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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Cacng2tm1b(KOMP)Mbp HOM   Early adult 0.00

Download data as:  TSV  XLS

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

35 Images

X-ray

XRay Images Whole Body Dorso Ventral

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Myoclonic Epilepsy, Hartung Type
Generalized myoclonic seizure OMIM:159600
Myoclonic Epilepsy, Progressive
Generalized myoclonic seizure OMIM:310370
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) 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
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:616685
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, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... OMIM:617924
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
Intellectual Developmental Disorder, X-Linked 89
Generalized myoclonic seizure OMIM:300848
Epilepsy, Familial Temporal Lobe, 3
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure OMIM:611630
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613863
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:616172
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure OMIM:611631
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... OMIM:300088
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure OMIM:618596
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized non-motor (ab... OMIM:618482
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... ORPHA:1941
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Status ... ORPHA:307
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Status epilepti... OMIM:615744
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
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta... OMIM:615369
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... OMIM:607208
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... OMIM:618357
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awareness seizure, Visually-i... OMIM:614417
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... OMIM:620115
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... ORPHA:139431
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Myoclonic seizure, Seizure, EEG abnormality, Generalized myoclonic seizure, Ataxia, ... OMIM:617831
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Atonic seizure, ... OMIM:616056
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic... OMIM:618396
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Focal motor seizure, EEG abnormality, EEG with polyspike wave complex... OMIM:617665
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Developmental And Epileptic Encephalopathy 57
Seizure, Generalized myoclonic seizure, Tonic seizure, Epileptic spasm, Atypical absence seizure OMIM:617771
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Hypsarrhythmia, Generalized myoclonic seizure, Recurrent hand flapping, Gait dis... OMIM:618141
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Continuous Spikes And Waves During Sleep
EEG with centrotemporal focal spike waves, Typical absence seizure, Seizure, Focal motor seizure,... ORPHA:725
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, EEG with polyspike wave complexes, Tr... OMIM:618587
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:101039
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Poor fine motor coordination, Gene... ORPHA:36387
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Ataxia, Loss of ambulation, Bilateral tonic-clonic seizu... OMIM:614018
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Ataxia, Bilateral... OMIM:254800
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:615697
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Atonic seizure, Genera... OMIM:616421
Spastic Paraplegia 72, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... OMIM:615625
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Landau-Kleffner Syndrome
Generalized clonic seizure, Interictal EEG abnormality, EEG with temporal focal spikes, Focal imp... ORPHA:98818
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... OMIM:613855
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Developmental And Epileptic Encephalopathy 13
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:614558
Dravet Syndrome
Poor fine motor coordination, Generalized clonic seizure, Epilepsia partialis continua, Focal-ons... ORPHA:33069
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Developmental And Epileptic Encephalopathy 6B
Chorea, Myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Inability to walk, Focal-onse... OMIM:619317
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:79137
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604352
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:617350
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Lennox-Gastaut Syndrome
Generalized tonic seizure, Falls, EEG abnormality, Focal-onset seizure, Myoclonus, Generalized my... ORPHA:2382
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Hypsarrhythmia, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Infant... OMIM:617113
Paroxysmal Exertion-Induced Dyskinesia
Chorea, Paresthesia, Seizure, Choreoathetosis, Ataxia, Paroxysmal dyskinesia, Lower limb spastici... ORPHA:98811
Lissencephaly 10
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:618873
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Hypsarrhythmia, Incoordination, Bilateral to... OMIM:616409
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Focal sensory seizure, Generalized-onset seizure, Infantile spasms OMIM:602066
Glycosylphosphatidylinositol Biosynthesis Defect 15
