Genes associated with “developmental regression”
Some sources returned errors (2)
omim: Error: OMIM search: 429
omimClinSyn: Error: OMIM CS: 429
How are genes scored? (0–100 composite)
Strong Candidates
21 genesAicardi-Goutieres syndrome 7
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
neurodegeneration with brain iron accumulation 2A
developmental and epileptic encephalopathy, 50
N-sulfoglucosamine sulfohydrolase
developmental and epileptic encephalopathy, 47
developmental and epileptic encephalopathy, 37
developmental and epileptic encephalopathy, 41
intellectual developmental disorder with autistic features and language delay, with or without seizures
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Consider
49 genesmitochondrial complex I deficiency, nuclear type 17
EBF transcription factor 3
FOXG1 disorder
peroxisomal acyl-CoA oxidase deficiency
Sandhoff disease
neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
hypotonia, infantile, with psychomotor retardation and characteristic facies 3
developmental and epileptic encephalopathy, 2
Lopes-Maciel-Rodan syndrome
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
mitochondrial complex IV deficiency, nuclear type 1
spastic paraplegia 82, autosomal recessive
developmental and epileptic encephalopathy, 6A
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
progressive myoclonic epilepsy type 3
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
leukoencephalopathy, progressive, infantile-onset, with or without deafness
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
outer mitochondrial membrane lipid metabolism regulator OPA3
intellectual developmental disorder with autism and macrocephaly
nucleoporin 214
multiple congenital anomalies-hypotonia-seizures syndrome 2
hypomyelinating leukodystrophy 6
multiple mitochondrial dysfunctions syndrome 9b
neuronal ceroid lipofuscinosis 2
spastic paraplegia 93, autosomal recessive
Niemann-Pick disease type A
neuronal ceroid lipofuscinosis 5
leukoencephalopathy with vanishing white matter 1
Kleefstra syndrome 1
Possible
145 genes — click to expand
mitochondrial complex I deficiency, nuclear type 4
Gaucher disease due to saposin C deficiency
intellectual disability, autosomal dominant 5
mitochondrial complex II deficiency, nuclear type 1
mitochondrial complex 2 deficiency, nuclear type 3
glutaryl-CoA dehydrogenase deficiency
mitochondrial complex 2 deficiency, nuclear type 2
3-hydroxyisobutyryl-CoA hydrolase deficiency
leukoencephalopathy, progressive, with ovarian failure
psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
developmental and epileptic encephalopathy, 67
d-bifunctional protein deficiency
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
mitochondrial complex I deficiency, nuclear type 5
ZTTK syndrome
nicotinamide nucleotide adenylyltransferase 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
developmental and epileptic encephalopathy, 8
mitochondrial complex I deficiency, nuclear type 6
intellectual disability, autosomal dominant 22
mitochondrial complex III deficiency nuclear type 8
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
nephrotic syndrome 14
Alexander disease
mitochondrial complex I deficiency, nuclear type 1
mitochondrial complex I deficiency, nuclear type 3
combined oxidative phosphorylation defect type 7
biotin-responsive basal ganglia disease
HSD10 mitochondrial disease
multiple mitochondrial dysfunctions syndrome 4
NAD(P)HX dehydratase deficiency
hyper-IgM syndrome type 1
multiple congenital anomalies-hypotonia-seizures syndrome 3
mitochondrial DNA depletion syndrome 4a
intellectual developmental disorder, autosomal recessive 83
neurodevelopmental disorder with or without early-onset generalized epilepsy
developmental and epileptic encephalopathy, 64
ethylmalonic encephalopathy
amelocerebrohypohidrotic syndrome
severe X-linked mitochondrial encephalomyopathy
mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
mitochondrial complex I deficiency, nuclear type 13
intellectual disability, X-linked, syndromic, Bain type
interleukin 1 receptor accessory protein like 1
Pitt-Hopkins-like syndrome 2
developmental and epileptic encephalopathy, 9
unc-13 homolog A
neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
encephalopathy due to defective mitochondrial and peroxisomal fission 2
alkaline ceramidase 3 deficiency
neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
LIF receptor subunit alpha
lamin A/C
NADH:ubiquinone oxidoreductase subunit B3
hyperphosphatasia with intellectual disability syndrome 6
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
GM1 gangliosidosis type 2
developmental and epileptic encephalopathy, 54
intellectual disability, X-linked 1
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
congenital disorder of deglycosylation 1
parkinsonism-dystonia 3, childhood-onset
Kohlschutter-Tonz syndrome-like
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
developmental and epileptic encephalopathy, 14
neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
intellectual developmental disorder, autosomal recessive 67
Houge-Janssens syndrome 3
mitochondrial complex III deficiency nuclear type 2
multiple mitochondrial dysfunctions syndrome 6
G elongation factor mitochondrial 1
alternating hemiplegia of childhood 1
guanidinoacetate methyltransferase deficiency
leukodystrophy, hypomyelinating, 24
neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
neurodevelopmental disorder with poor language and loss of hand skills
developmental and epileptic encephalopathy, 45
lipoyl transferase 1 deficiency
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Coffin-Siris syndrome 12
mitochondrial complex IV deficiency, nuclear type 16
leukodystrophy, hypomyelinating, 15
mitochondrial complex IV deficiency, nuclear type 19
developmental and epileptic encephalopathy 114
familial infantile bilateral striatal necrosis
hypermanganesemia with dystonia 2
lines homolog 1
neurodegeneration, childhood-onset, with cerebellar atrophy
severe neurodegenerative syndrome with lipodystrophy
Siddiqi syndrome
neurodegenerative syndrome due to cerebral folate transport deficiency
Jaberi-Elahi syndrome
multiple mitochondrial dysfunctions syndrome 3
spinocerebellar ataxia type 29
L-2-hydroxyglutaric aciduria
alpha-N-acetylgalactosaminidase deficiency type 1
combined oxidative phosphorylation defect type 24
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.