| children | - 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 711409002
- 3-phosphoglycerate dehydrogenase deficiency infantile form 733637001
- 3-phosphoglycerate dehydrogenase deficiency juvenile form 733636005
- Acute neuronopathic Gaucher's disease 12246008
- Acyl-CoA oxidase deficiency 238069004
- Adrenoleukodystrophy 65389002
- Allan-Herndon-Dudley syndrome 702327009
- Alpha-N-acetylgalactosaminidase deficiency 238048001
- Arginase deficiency 23501004
- Aspartylglucosaminuria 54954004
- Autism spectrum disorder, epilepsy, arthrogryposis syndrome 733623005
- Autosomal recessive cerebellar ataxia with late-onset spasticity 763348005
- Brunner syndrome 718210003
- CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation 1237417007
- Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome 1220595008
- Cholestanol storage disease 63246000
- COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation 1220574003
- Combined deficiency of sialidase AND beta galactosidase 35691006
- Combined oxidative phosphorylation defect type 11 783558004
- Combined oxidative phosphorylation defect type 23 1173036000
- Combined oxidative phosphorylation defect type 25 1173035001
- Combined oxidative phosphorylation defect type 27 1172844009
- Combined oxidative phosphorylation defect type 29 1172843003
- Combined oxidative phosphorylation defect type 30 1172841001
- Congenital cataract, hearing loss, severe developmental delay syndrome 773648002
- Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome 1208936008
- Congenital lactic acidosis Saguenay-Lac-Saint-Jean type 718219002
- Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome 782757004
- Congenital muscular dystrophy with cerebellar involvement 783176002
- Congenital muscular dystrophy with intellectual disability 783174004
- Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000
- Contiguous ABCD1 DXS1357E deletion syndrome 773415005
- Deficiency of alpha-ketoglutarate dehydrogenase 733630004
- Deficiency of cerebroside-sulfatase 66521008
- Encephalopathy due to mitochondrial and peroxisomal fission defect 1236807002
- Encephalopathy due to prosaposin deficiency 720864008
- Ethylmalonic encephalopathy 723307008
- Fabry's disease 16652001
- Fatty acyl-CoA reductase 1 deficiency 1237619001
- Folinic acid responsive seizure syndrome 717276003
- Galactosylceramide beta-galactosidase deficiency 192782005
- Gangliosidosis 50967008
- Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006
- GM3 synthase deficiency 722762005
- Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome 774205007
- Hereditary hyperekplexia 724351008
- Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 764456001
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 30287008
- Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome 782886007
- Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005
- Leber's optic atrophy 58610003
- Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome 1172839002
- Leukoencephalopathy, dystonia, motor neuropathy syndrome 733452000
- Limb girdle muscular dystrophy due to POMK deficiency 1234819007
- Lipoic acid synthetase deficiency 782744007
- Male emopamil-binding protein disorder with neurological defect 782739000
- Megaconial congenital muscular dystrophy 1230273004
- MEPAN syndrome 1236805005
- Metachromatic leukodystrophy 396338004
- Mitochondrial DNA depletion syndrome encephalomyopathic form 765401006
- Mitochondrial DNA depletion syndrome hepatocerebrorenal form 782771007
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 783734000
- Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002
- Mitochondrial pyruvate carrier deficiency 1217212009
- Mucolipidosis type IV 725296006
- Multiple congenital anomalies, hypotonia, seizures syndrome 785303004
- Multiple congenital anomalies, hypotonia, seizures syndrome type 2 773643006
- Multiple mitochondrial dysfunctions syndrome type 2 1208486005
- Multiple mitochondrial dysfunctions syndrome type 3 1208620009
- Multiple mitochondrial dysfunctions syndrome type 4 1208621008
- Multiple mitochondrial dysfunctions syndrome type 5 1279890001
- Multiple mitochondrial dysfunctions syndrome type 6 1279891002
- Myoclonic epilepsy myopathy sensory ataxia 699328003
- NAD(P)HX dehydratase deficiency 1251446004
- NAD(P)HX epimerase deficiency 1251447008
- NARP syndrome 237984008
- Navajo neurohepatopathy 784346006
- Neonatal epileptic encephalopathy due to glutaminase deficiency 1222662000
- Neuronal ceroid lipofuscinosis 42012007
- Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 237988006
- Niemann-Pick disease, type A 52165006
- Niemann-Pick disease, type C, acute form 86444004
- Phytanic acid storage disease 25362006
- Pseudoprogeria syndrome 733086003
- Pyridoxine-dependent epilepsy 734434007
- Recessive mitochondrial ataxia syndrome 782696001
- Seizures, scoliosis, macrocephaly syndrome 1187250005
- Serine biosynthesis pathway deficiency, infantile/juvenile form 1284855000
- Severe X-linked mitochondrial encephalomyopathy 722212004
- Sialidosis 38795005
- Solute carrier family 35 member A2 congenital disorder of glycosylation 771516000
- Spastic ataxia, dysarthria due to glutaminase deficiency 1255323007
- Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome 1237418002
- Subacute neuronopathic Gaucher's disease 5963005
- Thiamine-responsive encephalopathy 723557004
- Thyrotoxicosis due to pituitary thyroid hormone resistance 360353005
- WARS2-related combined oxidative phosphorylation defect 1260128008
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