Gene List and Symptom Guide Spotlight Panels. Panel Key Symptoms Diseases Genes. Epilepsy Spotlight Panels

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1 ; Gene List and Symptom Guide Spotlight Panels Absence Seizures Aicardi-Goutieres Syndrome Benign Epilepsies Absence seizures; Global developmental delay; Intellectual disability; Atonic seizures; EEG abnormality; Epileptic encephalopathy; Febrile seizures; Choreoathetosis; Status epilepticus; Ataxia; Autistic behavior; Cognitive impairment; Developmental regression; Dysarthria; Dyskinesia; Dystonia; Generalized tonic-clonic seizures; Headache; Hemiclonic seizures; Hyperreflexia; Hypoglycorrhachia; Migraine; Seizures Seizures; Hemiplegia/hemiparesis; Microcephaly; Cleft eyelid; Cognitive impairment; Holoprosencephaly; Hypertonia; Plagiocephaly; Porencephaly; Ptosis; Thrombocytopenia; Dystonia; Elevated hepatic transaminases; Antinuclear antibody positivity; Basal ganglia calcification; Cerebral atrophy; Cutaneous photosensitivity; Hepatosplenomegaly; Progressive microcephaly; Spasticity; Antiphospholipid antibody positivity; Arthritis; Cerebral calcification; Chilblain lesions; Chronic CSF lymphocytosis; CSF lymphocytic pleiocytosis Seizures; Global developmental delay; Intellectual disability; Epileptic encephalopathy; Febrile seizures; Focal clonic seizures; Focal seizures; Generalized tonic-clonic seizures; Abnormal renal physiology; Absence seizures; Atonic seizures; Generalized seizures; Hemiclonic seizures; Hypercalcemia; Hypercalciuria; Hyperparathyroidism; Migraine; Muscular hypotonia; Nephrolithiasis; Paroxysmal choreoathetosis; Paroxysmal dystonia; Short stature; Status epilepticus Epilepsy Spotlight Panels Epilepsy, Pyridoxine-dependent; Glycine Encephalopathy; Argininemia; Biotinidase Deficiencymultiple Carboxylase Deficiency, Late-onset; Carnitine Palmitoyltransferase II Deficiency; Dihydrolipoamide Dehydrogenase Deficiency; Neurodegeneration Due To Cerebral Folate Transport Deficiency; Guanidinoacetate Methyltransferase Deficiency; Cerebral Creatine Deficiency Syndrome 3; Glycine Encephalopathy; Hyperinsulinemic Hypoglycemia, Familial, 6; Tyrosinemia, Type III; Hawkinsinuria; Molybdenum Cofactor Deficiency, Complementation Group A; Niemann-pick Disease, Type C1 & C2; Pyruvate Dehydrogenase E1-alpha Deficiency & E3-binding Protein Deficiency; Neu-Laxova Syndrome; Phosphoglycerate Dehydrogenase Deficiency; Megalencephaly-capillary Malformationpolymicrogyria Syndrome; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Syndrome; Pyridoxamine 5-prime-phosphate Oxidase Deficiency; Phosphoserine Aminotransferase Deficiency; Hyperphenylalaninemia, BH4-deficient, C; Thiamine Metabolism Dysfunction Syndrome 2; Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome; GLUT1 Deficiency Syndrome 1 & 2; Dystonia 9; Folate Malabsorption, Hereditary; Cerebral Creatine Deficiency Syndrome 1; Hypomagnesemia With Secondary Hypocalcemia Aicardi-Goutieres Syndrome 1-5; Chilblain Lupus; Systemic Lupus Erythematosus; Vasculopathy, Retinal, With Cerebral Leukodystrophy Episodic Ataxia, Type 5; Hypocalcemia, Autosomal Dominant 1; Hypocalciuric Hypercalcemia, Familial, Type I; Hyperparathyroidism, Neonatal Severe Primary; Leukoencephalopathy With Ataxia; Epilepsy, Familial Adult Myoclonic, 5; Aniridia; Epileptic Encephalopathy, Early Infantile, 7 & 19; Seizures, Benign Familial Neonatal, 1; Epilepsy, Benign Neonatal, 2; Seizures, Benign Familial Infantile, 2; Episodic Kinesigenic Dyskinesia 1; Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis; Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-linked CACNA1H, CHD2, CLCN2, EFHC1, GABRA1, GABRA1, GABRB3, GABRG2, KCNMA1, SLC2A1, SYNGAP1 TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 CACNA1H, CACNB4, CASR, CLCN2, CNTN2, EFHC1, EFHC2, ELP4, GABRA1, GABRD, KCNQ2, KCNQ3, PRRT2, RBFOX1, SRPX2 Courtagen Life Sciences Inc. 8 Cabot Road Suite 2000 Woburn, MA Fax: MKT /2017

2 Brain Malformation Seizures EIEE Early Infantile Epileptic Encephalopathy Fever Sensitive Seizures Focal Seizures Intellectual disability; Seizures; Microcephaly; Cognitive impairment; Elevated serum creatine phosphokinase; Pachygyria; Scoliosis; Global developmental delay; Polymicrogyria; Cerebellar hypoplasia; Ventriculomegaly; Hydrocephalus; Hypertelorism; Infantile onset; Muscular hypotonia; Microphthalmos; Motor delay; Agenesis of corpus callosum; Hypoplasia of the brainstem; Strabismus; Variable expressivity; Aplasia/Hypoplasia of the corpus callosum; Congenital muscular dystrophy; Myopia; Optic atrophy; Short stature Intellectual disability; Epileptic encephalopathy; Global developmental delay; Seizures; Muscular hypotonia; Microcephaly; Status epilepticus; Infantile onset; Focal seizures; Generalized myoclonic seizures; Cerebral atrophy; Cognitive impairment; Developmental regression; Febrile seizures; Hypoplasia of the corpus callosum; Hypsarrhythmia; Spasticity; Generalized tonic-clonic seizures; Optic atrophy; Absence seizures; Atonic seizures; Delayed myelination; Dystonia; EEG abnormality; Hyperreflexia; Myoclonus Generalized tonic-clonic seizures; Febrile seizures; Focal seizures; Absence seizures; Atonic seizures; Infantile onset; Variable expressivity; Constipation; Seizures; Generalized myoclonic seizures; Global developmental delay; Status epilepticus; Aggressive behavior; Ataxia; Bradycardia; Childhood onset; Epileptic encephalopathy; Generalized seizures; Generalized tonic seizures; Hemiclonic seizures; Impaired pain sensation; Incoordination; Intellectual disability; Lacrimation abnormality; Mandibular pain; Migraine; Motor delay; Neonatal onset; Normal interictal EEG; Ocular pain; Paroxysmal choreoathetosis; Paroxysmal dystonia; Stereotypic behavior; Tachycardia Focal seizures; Seizures; Intellectual disability; Cognitive impairment; Microcephaly; Aggressive behavior; Prominent nasal bridge; Shagreen patch; Sloping forehead; Specific learning disability; Thick cerebral cortex; Type I lissencephaly; Attention deficit hyperactivity disorder; Autistic behavior; Status epilepticus Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratodermasyndrome; Corpus Callosum, Agenesis Of, With Abnormal Genitalia; Ehlers-danlos Syndrome With Periventricular Heterotopia; Epileptic