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Gene: Dlg4 MGI:1277959

Gene Summary

Name:

discs large MAGUK scaffold protein 4

Synonyms:

PSD95, SAP90, PSD-95, Dlgh4, SAP90A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
decreased grip strength	Dlg4^{tm1e(EUCOMM)Wtsi}	HOM	Early adult	3.58×10^-08
increased circulating sodium level	Dlg4^{tm1e(EUCOMM)Wtsi}	HOM	Early adult	4.56×10^-06
decreased body weight	Dlg4^tm1Grnt	HOM	Early adult	1.55×10^-08
decreased total body fat amount	Dlg4^{tm1e(EUCOMM)Wtsi}	HOM	Early adult	5.30×10^-05
decreased bone mineral content	Dlg4^tm1Grnt	HOM	Early adult	5.70×10^-05
decreased exploration in new environment	Dlg4^tm1Grnt	HOM	Early adult	6.95×10^-14
abnormal behavior	Dlg4^tm1Grnt	HOM	Early adult	6.65×10^-07
decreased locomotor activity	Dlg4^tm1Grnt	HOM	Early adult	6.30×10^-05
increased bone mineral content	Dlg4^{tm1e(EUCOMM)Wtsi}	HOM	Early adult	5.89×10^-05
tremors	Dlg4^{tm1e(EUCOMM)Wtsi}	HOM	Early adult	7.27×10^-09
decreased total body fat amount	Dlg4^tm1Grnt	HOM	Early adult	1.11×10^-05
increased lean body mass	Dlg4^{tm1e(EUCOMM)Wtsi}	HOM	Early adult	4.46×10^-06

Download data as: TSV XLS

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lacZ Expression

Expression data not available

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

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Anti-nuclear antibody assay

Images

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Dlg4^tm1Grnt
head, WT, Female, WTSI

Dlg4^tm1Grnt
body, WT, Female, WTSI

Dlg4^tm1Grnt
body, HOM, Female, WTSI

View all 263 images

Dlg4^tm1Grnt
back skin, HOM, Female, WTSI

Dlg4^tm1Grnt
tail skin, WT, Female, WTSI

Dlg4^tm1Grnt
abnormal sebaceous gland morphology, tail skin, HOM, Female, WTSI

Dlg4^tm1Grnt
tail skin, WT, Female, WTSI

Dlg4^{tm1e(EUCOMM)Wtsi}
synechia, HOM, Female, WTSI

Dlg4^{tm1e(EUCOMM)Wtsi}
corneal opacity, HOM, Female, WTSI

Human diseases caused by Dlg4 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.

Human diseases associated with Dlg4 (1 diseases)
Human diseases predicted to be associated with Dlg4 (573 diseases)

The table below shows human diseases associated to Dlg4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder, Autosomal Dominant 62			OMIM:618793