Gait ataxia, Myoclonic seizure, Spasticity, Inability to walk, EEG abnormality, Apraxia, Dysmetri... OMIM:617810
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... OMIM:608096
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Typical absence seizure, Seizure, Inability to walk, Eyelid myoclonus, Clumsiness... ORPHA:2590
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Difficulty walking, Oromandibular dystonia, Compulsive behaviors ORPHA:397725
Hydroxylysinuria
Generalized myoclonic seizure OMIM:236900
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure OMIM:613886
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Rigidity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure,... OMIM:617836
Spinocerebellar Ataxia Type 23
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... ORPHA:101108
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... ORPHA:251282
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... OMIM:601764
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Myo... ORPHA:86909
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... ORPHA:98807
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Focal impaired awareness seizure, Bilatera... OMIM:615400
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Focal-onset seizure, Interictal epileptiform activity, Bilateral toni... OMIM:619157
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Carnosinemia
Generalized myoclonic seizure OMIM:212200
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... OMIM:616053
Developmental And Epileptic Encephalopathy 99
Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... OMIM:619606
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Continuous spike and waves during slow sleep, EEG with polyspike wave complexe... OMIM:619913
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Spasticity, Seizure, Focal motor seizure, Hypsarrhythmia, Multifocal epileptif... OMIM:617711
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Guanidinoacetate Methyltransferase Deficiency
Chorea, Seizure, Abnormal head movements, Abnormality of extrapyramidal motor function, Generaliz... ORPHA:382
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Ataxia, Hypoesthesia, Dysmetria, Thalamic calcification, Dysphagia, Dystonia, Bradykinesia OMIM:618317
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... ORPHA:208447
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Developmental And Epileptic Encephalopathy 60
Myoclonic seizure, Seizure, Inability to walk, Spastic tetraplegia, EEG with burst suppression, H... OMIM:617929
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, Seizure, EEG with focal spikes, Myoclonus, Focal tonic seizure, Upper limb spasticity, Co... ORPHA:485350
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... OMIM:612691
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus ORPHA:86814
Developmental And Epileptic Encephalopathy 97
Hypsarrhythmia, Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Succinic Semialdehyde Dehydrogenase Deficiency
Seizure, EEG abnormality, Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral to... OMIM:271980
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure OMIM:612621
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Abnormal head movements, Ataxia ORPHA:71518
Isolated Focal Cortical Dysplasia
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Seizure, Focal-onset ... ORPHA:65683
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Inability to walk, Hypsarrhythmia, Myoclonus, Multifocal epileptiform ... ORPHA:411986
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Ataxia, Babinski sign, Difficulty walking, Generalized non-motor (absence) seizure OMIM:618242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Developmental And Epileptic Encephalopathy 109
Gait ataxia, Myoclonic seizure, Spasticity, Typical absence seizure, Crouch gait, Myoclonus, Foca... OMIM:620145
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements, Involuntary movements OMIM:616939
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Myoclonic-Astatic Epilepsy
Abnormal pyramidal sign, EEG with polyspike wave complexes, Focal-onset seizure, Generalized myoc... ORPHA:1942
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Developmental And Epileptic Encephalopathy 18
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... OMIM:615476
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Increased theta frequency activity in EEG, EEG with polyspike wave complexes, ... OMIM:619000
Benign Occipital Epilepsy
Focal impaired awareness seizure ORPHA:25968
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Generalized myoclonic seizure ORPHA:79156
Developmental And Epileptic Encephalopathy 104
Seizure, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness ... OMIM:619970
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... OMIM:613908
Fraxe Intellectual Disability
Hyperactivity, Recurrent hand flapping, Agitation, Compulsive behaviors, Prominent ear helix, Imp... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism OMIM:615493
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, EEG with series of focal spikes, Inability to walk, Focal-onset seizure, Atoni... ORPHA:168491
Episodic Ataxia Type 4
Abnormal head movements, Incoordination, Ataxia, Frequent falls ORPHA:79136
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Falls, EEG abnormality, Ataxia, Dystonia, Bruxism OMIM:619150
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism ORPHA:356996
Pyridoxine-Dependent Epilepsy
Seizure, EEG with generalized epileptiform discharges, Focal-onset seizure, Hypsarrhythmia, EEG w... ORPHA:3006
