Gene Summary

Name:
calcium channel, voltage-dependent, gamma subunit 2
Synonyms:
TARP gamma 2,  stargazin,  B230105C07Rik,  B930041E13Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 100% (4 of 4)
Cerebellum  Section images heterozygote 100% (4 of 4)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 75% (3 of 4)
Ileum  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (4 of 4)
Prostate gland  Section images heterozygote 50% (2 of 4)
Spinal cord  Section images heterozygote 100% (4 of 4)
Testis  Section images heterozygote 50% (2 of 4)
Trigeminal V nerve  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 50% (2 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 50% (2 of 4)
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote 50% (2 of 4)
Hypothalamus N/A heterozygote 50% (2 of 4)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 50% (2 of 4)
Large intestine N/A heterozygote 50% (2 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 50% (2 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 25% (1 of 4)
Oviduct N/A heterozygote 25% (1 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 25% (1 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 50% (2 of 4)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 25% (1 of 4)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 4)
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 580)
aorta 0.17% (1 of 581)
blood 0.0%
bone marrow 0.0%
brain 0.87% (5 of 577)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cecum 5.65% (21 of 372)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 582)
chest bone Unavailable
colon 15.79% (21 of 133)
diaphragm 0.0%
duodenum 3.68% (5 of 136)
epididymis 15% (21 of 140)
esophagus 1.75% (7 of 400)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.76% (1 of 132)
heart 0.17% (1 of 576)
hindlimb 0.0%
hippocampus 0.52% (3 of 576)
hypothalamus 0.34% (2 of 580)
ileum 14.6% (20 of 137)
jejunum 8.82% (12 of 136)
kidney 4.65% (27 of 581)
large intestine 5.51% (32 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 577)
lung 0.35% (2 of 579)
lymph node 0.17% (1 of 575)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.32% (1 of 315)
midbrain 0.0%
olfactory lobe 0.35% (2 of 576)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 583)
parathyroid gland 0.18% (1 of 564)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.17% (1 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 573)
prostate gland 2.08% (12 of 577)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 581)
small intestine 5.01% (29 of 579)
spinal cord 0.52% (3 of 581)
spleen 0.52% (3 of 580)
stomach 3.61% (21 of 582)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.4% (2 of 143)
testis 1.03% (6 of 581)
thymus 0.17% (1 of 581)
thyroid gland 2.89% (17 of 588)
tongue 3.7% (5 of 135)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 571)
vagina 0.0%
vas deferens 4.75% (18 of 379)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

35 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Cacng2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cacng2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizur... ORPHA:178469

The table below shows human diseases predicted to be associated to Cacng2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myoclonic Epilepsy, Progressive
Generalized myoclonic seizure OMIM:310370
Myoclonic Epilepsy, Hartung Type
Generalized myoclonic seizure OMIM:159600
Mental Retardation, X-Linked 89
Generalized myoclonic seizure OMIM:300848
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:617924
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... OMIM:600669
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Epilepsy, Familial Temporal Lobe, 8
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... OMIM:616461
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:618482
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal impaired awareness seizure, Focal aware seizure OMIM:611631
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Seizures, Benign Familial Infantile, 2
Generalized-onset seizure, Focal-onset seizure OMIM:605751
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Juvenile Absence Epilepsy
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... ORPHA:1941
Perioral Myoclonia With Absences
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:139426
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... ORPHA:307
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, EEG abnormality, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclon... OMIM:617831
Developmental And Epileptic Encephalopathy 19
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, M... OMIM:615744
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... OMIM:615369
Spinocerebellar Ataxia Type 4
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... ORPHA:98765
Developmental And Epileptic Encephalopathy 57
Atypical absence seizure, Generalized myoclonic seizure, Seizure OMIM:617771
Dravet Syndrome
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... OMIM:607208
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, EEG with spike-w... OMIM:618587
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Clumsiness, Focal hemiclo... ORPHA:725
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... ORPHA:139431
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, EEG with spike-wave c... OMIM:607682
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... OMIM:615871
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... OMIM:615400