The table below shows human diseases predicted to be associated to Dlg4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi...	OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Chromosome 15Q11-Q13 Duplication Syndrome	Increased serum serotonin, Impaired ability to form peer relationships, Restrictive behavior, Inf...	OMIM:608636
Autism, Susceptibility To, 20	Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity	OMIM:618830
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
N-Acetylaspartate Deficiency	Broad-based gait, Short attention span, Self-mutilation, Decreased body weight, Truncal ataxia, U...	OMIM:614063
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Pandas	Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi...	ORPHA:66624
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Pudendal Neuralgia	Scrotal pain, Paroxysmal rectal pain, Neuralgia, Vulvodynia, Pelvic pain, Anal pain, Allodynia	ORPHA:60039
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Tremor, Babinski sign, Ataxia, Flexion contracture	OMIM:611105
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati...	ORPHA:309169
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit...	ORPHA:275864
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia, Failure to thrive	OMIM:143860
Trigeminal Neuralgia	Trigeminal neuralgia, Ocular pain, Mandibular pain, Allodynia	ORPHA:221091
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608631
Progressive Supranuclear Palsy	Blepharospasm, Memory impairment, Falls, Depression, Emotional lability, Tremor, Irritability, Dy...	ORPHA:683
Hyperphenylalaninemia, Bh4-Deficient, D	Transient hyperphenylalaninemia, Hypertonia, Tremor, Hyperphenylalaninemia	OMIM:264070
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia	OMIM:617018
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Autism, Susceptibility To, 8	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:607373
Autism	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:209850
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Motor stereotypy, Reduced social reciprocity	OMIM:606053
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia	OMIM:618709
Tremor, Hereditary Essential, 6	Kinetic tremor, Postural tremor, Head tremor, Vocal tremor	OMIM:618866
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Memory impairment, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, ...	OMIM:600795
Foxg1 Syndrome	Difficulty walking, Bruxism, Inability to walk, Reduced social reciprocity, Stereotypical hand wr...	ORPHA:561854
Pick Disease Of Brain	Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotemporal dementia, Emotion...	OMIM:172700
Complex Regional Pain Syndrome	Limb pain, Allodynia	ORPHA:83452
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinson...	ORPHA:521406
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Cerebral palsy, Hypertonia, Hypernatremia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Cerebral palsy, Hypertonia, Hypernatremia	ORPHA:529808
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Glucose-Galactose Malabsorption	Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia	ORPHA:35710
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Falls, Bruxism, Chorea, Inappropriate laughter, Aggressive behavior, Ataxia, Dystonia, Motor ster...	OMIM:619150
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig...	ORPHA:101110
Childhood Disintegrative Disorder	Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a...	ORPHA:168782
Spinocerebellar Ataxia 40	Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In...	OMIM:616053
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Anterior Cutaneous Nerve Entrapment Syndrome	Abdominal pain, Back pain, Allodynia	ORPHA:51890
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Neuroleptic Malignant Syndrome	Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Extrapyramidal muscular rigidity, Chorea, H...	ORPHA:94093
Spinocerebellar Ataxia Type 31	Spasticity, Gait ataxia, Tremor	ORPHA:217012
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,...	OMIM:613670
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus	OMIM:616921
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Inability to walk, Reduced social reciprocity, Dystonia, Motor stereotypy	OMIM:617820
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Hyperammonemia, Tremor, Hyperglutamatemia, Hyperp...	ORPHA:3008
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig...	OMIM:607317
Spinal Muscular Atrophy, Jokela Type	Elevated circulating creatine kinase concentration, Tremor, Fasciculations	OMIM:615048
Spinocerebellar Ataxia 37	Frequent falls, Tremor, Ataxia	OMIM:615945
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypernatremia	OMIM:304800
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Ataxia	OMIM:616949
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Frequent falls, Hemiballismus, Tremor	ORPHA:494526
Hsd10 Disease	Short attention span, Tremor, Gait disturbance, Ataxia, Dysphagia, Choreoathetosis, Abnormal soci...	ORPHA:391417
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior, Hyperactivity	ORPHA:436151
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Ataxi...	OMIM:615924
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Abnorm...	OMIM:213600
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype...	OMIM:615751
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Hand tremor, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy	OMIM:617862
Hyperkalemic Periodic Paralysis	Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Elevated circulating creatine ki...	ORPHA:682
Multiple Mitochondrial Dysfunctions Syndrome 7	Myoclonus, Hyperglycinemia, Ankle clonus, Hypertonia, Exaggerated startle response, Dystonia, Hyp...	OMIM:620423
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia	OMIM:615957
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Webb-Dattani Syndrome	Obesity, Hypernatremia, Spasticity	OMIM:615926
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Dystonia, Myoclonus, Ataxia	ORPHA:163921
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Chorea, Cognitive impairment, Exaggerated...	ORPHA:309246
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ...	ORPHA:216873
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Dystonia, Myoclonus, Failure to thrive, Tremor	OMIM:619651
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Overweight, Motor stereotypy	OMIM:620065
Spinal Cord Injury	Allodynia	ORPHA:90058
Benign Schwannoma	Pain, Allodynia	ORPHA:252164
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Dementia, Abdominal pain, Abdominal cramps, Allodynia	OMIM:603041
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300425
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy...	ORPHA:251282
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida...	ORPHA:98762
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Increased intramuscular fat, Tremor, Elevated circulating ...	ORPHA:276435
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis	OMIM:617270
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Failure to thrive, Hypernatremia	OMIM:615508
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
11Q22.2Q22.3 Microdeletion Syndrome	Obesity, Short attention span, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab...	ORPHA:444002
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia	OMIM:616187
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl...	ORPHA:314632
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Depression, Resting tremor, Limb ataxia, Gait ataxia, Dysmetria, Reduced social reciprocity, Dyst...	OMIM:615157
Nephrogenic Diabetes Insipidus	Failure to thrive, Hypernatremia	ORPHA:223
