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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
decreased exploration in new environment	Dlg4^tm1Grnt	HOM	Early adult	6.95×10^-14
decreased locomotor activity	Dlg4^tm1Grnt	HOM	Early adult	6.30×10^-05
increased lean body mass	Dlg4^{tm1e(EUCOMM)Wtsi}	HOM	Early adult	4.46×10^-06
abnormal behavior	Dlg4^tm1Grnt	HOM	Early adult	6.65×10^-07
decreased total body fat amount	Dlg4^{tm1e(EUCOMM)Wtsi}	HOM	Early adult	5.30×10^-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 bone mineral content	Dlg4^{tm1e(EUCOMM)Wtsi}	HOM	Early adult	5.89×10^-05
decreased body weight	Dlg4^tm1Grnt	HOM	Early adult	1.55×10^-08
decreased bone mineral content	Dlg4^tm1Grnt	HOM	Early adult	5.70×10^-05
increased circulating sodium level	Dlg4^{tm1e(EUCOMM)Wtsi}	HOM	Early adult	4.56×10^-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 Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Anti-nuclear antibody assay

Images

7 Images

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Eye Morphology

Images Slit Lamp

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 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 (575 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	Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Elevated circulating creati...	OMIM:160120
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so...	OMIM:608636
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech	OMIM:613227
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Reduced social reciprocity, Compulsive behaviors	OMIM:618830
Primary Orthostatic Tremor	Abnormality of extrapyramidal motor function, Tremor	ORPHA:238606
N-Acetylaspartate Deficiency	Broad-based gait, Truncal ataxia, Decreased body weight, Short attention span, Unsteady gait, Mot...	OMIM:614063
Primary Dystonia, Dyt27 Type	Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto...	ORPHA:464440
Dystonia 27	Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo...	OMIM:616411
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A...	ORPHA:98769
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, C...	ORPHA:66624
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Pudendal Neuralgia	Paroxysmal rectal pain, Neuralgia, Pelvic pain, Vulvodynia, Allodynia, Scrotal pain, Anal pain	ORPHA:60039
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia, Flexion contracture	OMIM:611105
Leukoencephalopathy, Brain Calcifications, And Cysts	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra...	OMIM:614561
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Primary Dystonia, Dyt13 Type	Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio...	ORPHA:98807
Sandhoff Disease, Adult Form	Fasciculations, Spasticity, Tremor, Elevated circulating creatine kinase concentration, Gait atax...	ORPHA:309169
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Dystonia 3, Torsion, X-Linked	Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication...	OMIM:314250
Spinocerebellar Ataxia 20	Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor	OMIM:608687
Tremor, Hereditary Essential, 1	Action tremor, Hand tremor, Postural tremor	OMIM:190300
Behavioral Variant Of Frontotemporal Dementia	Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Frontotemporal de...	ORPHA:275864
Hyperchlorhidrosis, Isolated	Hyperkalemia, Failure to thrive, Hyponatremia	OMIM:143860
Trigeminal Neuralgia	Mandibular pain, Trigeminal neuralgia, Allodynia, Ocular pain	ORPHA:221091
Asperger Syndrome, Susceptibility To, 1	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:608631
Progressive Supranuclear Palsy	Bradykinesia, Irritability, Memory impairment, Depression, Emotional lability, Falls, Tremor, Ble...	ORPHA:683
Hyperphenylalaninemia, Bh4-Deficient, D	Hyperphenylalaninemia, Hypertonia, Tremor, Transient hyperphenylalaninemia	OMIM:264070
Spinocerebellar Ataxia 43	Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia	OMIM:617018
Segawa Syndrome, Autosomal Recessive	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop...	OMIM:605407
Autism, Susceptibility To, 8	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:607373
Autism	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:209850
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Reduced social reciprocity, Motor stereotypy	OMIM:606053
Myoclonus, Familial, 1	Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus	OMIM:614937
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy	OMIM:618709
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Vocal tremor, Head tremor	OMIM:618866
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus	ORPHA:401901
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Frontotemporal dementia, Memory impairment, Gait disturbance, Dystonia, D...	OMIM:600795
Foxg1 Syndrome	Difficulty walking, Inability to walk, Decreased body weight, Stereotypical hand wringing, Cognit...	ORPHA:561854
Pick Disease Of Brain	Irritability, Emotional blunting, Frontotemporal dementia, Polyphagia, Inappropriate laughter, Di...	OMIM:172700
Complex Regional Pain Syndrome	Limb pain, Allodynia	ORPHA:83452
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ...	ORPHA:521406
Dystonia, Dopa-Responsive	Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Transient hyperphenylalaninemia, Restin...	OMIM:128230
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m...	OMIM:260300
Chronic Bilirubin Encephalopathy	Hypertonia, Cerebral palsy, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypertonia, Cerebral palsy, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529799
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia	OMIM:618425
Glucose-Galactose Malabsorption	Failure to thrive, Hypercalcemia, Weight loss, Hypernatremia	ORPHA:35710
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior	ORPHA:208441
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Falls, Chorea, Inappropriate laughter, Dystonia, Ataxia, Motor stereotypy, Bruxism, Aggressive be...	OMIM:619150
