	–
*MRPS16*	Oxidative Phosphorylation Deficiency	AR	100	1 of 1
*MSL3*	Basilicata- Akhtar Syndrome	X,XD,G	99.72	–
*MTHFR*	Neural Tube Defects, Schizophrenia, Thrombophiliavenous Thromboembolism, Homocystinuria, Methylene Tetrahydrofolate Reductase Deficiency, Anencephaly, Exencephaly	AD,AR	100	122 of 122
*MTHFS*	Neurodevelopmental Disorder, Microcephaly, Epilepsy, Hypomyelination	AR	100	5 of 5
*MTOR*	Focal Cortical Dysplasia Of Taylor, Smith- Kingsmore Syndrome, Macrocephaly, Intellectual Disability, Neurodevelopmental Disorder	AD	99.98	39 of 39
*MTRR*	Homocystinuria, Megaloblastic Anemia, Neural Tube Defects, Methylcobalamin Deficiency	AR	100	39 of 40
*MUSK*	Fetal Akinesia Deformation Sequence, Myasthenic Syndrome, Acetylcholinereceptor Deficiency	AR	95.58	23 of 25
*MYMK*	Carey- Fineman– Ziter Syndrome	AR	100	–
*MYOD1*	Myopathy, Diaphragmatic Defects, Respiratory Insufficiency, Dysmorphic Facies, Fetal Akinesia Deformation Sequence	AR	99.97	6 of 6
*MYORG*	Basal Ganglia Calcification, Striopallidodentate Calcinosis	AR	100	–
*NAA10*	Microphthalmia, Ogden Syndrome	X,XR,XD,G	99.86	–
*NADK2*	2,4-Dienoyl-Coa Reductase Deficiency, Progressive Encephalopathy, Leukodystrophy	AR	95.37	3 of 3
*NANS*	Spondyloepimetaphyseal Dysplasia	AR	99.97	12 of 12
*NCAPD3*	Microcephaly	AR	99.97	4 of 5
*NDE1*	Lissencephaly, Microhydranencephaly, Hydranencephaly	AR	86.55	12 of 13
*NDN*	Prader-Willi Syndrome	AD	97.41	2 of 2
*NDUFA6*	Mitochondrial Complex I Deficiency	AR	100	9 of 9
*NDUFAF3*	Mitochondrial Complex I Deficiency, Leigh Syndrome With Cardiomyopathy	AR	100	9 of 9
*NDUFB11*	Linear Skin Defects, Microphthalmia, Mitochondrial Complex I Deficiency	X,XD,G	97.48	–
*NDUFB8*	Mitochondrial Complex I Deficiency, Leigh Syndrome, Cardiomyopathy	AR	100	4 of 4
*NDUFS2*	Mitochondrial Complex I Deficiency, Leber Optic Neuropathy, Leigh Syndrome, Cardiomyopathy, Leukodystrophy	AR	100	26 of 26
*NEK1*	Amyotrophic Lateral Sclerosis, Short Rib- Polydactyly Syndrome, Orofaciodigital Syndrome	AD,AR,MU,D	99.83	73 of 74
*NEK10*	Ciliary Dyskinesia	AR	99.95	3 of 3
*NEXMIF*	Mental Retardation	X,XR,XD,G	99.74	–
*NFIA*	Chromosome 1p32-P31 Deletion Syndrome	AD	92.5	7 of 7
*NFIX*	Marshall-Smith Syndrome, Sotos Syndrome, 19p13.3 Microduplication Syndrome, Malan Overgrowth Syndrome	AD	94.42	75 of 81
*NGLY1*	Congenital Disorder Of Glycosylation, Alacrimia- Choreoathetosis- Liver Dysfunction Syndrome	AR	99.8	28 of 28
*NID1*	Isolated Dandy-Walker Malformation	–	100	4 of 4
*NIPBL*	Cornelia De Lange Syndrome	AD	99.32	409 of 426
*NME8*	Ciliary Dyskinesia	AR	99.99	9 of 9
*NOTCH2NLC*	Neuronal Intranuclear Inclusion Disease, Tremor	AD	–	–
*NPAP1*	Prader- Willi Syndrome	AD	99.82	–
*NPHP3*	Meckel Syndrome, Nephronophthisis, Renal-Hepatic- Pancreatic Dysplasia, Senior-Loken Syndrome	AR	99.99	84 of 84
*NRAS*	Epidermal Nevus, Giant Pigmented Hairy Nevus, Neurocutaneous Melanosis, Noonan Syndrome, Autoimmune Lymphoproliferative Syndrome, Schimmelpenning– Feuerstein-Mims Syndrome, Multiple Cancer Types	AD	100	15 of 15
*NSD1*	Sotos Syndrome, 5q35 Microduplication Syndrome, Weaver Syndrome	AD	99.8	451 of 459