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Atonic seizure, EEG with spike-wave complexes, Myoclonus, Tremor, Dif... OMIM:614018
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Status epilepticus, Ataxia, Action tremor, EEG abnormality, Focal motor seizure... OMIM:617665
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral to... OMIM:254800
Landau-Kleffner Syndrome
Focal impaired awareness seizure, Focal myoclonic seizure, Slurred speech, Atypical absence seizu... ORPHA:98818
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Generalized myoclonic seizure, Athetosis, Gait disturbance, Hypsarrhythmia, Gene... OMIM:618141
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Myasthenic Syndrome, Congenital, 18
Ataxia, Difficulty walking, Fatigable weakness OMIM:616330
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Ataxia, EEG with spike-wave complexes, Myoclon... OMIM:613855
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, EEG with spike-wave comple... OMIM:619317
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, EEG with ... ORPHA:36387
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Generalized non-motor (absence) seizure, ... ORPHA:98811
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Clumsiness, Inabi... ORPHA:2590
Epilepsy, Familial Temporal Lobe, 6
Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic... OMIM:615697
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Chorea, Bilateral tonic-clonic seizure, Generalized-onse... ORPHA:79137
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... OMIM:614558
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Unst... OMIM:616409
Lennox-Gastaut Syndrome
Atypical absence seizure, EEG abnormality, Atonic seizure, Generalized myoclonic seizure, General... ORPHA:2382
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Glycosylphosphatidylinositol Biosynthesis Defect 15
EEG abnormality, Inability to walk, Atonic seizure, Dysmetria, Myoclonic seizure, Tremor, Gait at... OMIM:617810
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypertonia, Bradykinesia, Limb ataxia, Thalamic calcification, Babinski sign, Parkinsonism, Rigid... OMIM:618824
Myoclonus, Familial, 1
Frequent falls, Myoclonus, Ataxia, Falls OMIM:614937
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Febrile seizur... OMIM:617350
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... OMIM:617113
Dravet Syndrome
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... ORPHA:33069
Autosomal Spastic Paraplegia Type 30
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... ORPHA:101010
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait ataxia ORPHA:94122
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Hydrocephalus, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, EEG abnormality, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral... OMIM:617836
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Truncal ataxia, Unsteady gait OMIM:614063
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Lissencephaly 10
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilate... OMIM:618873
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Hydrocephalus, Hyperactivity, Optic atrophy, Tremor, Spastic ... OMIM:619470
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Myoclonic Epilepsy Of Infancy
Hemiplegia, Generalized myoclonic seizure, EEG with irregular generalized spike and wave complexe... ORPHA:86909
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Inability to walk, Spastic diplegia, Optic atrophy, Hypsarrhythmia OMIM:617830
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Inability to walk OMIM:606053
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Inability to walk, Dystonia, Spastic tetraplegia OMIM:618646
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Intention tremor, Abnormal motor neuron morphology, Head tremor, Abnormality of thal... OMIM:613724
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Epilepsy, Familial Temporal Lobe, 2
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... OMIM:608096
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset seizure OMIM:615476
Developmental And Epileptic Encephalopathy 103
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Continuous sp... OMIM:619913
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Falls, Paroxysmal dyskinesi... OMIM:619150
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Limb ataxia OMIM:617769
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Jerky he... ORPHA:251282
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Difficulty walking, Spasticity, Generalized non-motor (absence) seizure OMIM:618242
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity OMIM:239500
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... ORPHA:98807
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal... OMIM:619157
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Hydroxylysinuria
Generalized myoclonic seizure OMIM:236900
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Facial palsy OMIM:607641
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Seizure OMIM:612691
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, EEG abnormality, Inability to walk, Involuntary movements, Spasticity, Dystonia OMIM:617820
Spinocerebellar Ataxia 35
Torticollis, Loss of ambulation, Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, EEG abnormality, Generalized myoclonic seizure, Hyperkinetic movement... OMIM:271980