Encephalopathy, Early Infantile, 1; Fg Syndrome 2; Focal Cortical Dysplasia Of Taylor; Frontometaphyseal Dysplasia; Heterotopia, Periventricular, X-linked Dominant; Holoprosencephaly 2 & 3; Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-linked; Lissencephaly 1-4 & X-linked 1-2; Lymphangioleiomyomatosis; Megalencephaly - Polymicrogyria - Postaxial Polydactyly - Hydrocephalus; Megalencephaly-capillary Malformation-polymicrogyria Syndrome; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Syndrome; Melnick-needles Syndrome; Mental Retardation, X-linked, With Or Without Seizures, Arx-related; Microcephaly 2, Primary, Autosomal Recessive, With Or Without Corticalmalformations; Microhydranencephaly; Microphthalmia, Isolated, With Coloboma 5; Muscular Dystrophy-dystroglycanopathy; Neu-laxova Syndrome; Otopalatodigital Syndrome, Type I & II; Partington X-linked Mental Retardation Syndrome; Periventricular Heterotopia With Microcephaly, Autosomal Recessive; Phosphoglycerate Dehydrogenase Deficiency; Polymicrogyria With Optic Nerve Hypoplasia; Polymicrogyria With Seizures; Schizencephaly; Solitary Median Maxillary Central Incisor; Terminal Osseous Dysplasia; Tuberous Sclerosis 1 & 2 Congenital Disorder Of Glycosylation; Cognitive Impairment With Or Without Cerebellar Ataxia; Mental Retardation, X-linked, With Or Without Seizures, Arx-related; Myoclonic Epilepsy, Infantile; Landaukleffner Syndrome; Mental Retardation, Autosomal Dominant 6; Epileptic Encephalopathy, Early Infantile & Childhood-onset; Rett Syndrome, Congenital Variant; Seizures, Benign Familial Infantile & Neonatal; Epilepsy, Nocturnal Frontal Lobe, 5; Epilepsy, Female-restricted, With Mental Retardation; Partington X-linked Mental Retardation Syndrome; Lissencephaly, X-linked, 2; Corpus Callosum, Agenesis Of, With Abnormal Genitalia Brugada Syndrome 5; Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis; Dravet Syndrome; Epilepsy, Familial Temporal Lobe, 5; Epilepsy, Female-restricted, With Mental Retardation; Epileptic Encephalopathy, Early Infantile, 11; Episodic Kinesigenic Dyskinesia 1; Erythermalgia, Primary; Febrile Convulsions, Familial, 4; Febrile Seizures, Familial, 11; Generalized Epilepsy With Febrile Seizures Plus; Indifference To Pain, Congenital, Autosomal Recessive; Mental Retardation, Autosomal Dominant 1; Migraine, Familial Hemiplegic, 3; Paroxysmal Extreme Pain Disorder; Seizures, Benign Familial Infantile; Usher Syndrome, Type IIC Epilepsy, Lateral Temporal Lobe, Autosomal Dominant; Lymphangioleiomyomatosis; Landau-kleffner Syndrome; Tuberous Sclerosis 1 & 2; Febrile Seizures, Familial, 11; Epilepsy, Familial Temporal Lobe; Epilepsy, Familial Focal, With Variable Foci; Epileptic Encephalopathy, Early Infantile, 14; Epilepsy, X-linked, With Variable Learning Disabilities And Behaviordisorders; Cortical Dysplasia-focal Epilepsy Syndrome; Lissencephaly 2; Focal Cortical Dysplasia Of Taylor; Epilepsy, Nocturnal Frontal Lobe ARFGEF2, ARX, DCLK2, DCX, EMX2, EOMES, FKRP, FKTN, FLNA, GPR56, KIAA1279, NDE1, PAFAH1B1, PHGDH, PIK3CA, PIK3R2, POMGNT1, POMT1, POMT2, RELN, RTTN, SHH, SIX3, SNAP29, TSC1, TSC2, TUBA1A, TUBA8, WDR62 ALG13, ARHGEF9, ARX, CDKL5, CHD2, FOXG1, GABRA1, GRIN2A, GRIN2B, HCN1, KCNA2, KCNQ2, KCNT1, MAPK10, PCDH19, PLCB1, SCN2A, SCN8A, SLC25A22, SLC35A2, SPTAN1, STXBP1, TBC1D24 ADGRV1, CPA6, GABRD, GABRG2, GPR98, HCN2, MBD5, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN9A CHRNA2, CHRNA4, CHRNB2, CNTNAP2, CPA6, DEPDC5, GRIN2A, KCNT1, LGI1, MTOR, RELN, RELN, SYN1, TSC1, TSC2 Page 2 of 14

3 Infantile Spasms Joubert Syndrome Myoclonic A (Progressive) Myoclonic B Intellectual disability; Seizures; Global developmental delay; Microcephaly; Muscular hypotonia; Cognitive impairment; Epileptic encephalopathy; Infantile onset; Hydrocephalus; Optic atrophy; Ventriculomegaly; Autism; Developmental regression; EEG abnormality; Gastroesophageal reflux; Low-set ears; Poor eye contact; Scoliosis; Agenesis of corpus callosum; Anteverted nares; Bruxism; Cerebral cortical atrophy; Constipation; Cryptorchidism; Dystonia; Feeding difficulties in infancy; Generalized myoclonic seizures; High forehead; Hyperreflexia; Hypertonia; Hypsarrhythmia; Phenotypic variability; Respiratory insufficiency; Severe global developmental delay; Shagreen patch; Spasticity; Status epilepticus; Tremor Encephalocele; Nystagmus; Muscular hypotonia; Cognitive impairment; Hydrocephalus; Low-set posteriorly rotated ears; Oculomotor apraxia; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Seizures; Incoordination; Ptosis; Highly arched eyebrow; Postaxial hand polydactyly; Prominent nasal bridge; Aplasia/Hypoplasia of the cerebellum; Strabismus; Visual impairment; Abnormality of the hypothalamus-pituitary axis; Apnea; Intellectual disability; Iris coloboma; Long face; Narrow forehead; Abnormality of neuronal migration Myoclonus; Seizures; Ataxia; Cerebellar atrophy; Cerebral atrophy; Dementia; Dysarthria; Increased neuronal autofluorescent lipopigment; Intellectual disability; Generalized myoclonic seizures; Curvilinear or fingerprint intracellular accumulation of autofluorescent lipopigment storage material; Progressive; Tremor; Visual loss; Gait disturbance; Rapidly progressive; Abnormality of metabolism/homeostasis; Absence seizures; EEG abnormality; Generalized tonic-clonic seizures; Nystagmus; Progressive visual loss; Visual hallucinations; Areflexia; Developmental regression; Mental deterioration; Psychosis; Scoliosis; Visual impairment Seizures; Global developmental delay; Intellectual disability; Absence seizures; Febrile seizures; Atonic seizures; Epileptic encephalopathy; Dysarthria; Status epilepticus; Ataxia; Cognitive impairment; Developmental regression; Dystonia; EEG abnormality; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Hemiclonic seizures; Hemiparesis; Infantile onset; Migraine; Variable expressivity; Choreoathetosis; Constipation; Episodic ataxia; Focal seizures; Gaze-evoked nystagmus; Microcephaly; Motor delay Congenital Disorder Of Glycosylation, Type IS; Seizures, Benign Familial Infantile, 3; Mental Retardation, X-linked, With Or Without Seizures, Arx-related; Epileptic Encephalopathy, Early Infantile; Mental Retardation, X-linked, Syndromic 13; Lissencephaly 