Dystonia 28, Childhood-Onset	Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli...	OMIM:617284
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, De...	OMIM:617695
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia	OMIM:615768
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T...	ORPHA:99657
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi...	ORPHA:3077
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	OMIM:610600
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Aggressive behavior, Motor stereotypy, Emotional lability, Agitation	OMIM:617171
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	OMIM:203400
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Cachexia, Parkinsonism, Ataxia, Dystonia	OMIM:618093
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
Chromosome 3Q29 Deletion Syndrome	Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g...	OMIM:609425
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Central Diabetes Insipidus	Hyponatremia, Weight loss, Failure to thrive	ORPHA:178029
Spinocerebellar Ataxia 18	Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Emotional lability, Disinhibition, Frontotemporal dementia, Dysphagia, Motor stereotypy	OMIM:612069
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Phenylketonuria	Osteopenia, Tremor, Lower limb spasticity, Hyperphenylalaninemia, Ataxia	ORPHA:716
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Failure to thrive, Confusion, Emotional lability, Lethargy, Cognitive impairment, Ataxia, Deliriu...	ORPHA:927
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Epilepsy, Familial Adult Myoclonic, 4	Myoclonus, Tremor	OMIM:615127
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Spinocerebellar Ataxia Type 37	Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis	ORPHA:363710
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Lower limb ...	OMIM:612736
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total...	OMIM:267700
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Dystonia, Attention deficit hyperactivity disorder, Motor tics, Ataxia, B...	OMIM:619725
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperinsulinemia, Polyphagia, Reduced social reciprocity	ORPHA:329249
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy	OMIM:619470
Severe Intellectual Disability And Progressive Spastic Paraplegia	Difficulty walking, Excessive shyness, Dystonia, Overweight, Motor stereotypy, Waddling gait	ORPHA:280763
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia	OMIM:128235
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin concentrati...	OMIM:606159
Early-Onset Autosomal Dominant Alzheimer Disease	Memory impairment, Confusion, Disinhibition, Ataxia, Dementia, Semantic dementia, Abnormal social...	ORPHA:1020
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia	OMIM:615362
Atypical Rett Syndrome	Restrictive behavior, Pill-rolling tremor, Impaired pain sensation, Inability to walk, Bruxism, I...	ORPHA:3095
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	OMIM:177735
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Myoclonus, Tremor	OMIM:615400
Pitt-Hopkins-Like Syndrome 1	Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera...	OMIM:610042
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait	OMIM:600363
Spinocerebellar Ataxia Type 14	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia	ORPHA:98763
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Par...	OMIM:618718
Hyperprolinemia, Type I	Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia	OMIM:239500
Developmental And Epileptic Encephalopathy 58	Inability to walk, Motor stereotypy	OMIM:617830
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Failure to thrive	OMIM:264350
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	ORPHA:556037
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or...	ORPHA:420485
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Gait ataxia, Recurrent hand flapping, Short attention span, Emotional lability...	OMIM:619580
Parkinson Disease 17	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Dystonia 24	Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia	OMIM:615034
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy	OMIM:618906
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Small for gestational age, Tremor, Ataxia	OMIM:278780
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Bruxism, Short attention span, Tremor, Decreased body weight, Aggressive behavior, Attention defi...	OMIM:618342
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Inability to walk, Short attention span, Reduced social reciprocity, Dystonia, ...	OMIM:617854
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hyperphenylalaninemia, Hypertonia, Ata...	OMIM:261640
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Young-Onset Parkinson Disease	Depression, Frontal lobe dementia, Gait imbalance, Restless legs, Agitation, Reduced social recip...	ORPHA:2828
Baker-Gordon Syndrome	Self-injurious behavior, Inability to walk, Ataxia, Dystonia, Motor stereotypy, Choreoathetosis	OMIM:618218
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Difficulty walking, Motor stereotypy, Failure to thrive, Irritability	OMIM:617393
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	ORPHA:556030
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Tetraparesis, Generalized lipodystrophy, Limb dystonia, Redu...	ORPHA:363400
Alg8-Cdg	Failure to thrive, Abnormality of subcutaneous fat tissue, Hyponatremia, Ataxia, Camptodactyly, S...	ORPHA:79325
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att...	ORPHA:449291
Neurodegeneration With Brain Iron Accumulation 7	Tremor, Dysmetria, Lower limb spasticity, Ataxia, Increased circulating very long-chain fatty aci...	OMIM:617916
Hypermanganesemia With Dystonia 2	Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa...	OMIM:617013
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Emotional lability, Loss of ambulation, Dysphagia, Cognitive impairment, Motor deteri...	ORPHA:79264
Christianson Syndrome	Inappropriate laughter, Gait ataxia, Motor stereotypy, Cachexia, Truncal ataxia, Dystonia, Dysphagia	ORPHA:85278
Spinocerebellar Ataxia 23	Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign	OMIM:610245
Intellectual Developmental Disorder, Autosomal Dominant 7	Failure to thrive in infancy, Inappropriate laughter, Stereotypical hand wringing, Gait disturban...	OMIM:614104
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Com...	OMIM:618917
Autosomal Spastic Paraplegia Type 58	Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B...	ORPHA:397946
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Elevated circulating phytanic acid concentration, Increased phytanic acid:pristanic a...	OMIM:614307
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response	OMIM:617028
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Increased total iron binding capacity, Tremor, Rigidity, Dystonia, Abnormali...	OMIM:613280
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Parkinsonism-Dystonia 3, Childhood-Onset	Depression, Chorea, Reduced social reciprocity, Aggressive behavior, Ataxia, Dysphagia	OMIM:619738
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Failure to thrive	OMIM:614736
Epilepsy, Progressive Myoclonic, 6	Elevated circulating creatine kinase concentration, Myoclonus, Tremor, Ataxia	OMIM:614018
Autism Spectrum Disorder Due To Auts2 Deficiency	Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi...	ORPHA:352490
Snakebite Envenomation	Respiratory paralysis, Paralysis, Hyponatremia, Pseudobulbar paralysis	ORPHA:449285
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia	OMIM:618587