*NSD2*	Wolf- Hirschhorn Syndrome	AD	99.91	–
*NUP188*	Sandestig- Stefanova Syndrome	AR	100	6 of 6
*NUP88*	Fetal Akinesia Deformation Sequence	AR	95.82	3 of 3
*OCLN*	Pseudo-Torch Syndrome, Intrauterine Infection-Like Syndrome	AR	86.89	15 of 17
*OCRL*	Dent Disease, Lowe Oculocerebrorenal Syndrome	X,XR,G	100	–
*ODAD1*	Ciliary Dyskinesia	AR	99.68	10 of 10
*ODAD2*	Ciliary Dyskinesia	AR	97.3	26 of 28
*ODAD3*	Ciliary Dyskinesia	AR	95	4 of 4
*ODAD4*	Ciliary Dyskinesia	AR	–	–
*ODC1*	Colorectal Cancer, Global Developmental Delay, Alopecia, Macrocephaly, Facial Dysmorphism, Structural Brain Anomalies	AD	100	7 of 7
*OFD1*	Joubert Syndrome, Orofaciodigital Syndrome, Retinitis Pigmentosa, Simpson-Golabi– Behmel Syndrome, Orofaciodigital Syndrome, Primary Ciliary Dyskinesia	X,XR,XD,G	98.09	–
*OPHN1*	Mental Retardation, Cerebellar Hypoplasia, Distinctivefacial Appearance	X,XR,G	100	–
*OSGEP*	Galloway- Mowat Syndrome	AR	99.17	19 of 19
*OSTM1*	Osteopetrosis, Neuroaxonal Dysplasia	AR	100	8 of 9
*OTUD6B*	Intellectual Developmental Disorder, Seizures, Distal Limb Anomalies, Facial Dysmorphism, Global Developmental Delay	AR	99.81	7 of 7
*PAFAH1B1*	Lissencephaly, 17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome	AD	99.95	90 of 92
*PALB2*	Fanconi Anemia, Breast And Ovarian Cancer	AD,AR	98.78	601 of 617
*PARN*	Dyskeratosis Congenita, Pulmonary Fibrosis, Bone Marrow Failure, Hoyeraal- Hreidarsson Syndrome	AD,AR	99.98	33 of 33
*PAX6*	Aniridia, Anterior Segment Dysgenesis, Coloboma Of Optic Nerve, Foveal Hypoplasia, Presenile Cataract, Keratitis, Wilms Tumor, Cerebellar Ataxia, Intellectual Disability, Morning Glory Disc Anomaly, Peters Anomaly, Wagr Syndrome	AD	100	460 of 485
*PCNT*	Microcephalic Osteodysplastic Primordial Dwarfism, Seckel Syndrome	AR	99.92	103 of 105
*PDGFB*	Basal Ganglia Calcification, Meningioma, Bilateral Striopallidodentate Calcinosis, Dermatofibrosarcoma Protuberans	AD	100	22 of 22
*PDGFRB*	Basal Ganglia Calcification, Kosaki Overgrowth Syndrome, Myeloproliferative Disorder, Myofibromatosis, Premature Aging Syndrome	AD	99.64	28 of 28
*PDHA1*	Pyruvate Decarboxylase Deficiency, Leigh Syndrome, Leukodystrophy	X,XD,G	99.02	–
*PHACTR1*	Epileptic Encephalopathy, West Syndrome	AD	99.89	5 of 5
*PHC1*	Microcephaly	AR	91.73	1 of 1
*PHGDH*	Neu-Laxova Syndrome, Phosphoglycerate Dehydrogenase Deficiency	AR	100	26 of 26
*PIEZO2*	Arthrogryposis, Gordon Syndrome, Marden- Walker Syndrome	AD,AR	96.93	37 of 37
*PIGB*	Epileptic Encephalopathy	AR	99.97	10 of 10
*PIGN*	Multiple Congenital Anomalies, Hypotonia, Seizures, Fryns Syndrome	AR	93.97	36 of 39
*PIGO*	Hyperphosphatasia, Mental Retardation	AR	99.93	21 of 21
*PIGQ*	Epileptic Encephalopathy	AR	99.99	4 of 4
*PIK3CA*	Capillary Malformation Of The Lower Lip, Lipomatous Overgrowth, Multiple Cancer Types, Cowden Syndrome, Epidermal Nevus, Keratosis, Macrocephaly, Megalodactyly, Hemihyperplasia, Lynch Syndrome, Megalencephaly, Polymicrogyria	AD	99.58	54 of 58
*PIK3CD*	Immunodeficiency, Faciooculoskeletal Anomalies	AD	100	23 of 23
*PLAA*	Neurodevelopmental Disorder, Progressive Microcephaly, Spasticity, Brain Anomalies	AR	99.41	6 of 6