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... ORPHA:101046
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb dystonia, Limb ataxia, Thalamic calcification, Generalized dystonia, Bradykinesia OMIM:618824
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Focal impaired a... OMIM:607745
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Gait ataxia, EEG with generalized epileptiform discharges, Inability to walk, T2 hypointense thal... ORPHA:1947
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, EEG abnormality, Inability to walk, Stereotypical hand wringing, Dystonia OMIM:618760
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Recurrent hand flapping, Hand tremor, Dysphagia, Broad-based gait OMIM:617862
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Poor coordination, Recurrent hand flapping, Gait disturbance, Ataxia, ... ORPHA:544254
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Torticollis, Abnormal motor neuron morphology, Head tremor, I... OMIM:613724
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Generalized myoclonic seizure, Atonic seizure, Bilateral tonic-... ORPHA:101070
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms... OMIM:619616
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... OMIM:616948
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Dystonia, Inability to walk, Decreased thalamic volume OMIM:618646
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... ORPHA:423275
Developmental And Epileptic Encephalopathy 110
Chorea, Spasticity, Bruxism, Focal impaired awareness hemiclonic seizure, Pain insensitivity, Con... OMIM:620149
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Recurrent hand flapping, Impulsivity, Low-set ears, Posteriorly rotated ears OMIM:619717
Huntington Disease-Like 1
Gait ataxia, Poor fine motor coordination, Chorea, Abnormal head movements, Weight loss, Clumsine... ORPHA:157941
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
3P25.3 Microdeletion Syndrome
Sensorineural hearing impairment, Abnormality of thalamus morphology, Ataxia, Abnormal repetitive... ORPHA:435638
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Abnormal repetitive mannerisms, Loss of ambulation, Focal T2 hyperint... ORPHA:79264
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Disinhibition, Gait disturbance, T2 hypointense thalamus, EEG abnormality OMIM:618193
New-Onset Refractory Status Epilepticus
EEG with frontal epileptiform discharges, EEG with generalized epileptiform discharges, Abnormal ... ORPHA:363558
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Hydrocephalus, Ataxia, Dysphagia ORPHA:363717
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Dysmetria, Multifocal seizures, T... OMIM:618170
Infantile Convulsions And Choreoathetosis
Chorea, Seizure, Focal-onset seizure, Choreoathetosis, Complex febrile seizure, Paroxysmal dyskin... ORPHA:31709
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Sensorineural hearing impairment, Normal pressure hydrocephalus, Inability to walk, Spastic ataxi... ORPHA:300570
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure with focal onset, EEG with occipital epileptiform discharges, Seiz... OMIM:619428
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, EEG abnormality, Tremor, Low-set ears, Bruxism OMIM:618718
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Head titubation, Frequ... OMIM:611302
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Stereotypical hand wringing, Bilateral tonic-clonic seizure, Focal impaired awareness se... OMIM:619854
Huntington Disease-Like 3
Chorea, Spasticity, Abnormal pyramidal sign, Extrapyramidal dyskinesia, Abnormal head movements, ... ORPHA:157946
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Abnormal head movements, Truncal ataxia, Progressive gait ataxia, Oculom... ORPHA:247815
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Multifocal epileptiform discharges, Gait disturbance, Impaired pain ... ORPHA:505652
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, EEG with focal epilepti... ORPHA:98795
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Familial Focal Epilepsy With Variable Foci
Paresthesia, Focal-onset seizure, Deja vu aura, Focal aware seizure, Interictal EEG abnormality, ... ORPHA:98820
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Optic atrophy, Limb dystonia, Gait disturbance, Compulsive behaviors, Focal dystonia, Tre... ORPHA:216873
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment, Inability to walk, Stereotypical hand wringing, Choreoathetosis, D... OMIM:618497
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Recurrent hand flapping, Agitation, Impulsivity, Stereotypical body rocking OMIM:309548
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Distal sensory im... OMIM:601382
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Tubulinopathy-Associated Dysgyria
Attention deficit hyperactivity disorder, Abnormality of thalamus morphology, Ataxia ORPHA:467166
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Myoclonic seizure, Cerebral palsy, Myoclonus, Recurrent hand flapping, Bilateral tonic-cl... OMIM:617600
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... OMIM:602433
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:616281
Cln5 Disease
Generalized-onset seizure, Spasticity, Seizure, Dysdiadochokinesis, Inability to walk, Truncal at... ORPHA:228360
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Lafora Disease
Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Spasticity, Seizure, Inabilit... ORPHA:501
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Christianson Syndrome