Leukodystrophy, Hypomyelinating, 11	Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia	OMIM:616494
Saccharopinuria	Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnormal circulating enzyme...	ORPHA:3124
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,...	OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Tremor, Elevated circulating creatine kinase concentration, Dysmetria, Ataxia	OMIM:618387
Lopes-Maciel-Rodan Syndrome	Bruxism, Tremor, Dystonia, Dysphagia, Unsteady gait, Bradykinesia, Motor stereotypy, Agitation	OMIM:617435
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Paralysis	ORPHA:83601
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Tremor	ORPHA:79234
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig...	OMIM:600116
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Hyponatremia, Weight loss, Hyperkalemia, Increased circulating reni...	ORPHA:171876
Dystonia 7, Torsion	Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu...	OMIM:602124
Glycosylphosphatidylinositol Biosynthesis Defect 15	Osteopenia, Spasticity, Gait ataxia, Tremor, Dysmetria, Apraxia	OMIM:617810
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Ataxia	OMIM:617917
Rett Syndrome	Failure to thrive, Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, D...	ORPHA:778
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Depression, Failure to thrive, Short attention span, Aggressive behavior, Attention deficit hyper...	OMIM:620242
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Shukla-Vernon Syndrome	Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy...	OMIM:301029
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total...	OMIM:603553
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia	OMIM:617836
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Periodic paralysis, Hand tremor	OMIM:609153
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Inability to walk, Chorea, Short attention span, Irritability, Exaggerated sta...	OMIM:617864
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
X-Linked Dystonia-Parkinsonism	Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion...	ORPHA:53351
Female Restricted Epilepsy With Intellectual Disability	Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci...	ORPHA:101039
Japanese Encephalitis	Pill-rolling tremor, Elbow flexion contracture, Cogwheel rigidity, Myoclonus, Tremor, Abnormality...	ORPHA:79139
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia, Sma...	ORPHA:70594
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia	OMIM:213200
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait...	ORPHA:98794
Pigmented Nodular Adrenocortical Disease, Primary, 1	Mental deterioration, Depression, Decreased circulating dehydroepiandrosterone concentration, Inc...	OMIM:610489
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis	OMIM:618049
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Hyperuricemia, Hyponatremia, Increased blood urea nitrogen	OMIM:613845
Hereditary Coproporphyria	Hyponatremia, Atypical scarring of skin, Abnormal circulating porphyrin concentration	ORPHA:79273
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Myoclonic spasms, Ataxia, Dystonia,...	ORPHA:79263
Late Infantile Neuronal Ceroid Lipofuscinosis	Mental deterioration, Inability to walk, Obsessive-compulsive trait, Low frustration tolerance, A...	ORPHA:168491
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness...	ORPHA:100924
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Motor stereotypy	OMIM:615282
Spinocerebellar Ataxia With Epilepsy	Myoclonus, Gait ataxia, Dysmetria, Tremor, Hyperalaninemia, Dystonia, Dysdiadochokinesis, Progres...	ORPHA:254881
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ...	ORPHA:363654
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Tremor, Dysmetria, Lower limb spasticity, Ataxia	OMIM:619028
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Resting tremor, Bradykinesia, Obesity, Tremor, Dystonia,...	OMIM:300055
Pigmented Nodular Adrenocortical Disease, Primary, 2	Mental deterioration, Depression, Increased circulating cortisol level, Pigmented micronodular ad...	OMIM:610475
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d...	OMIM:612953
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Intellectual Developmental Disorder, Autosomal Dominant 45	Slender build, Chorea, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperac...	OMIM:617600
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Developmental And Epileptic Encephalopathy 42	Tremor, Hypertonia, Ataxia, Flexion contracture, Athetosis	OMIM:617106
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Failure to thrive	OMIM:620157
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Dystonia	ORPHA:306669
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactiv...	OMIM:618825
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	ORPHA:329284
Metachromatic Leukodystrophy, Adult Form	Memory impairment, Depression, Progressive psychomotor deterioration, Difficulty walking, Chorea,...	ORPHA:309271
Developmental And Epileptic Encephalopathy 6B	Inability to walk, Chorea, Ataxia, Dystonia, Motor stereotypy, Choreoathetosis	OMIM:619317
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, ...	ORPHA:240085
Behr Syndrome	Frequent falls, Hamstring contractures, Dysmetria, Tremor, Babinski sign, Achilles tendon contrac...	OMIM:210000
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Xq28 (MECP2) duplication	Depression, Failure to thrive, Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy	DECIPHER:45
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Self-injurious behavior, Failure to thrive, Recurrent hand flapping, Aggressive behavior, Attenti...	OMIM:300986
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Osteomalacia, Weight loss, Elevated circulating C-reactive protein concentration...	OMIM:619381
Ddost-Cdg	Osteopenia, Failure to thrive, Tremor, Lipodystrophy, Oromotor apraxia	ORPHA:300536
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head...	OMIM:618877
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Elevated circulating creatine kinase concentration, Dysmetria, Ataxia, Increased serum py...	OMIM:619405
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circulating creatine kinase c...	OMIM:208920
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Involuntary movements, Decreased circula...	ORPHA:48818
48,Xxyy Syndrome	Depression, Obesity, Tremor, Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy	ORPHA:10
Hartsfield Syndrome	Craniosynostosis, Hypernatremia	OMIM:615465
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact...	OMIM:620141
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Failure to thrive, Reduced social reciprocity, Aggressive behavior, Attention d...	OMIM:300352
Cri-Du-Chat Syndrome	Difficulty walking, Oppositional defiant disorder, Short attention span, Self-mutilation, Overfri...	OMIM:123450
Mirage Syndrome	Radial club hand, Paraplegia, Decreased body weight, Hyponatremia, Hyperkalemia	OMIM:617053
Chromosome 15Q11.2 Deletion Syndrome	Memory impairment, Reduced social reciprocity, Diminished ability to concentrate, Attention defic...	OMIM:615656
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Obesity, Reduced social reciprocity, Attention deficit hyperactivity disorder,...	ORPHA:261197
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss, Periodic paralysis, Tremor	OMIM:613239
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Spasticity, Gait ataxia, Tremor, Dysmetria, Oculomotor apraxia, Osteoporosis	ORPHA:529665
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis...	OMIM:606693
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ...	ORPHA:99750