*PLG*	Plasminogen Deficiency, Hypoplasminogenemia	AR	100	79 of 79
*PLPBP*	Epilepsy	AR	100	–
*PMM2*	Congenital Disorder Of Glycosylation	AR	100	127 of 129
*PMPCA*	Spinocerebellar Ataxia, Cerebelloparenchymal Disorder	AR	99.91	9 of 9
*PNKP*	Ataxia- Oculomotor Apraxia, Charcot-Marie- Tooth Disease, Epileptic Encephalopathy	AR	100	36 of 36
*POLR2A*	Neurodevelopmental Disorder, Hypotonia	AD	100	17 of 17
*POLR3A*	Leukodystrophy, Oligodontia, Hypogonadotropic Hypogonadism, Progeroid Syndrome, Hypomyelination, Hypodontia, Tremor, Ataxia, Wiedemann- Rautenstrauch Syndrome	AR	100	122 of 122
*POMGNT1*	Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Retinitis Pigmentosa, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome	AR	99.91	82 of 83
*POMGNT2*	Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Retinitis Pigmentosa, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome	AR	100	10 of 10
*POMK*	Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Retinitis Pigmentosa, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome	AR	99.99	8 of 8
*POMT1*	Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease, Walker-Warburg Syndrome	AR	100	105 of 105
*POMT2*	Muscular Dystrophy- Dystroglycanopathy, Muscle-E ye- Brain Disease, Limb-Girdle Muscular Dystrophy, Walker- Warburg Syndrome	AR	100	74 of 74
*PPP1CB*	Noonan Syndrome	AD	99.87	12 of 12
*PPP2CA*	Neurodevelopmental Disorder, Language Delay	AD	99.9	14 of 14
*PPP2R1A*	Mental Retardation, Microcephaly, Corpus Callosum Hypoplasia	AD	91.99	6 of 6
*PPP2R5D*	Mental Retardation, Macrocephaly, Hypotonia	AD	100	11 of 11
*PRDM16*	Left Ventricular Noncompaction, 1p36 Deletion Syndrome, Dilated Cardiomyopathy	AD	98.81	20 of 20
*PRNP*	Creutzfeldt- Jakob Disease, Insomnia, Gerstmann- Straussler Disease, Huntington Disease, Kuru, Spongiform Encephalopathy, Neuropsychiatric Features, Alzheimer	AD	100	69 of 69
*PSAT1*	Neu-Laxova Syndrome, Phosphoserine Aminotransferase Deficiency	AR	99.95	9 of 9
*PTCH1*	Basal Cell Carcinoma, Holoprosencephaly, Gorlin Syndrome, Monosomy 9q22.3	AD	98.89	498 of 502
*PTPN23*	Neurodevelopmental Disorder, Structural Brain Anomalies, Seizures, Spasticity	AR	99.99	17 of 17
*PUF60*	Verheij Syndrome, 8q24.3 Microdeletion Syndrome, Intellectual Disability, Cardiac Anomalies, Short Stature, Joint Laxity	AD	100	30 of 30
*PUS3*	Mental Retardation, Severe Growth Deficiency, Strabismus, Extensive Dermal Melanocytosis	AR	99.01	8 of 9
*PWAR1*	Prader-Willi Syndrome	AD	–	–
*PWRN1*	Prader-Willi Syndrome	AD	–	–
*PYCR2*	Leukodystrophy, Microcephaly	AR	98.29	14 of 14
*QARS1*	Microcephaly, Cerebral Atrophy	AR	–	–
*RAB18*	Warburg Micro Syndrome, Micro Syndrome	AR	100	4 of 4
*RAC1*	Mental Retardation, Microcephaly, Corpus Callosum, Cerebellar Vermis Hypoplasia, Facial Dysmorphism	AD	98.73	9 of 9
*RAC3*	Neurodevelopmental Disorder, Structural Brain Anomalies, Dysmorphic Facies	AD	94.13	5 of 5
*RAD21*	Cornelia De Lange Syndrome, Mungan Syndrome	AD,AR	99.8	16 of 17
*RAD51*	Breast And Ovarian Cancer, Fanconi Anemia, Mirror Movements	AD	99.98	16 of 16