Gait ataxia, Macrotia, Truncal ataxia, Abnormal repetitive mannerisms, Dysphagia, Dystonia ORPHA:85278
Benign Familial Neonatal Epilepsy
Limb myoclonus, Generalized tonic seizure, Focal-onset seizure, Focal clonic seizure, Status epil... ORPHA:1949
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears OMIM:618147
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormal repetitive mannerisms, EEG with continuous slow activity, Disinhibitio... ORPHA:275864
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Inability to walk, Stereotypical hand wringing, EEG abnormality, Oculogyric crisis, Dysto... OMIM:614254
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Low-set ears, Attention deficit hyperactivity disorder, Abnormality of thalamus morphology, Compu... ORPHA:404440
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Developmental And Epileptic Encephalopathy 42
Myoclonic seizure, EEG abnormality, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-c... OMIM:617106
Myoclonic Epilepsy, Familial Infantile
Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset ... OMIM:605021
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Neuroferritinopathy
Chorea, Blepharospasm, Resting tremor, Writer's cramp, T2 hypointense thalamus, Leg dystonia, Foc... ORPHA:157846
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Sensor... ORPHA:52368
Foxg1 Syndrome
Inability to walk, Stereotypical hand wringing, Choreoathetosis, Abnormal repetitive mannerisms, ... ORPHA:561854
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Bilateral sensorineural hearing impairment, Choreoathetosis, Ataxia, Tremor, Dysph... OMIM:619422
Kohlschutter-Tonz Syndrome-Like
Generalized clonic seizure, Inability to walk, Lateral ventricle dilatation, Focal-onset seizure,... OMIM:619229
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apr... ORPHA:240103
Intellectual Developmental Disorder, X-Linked 30
Seizure, Clumsiness, Hydrocephalus, Bilateral tonic-clonic seizure, Generalized non-motor (absenc... OMIM:300558
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Sensorineural hearing impairment, Abnormality of somatosensory evoke... ORPHA:320401
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Difficulty walking, Abnormal repetitive mannerisms, Waddling gait ORPHA:280763
Intellectual Developmental Disorder, Autosomal Recessive 57
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Seizure... OMIM:617188
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Chorea, Seizure, Inability to walk, Progressive spasticity, Rigidity, Bruxism, Repetitive compuls... OMIM:300260
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Rett Syndrome
Inability to walk, Stereotypical hand wringing, EEG abnormality, Abnormal autonomic nervous syste... ORPHA:778
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Atypical Rett Syndrome
Gait ataxia, Inability to walk, Stereotypical hand wringing, EEG abnormality, Gait disturbance, A... ORPHA:3095
Spermatogenic Failure 17
Male infertility OMIM:617214
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Epilepsy, Familial Focal, With Variable Foci 4
Focal-onset seizure, Clonic seizure, Simple febrile seizure, Bilateral tonic-clonic seizure, Foca... OMIM:617935
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behavio... ORPHA:352490
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Inability to walk, Focal-onset seizure, Atonic seizure, Focal impaired awarene... OMIM:616973
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Macrotia, Bradykinesia, Shuffling gait, Resting tremor, Spastic gait, Choreoathetos... OMIM:300055
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology OMIM:611067
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Hearing impairment, Optic atrophy OMIM:619057
Harel-Yoon Syndrome
Ataxia, Spasticity, Generalized non-motor (absence) seizure, Inability to walk OMIM:617183
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Cervical spinal c... ORPHA:35689
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure with focal onset, Focal sensory seizure with visual features, Myoc... OMIM:254780
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
Japanese Encephalitis
Abnormality of thalamus morphology, EEG abnormality, Paucity of anterior horn motor neurons, Faci... ORPHA:79139
Combined Oxidative Phosphorylation Defect Type 7
Inability to walk, Optic atrophy, Ataxia, Facial diplegia, Impaired tandem gait, Abnormal thalami... ORPHA:254930
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ataxia, Sensorineural hearing impairment, Focal T2 hyperintense thalamic lesion, Agitation OMIM:619046
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Ataxia OMIM:618729
Periventricular Nodular Heterotopia 7
Seizure, Hypsarrhythmia, Ataxia, Infantile spasms, Generalized non-motor (absence) seizure OMIM:617201
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity, Optic atrophy, Abnormal repetitive mannerisms ORPHA:530983
Optic Atrophy 11
Hyperactivity, Macrotia, Gait apraxia, Optic atrophy, Ataxia, Optic nerve hypoplasia, Facial dipl... OMIM:617302
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Agitation, Tremor, Dysphagia, Unsteady gait, Dystonia, Bruxism OMIM:617435
Cach Syndrome
Optic atrophy, Truncal ataxia, Limb ataxia, T2 hypointense thalamus, Dysmetria, Dysphagia ORPHA:135
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... OMIM:125250
Lissencephaly Due To Lis1 Mutation
Generalized tonic seizure, Seizure, Focal motor seizure, Opisthotonus, Hypsarrhythmia, Generalize... ORPHA:95232
Fragile X Syndrome
Recurrent hand flapping, Macrotia, Hyperactivity, Abnormal head movements OMIM:300624
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Facial diplegia, Abnormal anterior horn cell morphology OMIM:611890