1; Lymphangioleiomyomatosis; Lissencephaly, X-linked, 2; Partington X-linked Mental Retardation Syndrome; Mental Retardation, Autosomal Dominant 20; Lymphangioleiomyomatosis; Lubs X-linked Mental Retardation Syndrome; Tuberous Sclerosis 1 & 2; Methylmalonic Aciduria And Homocystinuria, Cblc Type; Periventricular Heterotopia With Microcephaly, Autosomal Recessive; Pyruvate Dehydrogenase E1-alpha Deficiency; Rett Syndrome; Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations; Corpus Callosum, Agenesis Of, With Abnormal Genitalia; Mosaic Variegated Aneuploidy Syndrome 1; Cognitive Impairment With Or Without Cerebellar Ataxia; Focal Cortical Dysplasia Of Taylor Joubert Syndrome 1-10; Joubert Syndrome With Ocular Defect; Joubert Syndrome With Oculorenal Defect; Joubert Syndrome With Orofaciodigital Defect; Joubert Syndrome With Renal Defect; Bardet- Biedl Syndrome; Coach Syndrome; Leber Congenital Amaurosis; Meckel Syndrome, Type 2-6; Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis; Nephronophthisis 1 & 11; Orofaciodigital Syndrome I; Retinitis Pigmentosa; Senior-Loken Syndrome 1 & 6; Simpson-Golabi- Behmel Syndrome, Type 2 Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy; Ceroid Lipofuscinosis, Neuronal; Epilepsy, Progressive Myoclonic; Myoclonic Epilepsy Of Lafora; Encephalopathy, Familial, With Neuroserpin Inclusion Bodies; Vitamin E, Familial Isolated Deficiency Of; Farber Lipogranulomatosis; Macular Dystrophy With Central Cone Involvement; Myoclonic Epilepsy Of Unverricht And Lundborg Spinocerebellar Ataxia 6; Neurodegeneration Due To Cerebral Folate Transport Deficiency; Generalized Epilepsy With Febrile Seizures Plus, Type 2 & 7; Epilepsy, Familial Adult Myoclonic, 5; Paroxysmal Extreme Pain Disorder; Leukoencephalopathy With Ataxia; Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency; Myoclonic Epilepsy, Infantile; Neuraminidase Deficiency With Betagalactosidase Deficiency; Episodic Ataxia, Type 2 & 5; Indifference To Pain, Congenital, Autosomal Recessive; Dravet Syndrome; Glut1 Deficiency Syndrome 1 & 2; Epileptic Encephalopathy, Childhood-onset & Early Infantile; Migraine, Familial Hemiplegic; Mental Retardation, Autosomal Dominant 5; Dystonia 9; Erythermalgia, Primary ALG13, ARFGEF2, ARX, BUB1B, CDKL5, FOXG1, GABRA1, MAGI2, MECP2, MEF2C, MMACHC, PAFAH1B1, PDHA1, SCN2A, SCN8A, STXBP1, TSC1, TSC2 AHI1, ARL13B, CC2D2A, CEP290, INPP5E, NPHP1, OFD1, RPGRIP1L, TMEM216, TMEM67 ASAH1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, GOSR2, KCNC1, KCTD7, MFSD8, NHLRC1, NHLRC1, PPT1, PRICKLE1, SCARB2, SERPINI1, TTPA BRD2, CACNA1A, CACNB4, CHD2, CLCN2, CNTN2, CTSA, EFHC1, EFHC2, FOLR1, GABRA1, GABRD, LIAS, SCN1A, SCN9A, SLC2A1, SYNGAP1, TBC1D24 Page 3 of 14

4 Neonatal Seizures Treatable Seizures Centronuclear Myopathy Seizures; Intellectual disability; Global developmental delay; Hepatomegaly; Muscular hypotonia; Agenesis of corpus callosum; Sensorineural hearing impairment; Epiphyseal stippling; Failure to thrive; Hypertonia; Infantile onset; Lethargy; Death in infancy; Feeding difficulties in infancy; Generalized tonic-clonic seizures; Hypertelorism; Microcephaly; Myoclonus; Neonatal hypotonia; Visual impairment; Apnea; Cataract; Encephalopathy; Exaggerated startle response; Generalized neonatal hypotonia; Hepatic failure; High palate; Hyperreflexia; Hypoglycemia; Hyporeflexia; Polymicrogyria; Rod-cone dystrophy; Status epilepticus Seizures; Intellectual disability; Global developmental delay; Muscular hypotonia; Ataxia; Dystonia; Autism; Dysarthria; Microcephaly; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Hypertonia; Dysphagia; Failure to thrive; Lethargy; Progressive external ophthalmoplegia; Visual loss; Cerebral atrophy; Developmental regression; Epileptic encephalopathy; Episodic ataxia; Exaggerated startle response; Hepatic failure; Hyperglycinemia; Hypoplasia of the corpus callosum; Myoclonus; Nystagmus; Sensorineural hearing impairment Muscular hypotonia; Motor delay; Generalized muscle weakness; Dilated cardiomyopathy; Facial palsy; Polyhydramnios; Proximal muscle weakness; Distal muscle weakness; External ophthalmoplegia; Decreased fetal movement; Skeletal muscle atrophy; Myopathy; Muscular dystrophy; Sleepy facial expression; Respiratory insufficiency; Thin ribs; Small for gestational age; Distal sensory impairment; Ophthalmoparesis; Flexion contracture; Axonal degeneration; Slow progression; Easy fatigability; Distal amyotrophy Carnitine Palmitoyltransferase Ii Deficiency; Hereditary Leiomyomatosis And Renal Cell Cancer; Hyperekplexia, Hereditary; Epilepsy, Benign Neonatal, 2; Hyperekplexia 2 & 3; Pyridoxamine 5-primephosphate Oxidase Deficiency; Phosphoglycerate Dehydrogenase Deficiency; Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal; Seizures, Benign Familial Neonatal, 1; Neu-laxova Syndrome; Seizures, Benign Familial Infantile, 3; Fumarase Deficiency; Glycine Encephalopathy; Epileptic Encephalopathy, Early Infantile; Hereditary Hyperekplexia; Peroxisome Biogenesis Disorder Type 1,3,4,6,&7 (Zellweger & Non-Zellweger) Argininemia; Benign Familial Infantile Epilepsy; Benign Familial Neonatal Seizures; Biotinidase deficiency; Cerebral creatine deficiency syndrome 1-3; CLOVE syndrome, somatic; Cowden Syndrome; CPT II deficiency; Dihydrolipoamide dehydrogenase deficiency; Dihydropyrimidine dehydrogenase deficiency; Dravet syndrome; Dystonia 9; Epilepsy; Epileptic encephalopathy; Episodic ataxia, type 2; Febrile seizures, familial, 3A; Folate malabsorption, hereditary; GLUT1 deficiency syndrome 1-2; Glycine encephalopathy; Hawkinsinuria; Hyperekplexia; Hyperinsulinismhyperammonemia syndrome; Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome; Hyperphenylalaninemia, BH4-deficient, C; Hypomagnesemia 1, intestinal; Lacticacidemia due to PDX1 deficiency; Lymphangioleiomyomatosis; Lymphangioleiomyomatosis, somatic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1; Migraine; Mitochondrial DNA depletion syndrome (Alpers & MNGIE types); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Molybdenum cofactor deficiency A; Neu-Laxova syndrome 1-2; Neurodegeneration due to cerebral folate transport deficiency; Niemann-pick disease; Phosphoglycerate dehydrogenase deficiency; Progressive external