*RAD51C*	Breast- Ovarian Cancer, Fanconi Anemia	AR	100	130 of 130
*RAI1*	Smith-Magenis Syndrome, 17p11.2 Microduplication Syndrome	AD	99.91	50 of 53
*RAPSN*	Fetal Akinesia Deformation Sequence, Myasthenic Syndrome, Acetylcholine Receptor Deficiency	AR	99.98	59 of 61
*RERE*	Neurodevelopmental Disorder, Anomalies Of The Brain, Eye Or Heart, 1p36 Deletion Syndrome	AD	92.43	21 of 21
*RFWD3*	Fanconi Anemia	AR	99.99	2 of 2
*RHOBTB2*	Epileptic Encephalopathy	AD	100	6 of 6
*RNASEH2A*	Aicardi- Goutieres Syndrome	AR	100	23 of 23
*RNASEH2B*	Aicardi- Goutieres Syndrome	AR	99.95	41 of 41
*RNASEH2C*	Aicardi- Goutieres Syndrome	AR	100	14 of 14
*RNASET2*	Leukoencephalopathy	AR	100	11 of 13
*RNF113A*	Trichothiodystrophy	X,XD,G	99.7	–
*RNF125*	Tenorio Syndrome	AD	100	3 of 3
*RNF213*	Moyamoya Disease	–	99.82	109 of 110
*ROGDI*	Kohlschutter-Tonz Syndrome, Amelocerebrohypohidrotic Syndrome	AR	99.83	10 of 12
*RPGR*	Cone-Rod Dystrophy, Macular Degeneration, Retinitis Pigmentosa, Deafness, Achromatopsia, Ciliary Dyskinesia	X,XR,G	94	–
*RPGRIP1*	Cone-Rod Dystrophy, Leber Amaurosis, Meckel Syndrome	AR	99.33	146 of 159
*RPGRIP1L*	Coach Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.96	52 of 52
*RPS6KA3*	Coffin-Lowry Syndrome, Mental Retardation	X,XD,G	99.95	–
*RRAS2*	Noonan Syndrome	AD	99.8	6 of 6
*RSPH1*	Ciliary Dyskinesia	AR	100	10 of 10
*RSPH3*	Ciliary Dyskinesia	AR	99.85	5 of 5
*RSPH4A*	Ciliary Dyskinesia	AR	99.98	27 of 27
*RSPH9*	Ciliary Dyskinesia	AR	100	13 of 13
*RTEL1*	Dyskeratosis Congenita, Pulmonary Fibrosis, Bone Marrow Failure, Hoyeraal- Hreidarsson Syndrome	AD,AR	99.73	127 of 131
*RTTN*	Microcephaly, Polymicrogyria, Seizures, Dwarfism	AR	99.94	28 of 29
*RXYLT1*	Muscular Dystrophy- Dystroglycanopathy, Walker-Warburg Syndrome	AR	99.46	–
*SAMHD1*	Aicardi-Goutieres Syndrome, Chilblain Lupus	AD,AR	100	51 of 51
*SASS6*	Microcephaly	AR	99.14	6 of 6
*SCO2*	Cardioencephalomyopathy, Cytochrome C Oxidasedeficiency, Myopia, Charcot- Marie-Tooth Disease, Copper Metabolism Defect, Leigh Syndrome	AD,AR	100	38 of 38
*SEC31A*	Neurodevelopmental Disorder, Spastic Quadriplegia, Optic Atrophy, Seizures	AR	99.92	3 of 3
*SEMA3E*	Charge Syndrome, Hypogonadotropic Hypogonadism	AD,AR	99.81	6 of 7
*SETBP1*	Mental Retardation, Schinzel-Giedion Syndrome, Expressive Aphasia, Facial Dysmorphism Syndrome	AD	98.61	43 of 43
*SETD2*	Luscan-Lumish Syndrome, Sotos Syndrome	AD	99.83	19 of 19
*SETD5*	Mental Retardation, Cornelia De Lange Syndrome	AD	99.77	37 of 37
*SH2B1*	16p11.2 Microdeletion Syndrome, Obesity, Insulin Resistance Syndrome	–	99.98	25 of 25
*SHANK3*	Phelan-Mcdermid Syndrome, Schizophrenia, Monosomy 22q13.3	AD,MU,P	96.67	–
*SHH*	Holoprosencephaly Microphthalmia, Schizencephaly, Hypoplastic Tibiae, Postaxial Polydactyly, Radial Hemimelia, Syndactyly	AD	99.48	161 of 184
*SHPK*	Sedoheptulokinase Deficiency	–	99.96	2 of 2
*SIM1*	6q16 Microdeletion Syndrome, Obesity, Prader-Willi-Like Syndrome	–	99.64	39 of 40
*SIN3A*	Chromosome 15q24 Deletion Syndrome, Mental Retardation	AD	99.94	18 of 18
*SKI*	Shprintzen-Goldberg Syndrome, 1p36 Deletion Syndrome	AD	99.66	39 of 39
