• KIF2A-related disorder, complex cortical dysplasia with other brain CHC Disease malformations, CDCBM3 • Leri-Weill dyschondrosteo sis (LWD( • Long QT syndrome (KCNQ1) List • Lynch Syndrome (MSH2) • MAP3K7 related disorder
• Marfan syndrome (FBN1) Autosomal Dominant • Mental retardation 5 (SYN GAP1) • ADCY5-related Dyskinesia • Mental retardation 7 (DYRK1A) • Apert Syndrome (FGFR2). • Mental retardation 23 (SETD5) • Autosomal Dominant Poly cystic Kidney • Mental retardation 26 (AUTS2) Disease • Mental retardation 31 (PURA • Benign f amilial infantile seizures 2 syndrome) (BFIS2) (PRRT2) • Mental reta rdation 46 (KCNQ5) • Catecholaminer gic polymorphic • Moebius syndrome ventricular tachycardia-1 (CPVT1) • Mowat Wilson Synd rome (ZEB2) • Central Core Disease (RYR1 relate d • Myotonic dystrophy 1 (DMPK) disorder) • Neurofibromatosis 1 • Charcot-M arie-Tooth type 1A • Osteogenesis Imperf ecta, different • Childhood-onset epileptic types (COL1A1, COL1A2 ) encephalopathy (EEOC) (CHD2) • Retinitis pigmentosa (NR2 E3) • Congenital myasthenic syndrom e • RET-related disorder (Hirschsp rung (CMS-CHRNE) disease) • Dravet Syndro me (SCN1A) • Rubinste in-Taybi syndrome (CREBBP • Dystonia 6 and EP300) • Ehlers Dan los syndrome, hypermobility • SCN2A-relat ed disorder type • Septooptic dysplasia • Ehler s Danlos syndrome, vascular type • Stickler syndrome (C OL2A1) • Familial hemiplegic migraines 1 • Syndactyly type 1 (CACNA1A) • Tuberous Sclerosi s (TSC2) • Familial tho racic aortic aneurysms and • White-Sutton Syndrome ( POGZ gene) dissections (FTAAD, MYLK) • FOXG1 syndrome Autosomal Recessive • Hereditary breast & ovarian cancer • 2-methylbuty ryl CoA dehydrogenase (BRCA1) • Heredita ry hemorrhagic telangiectasia deficiency (2MBCD) • 3-methylcrotonyl Co A carboxylase (ENG) • Hered itary melanoma-pancreatic deficiency (3MCC) • 21 hydroxylase def iciency (congenital cancer syndrome (CDKN2A ) • Hereditary pancreatitis (PRSS 1) adrenal hyperplasia (CAH) • Adenosine Deaminase (AD A SICD) • Hereditary paraganglioma pheochromocytoma type 1 (SDHA and deficiency • Adenosine Deaminase 2 (ADA 2) SDHD) • HNF4A -related hyperinsulinism and deficiency • Alpha-1 an titrypsin deficiency Maturity-onset diabetes of the young 1 • Alpha thalassemia (MODY1) • Amish brittle hair s yndrome • Hypertrop hic cardiomyopathy 4 • Argininosucciate lyase (ASL) deficiency (MYBPC3) • Beta ketothialase deficiency (BKT) • Hypotricho sis 1 • Biotinidase deficiency • Kabuki Syndrom e (KMT2D) • Cartilage hair hypoplasia (CHH) • Microcephalic osteodysplastic • Charcot-Marie-Tooth neuropath y type primordial dwarfism type I (MOPD1) 4A • Mitochondrial depletion syndrome 12 • CLN 6 disease; Late Infantile Neuronal (SLC25A4, ANT1) Ceroid Lipofuscinosis (rare form of • MYH-associated p olyposis. (MUTYH) Batten disease) • Non-ketotic hyperglycinemia (NKH) • Cobalamin C de fect (MMA + • Oculocutaneous albinism type 1B Homocystinuria) (Amish albinism) • Cockayne Syndro me (type B) • Phenylalanine Hy droxylase (PAH) • Combined oxidative phospho rylation deficiency (PKU) deficiency-13 (COXPD13) (PNPT1) • PMRED-SNIP1 • Cortical dysplasia and focal epilepsy • Pontocerebella r hypoplasia type 1 syndrome (CNTNAP2) (EXOSC3) • Crigler-Najjar syndrom e type 1 • Primary a utosome recessive • Cystic Fibrosis microcephaly-6 (MCPH)/Seckel • Dubin Johnson Syndrome syndrome 4 • Galactosemia (Classical an d Duarte • Primary Cilia ry Dyskinesia (HYDIN) variant) • Propionic acidemia (PCCB) • Gallowa y Mowat Syndrome (Yoder • RAG-1 Severe Combined Dystonia) Immunodeficiency (SCID) • Gitelman syndrome • Retinitis. Pigmentosa 49 ( CNGA1) • Glutaric aciduria 1 (G A 1) • RSRC1-related disorder • Glutaric aciduria 2 (GA 2) • Sanfilippo syndrome typ e B (MPS III B – • GM3 synthase deficiency NAGLU) • Friedreich Ataxia • Short ch ain acyl CoA dehydrogenase • Hemochromatosis deficiency (SCADD) • Hereditary spastic paraplegia 20 • Short Rib Thoracic D ysplasia type 4 (SPG20), Troyer Syndrome (TTC21B) • Hereditary spastic parapleg ia 21 • Sitosterol emia (ABCG8 ) (SPG21), Mast Syndrome • SMC5-related disorder (m icrocephalic • Hereditary spastic paraple gia 45 dwarfism) (NT5C2) • Spastic Ata xia 4 (MTPAP) • Hypomy elinating leukodystrophy • Spinal muscular atrophy 1 (SMA) (GJC2) • Systemic primary carnitine deficie ncy • Isobuty ryl CoA dehydrogenase • TANGO2-related recurrent metabolic deficiency encephalomyopathic crises associated • Isovaleric A cidemia with rhabdomyolysis, cardiac • Juvenile Parkinson’s Disease arrhythmias, and neurodegeneration (ARPD-PARKN) (MECRCN). • Limb Girdle Mu scular Dystrophy type • TMCO1 defe ct 2A • Trichohepatone urodevelopmental • Lim b Girdle Muscular Dystrophy type syndrome (THNS) (CCDC47) 2E • Tripeptidyl peptidase II (TPP 2) • Ma ple syrup urine disease (MSUD) deficiency • Meckel Syndrome (Meckel-Gruber) • Thyroid Dy shormonogenesis 2A (TPO) • Medium chain acyl CoA dehydrogen ase • Ullrich Congenital Muscular Dystrophy deficiency (MCADD) (COL6A1) • Mental retardation 4 4 (METTL23) • Very long chain acyl CoA • Methylmalonic acidemia, isolated dehydrogenase deficiency (VLCADD) (MMA) • Wilson disease • Wolfram syndrome (WFS1) • 20q13.33 duplication syndrome • Zellweger Spectrum Disorde r - • 22q11.2 deletion syndrome Peroxisomal Biogenesis (PEX26) • Klinefelter syndrome (47, XX Y) • Trisomy 9 (mosaic) • Trisomy 13 (Patau s yndrome) Mitochondrial • Trisomy 21 (Down syndrome) • Leber H ereditary Optic Neuropathy • Turner Syndrome (45, X) • Myoclonic Epilepsy with Ragged Red • Xp11.22 duplication Fibers (MERRF) • Xp22.32 terminal del etion (Turner-like
X-linked syndrome) • XYY syndro me • Creatine Transporter Deficiency
• Duchenne Muscular Dystrophy • Hemophilia B • MICPCH syndr ome (CASK related Imprinting Disorders: • Beckwith-W iedemann syndrome (BWS) disorder) (IC2 methylation defect) • Ohdo Syn drome (MED12) • Russell-Silver Syndrome • Beta-propeller protein-associated • UPD 6 neurodegeneration (BPAN) • Prader -Willi Syndrome (WDR45) • Oral-facia l-digital syndrome Other (central nervous system malformation, • Partial Androgen Insensitivity clinical diagnosis, cancer, etc.) syndrome (AR) • Acute disseminated • Steroid Sulfatas e Deficiency (X-linked encephalomyelitis (ADEM) Ichthyosis) • Acute myeloid leukemia • X-linked sy ndromic mental retardation, • Acute tic disorder Turner type (HUWE1) • Alcohol Related N eurodevelopmental Disorder (ARND) Chromosomal abnormalities • Addison’s disease • 1p36 deletion syndrome (mosaic) • Autism Spectrum Disorder • 1q43q44 deletion syndrome • Breast cancer • 1q43 terminal duplication sy ndrome • Breath holdin g spells • 4q partial trisomy syndrome • Carnitine deficiency • 5p, 9q, 16p duplication syndr omes • CHARGE syndrome (triple duplication) • Chronic inflammato ry Demyelinating • 6q27 microdeletion syndrome Polyneuropathy • 7p22.3 duplication • Cleft lip and/or palate • 7q11.23 microdupl ication syndrome • Cold urticaria/periodic fever • 9p terminal deletion syndrome • Congenital CMV infection • 10p 12.1 microdeletion syndrom e • Congenital Hypothyroidism • 10q22.3 duplication syndrome • Recurrent Colon cancer • 10q24 deletion syndrome • Endometriosis • 10q partial trisomy syndro me (mosaic) • Fetal Alcohol S yndrome (FAS) • 14q11.2 microdeletion syndrome • Hemimegalencephaly • 15q11.2 microdeletion syndrome • 15q11.2 triplication/duplication • Hirschsprung disease (isodicentric Chr 15) • Hypoxic Ischemic Encephalopathy • In utero stroke • 16p11.2 microdeleti on syndrome • Jeavons Syndro me • 16p13.11 microdeletion syndrom e • • Klippel-Trenaunay s yndrome 18q21.32 deletion syndrome • Lissencephaly • Microcephaly + Deafness • Pancreatic insufficiency • Paraganglioma • PHACE syndrom e • Polycystic kidney disease – suspected recessive inheritance • Prenatal Tobacco Exp osure (PTE) • Primary selective IgM deficiency • Renal oncocytosis • Retinitis pigmento sa • Sagittal craniosynost osis (isolated) • Schizencephaly & porencephaly • Severe prematurity • Spastic paraplegia ( unknown type/gene) • VATER synd rome • Vein of Galen arte riovenous malformation