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Depression, Paroxysmal dystonia, Attention deficit hyperactivity disorder, Cognitive impairment, ...	ORPHA:98784
Cystathioninuria	Cystathioninemia, Tremor	ORPHA:212
Porphyria Variegata	Tetraparesis, Abnormal circulating porphyrin concentration, Respiratory paralysis, Hyponatremia, ...	ORPHA:79473
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity	OMIM:620292
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior	ORPHA:530983
Leukodystrophy, Hypomyelinating, 6	Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis	OMIM:612438
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Ataxia, Motor ...	ORPHA:228402
Rett Syndrome	Bruxism, Gait ataxia, Stereotypical hand wringing, Cachexia, Gait apraxia, Motor deterioration, T...	OMIM:312750
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	OMIM:617044
Whipple Disease	Myoclonus, Hyponatremia, Cachexia, Abnormal pyramidal sign, Ataxia	ORPHA:3452
Generalized Pustular Psoriasis	Hypoalbuminemia, Obesity, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive protein con...	ORPHA:247353
Metachromatic Leukodystrophy, Juvenile Form	Progressive psychomotor deterioration, Short attention span, Emotional lability, Intention tremor...	ORPHA:309263
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Gait ataxia, Tremor, Impaired tactile sensation, Ataxia, Motor stereotypy	OMIM:619092
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Multiple joint contractures, Tremor, Babinski sign, Hyperton...	OMIM:128100
Pyruvate Dehydrogenase Deficiency	Spasticity, Osteolytic defects of the middle phalanx of the 4th toe, Cerebral palsy, Tremor, Mult...	ORPHA:765
Developmental And Epileptic Encephalopathy 30	Motor stereotypy	OMIM:616341
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Motor stereotypy	OMIM:619690
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300495
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	ORPHA:427
Perry Syndrome	Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Legionnaires Disease	Cellulitis, Hyponatremia, Ataxia	ORPHA:549
Familial Glucocorticoid Deficiency	Failure to thrive, Hyponatremia, Weight loss, Tetraplegia, Hyperkalemia	ORPHA:361
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia	OMIM:608688
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Hyperphenylalaninemia, Dystonia, Chore...	OMIM:233910
Congenital Isolated Acth Deficiency	Hyponatremia	ORPHA:199296
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Tremor, Fasciculations	OMIM:313200
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor gait, Spastic g...	OMIM:619121
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:613090
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Failure to thrive, Myoclonus, Hypokalemia, Hyponatremia, Hypertonia, Ataxia	OMIM:618426
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Hypomagnesemia, Abnormal circulating biopterin concentration, ...	ORPHA:1578
Infant Botulism	Hyponatremia, Cerebral palsy	ORPHA:178478
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Spasticity, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Autism, Susceptibility To, 3	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608049
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Weight loss, Apr...	OMIM:137440
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, Hyponatremia	ORPHA:1667
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia, Small for gestational age, Failure to thrive	ORPHA:97362
Brain Dopamine-Serotonin Vesicular Transport Disease	Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy...	ORPHA:352649
Late-Onset Isolated Acth Deficiency	Failure to thrive, Hyperuricemia, Hyponatremia, Weight loss, Generalized bone demineralization, H...	ORPHA:199299
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia	ORPHA:1930
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Depression, Hostility, Inability to walk, Bruxism, Chorea, Decreased body wei...	OMIM:300260
Adrenal Hypoplasia, Congenital	Hyponatremia, Failure to thrive	OMIM:300200
Spinocerebellar Ataxia 42	Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait	OMIM:616795
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia	ORPHA:1170
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M...	ORPHA:90793
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ...	ORPHA:101
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste...	ORPHA:313892
Galloway-Mowat Syndrome 6	Paroxysmal bursts of laughter, Motor stereotypy, Decreased body weight	OMIM:618347
Alg12-Cdg	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Abnormal bone ossification...	ORPHA:79324
Tay-Sachs Disease	Mania, Memory impairment, Depression, Laryngeal dystonia, Inability to walk, Short attention span...	ORPHA:845
Combined Oxidative Phosphorylation Deficiency 3	Hyperammonemia, Tremor, Elevated circulating creatine kinase concentration, Hyponatremia, Ataxia,...	OMIM:610505
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Lethargy, Tong...	OMIM:608643
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Depression, Self-mutilation, Tremor, Gait disturbance, Overweight, Motor stereotypy	ORPHA:457240
Radio-Tartaglia Syndrome	Obesity, Gait imbalance, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, D...	OMIM:619312
Choreoacanthocytosis	Mental deterioration, Emotional lability, Hair-pulling, Loss of ambulation, Bradykinesia, Dysphag...	ORPHA:2388
Smith-Magenis Syndrome	Pain insensitivity, Head-banging, Impaired pain sensation, Onychotillomania, Self-mutilation, Inc...	OMIM:182290
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior	ORPHA:64280
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Inability to walk, Bruxism, Chorea, Paroxysmal dystonia, Dystonia, Motor...	OMIM:618004
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620502
Chromosome 2Q37 Deletion Syndrome	Pain insensitivity, Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, ...	OMIM:600430
Ataxia With Vitamin E Deficiency	Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hypertonia, Ataxia, Dystonia,...	ORPHA:96
Coffin-Siris Syndrome 6	Tics, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617808
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Obesity, Motor stereotypy	OMIM:613886
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Inability to walk, Short attention span, Emotional lability, Reduced social reciprocity, Spastic ...	ORPHA:300570
Intellectual Developmental Disorder, X-Linked 98	Failure to thrive, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Reduced...	OMIM:300912
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Failure to thrive, Generalized dystonia, Intention tremor, Tremor, Progressiv...	OMIM:312080
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Depression, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Mem...	ORPHA:189427
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Self-injurious behavior, Tremor, Aggressive behavior, Attention deficit hyper...	OMIM:617061
Rabin-Pappas Syndrome	Failure to thrive in infancy, Obesity, Hyponatremia	OMIM:620155
Spinocerebellar Ataxia Type 21	Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell...	ORPHA:98773
Snijders Blok-Campeau Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Unsteady gait, Broad-based gait	OMIM:618205
Familial Dysautonomia	Hyponatremia, Osteolysis, Ataxia	ORPHA:1764
Intellectual Developmental Disorder, Autosomal Recessive 39	Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:615541
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Rett Syndrome, Congenital Variant	Bruxism, Chorea, Reduced social reciprocity, Irritability, Tongue thrusting, Dystonia, Athetosis,...	OMIM:613454
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	OMIM:608768
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	ORPHA:90791