*SLC12A6*	Peripheral Neuropathy, Corpus Callosum Agenesis	AR	100	21 of 21
*SLC13A5*	Epileptic Encephalopathy, Amelocerebrohypohidrotic Syndrome	AR	95.92	24 of 24
*SLC18A3*	Myasthenic Syndrome, Fetal Akinesia Deformation Sequence	AR	99.97	5 of 5
*SLC20A2*	Basal Ganglia Calcification, Bilateral Striopallidodentate Calcinosis	AD	99.96	123 of 127
*SLC25A1*	Hydroxyglutaric Aciduria, Myasthenic Syndrome	AR	90	23 of 25
*SLC25A19*	Microcephaly, Thiamine Metabolism Dysfunction Syndrome	AR	97.13	10 of 10
*SLC35A2*	Congenital Disorder Of Glycosylation	X,XD,G	99.97	–
*SLC39A8*	Congenital Disorder Of Glycosylation	AR	99.89	7 of 7
*SLC6A9*	Glycine Encephalopathy	AR	99.99	5 of 5
*SLC9A6*	Mental Retardation, Christianson Syndrome	X,XD,G	98.87	–
*SLX4*	Fanconi Anemia	AR	99.92	76 of 76
*SMARCA4*	Coffin-Siris Syndrome, Rhabdoid Tumor Predisposition Syndrome	AD	100	68 of 69
*SMARCB1*	Coffin-Siris Syndrome, Rhabdoid Tumor Predisposition Syndrome, Schwannomatosis, Meningioma	AD	100	97 of 99
*SMARCC2*	Coffin-Siris Syndrome	AD	99.49	16 of 16
*SMARCD1*	Coffin-Siris Syndrome	AD	93.17	7 of 7
*SMARCE1*	Coffin-Siris Syndrome, Meningioma	AD	98.98	15 of 15
*SMC1A*	Cornelia De Lange Syndrome, Semilobar Holoprosencephaly, Wiedemann- Steiner Syndrome	X,XR,XD,G	100	–
*SMC3*	Cornelia De Lange Syndrome	AD	100	30 of 30
*SMG9*	Heart And Brain Malformation Syndrome	AR	100	4 of 4
*SMO*	Basal Cell Carcinoma, Craniofacial Malformations, Hypothalamic Hamartomascongenital Hypothalamic Hamartoma Syndrome, Curry-Jones Syndrome, Meningioma	AR	94.03	10 of 10
*SNIP1*	Psychomotor Retardation, Epilepsy, Craniofacial Dysmorphism	AR	99.68	1 of 1
*SNORD115-1*	Prader-Willi Syndrome	AD	–	–
*SNORD116-1*	Prader-Willi Syndrome	AD	–	–
*SNRPN*	Autism, Prader-Willi Syndrome	AD,MU	100	2 of 2
*SON*	Zttk Syndrome, Brain Malformations, Musculoskeletal Abnormalities, Facial Dysmorphism, Intellectual Disability	AD	99.27	30 of 32
*SOX11*	Mental Retardation, Coffin-Siris Syndrome	AD	95.23	11 of 11
*SOX4*	Coffin-Siris Syndrome	AD	75.52	4 of 4
*SOX9*	Campomelic Dysplasia, Testicular Disorder Of Sex Development, Partial Gonadal Dysgenesis, Pierre Robin Syndrome	AD	97.28	87 of 95
*SPAG1*	Ciliary Dyskinesia	AR	94.8	11 of 12
*SPECC1L*	Facial Clefting, Hypertelorism, Opitz Gbbb Syndrome	AD	99.66	14 of 14
*SPEF2*	Spermatogenic Failure, Ciliary Dyskinesia	AR	99.6	10 of 13
*SPG11*	Amyotrophic Lateral Sclerosis, Charcot-Marie- Tooth Disease, Spastic Paraplegia	AR	99.93	289 of 297
*STAC3*	Native American Myopathy	AR	99.98	5 of 5
*STIL*	Microcephaly	AR	99.94	18 of 18
*STK36*	Ciliary Dyskinesia	–	100	5 of 5
*STRADA*	Polyhydramnios, Megalencephaly, Symptomatic Epilepsy	AR	97.95	4 of 6
*SUCLA2*	Mitochondrial Dna Depletion Syndrome, Methylmalonic Aciduria	AR	100	27 of 27
*SUFU*	Basal Cell Nevus Syndrome, Joubert Syndrome, Medulloblastoma, Acrocallosal Syndrome, Gorlin Syndrome, Meningioma, Microform Holoprosencephaly	AD,AR	99.99	43 of 43
*SUMF1*	Multiple Sulfatase Deficiency	AR	100	52 of 52
*SURF1*	Charcot-Marie- Tooth Disease, Leigh Syndrome, Cardiomyopathy, Leukodystrophy	AR,MI	98.59	117 of 124