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Low-set ears, Decreased thalamic volume OMIM:619072
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Hydrocephalus, Tremor, Broad-based gait OMIM:619470
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Macrotia, Decreased response to growth hormone stimulation test, Gait disturbance, Abnormal repet... ORPHA:457240
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Spasticity, Seizure, Inability to walk, EEG abnormality, Limb ... ORPHA:457351
Leigh Syndrome With Cardiomyopathy
Chorea, Abnormality of thalamus morphology, Optic atrophy, Ataxia, Dysphagia, Dystonia, Hearing i... ORPHA:70474
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Intellectual Developmental Disorder, X-Linked 98
Stereotypical hand wringing, Hypsarrhythmia, Generalized myoclonic seizure, Recurrent hand flappi... OMIM:300912
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Seizure, Focal-onset seizure, Hemiparesis, Generalized myoclonic seizure, Hydrocephalus, Gait dis... ORPHA:395
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy, Ataxia, Tremor, Abnormal pinna morphology OMIM:300983
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Bruxism OMIM:300434
Hyperprolinemia Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Seizure... ORPHA:79101
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
Spinocerebellar Ataxia Type 10
Gait ataxia, Generalized-onset seizure, Gait imbalance, Focal motor seizure, Dysdiadochokinesis, ... ORPHA:98761
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Poor fine motor coordination, Generalized-onset seizure, EEG with generalized slow activi... ORPHA:79263
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Impaired tactile sensati... ORPHA:206443
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Hydrocephalus, Ataxia, Fusion of the left and right... ORPHA:59315
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Abnormal vestibular function, Positive Romberg sign, Abnormal thalamic MRI signal in... ORPHA:70595
2Q23.1 Microdeletion Syndrome
Ataxia, Hyperactivity, Polyphagia, Abnormal repetitive mannerisms ORPHA:228402
Spermatogenic Failure 25
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... OMIM:617960
Oculoskeletodental Syndrome
Abnormality of thalamus morphology, Conductive hearing impairment, Sensorineural hearing impairme... ORPHA:557003
Nicolaides-Baraitser Syndrome
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:3051
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure,... OMIM:613839
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Action tremor,... ORPHA:99027
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
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:1934
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Recurrent hand flapping, Attention deficit hyperactivity disorder OMIM:620021
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Hyperprolinemia, Type I
Hyperactivity, Ataxia, EEG abnormality OMIM:239500
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Gait disturbance, Decreased nerve conduction velocity, Dista... OMIM:601455
Tay-Sachs Disease
Exaggerated startle response, Inability to walk, Optic atrophy, Gait disturbance, Dysmetria, Trem... ORPHA:845
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Increased theta frequency activity in EEG, EEG with focal spikes, Interictal... ORPHA:98784
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
3-Methylglutaconic Aciduria, Type Viia
Myoclonic seizure, Generalized-onset seizure, Atypical absence seizure, Bilateral tonic-clonic se... OMIM:619835
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Unsteady gait, Hydrocephalus, Fusion of the left and right thalami OMIM:617542
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Macrotia, Stereotypical hand wringing ORPHA:397933
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Pica, EEG abnormality, Recurrent hand flapping, Low-set ears, Unsteady gait OMIM:618480
48,Xxyy Syndrome
Ataxia, Abnormal repetitive mannerisms, Tremor, Attention deficit hyperactivity disorder, Chronic... ORPHA:10
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Angelman Syndrome
Seizure, Inability to walk, EEG abnormality, Myoclonus, Generalized myoclonic seizure, Status epi... ORPHA:72
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Choreoathetosis, Ataxia, Generalized dystonia, Dystonia, Jerky head movements OMIM:245348
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure ORPHA:576283
Aceruloplasminemia
Gait ataxia, Chorea, Blepharospasm, Akinesia, Torticollis, Limb ataxia, Ataxia, Tremor, Abnormal ... ORPHA:48818
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Gait imbalance, EEG abnormality, Recurrent hand flapping, Ataxia, EEG with abnorma... ORPHA:98794
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia OMIM:618110
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping, Macrotia, EEG abnormality OMIM:617268
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure, EEG abnormality OMIM:300801
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Somatic sensory dysfunction, Sensorineural hearing impairment, Paresthesia, Inabilit... ORPHA:101085
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, EEG abnormality, Hypsarrhythmia, Abnormal thalamic MRI signal intensity, Decreased... ORPHA:485421
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Sensorineural he... ORPHA:95513
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Abnormal autonomic nervous system physiology, Recurrent hand flapping, Gait disturbance, Agitatio... OMIM:617903