Spinocerebellar Ataxia Type 20	Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l...	ORPHA:101110
Childhood Disintegrative Disorder	Abnormal emotion, Motor deterioration, Progressive language deterioration, Reduced social recipro...	ORPHA:168782
Spinocerebellar Ataxia 40	Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare...	OMIM:616053
Tremor, Hereditary Essential, 5	Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor	OMIM:616736
Anterior Cutaneous Nerve Entrapment Syndrome	Abdominal pain, Allodynia, Back pain	ORPHA:51890
Parkinsonism With Spasticity, X-Linked	Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism	OMIM:300911
Neuroleptic Malignant Syndrome	Hyperkalemia, Oculogyric crisis, Hyperuricemia, Hypocalcemia, Chorea, Extrapyramidal muscular rig...	ORPHA:94093
Spinocerebellar Ataxia Type 31	Spasticity, Tremor, Gait ataxia	ORPHA:217012
Dystonia 11, Myoclonic	Tremor, Myoclonus, Torticollis, Writer's cramp	OMIM:159900
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Compulsive behaviors, Inflexible adherence to routines, Obesity, Failure to thrive in infancy, Mo...	OMIM:613670
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls	OMIM:616921
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Dystonia, Reduced social reciprocity, Motor stereotypy, Self-injurious behavior	OMIM:617820
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Tremor, Increased serum pyruvate,...	ORPHA:3008
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst...	OMIM:607317
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Tremor, Elevated circulating creatine kinase concentration	OMIM:615048
Spinocerebellar Ataxia 37	Tremor, Ataxia, Frequent falls	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	Hemiballismus, Frequent falls, Tremor, Chorea	ORPHA:494526
Hsd10 Disease	Abnormal social behavior, Tremor, Short attention span, Gait disturbance, Ataxia, Dysphagia, Chor...	ORPHA:391417
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, T...	OMIM:615924
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Dystonia, Frequent falls, Myoclonus	OMIM:619647
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:610297
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Ab...	OMIM:213600
Epilepsy, Progressive Myoclonic, 1B	Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria	OMIM:612437
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit...	OMIM:615751
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy, Hand tremor	OMIM:617862
Hyperkalemic Periodic Paralysis	Hyperkalemia, Hypertonia, Periodic hyperkalemic paralysis, Hypokalemia, Fasciculations, Cerebral ...	ORPHA:682
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypertonia, Myoclonus, Exaggerated startle response, Hypernatremia, Dystonia, Ankle clonus, Hyper...	OMIM:620423
Spinocerebellar Ataxia 38	Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:615957
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Webb-Dattani Syndrome	Hypernatremia, Obesity, Spasticity	OMIM:615926
Spastic Ataxia 2, Autosomal Recessive	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head...	OMIM:611302
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Fasciculations, Tremor	OMIM:182980
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Dystonia, Ataxia, Myoclonus	ORPHA:163921
Adult Neuronal Ceroid Lipofuscinosis	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign...	ORPHA:79262
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Exaggerated startle response, Cog...	ORPHA:309246
Atypical Pantothenate Kinase-Associated Neurodegeneration	Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia...	ORPHA:216873
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Tremor, Dystonia, Myoclonus	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	Allodynia, Pain	ORPHA:252164
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Abdominal pain, Abdominal cramps, Allodynia, Dementia	OMIM:603041
Autism, Susceptibility To, X-Linked 3	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300425
Autosomal Dominant Spastic Ataxia Type 1	Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Lower limb spasticity, ...	ORPHA:251282
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Spinocerebellar Ataxia Type 12	Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Intention tremor, Action t...	ORPHA:98762
Lower Motor Neuron Syndrome With Late-Adult Onset	Increased intramuscular fat, Fasciculations, Tongue fasciculations, Tremor, Elevated circulating ...	ORPHA:276435
Intellectual Developmental Disorder, Autosomal Recessive 58	Pica, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Aggressive behavior	OMIM:617270
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypoalbuminemia, Hypernatremia	OMIM:615508
11Q22.2Q22.3 Microdeletion Syndrome	Abnormal social behavior, Compulsive behaviors, Short attention span, Obesity, Attention deficit ...	ORPHA:444002
Hyperphenylalaninemia, Bh4-Deficient, C	Hypertonia, Tremor, Hyperphenylalaninemia, Dystonia, Myoclonus, Choreoathetosis	OMIM:261630
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Limb ataxia, Bradykinesia, Resting tremor, Depression, Dysdiadochokinesis, Tremor, Compulsive beh...	OMIM:615157
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat...	ORPHA:314632
Nephrogenic Diabetes Insipidus	Failure to thrive, Hypernatremia	ORPHA:223
Dystonia 28, Childhood-Onset	Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst...	OMIM:617284
Pontocerebellar Hypoplasia, Type 11	Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Decreased body weight, Atax...	OMIM:617695
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Ankle clonus	OMIM:615768
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin...	ORPHA:3077
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level	OMIM:610600
Primary Dystonia, Dyt2 Type	Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener...	ORPHA:99657
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Emotional lability, Agitation, Motor stereotypy, Aggressive behavior	OMIM:617171