ophthalmoplegia; Pyridoxamine 5'- phosphate oxidase deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Seizures, benign neonatal; Spinocerebellar ataxia 6; Thiamine metabolism dysfunction syndrome 2; Tuberous sclerosis-1-2; Tyrosinemia, type III Neurology Spotlight Panels Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9; Central core disease; Charcot- Marie-Tooth disease, dominant intermediate B; Lethal congenital contracture syndrome 5; {Malignant hyperthermia susceptibility 1}; Minicore myopathy with external ophthalmoplegia; Muscular dystrophy, limb-girdle, type 2J; Myopathy, centronuclear; Myopathy, centronuclear, 4; Myopathy, early-onset, with fatal cardiomyopathy; Myopathy, proximal, with early respiratory muscle involvement; Myotubular myopathy, X-linked; Tibial muscular dystrophy, tardive ALDH7A1, AMT, AMT, ARHGEF9, BRAT1, CPT2, FH, GCSH, GCSH, GLDC, GLDC, GLRA1, GLRB, GPHN, GPHN, KCNQ2, KCNQ3, PEX1, PEX10, PEX12, PEX26, PEX6, PHGDH, PNPO, SCN2A, SLC6A5 ALDH7A1, AMT, ARG1, ARHGEF9, BTD, CACNA1A, CHRNA2, CHRNA4, CHRNB2, CPT2, CSTB, DLD, DPYD, EPM2A, FOLR1, GAMT, GATM, GCSH, GLDC, GLRA1, GLRB, GLUD1, HPD, KCNQ2, KCNQ3, KCNT1, MOCS1, NHLRC1, NPC1, NPC2, PDHA1, PDHX, PHGDH, PIK3CA, PIK3R2, PNPO, POLG, PSAT1, QDPR, SCN1A, SCN2A, SCN8A, SLC19A3, SLC25A15, SLC2A1, SLC46A1, SLC6A5, SLC6A8, TRPM6, TSC1, TSC2 BIN1, CCDC78, DNM2, MTM1, RYR1, TTN Page 4 of 14

5 Congenital Muscular Dystrophy Congenital Myasthenia Congenital Myopathy Elevated serum creatine phosphokinase; Cerebellar hypoplasia; Congenital muscular dystrophy; Intellectual disability; Neonatal hypotonia; Motor delay; Muscular dystrophy; Muscular hypotonia; Proximal muscle weakness; Global developmental delay; Microcephaly; Hydrocephalus; Seizures; Respiratory insufficiency due to muscle weakness; Flexion contracture; Spinal rigidity; Torticollis; Hypoplasia of the brainstem; Scoliosis; Failure to thrive; Pachygyria; Dilated cardiomyopathy; Feeding difficulties; Myopathy; Respiratory insufficiency; Feeding difficulties in infancy; Hyporeflexia; Scapular winging; Limb-girdle muscular dystrophy; Arrhythmia Ptosis; Easy fatigability; Feeding difficulties; Dysphagia; Muscular hypotonia; Ophthalmoparesis; Neonatal hypotonia; Muscle weakness; Polyhydramnios; Ophthalmoplegia; Neck muscle weakness; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Cerebellar hypoplasia; Intrauterine growth retardation; Motor delay; Fatigable weakness; Fetal akinesia sequence; Microcephaly; Seizures; Global developmental delay; Abnormal blistering of the skin; Exercise intolerance; Generalized muscle weakness; Pulmonary hypoplasia; Hydrocephalus; Arthrogryposis multiplex congenita; Weak cry; Multiple pterygia; Amyoplasia; Intellectual disability Motor delay; Scoliosis; Proximal muscle weakness; Neonatal hypotonia; Flexion contracture; Myopathy; Dilated cardiomyopathy; Respiratory insufficiency due to muscle weakness; Failure to thrive; Hyporeflexia; Respiratory insufficiency; Facial palsy; Generalized muscle weakness; Muscular hypotonia; Feeding difficulties; Spinal rigidity; Torticollis; Decreased fetal movement; Muscular dystrophy; Slow progression; Polyhydramnios; Skeletal muscle atrophy; Hypertrophic cardiomyopathy; Neck muscle weakness; Congenital hip dislocation; Elevated serum creatine phosphokinase; Ophthalmoplegia; Distal muscle weakness Bethlem myopathy 1; Cardiomyopathy, dilated, 1A & 1X; Charcot-Marie-Tooth disease, type 2B1; Congenital disorder of glycosylation, type Ie & 1u; Congenital disorder of glycosylation, type Iu; Hearthand syndrome, Slovenian type; Hutchinson-Gilford progeria; Lipodystrophy, familial partial, type 2; Malouf syndrome; Mandibuloacral dysplasia; Muscle-Eye-Brain Disease; Muscular dystrophydystroglycanopathy (congenital with brain and eye anomalies, type A, 1-5,7-9,12-14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1-3,6,14; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4; Muscular dystrophydystroglycanopathy (limb-girdle), type C, 1-5,7,9,12,14; Muscular dystrophy, congenital; Muscular dystrophy, limb-girdle, type 2S; Muscular dystrophy, rigid spine, 1; Myopathy, congenital, with fibertype disproportion; Myopathy, X-linked, with postural muscle atrophy;?myosclerosis, congenital; Reducing body myopathy, X-linked 1a & 1b; Restrictive dermopathy, lethal; Scapuloperoneal myopathy, X-linked dominant; Ullrich congenital muscular dystrophy 1; Walker-Warburg Syndrome Cenani-Lenz syndactyly syndrome; Ceroid lipofuscinosis, neuronal, 11; Congenital disorder of glycosylation, type Ij; Epidermolysis bullosa simplex with muscular dystrophy;?epidermolysis bullosa simplex with nail dystrophy; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex, Ogna type;?fetal akinesia deformation sequence; Fetal akinesia deformation sequence; Frontotemporal lobar degeneration with ubiquitin-positive inclusions; Hyperkalemic periodic paralysis, type 2; Hypokalemic periodic paralysis, type 2; Multiple pterygium syndrome, lethal type; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophydystroglycanopathy (limb-girdle), type C, 14; Muscular dystrophy, limb-girdle, type 2Q; Myasthenia, congenital, 12, with tubular aggregates; Myasthenic syndrome, congenital, 1A,B,2A,C,3A-C,4A-C,5-7,9,10,16,17,19; Nephrotic syndrome, type 5, with or without ocular abnormalities; Neuronopathy, distal hereditary motor, type VIIA; Paramyotonia congenita; Pierson syndrome; Sclerosteosis 2 Arthrogryposis multiplex congenita, distal, type 1; Arthrogryposis, distal, type 2B; Bethlem myopathy 1; CAP myopathy 1; Cardiomyopathy, dilated, 1G & 1II; Cardiomyopathy, familial hypertrophic, 9; Cardiomyopathy, hypertrophic, 1; Cataract 16, multiple types; Central core disease; Charcot-Marie- Tooth disease, dominant intermediate B; Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; Familial Isolated Dilated Cardiomyopathy; Laing distal myopathy; Left ventricular noncompaction 5; Lethal congenital contracture syndrome 5; Minicore myopathy with external ophthalmoplegia; Muscular dystrophy, limb-girdle, type 2J; Muscular dystrophy, rigid spine, 1; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant; Myopathy, centronuclear; Myopathy, congenital; Myopathy, early-onset, with fatal cardiomyopathy; Myopathy, myofibrillar; Myopathy, myosin