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Macrotia, Stereotypical hand wringing, Gait disturbance, Ataxia, Abnormal pinna mo... OMIM:614104
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Stereotypical hand wringing, Bruxism, Agenesis of corpus callosum, Generalized non-motor... OMIM:612337
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Paresthesia, Progressive sensorineural hearing impairment, Br... ORPHA:2959
Microphthalmia-Brain Atrophy Syndrome
Generalized-onset seizure, Spasticity, Lateral ventricle dilatation, Generalized myoclonic seizur... ORPHA:77299
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Spasticity, Hypogonadism, Spastic tetraplegia, Generalized... ORPHA:79351
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Sensorineural hearing impairment, Bruxism, Tremor, Attention deficit hyperactivity... OMIM:618342
Angelman Syndrome Due To A Point Mutation
Gait imbalance, EEG abnormality, Recurrent hand flapping, Ataxia, Tongue thrusting, Abnormal eati... ORPHA:411511
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Ataxia, Lethargy, Abnormal repetitive mannerisms ORPHA:927
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Myoclonic seizure, Ankle clonus, Seizure, Multifocal epileptiform discharges, Ataxia, Babinski si... OMIM:615398
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
4Q21 Microdeletion Syndrome
Low-set ears, Tremor, Hearing impairment, Abnormal repetitive mannerisms ORPHA:238750
Acute Disseminated Encephalomyelitis
Somatic sensory dysfunction, EEG with focal slow activity, EEG with focal spikes, Interictal EEG ... ORPHA:83597
Leigh Syndrome
Chorea, Macrotia, Sensorineural hearing impairment, Optic atrophy, Hypsarrhythmia, Choreoathetosi... ORPHA:506
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Neurogenic bladder, Optic nerve hypoplasia, Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Spinocerebellar Ataxia 29
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Broad-based gait, Truncal titubation, Impaired tand... OMIM:117360
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Difficulty walking, Abnormal cranial nerve morphology,... OMIM:601596
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Focal-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal on... OMIM:618354
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Gait ataxia, Chorea, Inability to walk, Stereotypical hand wringing, Dystonia OMIM:618917
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, EEG with generalized epileptiform discharges, Stereotypical hand wringing, EEG wit... ORPHA:163681
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology OMIM:263570
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Intellectual Developmental Disorder With Autism And Macrocephaly
Recurrent hand flapping, Posteriorly rotated ears, Pica OMIM:615032
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Hypoplastic helices, EEG abnormality, Abnormality of the ear, Repetitive compulsive behavior, Rec... ORPHA:391372
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cranial nerve compression, Abnormal motor neuron morphology, Amyotrophic lateral sclerosis ORPHA:52430
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Chorea, Hyperactivity, Inability to walk, EEG abnormality, Impaired pain sensation, ... ORPHA:500180
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria, Tremor OMIM:618090
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms ORPHA:391307
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Tics, Obsessive-compulsive trait, Lower limb spasticity, Generalized non-motor (absence) seizure ORPHA:363686
Juvenile Huntington Disease
Gait ataxia, Chorea, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Dystonia, Broad-based ... ORPHA:248111
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Rett Syndrome
Gait ataxia, Gait apraxia, EEG abnormality, Stereotypical hand wringing, Truncal ataxia, Dystonia... OMIM:312750
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Decreased nerve conduction velocity, Abnormal lower motor... OMIM:606070
Bickerstaff Brainstem Encephalitis
EEG abnormality, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous ... ORPHA:79138
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Truncal ataxia, Recurrent hand flapping, Limb ataxia, Broad-based gait, Low-set ears, Cupped ear,... OMIM:617101
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:105400
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:319671
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Unsteady gait, Hyperactivity OMIM:615516
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:301091
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:313892
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology ORPHA:275872
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Sensorineural he... ORPHA:95512
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, EEG abnormality, Ataxia, Abnormal repetitive mannerisms, Protru... ORPHA:2479
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Pica, Hyperactivity, Tics, Ataxia, Tongue thrusting, Stereotypical body rocking, Unsteady gait, B... OMIM:617865
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia ORPHA:276183
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Macrocephaly-Developmental Delay Syndrome
EEG with generalized slow activity, Abnormal speech discrimination, Abnormal repetitive mannerisms ORPHA:397612
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Abnormal repetitive mannerisms ORPHA:3306
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Repetitive compulsive behavior, Compulsive behaviors, Optic nerve hypoplasia, Atte... ORPHA:401777
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470