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level	OMIM:203400
Corticobasal Syndrome	Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo...	ORPHA:454887
Spinocerebellar Ataxia 48	Babinski sign, Cachexia, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria	OMIM:618093
Dystonia 13, Torsion, Autosomal Dominant	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim...	OMIM:607671
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Tremor, Vocal cord paralysis	OMIM:158580
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w...	ORPHA:240103
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Gait ataxia, Failure to thrive, Motor stereotypy, Small for gestational age, Aggre...	OMIM:609425
Striatal Degeneration, Autosomal Dominant 1	Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech	OMIM:609161
Central Diabetes Insipidus	Failure to thrive, Hyponatremia, Weight loss	ORPHA:178029
Spinocerebellar Ataxia 18	Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria	OMIM:607458
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Frontotemporal dementia, Emotional lability, Disinhibition, Dysphagia, Motor stereotypy	OMIM:612069
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Phenylketonuria	Osteopenia, Lower limb spasticity, Hyperphenylalaninemia, Tremor, Ataxia	ORPHA:716
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Agitation, Emotional lability, Confusion, Cognitive impairment, Failure to thrive, Ataxia, Motor ...	ORPHA:927
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620126
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor...	OMIM:613135
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Motor stereotypy	OMIM:300271
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620125
Spinocerebellar Ataxia Type 37	Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Limb dysmetria	ORPHA:363710
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor...	OMIM:612736
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Hypertonia, Decreased HDL cholesterol concentration, Tetraplegia, Hypoprote...	OMIM:267700
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Resting tremor, Chorea, Intention tremor, Dystonia, Ataxia, Motor stereotypy, Motor...	OMIM:619725
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior	OMIM:619470
Severe Intellectual Disability And Progressive Spastic Paraplegia	Difficulty walking, Waddling gait, Excessive shyness, Dystonia, Motor stereotypy, Overweight	ORPHA:280763
Dystonia 12	Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism	OMIM:128235
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,...	OMIM:606159
Early-Onset Autosomal Dominant Alzheimer Disease	Agitation, Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Ataxia, Dis...	ORPHA:1020
Atypical Rett Syndrome	Pill-rolling tremor, Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Impair...	ORPHA:3095
Parkinson Disease 7, Autosomal Recessive Early-Onset	Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ...	OMIM:606324
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:615362
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Tremor, Myoclonus	OMIM:615400
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level	OMIM:177735
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Progressive language deterioration, Ataxia, Reduced social reciprocity, Motor ster...	OMIM:610042
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Inability to walk, Hyperactivity, Tremor, Motor stereotypy, Self-injurious behavior, Bruxism, Par...	OMIM:618718
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia	OMIM:600363
Spinocerebellar Ataxia Type 14	Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus	ORPHA:98763
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior	OMIM:239500
Developmental And Epileptic Encephalopathy 58	Inability to walk, Motor stereotypy	OMIM:617830
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level	ORPHA:556037
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperkalemia, Failure to thrive, Hyponatremia	OMIM:264350
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur...	ORPHA:420485
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Tongue thrusting, Emotional lability, Recurrent hand flapping, Short attention...	OMIM:619580
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia, Polyphagia, Reduced social reciprocity, Aggressive behavior	ORPHA:329249
Parkinson Disease 17	Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Dystonia 24	Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm 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, Tremor, Ataxia, Small for gestational age	OMIM:278780
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Tremor, Decreased body weight, Short attention span, Motor stereotypy, Attention d...	OMIM:618342
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradykinesia, Inability to walk, Broad-based gait, Short attention span, Impulsivity, Dystonia, A...	OMIM:617854
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Hyperphenylalaninemia, Rigidity, Dystonia, Ata...	OMIM:261640
Young-Onset Parkinson Disease	Bradykinesia, Agitation, Gait imbalance, Depression, Tremor, Short attention span, Impulsivity, F...	ORPHA:2828
Baker-Gordon Syndrome	Inability to walk, Dystonia, Ataxia, Motor stereotypy, Self-injurious behavior, Choreoathetosis	OMIM:618218
Spinocerebellar Ataxia 7	Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore...	OMIM:164500
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia	OMIM:240200
Pigmented Nodular Adrenocortical Disease, Primary, 1	Agitation, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmente...	OMIM:610489
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Irritability, Failure to thrive, Difficulty walking, Motor stereotypy	OMIM:617393
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level	ORPHA:556030
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Generalized lipodystrophy, Spasticity, Tremor, Poor motor coordination, Lim...	ORPHA:363400
Alg8-Cdg	Camptodactyly, Failure to thrive, Hyponatremia, Ataxia, Small for gestational age, Abnormality of...	ORPHA:79325