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Clumsiness, Inability to walk, T2 hypointense thalamus, EEG with generalized epileptiform... ORPHA:1947
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... OMIM:601764
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Autism
Motor stereotypy, EEG abnormality OMIM:209850
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, EEG abnormality OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, EEG abnormality OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, EEG abnormality OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, EEG abnormality OMIM:608636
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Spastic paraparesis, Parkinsonism, Abnormality of thalamus morphology, Di... ORPHA:397725
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
EEG abnormality, Myoclonus, Babinski sign, T2 hypointense thalamus, Gait disturbance, Apraxia OMIM:618193
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:605021
Carnosinemia
Generalized myoclonic seizure OMIM:212200
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Hyperactivity, EEG with focal epileptiform discharges, Chorea, EEG with general... ORPHA:88616
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
EEG abnormality, Inability to walk, Stereotypical hand wringing, Chorea, Dystonia OMIM:618760
Myoclonic-Astatic Epilepsy
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, EEG with focal spi... ORPHA:1942
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Inability to walk, Hyperkinetic movements, Choreoathet... OMIM:618218
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Truncal ataxia, Dysmetria OMIM:617584
Spinocerebellar Ataxia 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Inability to walk, Atonic seizure, Focal impaired awareness seizure, Generalize... ORPHA:411986
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizur... ORPHA:178469
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Hyperactivity, Inability to walk, Tremor, Spasticity, Low-set ... OMIM:618718
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Hyperactivity, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Clcn4-Related X-Linked Intellectual Disability Syndrome
EEG with focal spikes, Focal tonic seizure, Progressive cerebellar ataxia, Focal impaired awarene... ORPHA:485350
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Ravine Syndrome
Ataxia, Spasticity, Abnormal auditory evoked potentials ORPHA:99852
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic seizure, ... OMIM:619000
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity OMIM:617393
Neuroferritinopathy
Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, T2 hypoin... ORPHA:157846
Bilateral Generalized Polymicrogyria
Motor stereotypy, Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizur... ORPHA:208447
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity DECIPHER:8
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Ataxia, Inability to walk, Spasticity, Generalized myoclonic seizure, EE... ORPHA:168491
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Chorea, ... ORPHA:382
Pyridoxine-Dependent Epilepsy
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... ORPHA:3006
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Generalized-onset seizure, Focal-onset seizure ORPHA:86814
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Rolandic Epilepsy
Atypical absence seizure, Focal hemifacial clonic seizure, EEG with irregular generalized spike a... ORPHA:1945
Benign Occipital Epilepsy
Focal impaired awareness seizure ORPHA:25968
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait disturbance, Limb dysmetria, Tremor, C... ORPHA:363710
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Myoclonus, Rigidity, Optic atrophy, Hearing impairment OMIM:619057
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Infantile Convulsions And Choreoathetosis
Focal impaired awareness seizure, Experiential epileptic aura, Chorea, Athetosis, Complex febrile... ORPHA:31709
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Generalized myoclonic seizure ORPHA:79156
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Ankle clonus, Babinski sign, Spasticity, Spastic tetraplegia OMIM:616657
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, A... ORPHA:101070
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Generalized-onset s... ORPHA:544254
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Atypical absence seizure, Ataxia, Focal impaired awareness seizure, Continuous ... OMIM:619428
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Upper motor neuron dysfunctio... ORPHA:206443
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Motor stereotypy, Loss of ambulation, Clumsiness, Poor fin... ORPHA:79264
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... ORPHA:320401
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ataxia, Dysmetria, Intention tremor, Babinski sign, Bilateral tonic-clonic seizure, Generalized n... OMIM:618170
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Autosomal Dominant Epilepsy With Auditory Features
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Bilater... ORPHA:101046
Lipoid Proteinosis Of Urbach And Wiethe
Generalized non-motor (absence) seizure, Seizure OMIM:247100
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spastic hemiparesis, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Spastic... OMIM:619616
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements ORPHA:71518
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Dilated third ventricle... OMIM:619725