storage; Myopathy, proximal, with early respiratory muscle involvement; Myopathy, X-linked, with postural muscle atrophy;?myosclerosis, congenital; Myotubular myopathy, X-linked; Native American myopathy; Nemaline myopathy 2,4,5-7,9,10; Reducing body myopathy, X-linked 1a & 1b; Scapuloperoneal myopathy, X-linked dominant; Scapuloperoneal syndrome, myopathic type; Tibial muscular dystrophy, tardive; Ullrich congenital muscular dystrophy 1 B3GALNT2, B4GAT1, CHKB, COL6A1, COL6A2, COL6A3, DAG1, DPM1, DPM2, FHL1, FKRP, FKTN, GMPPB, ISPD, ITGA7, LAMA2, LARGE1, LMNA, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SELENON, TRAPPC11 ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, GRN, LAMB2, LRP4, MUSK, PLEC, RAPSN, SCN4A, SLC5A7, SYT2 ACTA1, BIN1, CCDC78, CFL2, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB, DNM2, FHL1, FKBP14, KBTBD13, KLHL40, KLHL41, LMOD3, MEGF10, MTM1, MYH7, NEB, RYR1, SELENON, STAC3, TNNT1, TPM2, TPM3, TTN Page 5 of 14

6 Distal Myopathy Dystonia Hereditary Spastic Paraplegia Elevated serum creatine phosphokinase; Muscular dystrophy; Proximal muscle weakness; Distal muscle weakness; Myopathy; Slow progression; Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Facial palsy; Hyporeflexia; Flexion contracture; Respiratory insufficiency due to muscle weakness; Congestive heart failure; Arrhythmia; Progressive; Abnormality of neutrophils; Calf muscle hypertrophy; Lipoatrophy; Sensorineural hearing impairment; Waddling gait; Neck muscle weakness; Dysphagia; Shoulder girdle muscle weakness; Scapuloperoneal weakness; Palmoplantar keratoderma; Myalgia; Scoliosis; Ventricular arrhythmia Dystonia; Dysarthria; Tremor; Dysphagia; Global developmental delay; Dysphonia; Limb dystonia; Myoclonus; Torticollis; Writer's cramp; Blepharospasm; Choreoathetosis; Parkinsonism; Seizures; Torsion dystonia; Anxiety; Ataxia; Depression; Gait ataxia; Muscular hypotonia of the trunk; Paroxysmal dystonia; Rigidity Spastic paraplegia; Hyperreflexia; Dysarthria; Lower limb spasticity; Lower limb muscle weakness; Spastic gait; Intellectual disability; Global developmental delay; Pes cavus; Seizures; Nystagmus; Microcephaly; Optic atrophy; Spasticity; Hypoplasia of the corpus callosum; Short stature; Distal sensory impairment; Impaired vibration sensation in the lower limbs; Intellectual disability, severe; Ataxia; Neonatal hypotonia; Hydrocephalus; Peripheral axonal neuropathy; Dysphagia; Motor delay; Cerebellar atrophy; Urinary incontinence; Muscular hypotonia; Intrauterine growth retardation; Hyporeflexia; Distal amyotrophy; Cerebral cortical atrophy Amyotrophic lateral sclerosis 14,21; Cardiomyopathy, dilated, 1G,HH,I,II; Cardiomyopathy, familial hypertrophic; Cardiomyopathy, familial restrictive 5; Cardiomyopathy, hypertrophic, 1; Cataract 16, multiple types; Charcot-Marie-Tooth disease, dominant intermediate B; Charcot-Marie-Tooth disease, type 2Y; Creatine phosphokinase, elevated serum; Familial Isolated Dilated Cardiomyopathy; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1; Laing distal myopathy; Left ventricular noncompaction 3; Left ventricular noncompaction 5; Lethal congenital contracture syndrome 5; Long QT syndrome 9; Miyoshi muscular dystrophy 1; Miyoshi muscular dystrophy 3; Muscular dystrophy, limb-girdle, type 1A,E,2B,J,L,R,IC; Myopathy, centronuclear; Myopathy, distal, ; Myopathy, early-onset, with fatal cardiomyopathy; Myopathy, myofibrillar, 1-6; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related; Myopathy, myosin storage; Myopathy, proximal, with early respiratory muscle involvement; Myopathy, spheroid body; Myopathy, X-linked, with postural muscle atrophy; Nemaline myopathy 2, autosomal recessive; Nonaka myopathy; Reducing body myopathy, X-linked 1a & 1b; Rippling muscle disease; Scapuloperoneal myopathy, X-linked dominant; Scapuloperoneal syndrome; Sialuria; Tibial muscular dystrophy, tardive; Welander distal myopathy Alternating hemiplegia of childhood 2; CAPOS syndrome; Convulsions, familial infantile, with paroxysmal choreoathetosis; Dystonia; GLUT1 deficiency syndrome; Hyperphenylalaninemia, BH4- deficient, B; Leukodystrophy, hypomyelinating, 6; Parkinson disease, juvenile, type 2; Parkinsonismdystonia, infantile; Paroxysmal nonkinesigenic dyskinesia; Segawa syndrome, recessive Allan-Herndon-Dudley syndrome; Amyotrophic lateral sclerosis 2, juvenile; Bile acid synthesis defect, congenital, 3; Boucher-Neuhauser syndrome; Combined oxidative phosphorylation deficiency 7; Congenital cataracts, hearing loss, and neurodegeneration; Corpus callosum, partial agenesis of; Cutis laxa, autosomal recessive, type IIIA; Encephalopathy, progressive, with or without lipodystrophy; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction;?laurence-moon syndrome; Leukodystrophy, hypomyelinating, 4; Lipodystrophy, congenital generalized, type 2; Martsolf syndrome; MASA syndrome; Mast syndrome; Mental retardation, autosomal dominant 9,42,Claes- Jensen type;?multiple mitochondrial dysfunctions syndrome 3; Neurodegeneration with brain iron accumulation 4;?Neuronopathy, distal hereditary motor, type VB; Neuropathy, distal hereditary motor, type VA; Neuropathy, hereditary sensory, type ID,IIC; Oliver-McFarlane syndrome; Pelizaeus- Merzbacher disease; Peroxisomal acyl-coa oxidase deficiency; Pontocerebellar hypoplasia, type 1B,9; Primary lateral sclerosis, juvenile; Ritscher-Schinzel syndrome 1; Silver spastic paraplegia syndrome; Spastic ataxia 1,2, Charlevoix-Saguenay type; Spastic paralysis, infantile onset ascending; Spastic paraplegia 2-8,10-13,15,18,26,28,30,31,33,35,39,42,45-56,61,62,64,73-75; Troyer syndrome; Warburg micro syndrome 2 ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, NEB, TIA1, TTN, VCP ANO3, ATP1A3, CACNA1B, GCH1, GNAL, HPCA, KCTD17, PARK2, PNKD, PRKRA, PRRT2, SGCE, SLC2A1, SLC6A3, SPR, TH, THAP1, TOR1A, TUBB4A ABCD1, ACOX1, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ATL1, B4GALNT1, BSCL2, C12orf65, C19orf12, CCT5, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, GBA2, HSPD1, IBA57, KDM5C, KIF1A, KIF1C, KIF5A, L1CAM, MAG, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, RTN2, SACS, SLC16A2, SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG7, TECPR2, VAMP1, VPS37A, WASHC5, ZFYVE26, ZFYVE27 Page 6 of 14