Blepharophimosis-Impaired Intellectual Development Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Low frustration tolerance, Overfriend...	OMIM:619293
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Gait ataxia, Self-mutilation, Tremor, Aggressive behavior, Attention deficit h...	ORPHA:476126
Juvenile Nephropathic Cystinosis	Hypouricemia, Failure to thrive, Elevated circulating creatinine concentration, Hypocalcemic teta...	ORPHA:411634
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Ataxia, Broad-based gait, Short attention span, Exaggerated startle response, Dystonia	ORPHA:438216
Bartter Syndrome Type 4	Failure to thrive, Hypomagnesemia, Increased circulating renin level, Hypokalemia, Clumsiness, Se...	ORPHA:89938
Den Hoed-De Boer-Voisin Syndrome	Inability to walk, Obesity, Short attention span, Tremor, Stereotypical hand wringing, Decreased ...	OMIM:619229
Tay-Sachs Disease	Dementia, Psychomotor deterioration, Exaggerated startle response	OMIM:272800
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Difficulty walking, Gait ataxia, Dystonia, Motor stereotypy	OMIM:617807
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age	ORPHA:391673
Acute Intermittent Porphyria	Respiratory paralysis, Hyponatremia, Tremor, Pseudobulbar paralysis	ORPHA:79276
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Mental deterioration, Depression, Dementia, Chorea, Limb dy...	ORPHA:646
Gm2-Gangliosidosis, Ab Variant	Dementia, Dystonia, Chorea, Exaggerated startle response	OMIM:272750
Spinocerebellar Ataxia Type 27	Hand tremor, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia	ORPHA:98764
Smith-Magenis Syndrome	Self-injurious behavior, Impaired pain sensation, Failure to thrive in infancy, Obesity, Attentio...	ORPHA:819
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618504
Metachromatic Leukodystrophy, Late Infantile Form	Tip-toe gait, Gait ataxia, Emotional lability, Progressive gait ataxia, Abnormal social behavior	ORPHA:309256
Acute Adrenal Insufficiency	Failure to thrive, Hyperuricemia, Hyponatremia, Weight loss, Hyperkalemia, Hypercalcemia, Increas...	ORPHA:95409
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Obesity, Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor stereotypy	OMIM:618430
Intellectual Developmental Disorder, Autosomal Dominant 38	Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy	OMIM:616393
Potocki-Lupski Syndrome	Failure to thrive, Oral-pharyngeal dysphagia, Hyperactivity, Motor stereotypy, Small for gestatio...	OMIM:610883
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Memory impairment, Intention tremor, Dysmetria, Aggressive behavior, Unsteady gait, Nonpr...	ORPHA:314647
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Failure to thrive, Hyponatremia, Osteoporosis, Hy...	ORPHA:168558
48,Xxxy Syndrome	Obesity, Tremor, Irritability, Attention deficit hyperactivity disorder, Abnormal aggressive, imp...	ORPHA:96263
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Oculogyric crisis, Oral-pharyngeal dysphagia, Dystonia, Motor stereotypy	ORPHA:208447
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Failure to thrive, Hyponatremia, Osteoporosis, Hy...	ORPHA:289548
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Irritability, Failure to thrive, Ataxia	OMIM:616881
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia, Failure to thrive	ORPHA:90790
Chédiak-Higashi Syndrome	Spastic paraplegia, Increased circulating ferritin concentration, Hypertriglyceridemia, Tremor, H...	ORPHA:167
Addison Disease	Failure to thrive, Hyperuricemia, Hyponatremia, Weight loss, Generalized bone demineralization, H...	ORPHA:85138
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:300894
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Motor stereotypy	OMIM:615637
Houge-Janssens Syndrome 3	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618354
Holoprosencephaly	Spasticity, Failure to thrive in infancy, Chorea, Congenital diaphragmatic hernia, Hyponatremia, ...	ORPHA:2162
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Progressive extrapyramidal muscular rigidity, Axial dystonia, Tremor, Dystonia, Pa...	ORPHA:240071
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Abnormal circulating crea...	ORPHA:199351
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Abnormal circulating biopterin concentration, Tremor, Abnormal cir...	OMIM:612716
Niemann-Pick Disease, Type C2	Dysphagia, Ataxia, Dementia, Dystonia, Motor stereotypy	OMIM:607625
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Rickets, Failure to thrive, Hypomagnesemia, Failur...	OMIM:219800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Emotional lability, Decreased body weight, Cognitive impairment, Torticollis, A...	OMIM:619475
Sandhoff Disease	Progressive psychomotor deterioration, Impaired temperature sensation, Exaggerated startle respon...	OMIM:268800
Nmda Receptor Encephalitis	Mania, Memory impairment, Depression, Oculogyric crisis, Confusion, Chorea, Short attention span,...	ORPHA:217253
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Small for gestational age, Failure to thrive	OMIM:618252
Oculocerebrorenal Syndrome Of Lowe	Atypical scarring of skin, Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology...	ORPHA:534
Trichotillomania	Compulsive behaviors, Hair-pulling	OMIM:613229
Ritscher-Schinzel Syndrome 4	Chorea, Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Impulsivity	OMIM:619435
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Motor stereotypy	OMIM:613443
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Motor stereotypy, Gait ataxia, Impaired pain sensation, Overfriendliness	OMIM:616579
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Motor stereotypy	ORPHA:411986
Intellectual Developmental Disorder, Autosomal Dominant 52	Obsessive-compulsive trait, Irritability, Hyperactivity, Pica, Overweight, Motor stereotypy, Smal...	OMIM:617796
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Self-injurious behavior, Failure to thrive, Tremor, Aggressive behavior, Attention deficit hypera...	OMIM:620494
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response, Agitation	OMIM:618056
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Elevated ...	OMIM:614298
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Head tremor, Motor stereotypy, Ataxia	OMIM:619428
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
22Q11.2 Duplication Syndrome	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:1727
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Ataxia	OMIM:607876
Lysosomal Acid Lipase Deficiency	Failure to thrive, Hyponatremia, Cachexia, Weight loss, Hypercholesterolemia, Hypertriglyceridemi...	ORPHA:275761
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:602522
Shigellosis	Failure to thrive in infancy, Abnormal blood ion concentration, Hyponatremia	ORPHA:810
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Motor stereotypy	OMIM:618067
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Elevated circulating creatine kinase conce...	OMIM:606002
Adenohypophysitis	Hyponatremia	ORPHA:95512
White-Sutton Syndrome	Self-injurious behavior, Failure to thrive, Obesity, Overfriendliness, Irritability, Aggressive b...	OMIM:616364
Stiff Person Spectrum Disorder	Difficulty walking, Falls, Emotional lability, Exaggerated startle response	ORPHA:3198
3P25.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia	ORPHA:435638
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Dysphagia, Cognitive impairment, Failure to thrive, Exaggerated startle response	OMIM:617527
Adult-Onset Autosomal Dominant Leukodystrophy	Upper limb postural tremor, Spasticity, Tetraparesis, Gait ataxia, Action tremor, Dysmetria, Trem...	ORPHA:99027
