PMC Cerebral Palsy Spectrum Disorders Panel

Associated Conditions
- GABA-transaminase deficiency
- X-linked adrenoleukodystrophy (X-ALD)
- Medium chain acyl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency
- Beta-ketothiolase deficiency
- Cone-rod dystrophy and white matter disease
- Acyl-CoA oxidase deficiency
- ACTB-related conditions:
- Baraitser-Winter syndrome
- Juvenile onset dystonia
- Aicardi Goutieres syndrome
- ADCY5-related dyskinesia
- Spastic quadriplegic cerebral palsy
- Helsmoortel-Van der Aa Syndrome (HVDAS)
- Adenylosuccinate lyase deficiency (ADSL)
- Spinocerebellar ataxia 28 (SCA28), Spastic ataxia 5
- Aicardi-Goutieres syndrome
- Xia-Gibbs syndrome (XGS)
- Megalencephaly,-polymicrogyria-hydrocephalus 2 (MPHH2)
- ALDH18A1-related conditions:
- Delta-pyrroline-5-carboxylate synthetase (P5CS) deficiency,
- Cutis laxa (ADCL3 and ARCL3A),
- Spastic paraplegia (SPG9A and SPG9B)
- Sjögren-Larsson syndrome
- Succinic semialdehyde dehydrogenase deficiency (SSADH)
- Atypical cerebral palsy
- ALG13-congenital disorder of glycosylation (CDG-Is)
- ALG3-congenital disorder of glycosylation (CDG-Id)
- ALS2-related conditions:
- Infantile onset-ascending hereditary spastic paraplegia (IAHSP)
- Juvenile primary lateral sclerosis (JPLS)
- Juvenile amyotrophic lateral sclerosis 2 (ALS2)
- Alpha-methylacyl-CoA racemase deficiency (AMACR)
- Pontocerebellar hypoplasia, type 9 (PCH9); Hereditary spastic paraplegia 63 (SPG63)
- Glycine encephalopathy
- Dystonia 24 (DYT24)
- Hereditary spastic paraplegia 47 (HSP47/SPG51)
- Hereditary spastic paraplegia 51 (HSP51/SPG51)
- Hereditary spastic paraplegia 50 (HSP50/SPG50); Neurodegeneration with brain iron accumulation
- Hereditary spastic paraplegia 52 (HSP52/SPG52)
- Hereditary spastic paraplegia 48 (HSP48/SPG48)
- Oculomotor apraxia type I (AOA1)
- Arginase deficiency
- Hereditary hyperekplexia, Early infantile epileptic encephalopathy 8 (EIEE8)
- Hereditary spastic paraplegia 61 (HSP61/SPG61)
- Metachromatic leukodystrophy
- West syndrome, Early infantile epileptic encephalopathy (EIEE), X-linked lissencephaly with ambiguous genitalia (XLAG)
- Argininosuccinate lyase deficiency
- Asparagine synthetase deficiency (ASNS)
- Canavan disease
- Citrullinemia type I
- Bohring-Opitz syndrome (BOS)
- Hyperekplexia type 4 (HKPX4)
- ATL1-related conditions:
- Hereditary sensory neuropathy 1D (HSN1D)
- Hereditary spastic paraplegia type 3A (HSP3A/SPG3A)
- Ataxia-telangiectasia (AT)
- Kufor-Rakeb syndrome (KRS); Spastic paraplegia (SPG78)
- Dystonia 12 (DYT12); Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome; Alternating hemiplegia of childhood type 2 (AHC2)
- Menkes disease (MD), Occipital Horn syndrome (OHS), Charcot-Marie-Tooth distal hereditary motor neuropathy
- Wilson disease
- Cerebellar ataxia, intellectual disability and dysequilibrium syndrome 4 (CAMRQ4)
- Alpha-thalassemia X-linked intellectual disability syndrome
- 3-Methylglutaconic aciduria type 1
- AUTS2 syndrome
- Hereditary spastic paraplegia (SPG26) – B4GALNT1-congenital disorder of glycosylation (B4GALNT1-CDG)
- X-linked deafness, dystonia, and cerebral hypomyelination syndrome