7 Limb-Girdle Muscular Dystrophy Migraine Myofibrillar Myopathy Myopathy with Contractures Elevated serum creatine phosphokinase; Muscular dystrophy; Dilated cardiomyopathy; Proximal muscle weakness; Calf muscle hypertrophy; Congenital muscular dystrophy; Respiratory insufficiency due to muscle weakness; Intellectual disability; Distal muscle weakness; Motor delay; Myopathy; Cerebellar hypoplasia; Neonatal hypotonia; Flexion contracture; Spinal rigidity; Shoulder girdle muscle weakness; Torticollis; Difficulty climbing stairs; Scapular winging; Arrhythmia; Hyporeflexia; Muscular hypotonia; Hypoplasia of the brainstem; Difficulty walking; Slow progression; Progressive; Pachygyria; Hydrocephalus; Facial palsy; Short stature Seizures; Dysarthria; Global developmental delay; Dystonia; Migraine; Progressive external ophthalmoplegia; Ataxia; Choreoathetosis; Migraine with aura; Nystagmus; Areflexia; Developmental regression; Dysphagia; Episodic ataxia; Episodic quadriplegia; Hemiparesis; Hemiplegia; Hypoglycorrhachia; Muscular hypotonia; Paroxysmal dystonia; Pes cavus; Sensorineural hearing impairment; Stroke; Visual loss Elevated serum creatine phosphokinase; Myopathy; Slow progression; Flexion contracture; Hypertrophic cardiomyopathy; Proximal muscle weakness; Muscular dystrophy; Hyporeflexia; Lipoatrophy; Abnormality of neutrophils; Palmoplantar keratoderma; Sensorineural hearing impairment; Hyporeflexia of lower limbs; Waddling gait; Dilated cardiomyopathy; Distal muscle weakness; Respiratory insufficiency due to muscle weakness Neonatal hypotonia; Torticollis; Spinal rigidity; Failure to thrive; Flexion contracture; Motor delay; Respiratory insufficiency due to muscle weakness; Congenital muscular dystrophy; Feeding difficulties in infancy; Myopathy; Increased laxity of fingers; Decreased fetal movement; Scoliosis; Short stature; Follicular hyperkeratosis; Proximal muscle weakness; Hip dislocation; Increased laxity of ankles Bardet-Biedl syndrome 11; Bethlem myopathy 1; Cardiomyopathy, dilated, 1A,G,I,L,X; Cardiomyopathy, familial hypertrophic; Cardiomyopathy, hypertrophic, 25; Charcot-Marie-Tooth disease, type 2B1; Creatine phosphokinase, elevated serum; Emery-Dreifuss muscular dystrophy 2, AD; Epidermolysis bullosa simplex; Familial Isolated Dilated Cardiomyopathy; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford progeria; Lipodystrophy, familial partial, type 2; Long QT syndrome 9; Malouf syndrome; Mandibuloacral dysplasia; Miyoshi muscular dystrophy 1,3; Muscle-Eye-Brain Disease; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1,2,4,5,7,9,14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1,2,14; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1,2,4,5,7,9,14; Muscular dystrophy, congenital; Muscular dystrophy, limb-girdle, type 1A,E-G, 2A-H,J,L,Q,R,W, IC; Myopathy, distal; Myopathy, earlyonset, with fatal cardiomyopathy; Myopathy, myofibrillar, 1,3; Myopathy, proximal, with early respiratory muscle involvement; Myopathy, spheroid body; Myopathy, X-linked, with postural muscle atrophy;?myosclerosis, congenital; Reducing body myopathy, X-linked 1a & 1b; Restrictive dermopathy, lethal; Rippling muscle disease; Scapuloperoneal myopathy, X-linked dominant; Scapuloperoneal syndrome, neurogenic, Kaeser type; Tibial muscular dystrophy, tardive; Ullrich congenital muscular dystrophy 1; Walker-Warburg Syndrome Aicardi-Goutieres syndrome; Alternating hemiplegia of childhood; CAPOS syndrome; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Dravet syndrome; Dystonia 9, 12; Episodic ataxia; Familial Or Sporadic Hemiplegic Migraine; Febrile seizures, familial, 3A; GLUT1 deficiency syndrome 1, 2; Migraine, familial hemiplegic, 1-3; Mitochondrial DNA depletion syndrome (Alpers & MNGIE types); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Periodic fever, menstrual cycle dependent; Progressive external ophthalmoplegia; Spinocerebellar ataxia 6; Vasculopathy, retinal, with cerebral leukodystrophy Cardiomyopathy, dilated, 1HH,1I,1II; Cardiomyopathy, familial restrictive 5; Cataract 16, multiple types; Familial Isolated Dilated Cardiomyopathy; Left ventricular noncompaction 3; Muscular dystrophy, limb-girdle, type 1A,E,2R; Myopathy, distal, 4; Myopathy, myofibrillar, 1-5; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related; Myopathy, spheroid body; Myopathy, X-linked, with postural muscle atrophy; Reducing body myopathy, X-linked 1a & 1b; Scapuloperoneal myopathy, X-linked dominant; Scapuloperoneal syndrome, neurogenic, Kaeser type Bethlem myopathy 1;?Muscular dystrophy, limb-girdle, type 2Y;?Myosclerosis, congenital; Ullrich congenital muscular dystrophy 1 ANO5, CAPN3, CAV3, COL6A1, COL6A2, COL6A3, DAG1, DES, DNAJB6, DYSF, FHL1, FKRP, FKTN, GMPPB, HNRNPDL, ISPD, LIMS2, LMNA, MYOT, PLEC, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRIM32, TTN ATP1A2, ATP1A3, CACNA1A, CSNK1D, HTR1A, MR1, NOTCH3, POLG, PRRT2, SCN1A, SLC2A1, TREX1 BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT COL12A1, COL6A1, COL6A2, COL6A3, TOR1AIP1 Page 7 of 14

8 Neuropathi c Pain Dysautonomia; Seizures; Abdominal pain; Distal sensory impairment; Focal seizures; Hyperhidrosis; Intellectual disability; Motor delay; Myalgia; Pain; Pain insensitivity; Pes cavus Charcot-Marie-Tooth disease; Episodic pain syndrome; Erythromelalgia; Fabry disease, cardiac variant; Febrile seizures, familial, 3B; Hereditary Sensory And Autonomic Neuropathy Type 2; Insensitivity to pain, congenital, with anhidrosis; Mental retardation, autosomal dominant 13; Neuropathy, hereditary sensory and autonomic, type VII; Porphyria, acute intermittent, nonerythroid variant; Small fiber neuropathy; Spinal muscular atrophy, lower extremity-predominant 1, AD COX6A1, DYNC1H1, GLA, HMBS, MARS, NTRK1, SCN10A, SCN11A, SCN9A, TRPA1 Periodic Paralysis Rhabdomyolysis Tuberous Sclerosis Complex Episodic flaccid weakness; Hypokalemia; Myalgia; Myopathy; Palpitations; Paresthesia; Abdominal pain; Fatigable weakness; Generalized muscle weakness; Handgrip myotonia; Hyperkalemia; Hypokalemic alkalosis; Muscle cramps; Muscle stiffness; Muscle weakness; Myotonia; Paradoxical myotonia; Paralysis; Percussion myotonia; Periodic hyperkalemic paralysis; Periodic