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Short...	ORPHA:449291
Neurodegeneration With Brain Iron Accumulation 7	Increased circulating very long-chain fatty acid concentration, Lower limb spasticity, Tremor, Dy...	OMIM:617916
Hypermanganesemia With Dystonia 2	Bradykinesia, Babinski sign, Oromandibular dystonia, Generalized dystonia, Scissor gait, Spastici...	OMIM:617013
Pigmented Nodular Adrenocortical Disease, Primary, 2	Agitation, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical diseas...	OMIM:610475
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Emotional lability, Cognitive impairment, Progressive language deterioration, Loss of...	ORPHA:79264
Christianson Syndrome	Truncal ataxia, Cachexia, Gait ataxia, Dystonia, Inappropriate laughter, Dysphagia, Motor stereotypy	ORPHA:85278
Spinocerebellar Ataxia 23	Limb ataxia, Babinski sign, Tremor, Gait ataxia, Dysmetria	OMIM:610245
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Stereotypical hand wringing, Gait disturbance, Inappropriate laughter, Ataxia, Mot...	OMIM:614104
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Chorea, Compulsive behaviors, Stereotypical hand wringing, Gait ataxia, Dyston...	OMIM:618917
Autosomal Spastic Paraplegia Type 58	Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba...	ORPHA:397946
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Alpha-Methylacyl-Coa Racemase Deficiency	Increased circulating very long-chain fatty acid concentration, Spasticity, Tremor, Intention tre...	OMIM:614307
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response	OMIM:617028
Hypermanganesemia With Dystonia 1	Bradykinesia, Increased total iron binding capacity, Abnormality of extrapyramidal motor function...	OMIM:613280
Parkinsonism-Dystonia 3, Childhood-Onset	Depression, Chorea, Ataxia, Reduced social reciprocity, Dysphagia, Aggressive behavior	OMIM:619738
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n...	OMIM:300539
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Failure to thrive, Hyponatremia	OMIM:614736
Epilepsy, Progressive Myoclonic, 6	Tremor, Ataxia, Elevated circulating creatine kinase concentration, Myoclonus	OMIM:614018
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Compulsive behaviors, Repetitive compulsive behavior, Motor stereotypy, Attention ...	ORPHA:352490
Snakebite Envenomation	Paralysis, Hyponatremia, Pseudobulbar paralysis, Respiratory paralysis	ORPHA:449285
Leukodystrophy, Hypomyelinating, 11	Spasticity, Tremor, Failure to thrive, Ataxia, Myoclonus	OMIM:616494
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus	OMIM:618587
Saccharopinuria	Elevated plasma citrulline, Tremor, Hypercystinemia, Hyperlysinemia, Gait ataxia, Hyperammonemia,...	ORPHA:3124
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Ataxia, Abnor...	OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Tremor, Elevated circulating creatine kinase concentration, Gait ataxia, Ataxia, Dysmetria	OMIM:618387
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Agitation, Tremor, Dystonia, Unsteady gait, Dysphagia, Motor stereotypy, Bruxism	OMIM:617435
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis, Hyponatremia	ORPHA:83601
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Crigler-Najjar Syndrome Type 1	Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait...	OMIM:600116
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Increased circulating renin level, Hyponatremia, Weight loss, Failure to thrive in ...	ORPHA:171876
Dystonia 7, Torsion	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,...	OMIM:602124
Glycosylphosphatidylinositol Biosynthesis Defect 15	Osteopenia, Apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria	OMIM:617810
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Rett Syndrome	Bradykinesia, Agitation, Difficulty walking, Inability to walk, Stereotypical hand wringing, Gait...	ORPHA:778
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Depression, Short attention span, Failure to thrive, Dysphoria, Motor stereotypy, ...	OMIM:620242
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Tremor, Dystonia, Ataxia, Choreoathetosis	OMIM:612126
Monomelic Amyotrophy	Fasciculations, Tremor	ORPHA:65684
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Motor stereotypy, Attention deficit hyperactivity disorder, Aggres...	OMIM:301029
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Hypertonia, Tetraplegia, Hypoproteinemia, Increased total bilirubin, Failur...	OMIM:603553
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia	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	Irritability, Inability to walk, Chorea, Short attention span, Exaggerated startle response, Fail...	OMIM:617864
Bartter Syndrome, Type 5, Antenatal, Transient	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:300971
X-Linked Dystonia-Parkinsonism	Bradykinesia, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with favorable response to d...	ORPHA:53351
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav...	ORPHA:101039
Japanese Encephalitis	Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extrapyramidal ...	ORPHA:79139
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Rigidity, Dystonia, Sma...	ORPHA:70594
Spinocerebellar Ataxia, Autosomal Recessive 2	Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Dysmetria	OMIM:213200
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flappin...	ORPHA:98794
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Dystonia, Ataxia, Parkinsonism	OMIM:618049
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyperuricemia, Increased blood urea nitrogen, Failure to thrive, Hyponatremia, Hypomagnesemia	OMIM:613845
Hereditary Coproporphyria	Atypical scarring of skin, Hyponatremia, Abnormal circulating porphyrin concentration	ORPHA:79273
Late Infantile Neuronal Ceroid Lipofuscinosis	Obsessive-compulsive trait, Inability to walk, Hyperactivity, Mental deterioration, Low frustrati...	ORPHA:168491