4Q21 Microdeletion Syndrome	Self-injurious behavior, Motor stereotypy, Tremor	ORPHA:238750
Hijazi-Reis Syndrome	Gait disturbance, Motor stereotypy	OMIM:301094
Panhypophysitis	Hyponatremia	ORPHA:95513
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Motor stereotypy	OMIM:619877
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Self-injurious behavior, Head-banging, Failure to thrive, Frequent temper tantrums, Short attenti...	OMIM:619575
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Inverted Duplicated Chromosome 15 Syndrome	Aggressive behavior, Motor stereotypy, Hyperactivity, Self-biting	ORPHA:3306
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Attention deficit hyperactivity disorder, Frequent temper tantrums, Head-banging, Motor stereotypy	OMIM:619103
Sheehan Syndrome	Hyponatremia, Obesity	ORPHA:91355
Phelan-Mcdermid Syndrome	Broad-based gait, Impaired pain sensation, Bruxism, Reduced social reciprocity, Aggressive behavi...	OMIM:606232
Pituitary Apoplexy	Hyponatremia	ORPHA:95613
Fg Syndrome Type 1	Broad-based gait, Slender build, Attention deficit hyperactivity disorder, Compulsive behaviors, ...	ORPHA:93932
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo...	ORPHA:95699
Parkinson Disease, Late-Onset	Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:168600
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620073
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Failure to thrive	ORPHA:293978
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Motor stereotypy, Small for gestational age, Compulsive behaviors	OMIM:613174
Pituitary Adenoma 4, Acth-Secreting	Increased circulating ACTH level, Abnormal fear-induced behavior, Pituitary adenoma, Emotional la...	OMIM:219090
2Q37 Microdeletion Syndrome	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Obesity	ORPHA:1001
Coffin-Siris Syndrome 7	Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity	OMIM:618027
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Aggressive behavior, Motor stereotypy, Hyperactivity, Irritability	ORPHA:391307
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Head-banging, Obesity, Reduced social reciprocity, Skin-picking, Attent...	ORPHA:177907
Wiedemann-Steiner Syndrome	Failure to thrive, Short attention span, Low frustration tolerance, Aggressive behavior, Dysphagi...	ORPHA:319182
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia, Hemiparesis	ORPHA:544482
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Alazami Syndrome	Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing	ORPHA:319671
Intellectual Developmental Disorder, Autosomal Dominant 34	Bruxism, Broad-based gait, Motor stereotypy	OMIM:616351
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Difficulty walking, Impaired vibration sensation in the lower limbs, Exaggerated startle response	ORPHA:320406
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Depression, Exaggerated startle response	OMIM:620114
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereotypy	OMIM:300486
X-Linked Intellectual Disability, Cantagrel Type	Motor stereotypy	ORPHA:85277
Cystinosis	Polydipsia, Gait disturbance, Motor stereotypy, Failure to thrive	ORPHA:213
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Periodic hypokalemic paresis, Hypomagnesemia, Obesity, Tremor, Respiratory ...	ORPHA:79102
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	ORPHA:488618
Intellectual Developmental Disorder, Autosomal Dominant 48	Motor stereotypy, Hyperactivity	OMIM:617751
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Inappropriate laughter, Motor stereotypy, Failure to thrive	OMIM:615802
Parkinson Disease 20, Early-Onset	Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia	OMIM:615530
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Self-mutilation, Decreased body weight, Attention deficit hyperactivity ...	OMIM:619005
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Motor stereotypy, Dysphagia	OMIM:617802
5Q14.3 Microdeletion Syndrome	Motor stereotypy	ORPHA:228384
Liver Disease, Severe Congenital	Failure to thrive, Umbilical hernia, Increased circulating ferritin concentration, Hyperbilirubin...	OMIM:619991
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff...	ORPHA:90796
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal temper tantrums, Low frustration tolerance, Aggressive behavior, Ataxia, Unsteady gait, ...	ORPHA:457279
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity	OMIM:618914
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:613080
Congenital Disorder Of Glycosylation, Type Iia	Failure to thrive, Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Unsteady ga...	OMIM:212066
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling, Irritability, Dysphagia, Hyperactivity, Motor stereotypy	ORPHA:447997
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Motor stereotypy	ORPHA:500159
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Exaggerated startle response	OMIM:618201
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Self-injurious behavior, Broad-based gait, Fixated interests, Emotional labil...	OMIM:620330
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Helsmoortel-Van Der Aa Syndrome	Failure to thrive, Bruxism, Obesity, Reduced social reciprocity, Irritability, Polyphagia, Attent...	OMIM:615873
7Q11.23 Microduplication Syndrome	Self-injurious behavior, Obesity, Dysmetria, Reduced social reciprocity, Aggressive behavior, Pol...	ORPHA:96121
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Chorea, Self-mutilation, Repetitive compulsive behavior, Self-biting, Ataxia, Dystonia, Motor ste...	ORPHA:522077
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la...	ORPHA:353281
Stiff-Person Syndrome	Opisthotonus, Depression, Exaggerated startle response	OMIM:184850
Van Esch-O'Driscoll Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Excessive shyness, Impulsivity	OMIM:301030
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Motor stereotypy	ORPHA:397612
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Hyponatremia, Weight loss, Hyperkalemia, Hypochloremia	ORPHA:90794
Rauch-Steindl Syndrome	Aggressive behavior, Motor stereotypy, Hyperactivity, Failure to thrive	OMIM:619695
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Limb dystonia, Motor stereotypy, Inability to walk	ORPHA:457351
Bainbridge-Ropers Syndrome	Self-injurious behavior, Failure to thrive, Inability to walk, Recurrent hand flapping, Motor ste...	OMIM:615485
Kleefstra Syndrome 1	Compulsive behaviors, Aggressive behavior, Obesity, Motor stereotypy	OMIM:610253
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Dystonia, Motor stereotypy, Dysphagia, Ataxia	ORPHA:496641
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Attention deficit hyperactivity disorder, Gait disturbance, Motor stereotypy, ...	ORPHA:464311
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Mental deterioration, Oppositional defiant disorder, Short attention sp...	ORPHA:580
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Polydipsia, Abnormality of circulating cortisol level, D...	ORPHA:320
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Obesity, Hyperlipidemia	ORPHA:293987
Tuberous Sclerosis Complex	Self-injurious behavior, Depression, Pituitary adenoma, Pheochromocytoma, Parathyroid hyperplasia...	ORPHA:805
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Impaired oropharyngeal swallow response, Failure to thrive, Exaggerated startle response	ORPHA:521426
Combined Oxidative Phosphorylation Deficiency 58	Difficulty walking, Gait ataxia, Exaggerated startle response, Ataxia	OMIM:620451
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Aggressive behavior, Obesity, Motor stereotypy, Short attention span	OMIM:301066