*TAF1*	Dystonia, Mental Retardation, Dystonia, Parkinson Disease, Global Development Delay, Facial Dysmorphism, Sacral Caudal Remnant	X,XR,G	99.74	–
*TAF13*	Mental Retardation, Microcephaly	AR	99.97	5 of 5
*TAPT1*	Osteochondrodysplasia	AR	89.49	3 of 3
*TARS1*	Trichothiodystrophy	AR	99.94	–
*TBC1D24*	Deafness, Doors Syndrome, Epilepsy, Epileptic Encephalopathy	AD,AR	100	80 of 80
*TBCD*	Encephalopathy, Brain Atrophy, Thin Corpus Callosum, Microcephaly, Muscle Weakness Optic Atrophy	AR	94.89	28 of 28
*TBCE*	Encephalopathy, Amyotrophy, Optic Atrophy, Hypoparathyroidism, Kenny-Caffey Syndrome, Spastic Ataxia, Distal Spinal Muscular Atrophy, Sanjad-Sakati Syndrome	AR	100	8 of 8
*TBCK*	Hypotonia, Psychomotor Retardation, Intellectual Disability	AR	99.95	15 of 15
*TBL1XR1*	Mental Retardation, Pierpont Syndrome, Promyelocytic Leukemia	AD	99.78	23 of 23
*TCTN2*	Joubert Syndrome, Meckel Syndrome	AR	100	14 of 14
*TERT*	Aplastic Anemia, Dyskeratosis Congenita, Leukemia, Melanoma, Pulmonary Fibrosis, Bone Marrow Failure, Hoyeraal- Hreidarsson Syndrome, Meningioma	AD,AR	99.09	194 of 197
*TET3*	Beck-Fahrner Syndrome	AD,AR	97.53	1 of 1
*TGDS*	Catel-Manzke Syndrome	AR	99.99	7 of 7
*THOC2*	Mental Retardation, Short Stature, Overweight	X,XR,G	96.31	–
*THOC6*	Microcephaly, Cardiac And Genitourinary Malformations, Developmental Delay, Facial Dysmorphism	AR	100	13 of 13
*TINF2*	Dyskeratosis Congenita, Revesz Syndrome, Hoyeraal-Hreidarsson Syndrome	AD	99.94	47 of 47
*TMCO1*	Cerebrofaciothoracic Dysplasia	AR	88	5 of 5
*TMEM107*	Meckel Syndrome, Orofaciodigital Syndrome	AR	100	3 of 3
*TMEM138*	Joubert Syndrome, Oculorenal Defect	AR	99.94	9 of 9
*TMEM216*	Joubert Syndrome, Meckel Syndrome, Orofaciodigital Syndrome	AR	98.74	8 of 8
*TMEM231*	Joubert Syndrome, Meckel Syndrome, Oculorenal Defect, Orofaciodigital Syndrome	AR	98.63	20 of 21
*TMEM237*	Joubert Syndrome, Oculorenal Defect	AR	100	11 of 11
*TMEM67*	Bardet-Biedl Syndrome, Coach Syndrome, Joubert Syndrome, Meckel Syndrome, Nephronophthisis, Rhyns Syndrome, Hepatic Defect	AR	96.93	177 of 179
*TMTC3*	Lissencephaly, Periventricular Nodular Heterotopia	AR	99.04	10 of 10
*TMX2*	Neurodevelopmental Disorder, Microcephaly, Cortical Malformations, Spasticity	AR	99.98	12 of 12
*TNFRSF11A*	Osteopetrosis, Paget Disease Of Bone, Polyostotic Osteolytic Dysplasia, Dysosteosclerosis	AD,AR	96.37	17 of 22
*TNNI3*	Cardiomyopathy	AD,AR	100	139 of 139
*TPRKB*	Galloway- Mowat Syndrome	AR	85.66	2 of 2
*TRAF7*	Cardiac, Facial, And Digital Anomalies, Developmental Delay, Meningioma	AD	100	5 of 5
*TRAIP*	Seckel Syndrome	AR	100	2 of 2
*TRAPPC12*	Encephalopathy, Brain Atrophy, Spasticity, Hearing Loss, Pons Hypoplasia, Brain Atrophy	AR	99.98	3 of 3
*TRAPPC14*	Microcephaly	AR	–	–
*TRAPPC6B*	Neurodevelopmental Disorder, Microcephaly, Epilepsy, Brain Atrophy	AR	100	4 of 4
*TREM2*	Polycystic Lipomembranous Osteodysplasia, Sclerosing Leukoencephalopathy, Amyotrophic Lateral Sclerosis, Frontotemporal And Semantic Dementia, Alzheimer Disease, Nasu- Hakola Disease, Non-Fluent Aphasia	AD	100	55 of 55
*TREX1*	Aicardi-Goutieres Syndrome, Lupus Erythematosus, Vasculopathy, Leukodystrophy	AD,AR	100	75 of 75