- Maple syrup urine disease (MSUD)
- BICD2-related condition:
- Spinal muscular atrophy, lower extremity predominant 2A (SMALED2A)
- Spinal muscular atrophy, lower extremity predominant 2B (SMALED2B)
- BSCL2-related conditions:
- Charcot-Marie-Tooth disease type 2 (CMT2)
- Distal hereditary motor neuropathy type 5 (HMN5)
- Spastic paraplegia 17 (SPG17) (Silver syndrome)
- Congenital generalized lipodystrophy, type 2 (CGL2)
- Biotinidase deficiency
- Hereditary spastic paraplegia 55 (HSP55/SPG55),
- Combined oxidative phosphorylation deficiency 7
- Membrane protein-associated neurodegeneration (MPAN),
- Hereditary spastic paraplegia (HSP43/SPG43)
- Early onset infantile epileptic encephalopathy (EIEE),
- Episodic ataxia type 2 (EA2),
- Familial hemiplegic migraine type I (FHM1)
- CACNA1G-related conditions:
- Spinocerebellar ataxia 42 (SCA42)
- Juvenile myoclonic epilepsy
- Cerebellar ataxia with intellectual disability (CANPMR)
- Hereditary spastic paraplegia 76 (HSP76/SPG76)
- CASK-related conditions:
- Intellectual disability
- FG syndrome 4 (FGS4)
- Intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
- Homocystinuria due to cystathionine beta-synthase (CBS) deficiency
- CCDC88C-related conditions
- Hereditary sensory neuropathy with spastic paraplegia
- CDKL5-related disorders:
- Early infantile epileptic encephalopathy (EIEE)
- West syndrome
- atypical Rett syndrome
- Angelman-like syndrome
- CEP290-related conditions:
- Leber congenital amaurosis (LCA)
- Joubert syndrome
- Bardet-Biedl syndrome
- CHD8-related condition
- Congenital myasthenic syndrome (CMS)
- Dystonia 23 (DYT23)
- Neuronal ceroid lipofuscinosis type 3 (CLN3)
- Neuronal ceroid lipofuscinosis type 5 (CLN5)
- Neuronal ceroid lipofuscinosis type 6 (CLN6)
- Neuronal ceroid lipofuscinosis type 8 (CLN8)
- CLTC-related intellectual disability; Atypical Rett syndrome
- COASY protein-associated neurodegeneration (CoPan)
- COL4A1-related disorders
- Brain small vessel disease 2 with or without ocular anomalies (BSVD2)
- COL6A3-related conditions:
- Dystonia 27 (DYT27)
- Bethlem myopathy
- Ullrich congenital muscular dystrophy
- Carbamoyl phosphate synthetase 1 (CPS1) deficiency
- Spastic paraplegia 73 (HSP73/SPG73)
- Rubinstein-Taybi syndrome
- Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS)
- CTNNB1-related intellectual disability
- Neuronal ceroid lipofuscinosis type 10 (CLN10)
- Cerebrotendinous xanthomatosis
- Hereditary spastic paraplegia 56 (HSP56/SPG56)
- CYP7B1-related conditions:
- Hereditary spastic paraplegia type 5A (SPG5A)
- Congenital bile acid synthesis defect type 3 (CBAS3)
- Hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL)
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
- Dopamine beta-hydroxylase deficiency
- Woodhouse-Sakati syndrome (WSS)
- Aromatic L-amino acid decarboxylase deficiency (AADC)
- DDHD1-related conditions
- Hereditary spastic paraplegia (SPG28)
- Juvenile amyotrophic lateral sclerosis (JALS)
- Hereditary spastic paraplegia 54 (HSP54/SPG54)
- DDX3X-related intellectual disability syndrome
- DHDDS-related conditions:
- Retinitis pigmentosa (RP),
- Developmental and epileptic encephalopathy syndrome,