Infantile Neuronal Ceroid Lipofuscinosis	Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dystonia, Ataxia, Myo...	ORPHA:79263
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Delirium, R...	ORPHA:100924
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Motor stereotypy	OMIM:615282
Spinocerebellar Ataxia With Epilepsy	Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Hyperalaninemia, Gait ataxia, Dystonia...	ORPHA:254881
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c...	ORPHA:363654
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Tremor, Ataxia, Myoclonus, Dysmetria	OMIM:619028
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Wrist flexion contrac...	OMIM:300055
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Parkinson Disease 14, Autosomal Recessive	Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus...	OMIM:612953
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hypochloremia, Increased circulating renin level, Failure to thrive, Hyponatremia	OMIM:214700
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Chorea, Recurrent hand flapping, Slender build, Motor stereotypy, Attention defici...	OMIM:617600
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Increas...	ORPHA:90793
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Developmental And Epileptic Encephalopathy 42	Hypertonia, Tremor, Athetosis, Ataxia, Flexion contracture	OMIM:617106
Intellectual Developmental Disorder, Autosomal Dominant 70	Failure to thrive, Hyponatremia	OMIM:620157
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Tremor, Hemiparesis, Dystonia, Parkinsonism	ORPHA:306669
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Pain insensitivity, Motor stereotypy, Attention deficit hyperactivity...	OMIM:618825
Metachromatic Leukodystrophy, Adult Form	Difficulty walking, Progressive psychomotor deterioration, Abnormal social behavior, Memory impai...	ORPHA:309271
Beta-Propeller Protein-Associated Neurodegeneration	Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis	ORPHA:329284
Developmental And Epileptic Encephalopathy 6B	Inability to walk, Chorea, Dystonia, Ataxia, Motor stereotypy, Choreoathetosis	OMIM:619317
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, ...	ORPHA:240085
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Behr Syndrome	Babinski sign, Adductor longus contractures, Truncal ataxia, Tremor, Progressive spasticity, Freq...	OMIM:210000
Dystonia 2, Torsion, Autosomal Recessive	Torsion dystonia, Tremor, Blepharospasm, Torticollis	OMIM:224500
Xq28 (MECP2) duplication	Inability to walk, Depression, Gait ataxia, Failure to thrive, Dysphagia, Motor stereotypy	DECIPHER:45
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Recurrent hand flapping, Compulsive behaviors, Gait disturbance, Failure to thrive, Ataxia, Motor...	OMIM:300986
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Hypernatremia, Weight loss, Osteomalacia, ...	OMIM:619381
Ddost-Cdg	Osteopenia, Oromotor apraxia, Tremor, Failure to thrive, Lipodystrophy	ORPHA:300536
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit...	OMIM:618877
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Titubation,...	OMIM:619405
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Elevated circulating creatine ki...	OMIM:208920
Aceruloplasminemia	Limb ataxia, Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:48818
Hartsfield Syndrome	Craniosynostosis, Hypernatremia	OMIM:615465
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac...	OMIM:620141
48,Xxyy Syndrome	Depression, Tremor, Obesity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder	ORPHA:10
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Gait disturbance, Failure to thrive, Dystonia, Reduced social reciprocity, Moto...	OMIM:300352
Cri-Du-Chat Syndrome	Difficulty walking, Hyperactivity, Short attention span, Oppositional defiant disorder, Motor ste...	OMIM:123450
Chromosome 15Q11.2 Deletion Syndrome	Memory impairment, Compulsive behaviors, Diminished ability to concentrate, Ataxia, Reduced socia...	OMIM:615656
Mirage Syndrome	Hyperkalemia, Radial club hand, Paraplegia, Decreased body weight, Hyponatremia	OMIM:617053
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Obesity, Dystonia, Reduced social reciprocity, Motor stereotypy, Attention def...	ORPHA:261197
Adrenocortical Carcinoma	Irritability, Increased circulating androstenedione concentration, Elevated serum 11-deoxycortiso...	ORPHA:1501
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Periodic paralysis, Tremor, Weight loss	OMIM:613239
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Oculomotor apraxia, Spasticity, Tremor, Osteoporosis, Gait ataxia, Dysmetria	ORPHA:529665
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res...	OMIM:606693
Atypical Progressive Supranuclear Palsy Syndrome	Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr...	ORPHA:99750
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Depression, Cognitive impairment, Motor stereotypy, Attention deficit hypera...	ORPHA:98784
Cystathioninuria	Tremor, Cystathioninemia	ORPHA:212
Porphyria Variegata	Scarring, Respiratory paralysis, Hyponatremia, Abnormal circulating porphyrin concentration, Tetr...	ORPHA:79473
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, Aggressive behavior	OMIM:620292
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Ataxia, Motor stereotypy	ORPHA:530983
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Memory impairment, Depression, Emotional lability, Macr...	ORPHA:189427
Leukodystrophy, Hypomyelinating, 6	Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis	OMIM:612438
2Q23.1 Microdeletion Syndrome	Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts o...	ORPHA:228402
Rett Syndrome	Truncal ataxia, Cachexia, Stereotypical hand wringing, Gait ataxia, Gait apraxia, Dystonia, Bruxi...	OMIM:312750
Short Stature, Developmental Delay, And Congenital Heart Defects	Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st...	OMIM:617044