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Sensorineural hearing impairment, Torticollis, Motor stereotypy, Inability to walk, Normal pressu... ORPHA:300570
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor, Spasticity OMIM:300983
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Gai... OMIM:619092
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:607745
3P25.3 Microdeletion Syndrome
Sensorineural hearing impairment, Motor stereotypy, Ataxia, Abnormality of thalamus morphology, A... ORPHA:435638
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Hypertonia, EEG abnormality, Paucity of anterior horn moto... ORPHA:79139
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears OMIM:619717
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis ORPHA:67047
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dyst... OMIM:615924
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Episodic Ataxia Type 4
Frequent falls, Incoordination, Ataxia, Abnormal head movements ORPHA:79136
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia, ... OMIM:616341
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)... OMIM:619854
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Focal impaired awareness seizure, Myoclonus, Cerebral ... OMIM:617600
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor OMIM:618425
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Atypical Rett Syndrome
Loss of ambulation, EEG abnormality, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereo... ORPHA:3095
Developmental And Epileptic Encephalopathy 12
Generalized-onset seizure, Focal-onset seizure OMIM:613722
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, EEG with generalized epileptiform discharges, EEG with frontal epi... ORPHA:363558
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Jerky head mo... ORPHA:157941
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Poor coordination, Di... OMIM:617695
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Spasticity, Abnormal auditory evoked potentials, Progres... OMIM:125250
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Lafora Disease
Status epilepticus, Erratic myoclonus, Ataxia, Inability to walk, Atypical absence seizure, Focal... ORPHA:501
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Gait imbalance, Atypical absence seizure, EEG abnormality, Bilateral tonic-clon... ORPHA:98795
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... ORPHA:284324
Tay-Sachs Disease
Clumsiness, Inability to walk, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Poor ... ORPHA:845
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Clumsiness, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:300558
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Poor coordination OMIM:309548
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy, Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-moto... OMIM:615637
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Normal interictal EEG, Generalized-onset seizure, Paroxysmal choreoathetosis OMIM:602066
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... OMIM:601382
Aceruloplasminemia
Torticollis, Ataxia, Akinesia, Blepharospasm, Limb ataxia, Parkinsonism, Rigidity, Chorea, Cranio... ORPHA:48818
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity, Hypsarrhythmia ORPHA:500545
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:616281
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Ataxia, Inability to walk, Spastic paraparesis, Abnormal pyramidal sign, Distal ... ORPHA:254930
Familial Focal Epilepsy With Variable Foci
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, EEG with focal epileptiform ... ORPHA:98820
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Myoclonus, Positive Romberg sign, Gait ataxia, Abnormal thalamic MR... ORPHA:70595
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity OMIM:612577
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Multifocal epileptiform discha... ORPHA:505652
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait ORPHA:284271
Leigh Syndrome With Cardiomyopathy
Hypertonia, Ataxia, Chorea, Optic atrophy, Abnormality of thalamus morphology, Involuntary moveme... ORPHA:70474
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... ORPHA:280763
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t... OMIM:602433
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity... OMIM:618917
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Abnormal pinna morphology, Ataxia, Hyperactivity, Stereotypical hand wringing, ... OMIM:614104
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Anteverted ears, Hyperactivity, Macrotia OMIM:615541
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Generalized non-motor (absence) seizure, Seizure OMIM:616033
Cln5 Disease
EEG with focal spikes, Ataxia, Poor gross motor coordination, Clumsiness, EEG with spike-wave com... ORPHA:228360
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Acute Disseminated Encephalomyelitis
EEG with focal spikes, Ataxia, Abnormal pyramidal sign, Hemiparesis, Somatic sensory dysfunction,... ORPHA:83597
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Hemiparesis, Unsteady gait OMIM:617542
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... OMIM:609270
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormal pyramidal... ORPHA:157946
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Progressive ... ORPHA:247815
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Myoclonus, ... ORPHA:248111