- Congenital disorder of glycosylation (CDG-Ibb)
- Megaloblastic anemia due to dihydrofolate reductase deficiency
- Pyruvate dehydrogenase E2 (PDHE2) deficiency
- Dihydrolipoamide dehydrogenase deficiency (DLD)
- Duchenne muscular dystrophy, Becker muscular dystrophy
- Hyperphenylalaninemia (HPA)
- Lethal congenital contracture syndrome 5
- Congenital myasthenic syndrome 13 (CMS13); DPAGT1-congenital disorder of glycosylation (CDG-Ij)
- DYNC1H1-related conditions:
- Charcot-Marie-Tooth disease type 20
- Spinal muscular atrophy, lower extremity 1 (SMALED1)
- Intellectual disability
- Intellectual disability disorder 7
- EEF2-related conditions:
- Spinocerebellar ataxia 26 (SCA26)
- Neurodevelopmental disorder
- Leukoencephalopathy with vanishing white matter
- Spinocerebellar ataxia 34 (erythrokeratodermia with ataxia); Ichthyosis, spastic quadriplegia, and intellectual disability
- Spinocerebellar ataxia 34 (SCA34) (erythrokeratodermia with ataxia); Ichthyosis, spastic quadriplegia, and intellectual disability
- Spinocerebellar ataxia 38 (SCA38)
- Hereditary spastic paraplegia 64 (HSP64/SPG64)
- Cockayne syndrome B
- Cockayne syndrome A
- Hereditary spastic paraplegia 62 (HSP62/SPG62); Amyotrophic lateral sclerosis (ALS)
- Hereditary spastic paraplegia 18 (HSP18/SPG18)
- Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia type II)
- Ethylmalonic encephalopathy
- Pontocerebellar hypoplasia (PCH) type 1B
- Fatty acid hydroxylase-associated neurodegeneration (FAHN) (Hereditary spastic paraplegia 35)
- Hypomyelination and congenital cataracts (HCC)
- Hereditary spastic paraplegia 77, Combined oxidative phosphorylation deficiency 14
- Spinocerebellar ataxia 45 (SCA45)
- Developmental delay and epileptic encephalopathy 47 (DEE47)
- Spinocerebellar ataxia 27 (SCA27)
- Fumarate hydratase deficiency
- Cerebral folate deficiency
- Congenital/atypical Rett syndrome
- Neurodegeneration with neuroferritinopathy, Hereditary hyperferritinemia-cataract syndrome (HHCS), L-ferritin deficiency
- Fucosidosis
- Early infantile epileptic encephalopathy (EIEE)
- Developmental and epileptic encephalopathy (DEE), Spastic quadriplegic cerebral palsy (CPSQ1)
- Krabbe disease
- Guanidinoacetate methyltransferase deficiency (GAMT)
- Cerebral creatine deficiency due to arginine:glycine amidinotransferase deficiency (AGAT)
- Gaucher disease
- Spastic paraplegia 46 (HSP46/SPG46)
- Glutaric acidemia type I
- Dopa-responsive dystonia (DRD), GTP cyclohydrolase deficiency
- Alexander disease
- Hereditary spastic paraplegia 44 (HSP44/SPG44); Hypomyelinating leukodystrophy 2 (HLD, Pelizaeus-Merzbacher-like disease)
- GM1 gangliosidosis, Mucopolysaccharidosis IVB (MPSIVB) (Morquio B)
- Hyperekplexia type 1 (HKPX1)
- Hyperekplexia type 2 (HKPX2)
- GM2-gangliosidosis, AB variant
- Dystonia 25 (DYT25)
- Early infantile epileptic encephalopathy; Neurodevelopmental disorder with involuntary movements (NEDIM)
- Intellectual disability 42
- Mucopolysaccharidosis type IIID (MPS IIID) (Sanfilippo syndrome D)
- Childhood onset chorea with psychomotor impairment
- Spinocerebellar ataxia 18 (SCAR18)
- Early infantile epileptic encephalopathy (EIEE); Intellectual disability (ID)