Metachromatic Leukodystrophy, Juvenile Form	Progressive psychomotor deterioration, Abnormal social behavior, Emotional lability, Short attent...	ORPHA:309263
Whipple Disease	Cachexia, Hyponatremia, Ataxia, Myoclonus, Abnormal pyramidal sign	ORPHA:3452
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Hyponatremia, Obesity, Hypoa...	ORPHA:247353
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Impaired tactile sensation, Tremor, Gait ataxia, Ataxia, Motor stereotypy	OMIM:619092
Dystonia 1, Torsion, Autosomal Dominant	Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia,...	OMIM:128100
Pyruvate Dehydrogenase Deficiency	Osteolytic defects of the middle phalanx of the 4th toe, Multiple lipomas, Spasticity, Tremor, Ce...	ORPHA:765
Developmental And Epileptic Encephalopathy 30	Motor stereotypy	OMIM:616341
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Motor stereotypy	OMIM:619690
Familial Hypoaldosteronism	Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level	ORPHA:427
Autism, Susceptibility To, X-Linked 2	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300495
Perry Syndrome	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss	ORPHA:178509
Parkinson-Dementia Syndrome	Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism	OMIM:260540
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Legionnaires Disease	Hyponatremia, Cellulitis, Ataxia	ORPHA:549
Familial Glucocorticoid Deficiency	Hyperkalemia, Tetraplegia, Failure to thrive, Hyponatremia, Weight loss	ORPHA:361
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia	OMIM:608688
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperkinetic movements, Limb hypertonia, Tremor, Hyperphenylalaninemia, Rigidity, Dystonia, Chore...	OMIM:233910
Congenital Isolated Acth Deficiency	Hyponatremia	ORPHA:199296
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Tremor, Elevated circulating creatine kinase concentration	OMIM:313200
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Spastic gait, Scissor gait, Truncal ataxia, Motor stereotypy, Attention deficit hyperactivity dis...	OMIM:619121
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypokalemia, Hypochloremia, Failure to thrive, Hyponatremia	OMIM:613090
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypertonia, Hypokalemia, Spasticity, Failure to thrive, Hyponatremia, Ataxia, Myoclonus	OMIM:618426
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypertonia, Oculogyric crisis, Tremor, Hyperphenylalaninemia, Cerebral palsy, Hypomagnesemia, Par...	ORPHA:1578
Infant Botulism	Hyponatremia, Cerebral palsy	ORPHA:178478
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Spasticity, Hyponatremia	OMIM:617913
Autism, Susceptibility To, 3	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:608049
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa...	OMIM:137440
Wolcott-Rallison Syndrome	Hyperbilirubinemia, Decreased body weight, Hyperammonemia, Hyponatremia, Hypoalbuminemia	ORPHA:1667
Renal Hypoplasia, Bilateral	Hyperkalemia, Failure to thrive, Hyponatremia, Small for gestational age	ORPHA:97362
Brain Dopamine-Serotonin Vesicular Transport Disease	Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Limb dystonia, A...	ORPHA:352649
Late-Onset Isolated Acth Deficiency	Generalized bone demineralization, Hyperuricemia, Failure to thrive, Hyponatremia, Hypercalcemia,...	ORPHA:199299
Herpes Simplex Virus Encephalitis	Hyponatremia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Inability to walk, Depression, Chorea, Hostility, Decreased body weight, Ataxia, Dysphagia, Repet...	OMIM:300260
Adrenal Hypoplasia, Congenital	Failure to thrive, Hyponatremia	OMIM:300200
Spinocerebellar Ataxia 42	Spastic gait, Babinski sign, Tremor, Ataxia, Spastic ataxia, Abnormal pyramidal sign	OMIM:616795
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria	ORPHA:1170
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, ...	ORPHA:101
Developmental And Speech Delay Due To Sox5 Deficiency	Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy, Aggressive b...	ORPHA:313892
Galloway-Mowat Syndrome 6	Decreased body weight, Motor stereotypy, Paroxysmal bursts of laughter	OMIM:618347
Alg12-Cdg	Abnormal bone ossification, Abnormal adipose tissue morphology, Camptodactyly, Failure to thrive,...	ORPHA:79324
Tay-Sachs Disease	Inability to walk, Memory impairment, Depression, Tremor, Short attention span, Exaggerated start...	ORPHA:845
Combined Oxidative Phosphorylation Deficiency 3	Tremor, Elevated circulating creatine kinase concentration, Hyperammonemia, Hyponatremia, Dystoni...	OMIM:610505
Aromatic L-Amino Acid Decarboxylase Deficiency	Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl...	OMIM:608643
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Depression, Tremor, Gait disturbance, Motor stereotypy, Overweight, Self-mutilation	ORPHA:457240
Radio-Tartaglia Syndrome	Gait imbalance, Tremor, Impulsivity, Obesity, Ataxia, Dysphagia, Motor stereotypy, Attention defi...	OMIM:619312
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Chorea, Head-banging, Dysphagia, Mo...	ORPHA:2388
Smith-Magenis Syndrome	Hyperactivity, Head-banging, Impaired pain sensation, Self hugging, Increased body weight, Motor ...	OMIM:182290
Childhood Absence Epilepsy	Attention deficit hyperactivity disorder, Depression, Punding, Abnormal social behavior	ORPHA:64280
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Inability to walk, Chorea, Dystonia, Motor stereotypy, Self-injurious behavi...	OMIM:618004
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620502
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Stereotypical hand wringing, Skin-picking, Obesity, Motor stereotypy, Pain insensi...	OMIM:600430
Coffin-Siris Syndrome 6	Attention deficit hyperactivity disorder, Tics, Motor stereotypy	OMIM:617808
Ataxia With Vitamin E Deficiency	Hypertonia, Dysdiadochokinesis, Tremor, Hemiplegia/hemiparesis, Dystonia, Ataxia, Abnormal pyrami...	ORPHA:96
Obesity, Hyperphagia, And Developmental Delay	Obesity, Polyphagia, Motor stereotypy	OMIM:613886