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Attention deficit hyperactivity disorder, Spastic ataxia OMIM:618906
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, EEG abnormality, Acroparesthesia, Hoffmann sign... ORPHA:206448
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Sensorineural hearing impairment, Ataxia, Focal T2 hyperintense thalamic lesion OMIM:619046
Foxg1 Syndrome
Motor stereotypy, Inability to walk, Myoclonus, Hyperkinetic movements, Stereotypical hand wringi... ORPHA:561854
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Impaired d... ORPHA:99027
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Gen... OMIM:617188
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Myoclonus, Degeneration of anterior horn cells, Fasciculations, Fr... OMIM:159950
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Epilepsy, Familial Focal, With Variable Foci 4
Clonic seizure, Focal impaired awareness seizure, Simple febrile seizure, Bilateral tonic-clonic ... OMIM:617935
Benign Familial Neonatal Epilepsy
Status epilepticus, Generalized tonic seizure, Increased theta frequency activity in EEG, Focal c... ORPHA:1949
Kohlschutter-Tonz Syndrome-Like
Status epilepticus, Ataxia, Inability to walk, Tremor, Focal myoclonic seizure, Spasticity, Hypsa... OMIM:619229
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Gait disturbance, Dystonia OMIM:600795
Liang-Wang Syndrome
Status epilepticus, Ataxia, Generalized non-motor (absence) seizure OMIM:618729
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations OMIM:183050
Rhombencephalosynapsis
Hydrocephalus, Ataxia, Fusion of the left and right thalami, Low-set, posteriorly rotated ears, S... ORPHA:59315
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Autism, Susceptibility To, X-Linked 2
Motor stereotypy, EEG abnormality OMIM:300495
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Status epilepticus, Ataxia, Inability to walk, Pain insensitivity, Tonic seizur... OMIM:300260
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Harel-Yoon Syndrome
Ataxia, Inability to walk, Spasticity, Generalized non-motor (absence) seizure OMIM:617183
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
EEG abnormality, Hyperactivity, Inability to walk, Abnormality of extrapyramidal motor function, ... ORPHA:500180
Rasmussen Subacute Encephalitis
Inability to walk, Focal impaired awareness seizure, Interictal epileptiform activity, EEG with f... ORPHA:1929
Snijders Blok-Campeau Syndrome
Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait, Low-set ears OMIM:618205
Optic Atrophy 11
Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Hyperkinetic movements, Optic atrophy, Macroti... OMIM:617302
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Impaired proprioception, I... ORPHA:101085
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Intellectual Developmental Disorder, Autosomal Dominant 42
Hemiplegia, Status epilepticus, Inability to walk, Focal impaired awareness seizure, Limb hyperto... OMIM:616973
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder OMIM:613670
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Hypsarrhythmia, Macrotia, Hearing impairment OMIM:619877
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Difficulty walking, Gait ataxia, Spas... OMIM:617807
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Motor stereotypy OMIM:619690
Lissencephaly Due To Lis1 Mutation
EEG with changes in voltage, Atypical absence seizure, Focal motor seizure, Atonic seizure, EEG w... ORPHA:95232
Childhood Absence Epilepsy
Typical absence seizure, Jerky head movements, Limb myoclonus, EEG with spike-wave complexes (2.5... ORPHA:64280
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Gait disturbance, EEG with continuous slow activity, Fasciculations, Upper moto... ORPHA:275864
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Hyperactivity, Cerebral palsy, Attention deficit hyperactivity diso... ORPHA:352490
Familial Acute Necrotizing Encephalopathy
Hypertonia, Rigidity, Gait disturbance, Abnormality of thalamus morphology, Spasticity, Spastic t... ORPHA:88619
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity OMIM:612069
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, EEG with generalized slow activity g... ORPHA:79263
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity, Spasticity OMIM:610042
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spinocerebellar Ataxia Type 10
Gait imbalance, Status epilepticus, Focal motor seizure, Progressive cerebellar ataxia, Focal imp... ORPHA:98761
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Xq28 (MECP2) duplication
Motor stereotypy, Inability to walk, Progressive spasticity, Gait ataxia, Macrotia DECIPHER:45
Myoclonic Epilepsy Of Lafora
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... OMIM:254780
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Christianson Syndrome
Motor stereotypy, Truncal ataxia, Gait ataxia, Macrotia, Dystonia ORPHA:85278
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology OMIM:611067
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Tongue fascic... OMIM:601596
Bickerstaff Brainstem Encephalitis
Impaired proprioception, Ataxia, EEG abnormality, Sensory ataxia, Abnormality of the autonomic ne... ORPHA:79138
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Decreased response to growth hormone stimulation test, Hyperkinetic movements, ... ORPHA:457240
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia OMIM:612716