- Developmental and epileptic encephalopathy (DEE) (Early infantile epileptic encephalopathy), Intellectual disability (ID)
- Spinocerebellar ataxia 44 (SCA44); Spinocerebellar ataxia 13 (SCAR13)
- Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS)
- HESX1-related conditions
- Tay-Sachs disease
- Sandhoff disease
- HGSNAT-related conditions:
- Mucopolysaccharidosis IIIC (MPS IIIC) (Sanfilippo syndrome C)
- Retinitis pigmentosa (RP)
- Holocarboxylase synthetase deficiency
- 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency
- Dystonia 2 (DYT2)
- HPRT1 deficiency, Lesch-Nyhan syndrome
- 2-Methyl-3-hydroxybutyric aciduria
- D-bifunctional protein deficiency (DBP), Perrault syndrome
- Hereditary spastic paraplegia 13, Hypomyelinating leukodystrophy 4 (MitCHAP60 disease)
- Multiple mitochondrial dysfunctions syndrome 3 (MMDS3)
- Joubert syndrome
- IQSEC2-related X-linked intellectual disability
- Early onset neurodegeneration with choreoathetoid movements and microcytic anemia
- Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency
- Spinocerebellar ataxia type 15 (SCA15); Spinocerebellar ataxia type 29 (SCA29); Gillespie syndrome
- Spastic quadriplegic cerebral palsy and intellectual disability
- KAT6A syndrome
- KCNA2-related conditions:
- Hereditary spastic paraplegia and ataxia
- Developmental and epileptic encephalopathy
- Spinocerebellar ataxia type 13 (SCA13)
- Keppen-Lubinsky syndrome
- Paroxysmal nonkinesigenic dyskinesia, with or without epilepsy (PNKD)
- KCNQ2-related conditions:
- Benign familial neonatal seizures (BFNS)
- Developmental and epileptic encephalopathy
- KCNT1-related early infantile epileptic encephalopathy, Nocturnal frontal lobe epilepsy (ADNFLE)
- Myoclonic dystonia 26
- Neuronal ceroid lipofuscinosis type 14 (CLN14) (Progressive myoclonic epilepsy with or without intracellular inclusions)
- X-linked intellectual disability, Claus-Jensen type
- Spastic paraplegia, nystagmus and obesity
- Hereditary sensory neuropathy type 2C (HSN2C), Spastic paraplegia 30 (SPG30), Complicated spastic paraplegia and intellectual disability 9 (ID9)
- Spastic ataxia type 2
- KIF5A-related conditions:
- Amyotrophic lateral sclerosis 25
- Hereditary spastic paraplegia 10
- Charcot-Marie-Tooth disease type 2
- Intractable neonatal myoclonus
- Wiedemann-Steiner syndrome (WDSTS)
- Dystonia 28 (DYT28)
- Kleefstra syndrome
- Hereditary spastic paraplegia 1 (HSP1/SPG1)
- L-2-hydroxyglutaric aciduria
- LAMA2-related muscular dystrophy (LAMA2 MD)
- Hyperglycinemia, lactic acidosis and seizures (HGCLAS), Pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD)
- Methylmalonic aciduria with homocystinuria due to cobalamin F deficiency (MMAcblF)
- Hereditary spastic paraplegia 75 (HSP75/SPG75)
- Monoamine oxidase A deficiency (Brunner syndrome)
- Cardiofaciocutaneous (CFC) syndrome
- Combined oxidative phosphorylation deficiency 25, Spastic ataxia 3
- Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM)
- 3 Methylcrotonyl-CoA carboxylase deficiency (3MCC)
- Methylmalonyl-CoA epimerase deficiency
- Rett syndrome
- Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