paralysis; Polydipsia; Polyuria; Prolonged QT interval; Seizures; Shortened QT interval; Syncope; Tachycardia Elevated serum creatine phosphokinase; Muscle weakness; Rhabdomyolysis; Myalgia; Seizures; Muscular hypotonia; Exercise intolerance; Myoglobinuria; Myopathy; Exerciseinduced muscle cramps; Muscular dystrophy; Dilated cardiomyopathy; Global developmental delay; Hepatomegaly; Calf muscle hypertrophy; Hypoglycemia; Hyporeflexia; Intellectual disability; Proximal muscle weakness; Distal muscle weakness; Muscle stiffness; Skeletal muscle atrophy Adenoma sebaceum; Astrocytoma; Autism; Cardiac rhabdomyoma; Infantile spasms; Intellectual disability; Pulmonary lymphangiomyomatosis; Renal angiomyolipoma; Shagreen patch; Subependymal nodules; Subungual fibromas; Cafe-au-lait spot; Hypomelanotic macule; Renal cell carcinoma Andersen syndrome; Gitelman syndrome; Hyperkalemic periodic paralysis, type 2; Hypokalemic periodic paralysis; Myasthenic syndrome, congenital, 16; Paramyotonia congenita; Short QT syndrome 3 Acyl-CoA dehydrogenase, deficiency of; Amyloidosis, hereditary, transthyretin-related; Amyotrophy, hereditary neuralgic; Becker muscular dystrophy; Cardiomyopathy; Carnitine-acylcarnitine translocase deficiency; Carpal tunnel syndrome, familial; Central core disease; Charcot-Marie-Tooth disease, dominant intermediate B; Congenital disorder of glycosylation, type It; CPT II deficiency; Creatine phosphokinase, elevated serum; Danon disease; Duchenne muscular dystrophy; Glutaric acidemia IIA-C; Glycogen storage disease II,VII,X-XIII; Gnathodiaphyseal dysplasia; HELLP syndrome, maternal, of pregnancy; Hyperkalemic periodic paralysis, type 2; Hypokalemic periodic paralysis, type 1-2; Lethal congenital contracture syndrome 5; Long QT syndrome 9; McArdle disease; Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration; Minicore myopathy with external ophthalmoplegia; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Miyoshi muscular dystrophy 1,3; Muscle-Eye-Brain Disease; Muscular dystrophy, congenital, megaconial type; Muscular dystrophy, limb-girdle; Muscular dystrophy-dystroglycanopathy; Myasthenic syndrome, congenital, 16; Myoglobinuria, acute recurrent, autosomal recessive; Myopathy; Myotonia congenita; Paramyotonia congenita; Phosphoglycerate kinase 1 deficiency; Portal hypertension, noncirrhotic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; Rippling muscle disease; Thomsen And Becker Disease; Trifunctional protein deficiency; VLCAD deficiency; Walker-Warburg Syndrome Lymphangioleiomyomatosis; Tuberous sclerosis-1; Tuberous sclerosis-2 CACNA1S, KCNE3, KCNJ18, KCNJ2, SCN4A, SLC12A3 ACADM, ACADS, ACADVL, ALDOA, AMPD1, ANO5, CACNA1S, CAV3, CHKB, CLCN1, CPT2, DGUOK, DMD, DNM2, DYSF, ENO3, ETFA, ETFB, ETFDH, FKRP, GAA, HADHA, HADHB, ISCU, LAMP2, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PYGM, RYR1, SCN4A, SEPT9, SLC25A20, TANGO2, TTN, TTR TSC1, TSC2 Page 8 of 14

9 Congenital Disorders of Glycosylation Holopres-encephaly Lissencephaly Microcephaly Muscular hypotonia; Seizures; Global developmental delay; Microcephaly; Type I transferrin isoform profile; Intellectual disability; Failure to thrive; Hepatomegaly; Cognitive impairment; Elevated hepatic transaminases; Nystagmus; Reduced antithrombin III activity; Flexion contracture; Optic atrophy; Feeding difficulties; Hepatic failure; Infantile onset; Micrognathia; Strabismus; Ataxia; Congenital onset; Elevated serum creatine phosphokinase; Cerebral atrophy; Depressed nasal bridge; Hyperreflexia Hypotelorism; Holoprosencephaly; Seizures; Global developmental delay; Aplasia/Hypoplasia of the corpus callosum; Cognitive impairment; Microcephaly; Microphthalmos; Strabismus; Variable expressivity; Incomplete penetrance; Intellectual disability; Midface retrusion; Single median maxillary incisor; Absent nasal septal cartilage; Agenesis of corpus callosum; Anophthalmia; Cleft palate; Cleft upper lip; Cryptorchidism; Cyclopia; Depressed nasal bridge; Hydrocephalus; Hypertelorism; Iris coloboma Intellectual disability; Microcephaly; Seizures; Cognitive impairment; Muscular hypotonia; Cataract; Elevated serum creatine phosphokinase; Hydrocephalus; Myopia; Pachygyria; Ventriculomegaly; Cerebellar hypoplasia; Agenesis of corpus callosum; Aplasia/Hypoplasia of the corpus callosum; Cleft palate; Cryptorchidism; Hypertonia; Hypoplasia of the brainstem; Motor delay; Optic atrophy; Aplasia/Hypoplasia of the cerebellum; Cerebellar dysplasia; Encephalocele; Flexion contracture; Glaucoma Microcephaly; Intellectual disability; Seizures; Cognitive impairment; Scoliosis; Short stature; Micrognathia; Muscular hypotonia; Global developmental delay; Intrauterine growth retardation; Neurological speech impairment; Cryptorchidism; Sensorineural hearing impairment; Aplasia/Hypoplasia of the corpus callosum; Clinodactyly of the 5th finger; Constipation; Downslanted palpebral fissures; Gastroesophageal reflux; Hypertonia; Wide nasal bridge; Abnormality of the hip bone; Anteverted nares; Autism; Brachydactyly syndrome; Cerebral cortical atrophy Developmental Delay Spotlight Panels Congenital Disorder of Glycosylation, Type I A-F,I-K,M-U,W-Y; Congenital Disorder of Glycosylation, Type II A-D,F-M; Alacrima, Achalasia, And Mental Retardation Syndrome; Alg12-Cdg; Alg8-Cdg; Alg9- Cdg; Cog7-Cdg; Familial Isolated Dilated Cardiomyopathy; Kahrizi Syndrome; Mental Retardation, Autosomal Recessive 15; Myasthenic Syndrome, Congenital, With Tubular Aggregates 2 & 3; Shaheen Syndrome; X-Linked Non-Syndromic Intellectual Disability Holoprosencephaly 2-5, 7, 9 & 11; Basal Cell Carcinoma, Susceptibility To, 1; Basal Cell Nevus Syndrome; Microphthalmia, Isolated, With Coloboma 5; Monosomy 9q22.3; Ocular Coloboma; Pallister-Hall Syndrome 2; Schizencephaly; Solitary Median Maxillary Central Incisor Lissencephaly 1-3; Lissencephaly, X-Linked, 1 & 2; Corpus Callosum, Agenesis Of, With Abnormal Genitalia; Epileptic Encephalopathy, Early Infantile, 1; Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related; Muscle-Eye-Brain Disease; Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 & 2; Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation),Type B, 1 & 2; Muscular Dystrophy-Dystroglycanopathy (Limb- Girdle), Type C, 1 & 2; Partington X-Linked