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Ataxia, Hyperactivity, Cerebral palsy, Stereotypical hand wringing, EEG wi... ORPHA:163681
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ataxia, Spastic paraparesis, Generalized myoclonic seizure, Hemiparesis, Lower lim... ORPHA:395
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Hyperactivity, Optic atrophy, Upper motor neuron dysfunction ORPHA:530983
Cach Syndrome
Limb ataxia, Dysmetria, Spastic diplegia, Truncal ataxia, T2 hypointense thalamus, Hemiparesis, O... ORPHA:135
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Hyperactivity, Tremor, Attent... OMIM:618342
Leigh Syndrome
Sensorineural hearing impairment, Ataxia, Spastic diplegia, Abnormality of extrapyramidal motor f... ORPHA:506
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Status epilepticus, Ataxia, Atonic seizure, Recurrent hand flapping, Stereotypi... OMIM:300912
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity OMIM:617691
Rett Syndrome
Motor stereotypy, EEG abnormality, Bradykinesia, Inability to walk, Abnormal autonomic nervous sy... ORPHA:778
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, EEG abnormality, EEG with frontal sharp slow waves, Inability to walk, Generali... ORPHA:457351
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology OMIM:611890
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Low-set ears OMIM:619072
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal thalamic MRI signal intens... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal thalamic MRI signal intens... ORPHA:529799
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Low-set ears, Recurrent hand flapping OMIM:620021
Hyperprolinemia Type 2
Status epilepticus, Atonic seizure, Early onset absence seizures, Distal sensory impairment, Febr... ORPHA:79101
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized-onset se... OMIM:619835
Intellectual Developmental Disorder, Autosomal Recessive 61
EEG abnormality, Hyperactivity, Dysmetria, Babinski sign, Spasticity, Hypsarrhythmia, Clonus, Uns... OMIM:617773
Pyruvate Dehydrogenase E2 Deficiency
Oculomotor apraxia, Ataxia, Choreoathetosis, Jerky head movements OMIM:245348
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormal ... ORPHA:485421
Smith-Magenis Syndrome
Motor stereotypy, EEG abnormality, Hyperactivity, Impaired pain sensation, Morphological abnormal... OMIM:182290
Early Infantile Epileptic Encephalopathy
EEG abnormality, Atonic seizure, EEG with spike-wave complexes, Generalized tonic seizure, Myoclo... ORPHA:1934
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,... ORPHA:98772
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Attention deficit hyperactivity disorder, Hyperactivity, Macrotia OMIM:618504
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Hyperactivity, Resting tremor, Parkinsonism, Tremor, Shuffling gait, Focal EEG ... ORPHA:3077
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Shukla-Vernon Syndrome
Motor stereotypy, Broad-based gait, Attention deficit hyperactivity disorder OMIM:301029
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Focal impaired awareness seizure, Dysmetria, Limb ataxia, I... OMIM:117360
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hydrocephalus, Optic nerve hypoplasia, Abnormal pyramidal sign, Optic ... ORPHA:370959
Epilepsy, Familial Adult Myoclonic, 2
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... OMIM:607876
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Nicolaides-Baraitser Syndrome
Status epilepticus, Epileptic spasm, Generalized non-motor (absence) seizure, Seizure ORPHA:3051
Oculocerebrodental Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hearing impairment, Abnormality ... ORPHA:557003
Angelman Syndrome
Broad-based gait, Status epilepticus, Ataxia, EEG abnormality, Recurrent hand flapping, Inability... ORPHA:72
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
EEG abnormality, Recurrent hand flapping, Macrotia OMIM:617268
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, EEG with focal spikes, Interictal epileptiform activity, Increased theta freque... ORPHA:98784
Primary Lateral Sclerosis
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology ORPHA:35689
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Hyperactivity, Optic atrophy, Lethargy, Tetraplegia OMIM:274270
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Inability to walk, Recurrent hand flapping, Opisthotonus, Limb hyperton... OMIM:619580
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Abnormal audito... OMIM:601455
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, EEG abnormality, Recurrent hand flapping, Hyperactivity... ORPHA:98794
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Low-set ears, Attention deficit hyperactivity disorder ORPHA:404440
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hy... OMIM:619121
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology OMIM:263570
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypertonia, Atonic seizure, Generalized myoclonic seizure, Epileptic spasm, Athetosis, Bilateral ... ORPHA:79351
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Hydranencephaly
Infantile sensorineural hearing impairment, Atrophic pituitary gland, Opisthotonus, Optic nerve h... ORPHA:2177
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Intellectual Developmental Disorder, Autosomal Dominant 22
Agenesis of corpus callosum, Stereotypical hand wringing, Generalized non-motor (absence) seizure... OMIM:612337
Chromosome Xp11.23-P11.22 Duplication Syndrome