- Neuronal ceroid lipofuscinosis type 7 (CLN7), Retinal dystrophy
- Myopathy with extrapyramidal sign
- Malonyl-CoA decarboxylase deficiency
- Methylmalonic aciduria cobalamin A type (MMACblA)
- Methylmalonic aciduria cobalamin B type (MMACblB)
- Methylmalonic aciduria with homocystinuria due to cobalamin C (cblC) deficiency
- Methylmalonic aciduria with homocystinuria due to cobalamin D (cblD) deficiency
- Mitochondrial pyruvate carrier deficiency (MPYCD)
- Severe MTHFR deficiency
- Smith-Kingsmore syndrome (SKS)
- Spastic ataxia 4
- Cobalamin G (cblG) deficiency
- Cobalamin E (cblE) deficiency
- Abetalipoproteinemia
- Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
- Ogden syndrome
- Cerebral palsy
- Mucopolysaccharidosis type IIIB (MPS IIIB) (Sanfilippo syndrome B)
- N-acetylglutamate synthase (NAGS) deficiency
- Infantile liver failure syndrome, Short stature with optic nerve atrophy and Pelger-Huët anomaly (SOPH) syndrome
- NGLY1-congenital disorder of glycosylation (CDG-1V)
- Hereditary spastic paraplegia 6 (HSP6/SPG6)
- Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP)
- Niemann-Pick disease type C (NPC)
- Nephronophthisis
- Hereditary spastic paraplegia 45 (HSP45/S{G45)
- Early infantile epileptic encephalopathy (EIEE); NUS1-congenital disorder of glycosylation (NUS1-CDG, CDG-Iaa)
- Ornithine transcarbamylase (OTC) deficiency
- PAFAH1B1-related lissencephaly
- Phenylketonuria (PKU)
- Intellectual disability 30 (XLID30)
- Molybdenum cofactor deficiency
- Pantothenate kinase-associated neurodegeneration (PKAN)
- Tetrahydrobiopterin-deficient hyperphenylalaninemia
- Propionic acidemia (PA)
- Diencephalic-mesencephalic junction dysplasia syndrome (DMJD)
- Phosphodiesterase 10A
- Early onset chorea
- Pyruvate dehydrogenase E1-alpha (PDHE1α) deficiency
- Pyruvate dehydrogenase complex (PDHC) deficiency
- Pyruvate dehydrogenase phosphatase deficiency (PDHPD)
- Primary coenzyme Q10 deficiency 2 (COQ10D2)
- Primary coenzyme Q10 deficiency 3 (COQ10D3)
- Spinocerebellar ataxia 23 (SCA23)
- Phosphoglycerate dehydrogenase deficiency
- PHIP-related conditions
- PIGN-congenital disorder of glycosylation (PIGN-CDG) (Multiple congenital anomalies-hypotonia-seizures syndrome)
- PIGT-congenital disorder of glycosylation (PIGT-CDG) (Glycosylphosphatidylinositol biosynthesis defect 7)
- PLA2G6-related conditions:
- Infantile neuroaxonal dystrophy (INAD)
- Neurodegeneration with brain iron accumulation (NBIA 2B)
- Parkinson disease (PARK14)
- Spinocerebellar ataxia 46 (SCA46)
- Spastic paraplegia 2 (SPG2), Pelizaeus-Merzbacher disease (PMD)
- Primary coenzyme Q10 deficiency
- PMM2-congenital disorder of glycosylation (CDG-Ia)
- Familial paroxysmal nonkinesigenic dyskinesia, PNKD-related Tourette syndrome
- Purine nucleoside phosphorylase deficiency
- PNPLA-6 related conditions:
- Hereditary spastic paraplegia 39 (HSP39/SPG39)
- Lawrence-Moon syndrome (LNMS)
- Oliver-McFarlane syndrome (OMCS)
- Boucher-Neuhauser syndrome (BNHS)
- Pyridoxal 5′-phosphate-dependent epilepsy
- POLG-related disorders:
- Alpers-Huttenlocher (AHS)
- Childhood myocerebrohepatopathy spectrum (MCHS)
- Myoclonic epilepsy myopathy sensory ataxia (MEMSA)
