Genes associated with “progressive neurologic deterioration”
How are genes scored? (0–100 composite)
Strong Candidates
2 genesConsider
19 genesadenylosuccinate lyase
myoclonic epilepsy of Lafora 1
developmental and epileptic encephalopathy, 53
methyl-CpG binding protein 2
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 1; IMNEPD1
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
Diabetes mellitus, transient neonatal 3
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
mucosulfatidosis
Hurler syndrome
progressive myoclonic epilepsy type 8
cortical dysplasia-focal epilepsy syndrome
Possible
53 genes — click to expand
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Krabbe disease due to saposin A deficiency
leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical
GM1 gangliosidosis type 2
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy
Sandhoff disease
leukoencephalopathy with vanishing white matter 5
Griscelli syndrome type 2
mucopolysaccharidosis type 3B
combined oxidative phosphorylation defect type 15
Revesz syndrome
BH4-deficient hyperphenylalaninemia A
dihydropteridine reductase deficiency
nephropathic cystinosis
mucolipidosis type IV
mitochondrial complex I deficiency, nuclear type 31
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
megalencephalic leukoencephalopathy with subcortical cysts 2A
Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical
AICARDI-GOUTIERES SYNDROME 9; AGS9
GAUCHER DISEASE, TYPE II; GD2
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C
MUCOLIPIDOSIS IV; ML4
notch receptor 3
mitochondrial complex I deficiency, nuclear type 33
combined oxidative phosphorylation deficiency 37
cerebrooculofacioskeletal syndrome 1
microcephalic osteodysplastic primordial dwarfism type I
mitochondrial complex III deficiency nuclear type 6
mitochondrially encoded cytochrome c oxidase II
thromboxane A synthase 1
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.