Genes associated with “hypotonia”
Some sources returned errors (2)
omim: Error: OMIM search: 429
omimClinSyn: Error: OMIM CS: 429
How are genes scored? (0–100 composite)
Strong Candidates
19 genesprocollagen-lysine,2-oxoglutarate 5-dioxygenase 1
developmental and epileptic encephalopathy 101
peroxisome biogenesis disorder 3A (Zellweger)
Consider
114 genestransportin 2
Joubert syndrome 1
genitopatellar syndrome
centrosomal protein 290
transmembrane protein 67
PMM2-congenital disorder of glycosylation
G protein subunit beta 1
guanidinoacetate methyltransferase deficiency
arthrogryposis multiplex congenita 3, myogenic type
thanatophoric dysplasia type 1
peroxisome biogenesis disorder 6A (Zellweger)
protein phosphatase 2 catalytic subunit alpha
cardiofaciocutaneous syndrome 4
pyruvate dehydrogenase E1-alpha deficiency
chromosome 2q32-q33 deletion syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
Warburg micro syndrome 3
succinic semialdehyde dehydrogenase deficiency
peroxisome biogenesis disorder 5B
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Joubert syndrome 28
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Warburg micro syndrome 2
coenzyme Q10 deficiency, primary, 1
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
GRACILE syndrome
transcription factor 20
syntaxin binding protein 1
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
developmental and epileptic encephalopathy, 12
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
mitochondrial DNA depletion syndrome 8a
developmental and epileptic encephalopathy, 13
MSL complex subunit 3
SRY-box transcription factor 5
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SNF2 related chromatin remodeling ATPase 5
holocarboxylase synthetase deficiency
mediator complex subunit 27
Rauch-Steindl syndrome
EGF-like fibulin extracellular matrix protein 1
DExH-box helicase 30
peptidase, mitochondrial processing subunit alpha
SIL1 nucleotide exchange factor
free sialic acid storage disease, infantile form
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Rafiq syndrome
B4GALT1-congenital disorder of glycosylation
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
calcium voltage-gated channel subunit alpha1 D
POU class 3 homeobox 3
MEGF10-related myopathy
intellectual developmental disorder with impaired language and dysmorphic facies
ubiquitin specific peptidase 7
dystonin
Possible
173 genes — click to expand
mitochondrial intermediate peptidase
vesicle associated membrane protein 2
congenital myopathy 11
cardiac, facial, and digital anomalies with developmental delay
activating signal cointegrator 1 complex subunit 1
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
nuclear export mediator factor
macrocephaly, acquired, with impaired intellectual development
epilepsy with myoclonic atonic seizures
glycosylphosphatidylinositol biosynthesis defect 15
infantile cerebellar-retinal degeneration
intellectual developmental disorder, X-linked, syndromic 37
Kaya-Barakat-Masson syndrome
Kleefstra syndrome 2
prolyl 4-hydroxylase, transmembrane
SWI/SNF related BAF chromatin remodeling complex subunit D1
transmembrane protein 222
Larsen-like syndrome, B3GAT3 type
ARF GTPase 3
hypotonia, infantile, with psychomotor retardation and characteristic facies 3
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Alagille syndrome due to a JAG1 point mutation
kinesin family member 5B
intellectual disability, X-linked 99, syndromic, female-restricted
dedicator of cytokinesis 3
rubicon autophagy regulator
sorting nexin 27
TAM41 mitochondrial translocator assembly and maintenance homolog
developmental and epileptic encephalopathy, 80
Sp9 transcription factor
hereditary spastic paraplegia 47
autosomal recessive spinocerebellar ataxia 17
developmental and epileptic encephalopathy, 48
campomelic dysplasia
developmental and epileptic encephalopathy, 65
Joubert syndrome 32
nudix hydrolase 2
siah E3 ubiquitin protein ligase 1
VISS syndrome
ATPase plasma membrane Ca2+ transporting 3
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
alacrima, achalasia, and intellectual disability syndrome
hereditary spastic paraplegia 45
growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
developmental and epileptic encephalopathy, 16
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
SSR4-congenital disorder of glycosylation
FG syndrome 2
syndromic X-linked intellectual disability Claes-Jensen type
syndromic X-linked intellectual disability Snyder type
immunodeficiency 93 and hypertrophic cardiomyopathy
combined oxidative phosphorylation defect type 7
myopathy, centronuclear, 5
immunodeficiency 23
developmental delay, impaired speech, and behavioral abnormalities
diabetes mellitus, permanent neonatal 3
carnitine palmitoyl transferase II deficiency, neonatal form
fucosidosis
multiple mitochondrial dysfunctions syndrome 7
neurodevelopmental disorder with hypotonia, seizures, and absent language
methylmalonic aciduria, cblA type
developmental and epileptic encephalopathy, 52
epilepsy, familial focal, with variable foci 4
intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
leukoencephalopathy, progressive, infantile-onset, with or without deafness
intellectual disability, autosomal recessive 18
Nizon-Isidor syndrome
Joubert syndrome 27
nemaline myopathy 5C, autosomal dominant
combined oxidative phosphorylation deficiency 52
neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
acrofacial dysostosis Cincinnati type
Ferguson-Bonni neurodevelopmental syndrome
hypomyelinating leukodystrophy 6
Kohlschutter-Tonz syndrome-like
mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
developmental and epileptic encephalopathy, 41
Hogue-Janssens syndrome 1
Rajab interstitial lung disease with brain calcifications 1
intellectual disability, autosomal dominant 58
Hermansky-Pudlak syndrome 10
hypoparathyroidism-retardation-dysmorphism syndrome
neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
neurodevelopmental disorder with eye movement abnormalities and ataxia
developmental and epileptic encephalopathy, 39
intellectual developmental disorder, autosomal recessive 83
multiple mitochondrial dysfunctions syndrome 6
intellectual disability, autosomal recessive 46
Sengers syndrome
hereditary spastic paraplegia 52
myopathy, centronuclear, 2
cortical dysplasia-focal epilepsy syndrome
Warsaw breakage syndrome
fetal akinesia-cerebral and retinal hemorrhage syndrome
Ehlers-Danlos syndrome, musculocontractural type 2
congenital myasthenic syndrome 4C
3-hydroxyacyl-CoA dehydrogenase deficiency
HSD10 mitochondrial disease
Aicardi-Goutieres syndrome 7
beta-mannosidosis
MOGS-congenital disorder of glycosylation
autosomal recessive osteopetrosis 5
paramyotonia congenita of Von Eulenburg
Fontaine progeroid syndrome
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
hypomyelinating leukodystrophy 12
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.