- Progressive external ophthalmoplegia
- Ataxia neuropathy spectrum (ANS)
- Hypomyelinating leukodystrophy 7 (HLD7); Wiedemann-Rautenstrauch syndrome
- Neuronal ceroid lipofuscinosis 1 (CLN1)
- Dystonia 16 (DYT16)
- PRRT2-related conditions:
- Episodic kinesigenic dyskinesia 1 (EKD1)
- Benign familial infantile seizures 2 (BFIS2)
- Familial infantile convulsions with paroxysmal choreoathetosis (ICCA)
- Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA)
- Phosphoserine aminotransferase (PSAT) deficiency, Neu-Laxova syndrome
- Phosphoserine phosphatase deficiency (PSPHD)
- Noonan Spectrum Disorders (NSDs) (RASopathies); Metachondromatosis (MC)
- Tetrahydrobiopterin-deficient hyperphenylalaninemia due to 6-pyruvate tetrahydropterin synthase deficiency
- PURA-related conditions
- Tetrahydrobiopterin-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency (DHPR)
- Warburg micro syndrome (WARBM)
- Infection-induced acute necrotizing encephalopathy
- Hereditary spastic paraplegia 31, Distal hereditary motor neuropathy 5B
- Hereditary spastic paraplegia 72 (HSP72/SPG72)
- RHOBTB2-related developmental and epileptic encephalopathy
- Pyridoxine-dependent epilepsy
- Cystic leukoencephalopathy
- Hereditary spastic paraplegia 12 (HSP12/SPG12)
- Spastic ataxia of Charlevoix-Saguenay
- Glass syndrome
- Spectrum of autosomal dominant SCN1A seizure disorders (Dravet syndrome), Familial hemiplegic migraine (FHM3)
- SCN2A-related conditions:
- Benign familial neonatal-infantile seizures (BFNIS)
- Early infantile epileptic encephalopathy (EIEE)
- Episodic ataxia
- SCN3A-related developmental and epileptic encephalopathy; Childhood onset epilepsy
- Early infantile epileptic encephalopathy (EIEE), Benign familial neonatal seizures (BFNS)
- SETD5-related neurodevelopmental syndrome
- Dystonia 11
- Mucopolysaccharidosis type IIIA (MPS IIIA) (Sanfilippo syndrome A)
- SHH-related holoprosencephaly
- Marinesco-Sjogren syndrome
- SIX3-related holoprosencephaly
- Allan-Herndon-Dudley syndrome
- Infantile free sialic acid storage disorder (ISSD)
- Brain dopamine-serotonin vesicular transport disease
- Biotin-responsive basal ganglia disease (BBGD), Thiamine Metabolism Dysfunction Syndrome 2 (THMD2)
- Spastic tetraplegia, thin corpus callosum and progressive microcephaly (SPATCCM)
- Hyperornithinemia-hyperammonemia-homocystinuria (HHH) syndrome
- Zellweger spectrum disorder (ZSD)
- Glucose transporter type 1 (GLUT1) deficiency
- Hypermanganesemia with dystonia
- Huppke-Brendel syndrome (HBS) (Congenital cataracts, hearing loss, and neurodegeneration)
- Hypomanganesemia with dystonia type 2 (HMNDYT2); Hyperostosis carnialis interna
- Hartnup disease
- Infantile parkinsonism-dystonia (PKDYS1) (Dopamine transporter deficiency syndrome)
- Hyperekplexia 3 (HKPX3)
- Creatine transporter deficiency (CTD)
- Zhu-Tokita-Takenouchi-Kim syndrome
- Hereditary spastic paraplegia 20 (Troyer syndrome)
- Hereditary spastic paraplegia 4 (SPG4)
- SPATA5-related epilepsy, hearing loss, and intellectual disability syndrome
- Juvenile amyotrophic lateral sclerosis 5, Hereditary spastic paraplegia 11 (SPG11), Charcot-Marie-Tooth disease type 2X