Mental Retardation Syndrome; Walker-Warburg Syndrome; X-Linked Non-Syndromic Intellectual Disability Microcephaly 1-3, 5-7, 9 & Amish Type; Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii; Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia; Mental Retardation, X-Linked, Syndromic 13; Mental Retardation, X-Linked, Syndromic, Christianson Type; Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1; 14q12 Microdeletion Syndrome; Alpha- Thalassemia Myelodysplasia Syndrome; Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; Angelman Syndrome; Atypical Rett Syndrome; Cornelia De Lange Syndrome; Cutaneous Telangiectasia And Cancer Syndrome, Familial; Encephalopathy, Neonatal Severe; Epileptic Encephalopathy, Early Infantile, 2; Fg Syndrome 4; Lubs X-Linked Mental Retardation Syndrome; Mowat-Wilson Syndrome; Pitt-Hopkins Syndrome; Rett Syndrome; Seckel Syndrome 1, 4 & 5; Smith- Lemli-Opitz Syndrome; Thiamine Metabolism Dysfunction Syndrome 4; Warburg Micro Syndrome 1; X-Linked Non-Syndromic Intellectual Disability ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1, DPM1, DPM2, DPM3, GMPPA, MAN1B1, MGAT2, MOGS, MPDU1, MPI, PGM1, PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165 CDON, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2 ARX, DCX, PAFAH1B1, POMT1, POMT2, RELN, TUBA1A, YWHAE ASPM, ATR, ATRX, CASK, CDK5RAP2, CDKL5, CENPJ, CEP152, DHCR7, FOXG1, MCPH1, MECP2, NIPBL, PCNT, RAB3GAP1, SLC25A19, SLC9A6, STIL, TCF4, UBE3A, WDR62, ZEB2 Page 9 of 14

10 NCL / Battens Disease Noonan Syndrome / RASopathies Short Stature Urea Cycle Vanishing White Matter Seizures; Ataxia; Cerebellar atrophy; Cerebral atrophy; Increased neuronal autofluorescent lipopigment; Curvilinear intracellular accumulation of autofluorescent lipopigment storage material; Intellectual disability; Myoclonus; Fingerprint intracellular accumulation of autofluorescent lipopigment storage material; Dysarthria; EEG abnormality; Progressive visual loss; Dementia; Generalized myoclonic seizures; Optic atrophy; Rapidly progressive; Mental deterioration; Parkinsonism; Retinal degeneration; Visual impairment; Visual loss; Abnormal nervous system electrophysiology; Adult onset; Blindness; Clumsiness; Delayed speech and language development Short stature; Hypertelorism; Webbed neck; Ptosis; Cryptorchidism; Low-set posteriorly rotated ears; Hypertrophic cardiomyopathy; Pectus excavatum; Scoliosis; Cognitive impairment; Downslanted palpebral fissures; Abnormality of the pulmonary artery; Muscular hypotonia; Short neck; Epicanthus; Melanocytic nevus; Low posterior hairline; Strabismus; Nystagmus; Sensorineural hearing impairment; Triangular face; Cafe-au-lait spot; Cubitus valgus; Depressed nasal bridge; Hydrocephalus; Lymphedema Short stature; Ptosis; Cryptorchidism; Hypertelorism; Low-set posteriorly rotated ears; Webbed neck; Pectus excavatum; Scoliosis; Sensorineural hearing impairment; Downslanted palpebral fissures; Short neck; Strabismus; Hypertrophic cardiomyopathy; Low posterior hairline; Micrognathia; Muscular hypotonia; Abnormality of the pulmonary artery; Anteverted nares; Cleft palate; Cognitive impairment; Epicanthus; Nystagmus; Triangular face; Arrhythmia; Clinodactyly of the 5th finger Hyperammonemia; Seizures; Vomiting; Coma; Failure to thrive; Global developmental delay; Intellectual disability; Irritability; Lethargy; Aminoaciduria; Cerebral edema; Episodic ammonia intoxication; Protein avoidance; Respiratory alkalosis; Ataxia; Cognitive impairment; Hyperglutaminemia; Hypoargininemia; Oroticaciduria; Stroke; EEG abnormality; Hepatomegaly; Low plasma citrulline; Neonatal onset; Abnormal hair quantity Blindness; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased serum progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Muscular hypotonia; Optic atrophy; Personality changes; Premature ovarian failure; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait Ceroid Lipofuscinosis, Neuronal, 1-8 & 10-13; Epilepsy, Progressive Myoclonic 3; Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related; Kufor-Rakeb Syndrome; Macular Dystrophy With Central Cone Involvement; Spinocerebellar Ataxia, Autosomal Recessive 7 Noonan Syndrome 1-7; Noonan Syndrome-Like Disorder; Neurofibromatosis, Familial Spinal; Neurofibromatosis, Type I; Neurofibromatosis-Noonan Syndrome; Cardiofaciocutaneous Syndrome 1-2; Costello Syndrome; Legius Syndrome; Leopard Syndrome 1-3; Bladder Cancer; Breast Cancer; Cardiomyopathy, Dilated, 1nn; Colorectal Cancer; Familial Isolated Dilated Cardiomyopathy; Fibromatosis, Gingival, 1; Gastric Cancer, Hereditary Diffuse; Hashimoto-Pritzker Syndrome; Hereditary Gingival Fibromatosis; Hereditary Nonpolyposis Colon Cancer; Juvenile Myelomonocytic Leukemia; Lung Canceralveolar Cell Carcinoma, Included; Melanocytic Nevus Syndrome, Congenital; Melanosis, Neurocutaneous; Metachondromatosis; Nevus, Keratinocytic, Nonepidermolytic; Pancreatic Cancer; Ras-Associated Autoimmune Leukoproliferative Disorder; Schimmelpenning- Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Watson Syndrome Aarskog-Scott Syndrome; Bladder Cancer; Breast Cancer; Cardiofaciocutaneous Syndrome; Cardiomyopathy, Dilated, 1nn; Colorectal Cancer; Cornelia De Lange Syndrome 1 & 2; Familial Isolated Dilated Cardiomyopathy; Fibromatosis, Gingival, 1; Gastric Cancer, Hereditary Diffuse; Hereditary Gingival Fibromatosis; Hereditary Nonpolyposis Colon Cancer; Juvenile Myelomonocytic Leukemia; Leopard Syndrome 1 & 2; Lung Canceralveolar Cell Carcinoma, Included; Metachondromatosis; Noonan Syndrome 1, 3-5; Pancreatic Cancer; Rubinstein-Taybi Syndrome 1 & 2; Schimmelpenning-Feuerstein-Mims Syndrome; Smith-Lemli-Opitz Syndrome Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To; Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To; Citrullinemia, Classic; Argininosuccinic Aciduria; Argininemia; N-Acetylglutamate Synthase Deficiency Leukoencephalopathy With Vanishing White Matter Page 10 of 14 CLN5, CLN6, CLN3, CTSD, PPT1, TPP1, CLN8, MFSD8, CTSF, DNAJC5, ATP13A2, GRN, KCTD7 BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1 CREBBP, DHCR7, EP300, FGD1, KRAS, NIPBL, PTPN11, RAF1, SMC1A, SOS1 CPS1, OTC, ASS1, ASL, ARG1, NAGS EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5