*TRIM37*	Mulibrey Nanism	AR	97	20 of 22
*TRIM71*	Hydrocephalus	AD	97.46	2 of 2
*TRIP13*	Mosaic Variegated Aneuploidy Syndrome, Nephroblastoma	AR	98.14	2 of 2
*TRPS1*	Trichorhinophalangeal Syndrome	AD	99.45	108 of 112
*TSEN2*	Pontocerebellar Hypoplasia	AR	95.47	4 of 5
*TSFM*	Oxidative Phosphorylation Deficiency	AR	93.35	11 of 14
*TTC12*	Ciliary Dyskinesia	AR	99.97	–
*TUBA1A*	Lissencephaly	AD	100	95 of 95
*TUBB*	Cortical Dysplasia	AD	100	8 of 8
*TUBB2A*	Cortical Dysplasia	AD	81.71	5 of 7
*TUBB2B*	Cortical Dysplasia, Dysequilibrium Syndrome, Polymicrogyria	AD	84.28	29 of 38
*TUBB3*	Cortical Dysplasia, Fibrosis Of Extraocular Muscles, Cortical Dysgenesis, Pontocerebellar Hypoplasia	AD	99.96	30 of 30
*TYROBP*	Polycystic Lipomembranous Osteodysplasia, Sclerosing Leukoencephalopathy, Nasu-Hakola Disease	AR	100	12 of 13
*UBE2T*	Fanconi Anemia	AR	100	4 of 4
*UBE3B*	Kaufman Oculocerebrofacial Syndrome	AR	100	28 of 28
*UBTF*	Neurodegeneration, Motor And Cognitive Regression Syndrome, Extrapyramidal Movement Disorder	AD	99.99	2 of 2
*UGDH*	Epileptic Encephalopathy	AR	99.98	2 of 2
*USP18*	Pseudo-Torch Syndrome	AR	95.84	1 of 1
*USP7*	16p13.2 Microdeletion Syndrome	AD	99.98	18 of 18
*USP9X*	Facial Dysmorphism, Short Stature, Intellectual Disability	X,XR,XD,G	98.61	–
*VPS11*	Leukodystrophy	AR	100	2 of 2
*VPS13A*	Choreoacanthocytosis	AR	99.37	120 of 122
*VPS37A*	Spastic Paraplegia	AR	99.95	2 of 2
*VPS51*	Pontocerebellar Hypoplasia	AR	99.98	1 of 1
*WAC*	Desanto-Shinaw i Syndrome, Facial Dysmorphism, Developmental Delay, Behavioral Abnormalities	AD	98.98	35 of 35
*WARS2*	Neurodevelopmental Disorder, Lactic Acidosis, Oxidative Phosphorylation Defect	AR	99.95	14 of 15
*WASF1*	Neurodevelopmental Disorder, Absent Language, Seizures	AD	97.03	3 of 3
*WASHC5*	Dandy-Walker Malformation, Atrioventricular Septal Defect, Spastic Paraplegia, 3c Syndrome	AD,AR	99.99	–
*WDPCP*	Bardet-Biedl Syndrome, Congenital Heart Defects, Hamartomas Of Tongue, Polysyndactyly, Heart Defect, Tongue Hamartoma, Meckel Syndrome	AR	99.3	8 of 8
*WDR26*	Skraban-Deardorff Syndrome, Intellectual Disability, Seizures, Facial Dysmorphism	AD	99.31	22 of 22
*WDR35*	Cranioectodermal Dysplasia, Short-Rib Thoracic Dysplasia, Polydactyly	AR	100	31 of 33
*WDR45B*	Neurodevelopmental Disorder, Spastic Quadriplegia, Brain Abnormalities, Seizures	AR	99	4 of 4
*WDR62*	Microcephaly	AR	100	60 of 61
*WDR73*	Galloway- Mowat Syndrome, Camos Syndrome	AR	95.71	14 of 14
*WDR81*	Cerebellar Hypoplasia, Mental Retardation, Hydrocephalus, Brain Anomalies, Dysequilibrium Syndrome	AR	99.94	19 of 19
*WHCR*	Wolf-Hirschhorn Syndrome	AD	na	–
*XPR1*	Basal Ganglia Calcification, Bilateral Striopallidodentate Calcinosis	AD	99.88	14 of 14
*XRCC2*	Fanconi Anemia, Male Infertility	AR	98.39	28 of 28
*XRCC4*	Short Stature, Microcephaly, Endocrine Dysfunction, Lig4 Syndrome, Dwarfism	AR	99.73	10 of 10
*YWHAE*	17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome	–	98.99	0 of 1
*YY1*	Gabriele-De Vries Syndrome	AD	99.89	13 of 13
*ZBTB11*	Intellectual Developmental Disorder	AR	99.56	2 of 2