- Hereditary spastic paraplegia 21 (HSP21/SPG21) (Mast syndrome)
- Hereditary spastic paraplegia 7
- Sepiapterin reductase deficiency
- SPTAN1-related early infantile epileptic encephalopathy
- Spinocerebellar ataxia 5 (SCA5); Spinocerebellar ataxia 14 (SCAR14)
- Neurodegeneration with ataxia, dystonia and gaze palsy (NADGP); Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
- ST3GAL5-congenital disorder of glycosylation (ST3GAL5); GM3 synthase deficiency
- Microcephaly-capillary malformation syndrome
- Spinocerebellar ataxia 16 (SCAR16); Spinocerebellar ataxia 48 (SCA48)
- STXBP1-related early infantile epileptic encephalopathy
- Succinate-CoA ligase deficiency
- Mitochondrial DNA depletion syndrome
- Sulfite oxidase deficiency
- Leigh syndrome due to mitochondrial complex IV deficiency, Charcot-Marie-Tooth disease type 4K
- SYNGAP1-related conditions
- TAF1-related conditions
- Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration (MECRCN)
- TBC1D24-related epilepsy disorders
- Infantile hypotonia with intellectual disability and characteristic facies
- Pierpont syndrome
- Pitt-Hopkins syndrome
- Hereditary spastic paraplegia (HSP49/SPG49)
- TFG-related conditions:
- Hereditary motor and sensory neuropathy, Okinawa type (HMSNO)
- Hereditary spastic paraplegia 57 (HSP57/SPG 57)
- TGIF1-related holoprosencephaly
- Spinocerebellar ataxia 35 (SCA35)
- Tyrosine hydroxylase deficiency (Segawa syndrome)
- Dystonia 6 (DYT6)
- Spinocerebellar ataxia 21 (SCA 21)
- Dystonia 1 (DYT1)
- Neuronal ceroid lipofuscinosis 2 (CLN2)
- Aicardi-Goutieres syndrome 1 (AGS1), Retinal vasculopathy with cerebral leukodystrophy
- Spinocerebellar ataxia 41 (SCA41)
- Pontocerebellar hypoplasia
- Spinocerebellar ataxia 11 (SCA 11)
- Ataxia with vitamin E deficiency (AVED)
- TUBA1A-related cortical malformations
- TUBB2A-related cortical malformation syndrome
- TUBB2B-related cortical malformation syndrome
- TUBB3-related conditions:
- Cortical malformation syndrome
- Congenital fibrosis of the extraocular muscles
- TUBB4A-related conditions:
- Hypomyelinating leukodystrophy 6 (HLD6)
- Dystonia 4 (DYT4) (whispering dystonia)
- Angelman syndrome (AS)
- Spastic paraplegia 79 (HSP79/SPG79)
- VAC14-related conditions:
- Yunis Varon syndrome (YVS)
- Childhood-onset striatonigral degeneration (SNDC)
- Spastic ataxia; Congenital myasthenic syndrome 25 (CMA25)
- Choreoacanthocytosis
- Spinocerebellar ataxia 4 (SCAR4) (Cerebellar ataxia-saccadic intrusion syndrome)
- Hereditary spastic paraplegia 53 (HSP53/SPG53)
- WARS2-related leukoencephalopathy
- Hereditary spastic paraplegia 8 (HSP8/SPG8); Cranio-cerebello-cardiac (3C) syndrome (Ritscher-Schinzel syndrome)
- Beta-propeller protein-associated neurodegeneration (BPAN)
- Primary microcephaly
- ZBTB18-related intellectual disability
- Wieacker-Wolff syndrome (WRWF)
- Mowat-Wilson syndrome
- Hereditary spastic paraplegia
- Hereditary spastic paraplegia 15 (HSP15/SPG15)
- Structural brain anomalies with impaired intellectual development and craniosynostosis
- ZIC2-related holoprosencephaly
- Dandy-Walker malformation

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