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Torticollis, Inability to walk, Delayed early-childhood social milestone development, Emotional l...	ORPHA:300570
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Failure to thrive, Stereotyp...	OMIM:300912
Parkinson Disease 21	Bradykinesia, Rigidity, Tremor, Parkinsonism	OMIM:616361
Pelizaeus-Merzbacher Disease	Writer's cramp, Tremor, Intention tremor, Spastic paraplegia, Failure to thrive, Head titubation,...	OMIM:312080
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Tremor, Compulsive behaviors, Dysphagia, Motor stereotypy, Pain insensitivity, Attention deficit ...	OMIM:617061
Rabin-Pappas Syndrome	Failure to thrive in infancy, Obesity, Hyponatremia	OMIM:620155
Spinocerebellar Ataxia Type 21	Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia,...	ORPHA:98773
Snijders Blok-Campeau Syndrome	Attention deficit hyperactivity disorder, Unsteady gait, Motor stereotypy, Broad-based gait	OMIM:618205
Familial Dysautonomia	Hyponatremia, Ataxia, Osteolysis	ORPHA:1764
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Motor stereotypy, Aggressive behavior	OMIM:615541
Cholera	Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia	ORPHA:173
Rett Syndrome, Congenital Variant	Irritability, Tongue thrusting, Chorea, Athetosis, Dystonia, Reduced social reciprocity, Motor st...	OMIM:613454
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign	OMIM:608768
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating renin level, Failure to thrive, Hyperkalemia, Hyponatremia	ORPHA:90791
Blepharophimosis-Impaired Intellectual Development Syndrome	Attention deficit hyperactivity disorder, Low frustration tolerance, Motor stereotypy, Overfriend...	OMIM:619293
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Compulsive behaviors, Gait ataxia, Failure to thrive, Motor stereotypy, Attention deficit...	ORPHA:476126
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Failure to thrive, Hyponatremia, Hypophosphatemia, Hypoc...	ORPHA:411634
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Short attention span, Exaggerated startle response, Dystonia, Ataxia	ORPHA:438216
Den Hoed-De Boer-Voisin Syndrome	Agitation, Inability to walk, Tremor, Decreased body weight, Short attention span, Stereotypical ...	OMIM:619229
Bartter Syndrome Type 4	Severe failure to thrive, Hypokalemia, Hypochloremia, Increased circulating renin level, Failure ...	ORPHA:89938
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Difficulty walking, Broad-based gait, Gait ataxia, Dystonia, Motor stereotypy	OMIM:617807
Niemann-Pick Disease Type C	Abnormal social behavior, Axial dystonia, Depression, Low frustration tolerance, Chorea, Tremor, ...	ORPHA:646
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age	ORPHA:391673
Acute Intermittent Porphyria	Hyponatremia, Pseudobulbar paralysis, Tremor, Respiratory paralysis	ORPHA:79276
Gm2-Gangliosidosis, Ab Variant	Chorea, Dystonia, Exaggerated startle response, Dementia	OMIM:272750
Spinocerebellar Ataxia Type 27	Limb ataxia, Truncal ataxia, Tremor, Gait ataxia, Hand tremor	ORPHA:98764
Smith-Magenis Syndrome	Impaired pain sensation, Gait disturbance, Failure to thrive in infancy, Obesity, Motor stereotyp...	ORPHA:819
Metachromatic Leukodystrophy, Late Infantile Form	Tip-toe gait, Abnormal social behavior, Emotional lability, Gait ataxia, Progressive gait ataxia	ORPHA:309256
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618504
Acute Adrenal Insufficiency	Hyperkalemia, Hyperuricemia, Increased circulating renin level, Failure to thrive, Hyponatremia, ...	ORPHA:95409
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Compulsive behaviors, Obesity, Ataxia, Motor stereotypy, Aggressive behavior	OMIM:618430
Intellectual Developmental Disorder, Autosomal Dominant 38	Hair-pulling, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior	OMIM:616393
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Decreased circulating inhibin B concentration, Abnormal response to human chorio...	ORPHA:95699
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Hyperactivity, Failure to thrive, Motor stereotypy, Small for gestatio...	OMIM:610883
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism, Rigidity	OMIM:614251
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Abnormal social behavior, Memory impairment, Intention tremor, Nonprogressive cerebellar ataxia, ...	ORPHA:314647
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyperkalemia, Reduced bone mineral density, Abnormal circulating cholesterol concentration, Osteo...	ORPHA:168558
48,Xxxy Syndrome	Irritability, Abnormal social behavior, Tremor, Obesity, Abnormal aggressive, impulsive or violen...	ORPHA:96263
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Oral-pharyngeal dysphagia, Dystonia, Motor stereotypy, Self-injurious behavior	ORPHA:208447
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyperkalemia, Reduced bone mineral density, Abnormal circulating cholesterol concentration, Osteo...	ORPHA:289548
Leukodystrophy, Hypomyelinating, 13	Irritability, Failure to thrive, Ataxia, Exaggerated startle response	OMIM:616881
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Tremor, Hypoproteinemia, Spastic paraplegia, Hyponatremia, Ataxia, Parkinso...	ORPHA:167
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Failure to thrive, Hyponatremia	ORPHA:90790
Addison Disease	Hyperkalemia, Generalized bone demineralization, Hyperuricemia, Increased circulating renin level...	ORPHA:85138
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis	OMIM:300894
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Motor stereotypy	OMIM:615637
Houge-Janssens Syndrome 3	Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy	OMIM:618354
Holoprosencephaly	Congenital diaphragmatic hernia, Chorea, Spasticity, Omphalocele, Hyponatremia, Dystonia, Failure...	ORPHA:2162
Cortisone Reductase Deficiency 2	Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche	OMIM:614662
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav...	ORPHA:240071