*ZC4H2*	Wieacker-Wolff Syndrome, Intellectual Disability, Developmental Delay	X,XR,XD,G	99.69	–
*ZEB2*	Mowat-Wilson Syndrome	AD	98.95	253 of 254
*ZIC1*	Craniosynostosis, Structural Brain Anomalies, Impaired Intellectual Development, Brachycephaly, Oxycephaly, Plagiocephaly	AD	100	7 of 7
*ZMIZ1*	Neurodevelopmental Dysmorphic Facies, Distal Skeletal Anomalies	AD	98.87	13 of 13
*ZMYND10*	Ciliary Dyskinesia	AR	99.98	16 of 16
*ZNF148*	Global Developmental Delay	AD	99.82	4 of 4
*ZNF335*	Microcephaly, Dwarfism	AR	99.83	20 of 20
*ZNF462*	Weiss- Kruszka Syndrome	AD	100	21 of 21
*ZNHIT3*	Peho Syndrome	AR	73.96	1 of 1
*ZSWIM6*	Acromelic Frontonasal Dysostosis, Neurodevelopmental Disorder, Movement Abnormalities, Abnormal Gait, And Autistic Features	AD	91.16	2 of 2

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

See scientific referrals

Perlman S, Shashar D, Hoffmann C, Yosef OB, Achiron R, Katorza E. Prenatal diagnosis of fetal ventriculomegaly: Agreement between fetal brain ultrasonography and MR imaging. AJNR Am J Neuroradiol. 2014 Jun;35(6):1214-8. doi: 10.3174/ajnr.A3839. Epub 2014 Jan 16. PMID: 24436347

Society for Maternal-Fetal Medicine (SMFM);. Electronic address: pubs@smfm.org, Fox, N. S., Monteagudo, A., Kuller, J. A., Craigo, S., & Norton, M. E. (2018). Mild fetal ventriculomegaly: diagnosis, evaluation, and management. American journal of obstetrics and gynecology, 219(1), B2–B9. https://doi.org/10.1016/j.ajog.2018.04.039

Kahle, K. T., Kulkarni, A. V., Limbrick, D. D., Jr, & Warf, B. C. (2016). Hydrocephalus in children. Lancet (London, England), 387(10020), 788–799. https://doi.org/10.1016/S0140-6736(15)60694-8

Wang, Y., Hu, P., & Xu, Z. (2018). Copy number variations and fetal ventriculomegaly. Current opinion in obstetrics & gynecology, 30(2), 104–110. https://doi.org/10.1097/GCO.0000000000000439

Yi, J. L., Zhang, W., Meng, D. H., Ren, L. J., Yu, J., & Wei, Y. L. (2019). Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital. The Journal of international medical research, 47(11), 5508–5517. https://doi.org/10.1177/0300060519853405

Pisapia, J. M., Sinha, S., Zarnow, D. M., Johnson, M. P., & Heuer, G. G. (2017). Fetal ventriculomegaly: Diagnosis, treatment, and future directions. Child’s nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 33(7), 1113–1123. https://doi.org/10.1007/s00381-017-3441-y

Scelsa, B., Rustico, M., Righini, A., Parazzini, C., Balestriero, M. A., Introvini, P., Spaccini, L., Mastrangelo, M., Lista, G., Zuccotti, G. V., & Veggiotti, P. (2018). Mild ventriculomegaly from fetal consultation to neurodevelopmental assessment: A single center experience and review of the literature. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 22(6), 919–928. https://doi.org/10.1016/j.ejpn.2018.04.001

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Ventriculomegaly Precision Panel

Ventriculomegaly is the term used to describe ventricular dilation unrelated to increased cerebrospinal fluid pressure, such as dilation due to brain dysgenesis or atrophy.

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