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Hand tremor, Gait ataxia, Dysmetria, Aggressive behavior, Attention deficit hyp...	OMIM:614756
Joubert Syndrome 6	Motor stereotypy, Ataxia	OMIM:610688
Megalocornea-Intellectual Disability Syndrome	Motor stereotypy, Ataxia	ORPHA:2479
Asparagine Synthetase Deficiency	Tremor, Failure to thrive, Exaggerated startle response, Irritability	OMIM:615574
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Motor stereotypy, Dysphagia	ORPHA:572013
White-Sutton Syndrome	Self-injurious behavior, Obesity, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor...	ORPHA:468678
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Decreased circulating renin level, Hyponatremia, Camptodactyly, Cr...	OMIM:201750
Kleefstra Syndrome	Self-injurious behavior, Obesity, Self-mutilation, Aggressive behavior, Motor stereotypy	ORPHA:261494
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Increased serum bile acid concentration	ORPHA:731
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal pyra...	OMIM:234200
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Motor stereotypy	ORPHA:529965
Dihydropyrimidine Dehydrogenase Deficiency	Inability to walk, Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, ...	ORPHA:1675
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Glycine Encephalopathy With Normal Serum Glycine	Dysphagia, Exaggerated startle response	OMIM:617301
African Trypanosomiasis	Somatic sensory dysfunction, Difficulty walking, Akinesia, Paresthesia, Abnormality of circulatin...	ORPHA:3385
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Pilarowski-Bjornsson Syndrome	Motor stereotypy	OMIM:617682
Foxg1 Syndrome Due To 14Q12 Microdeletion	Motor stereotypy	ORPHA:261144
Pitt-Hopkins Syndrome	Self-injurious behavior, Motor stereotypy, Gait ataxia	OMIM:610954
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Developmental And Epileptic Encephalopathy 100	Chorea, Gait ataxia, Motor stereotypy, Dysphagia, Choreoathetosis	OMIM:619777
Hydroxykynureninuria	Motor stereotypy	ORPHA:79155
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la...	ORPHA:353277
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Hypotonia, Ataxia, And Delayed Development Syndrome	Pain insensitivity, Broad-based gait, Gait ataxia, Dysmetria, Dysphagia, Ataxia, Truncal ataxia, ...	OMIM:617330
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Self-injurious behavior, Failure to thrive, Frequent temper tantrums, Hyperactivity, Compulsive b...	OMIM:619512
Developmental And Epileptic Encephalopathy 2	Inability to walk, Motor stereotypy	OMIM:300672
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Monosomy 22Q13.3	Bruxism, Hyperactivity, Impaired pain sensation, Hair-pulling	ORPHA:48652
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Inappropriate laughter, Overfriendliness, Attention deficit hyperactivity disorder...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Inappropriate laughter, Overfriendliness, Attention deficit hyperactivity disorder...	ORPHA:363958
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Opisthotonus, Motor stereotypy	ORPHA:508533
Dyrk1A-Related Intellectual Disability Syndrome	Failure to thrive, Gait disturbance, Hyperactivity, Motor stereotypy, Small for gestational age	ORPHA:464306
Mend Syndrome	Aggressive behavior, Failure to thrive, Hyperactivity, Abnormal social behavior	ORPHA:401973
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Kinsship Syndrome	Bruxism, Motor stereotypy, Failure to thrive	OMIM:619297
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Failure to thrive, Stereotypical body rocking, Gait ataxia, Repetitive compulsi...	ORPHA:513456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Gm1 Gangliosidosis Type 1	Exaggerated startle response	ORPHA:79255
Cornelia De Lange Syndrome 6	Compulsive behaviors, Hair-pulling	OMIM:620568
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Difficulty walking, Obesity, Motor stereotypy	OMIM:618653
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Severe failure to thrive, Motor stereotypy	ORPHA:468631
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Motor stereotypy	OMIM:301040
Williams Syndrome	Depression, Failure to thrive in infancy, Obesity, Gait imbalance, Overfriendliness, Dysmetria, T...	ORPHA:904
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Dysphagia, Exaggerated startle response, Irritability	OMIM:618367
Norrie Disease	Self-injurious behavior, Failure to thrive, Irritability, Attention deficit hyperactivity disorde...	ORPHA:649
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response	OMIM:619522
Arboleda-Tham Syndrome	Dystonia, Gait imbalance, Motor stereotypy, Dysphagia	OMIM:616268
1P36 Deletion Syndrome	Self-injurious behavior, Failure to thrive, Obesity, Polyphagia, Gait disturbance, Dysphagia, Mot...	ORPHA:1606
Primrose Syndrome	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Truncal o...	OMIM:259050
Ogden Syndrome	Motor stereotypy, Dysphagia, Torticollis, Irritability	OMIM:300855
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Inability to walk, Stereotypical hand wringing, Exaggerated startle response, D...	ORPHA:438213
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small for gestational age, Motor stereotypy, Hyperactivity	OMIM:309590
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Motor stereotypy	ORPHA:508498
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Failure to thrive, Tremor, Truncal obesity, Motor stereotypy	OMIM:612474
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Motor stereotypy	OMIM:616682
Wolf-Hirschhorn Syndrome	Motor stereotypy, Small for gestational age, Failure to thrive	OMIM:194190
Coffin-Siris Syndrome 12	Motor stereotypy, Failure to thrive	OMIM:619325
Mowat-Wilson Syndrome	Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Reduced social reciprocity...	ORPHA:2152
Lowe Oculocerebrorenal Syndrome	Aggressive behavior, Motor stereotypy, Failure to thrive	OMIM:309000
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Motor stereotypy	OMIM:301044
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Impaired pain sensation, Failure to thrive, Inability to walk, Bruxism, Motor s...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Impaired pain sensation, Failure to thrive, Inability to walk, Bruxism, Motor s...	ORPHA:261552
Intellectual Developmental Disorder, Autosomal Dominant 62		OMIM:618793

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dlg4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dlg4.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Dlg4^{tm1e(EUCOMM)Wtsi} Dlg4^tm1Grnt	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Dlg4^{tm1e(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Dlg4^{tm1e(EUCOMM)Wtsi} Dlg4^tm1Grnt	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Dlg4^tm1Grnt Dlg4^tm1Grnt Dlg4^{tm1e(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Dlg4^tm1Grnt Dlg4^{tm1e(EUCOMM)Wtsi}	PMC5827107
Reporting phenotypes in mouse models when considering body size as a potential confounder.	Journal of biomedical semantics (February 2016)	Dlg4^{tm1e(EUCOMM)Wtsi}	PMC4748495
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Dlg4^tm1Grnt	PMC3996542

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dlg4^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dlg4^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	Mice
Dlg4^tm1Grnt	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dlg4 MGI:1277959

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Anti-nuclear antibody assay

X-ray

X-ray

X-ray

DSS Histology

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Dlg4 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data