If you have a diagnosis, which condition has your child/children been diagnosed with?
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3-methylglutaconic aciduria type 7 Abetalipoproteinaemia Aicardi-Goutières syndrome Alexander disease (type I) Alpha-mannosidosis Alternating hemiplegia of childhood Alpers-Huttenlocher syndrome Aspartylglucosaminuria (AGU) Ataxia-telangiectasia Beta-mannosidosis Beta-propeller protein-associated neurodegeneration (BPAN) Biotin-thiamine-responsive basal ganglia disease Brain abnormalities, neurodegeneration, and dysosteosclerosis Canavan disease Cerebrotendinous xanthomatosis Cerebral folate deficiency Christianson syndrome Coats plus syndrome Cobalamin C disease Cockayne syndrome/xeroderma pigmentosum-Cockayne syndrome Coenzyme A synthase protein-associated neurodegeneration (COASY) Combined saposin (prosaposin) deficiency Congenital disorders of glycosylation (some including CDG1E, CDG1J, CDG2A) Congenital lactic acidosis D-bifunctional protein deficiency Dentatorubral-pallidoluysian atrophy (DRPLA) Dystonia-parkinsonism-hypermanganesemia syndrome Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Encephalopathy, familial, with neuroserpin inclusion bodies Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 and 2 Encephalopathy, progressive, with or without lipodystrophy Farber disease Fatty acid hydroxylase-associated neurodegeneration (FAHN) Fucosidosis (type I and II) Galactosialidosis Gaucher disease (type 2) Gaucher disease (type 3) Giant axonal neuropathy Globoid cell leukodystrophy (Krabbe disease) Glutathione synthetase deficiency GM1 gangliosidosis (type 1) GM1 gangliosidosis (type 2) GM2 gangliosidosis (Sandhoff disease) GM2 gangliosidosis (Tay Sachs disease) GM2 gangliosidosis - AB variant Huntington disease (juvenile form) Huntington disease-like 3 Infantile neuroaxonal dystrophy/PLA2G6-associated neurodegeneration (PLAN) Juvenile Parkinson's disease PARK19A (DNAJC6) Kearns-Sayre syndrome Kufor-Rakeb syndrome L-2-hydroxyglutaric aciduria Lafora disease Leigh syndrome Leukoencephalopathy, brain calcifications, and cysts Leukoencephalopathy, hypomyelinating, 15 Leukoencephalopathy, hypomyelinating, 20 Leukoencephalopathy, hypomyelinating, 6 Leukoencephalopathy, progressive, early childhood-onset Leukoencephalopathy, progressive, infantile-onset, with or without deafness MCHS MECP2 duplication syndrome MEGDEL MELAS MEMSA Megalencephalic leukoencephalopathy with subcortical cysts 2a Menkes disease MERRF Metachromatic leukodystrophy Mitochondrial membrane protein-associated neurodegeneration (MPAN) MNGIE Molybdenum cofactor deficiency MPS I (Hurler syndrome) MPS II (Hunter syndrome) MPS III (Sanfilippo syndrome); 4 subtypes MPS VII (Sly syndrome) Mucolipidosis type I (sialidosis type 2) Mucolipidosis type II (i-cell disease) Mucolipidosis type IV Multiple sulfatase deficiency NARP Neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline Neurodegeneration, childhood-onset, with brain atrophy Neuronal ceroid lipofuscinoses (Batten disease, 10 childhood onset subtypes) Neurodevelopmental disorder with poor language and loss of hand skills Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Neurodevelopmental disorder with seizures and gingival overgrowth Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia Niemann-Pick disease type A Niemann-Pick disease type C Nijmegen breakage syndrome Nonketotic hyperglycinemia (including variants) Pantothenate kinase-associated neurodegeneration (PKAN) Pearson syndrome PEHO (Progressive encephalopathy, oedema, hypsarrhythmia and optic atrophy) / KIF1A Associated Neurological Disorder (KAND) Pelizaeus Merzbacher disease (PMD) Peroxisomal acyl-coa oxidase deficiency Peroxisomal fatty acyl-coa reductase 1 disorder POLR3-related leukodystrophies Pycr2-related microcephaly-progressive leukoencephalopathy Pyruvate dehydrogenase deficiency Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Rett syndrome Salt and pepper developmental regression syndrome Saposin A deficiency Saposin B deficiency Saposin C deficiency Schinzel-Giedion syndrome Sialic acid storage disease SLC5A6 deficiency Spastic paraplegia type 11 Spastic paraplegia type 15 Spastic paraplegia type 46 Spastic paraplegia type 82 Spinocerebellar ataxia type 7 Spinocerebellar ataxia 17 Sulfite oxidase deficiency Temtamy syndrome Vanishing white matter disease Woodhouse-Sakati syndrome X-linked adrenoleukodystrophy Zellweger spectrum disorder α-N-acetylgalactosaminidase deficiency (Schindler disease type I) Childhood dementia of unknown cause Other