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor...	ORPHA:199351
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Oculomotor apraxia, Transient hyperphenylalaninemia, Spasticity, Tremor, Hyper...	OMIM:612716
Niemann-Pick Disease, Type C2	Dystonia, Ataxia, Dysphagia, Motor stereotypy, Dementia	OMIM:607625
Cystinosis, Nephropathic	Rickets, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulatin...	OMIM:219800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperactivity, Impulsivity, Cognitive impairment, Head titubation, Ataxia, Bruxism, Aggressive be...	OMIM:619475
Sandhoff Disease	Impaired temperature sensation, Ataxia, Progressive psychomotor deterioration, Exaggerated startl...	OMIM:268800
Nmda Receptor Encephalitis	Agitation, Oculogyric crisis, Memory impairment, Depression, Chorea, Confusion, Short attention s...	ORPHA:217253
Mitochondrial Complex I Deficiency, Nuclear Type 32	Failure to thrive, Hyponatremia, Small for gestational age	OMIM:618252
Oculocerebrorenal Syndrome Of Lowe	Hypokalemia, Inguinal hernia, Abnormal dental enamel morphology, Clonus, Failure to thrive, Hypon...	ORPHA:534
Trichotillomania	Compulsive behaviors, Hair-pulling	OMIM:613229
Ritscher-Schinzel Syndrome 4	Chorea, Athetosis, Impulsivity, Ataxia, Dysphagia, Motor stereotypy, Aggressive behavior	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	Gait ataxia, Impaired pain sensation, Motor stereotypy, 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, Motor stereotypy, Overweight, Small for ...	OMIM:617796
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Oromandibular dystonia, Tremor, Compulsive behaviors, Failure to thrive, Motor stereotypy, Attent...	OMIM:620494
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria	OMIM:618056
Neurodegeneration With Brain Iron Accumulation 4	Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Spasticity, ...	OMIM:614298
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Ataxia, Motor stereotypy, Head tremor	OMIM:619428
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy	ORPHA:1727
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Blepharospasm, Ataxia, Myoclonus	OMIM:607876
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Hyperkalemia, Cachexia, Hyponatremia, Failure to thrive, Weight loss, Hyper...	ORPHA:275761
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypokalemia, Hypochloremia, Failure to thrive, Hyponatremia	OMIM:602522
Shigellosis	Abnormal blood ion concentration, Failure to thrive in infancy, Hyponatremia	ORPHA:810
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Abnormal circulating corticosterone le...	ORPHA:90796
Developmental And Epileptic Encephalopathy 66	Motor stereotypy, Broad-based gait	OMIM:618067
Adenohypophysitis	Hyponatremia	ORPHA:95512
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Oculomotor apraxia, Chorea, Tremor, Elevated circulating creatine kinase concentrati...	OMIM:606002
White-Sutton Syndrome	Irritability, Hyperactivity, Waddling gait, Tics, Failure to thrive, Obesity, Overfriendliness, M...	OMIM:616364
Stiff Person Spectrum Disorder	Emotional lability, Difficulty walking, Exaggerated startle response, Falls	ORPHA:3198
3P25.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy	ORPHA:435638
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Failure to thrive, Dysphagia, Exaggerated startle response, Cognitive impairment	OMIM:617527
4Q21 Microdeletion Syndrome	Self-injurious behavior, Tremor, Motor stereotypy	ORPHA:238750
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Babinski sign, Hypertonia, Spasticity, Tremor, Upper motor neuron dysfunction, Dysd...	ORPHA:99027
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	Head-banging, Short attention span, Frequent temper tantrums, Failure to thrive, Motor stereotypy...	OMIM:619575
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir...	ORPHA:90038
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:613080
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Motor stereotypy, Self-biting, Aggressive behavior	ORPHA:3306
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy, Head-banging, Frequent temper tantrums	OMIM:619103
Sheehan Syndrome	Hyponatremia, Obesity	ORPHA:91355
Phelan-Mcdermid Syndrome	Tongue thrusting, Broad-based gait, Impaired pain sensation, Unsteady gait, Reduced social recipr...	OMIM:606232
Fg Syndrome Type 1	Abnormal social behavior, Broad-based gait, Compulsive behaviors, Slender build, Attention defici...	ORPHA:93932
Pituitary Apoplexy	Hyponatremia	ORPHA:95613
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Increased circulating ACTH level, Pituitary adenoma, Abnormal fear-induced be...	OMIM:219090
Parkinson Disease, Late-Onset	Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism	OMIM:168600
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620073
Chromosome 5P13 Duplication Syndrome	Small for gestational age, Self-injurious behavior, Compulsive behaviors, Motor stereotypy	OMIM:613174
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Hyponatremia	ORPHA:293978
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors, Motor stereotypy	ORPHA:1001
Coffin-Siris Syndrome 7	Hyperactivity, Severe temper tantrums, Compulsive behaviors, Motor stereotypy	OMIM:618027
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Abnormal social behavior, Head-banging, Compulsive behaviors, Skin-pick...	ORPHA:177907
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Irritability, Motor stereotypy, Aggressive behavior	ORPHA:391307
Wiedemann-Steiner Syndrome	Hyperactivity, Low frustration tolerance, Short attention span, Failure to thrive, Dysphagia, Mot...	ORPHA:319182
Alazami Syndrome	Self-mutilation, Abnormal eating behavior, Motor stereotypy, Stereotypical hand wringing	ORPHA:319671
Infection-Related Hemolytic Uremic Syndrome	Hypocalcemia, Hyponatremia, Hemiparesis, Hyperkalemia	ORPHA:544482
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Hypertonia, Tremor, Spasticity, Rigidity	OMIM:176500
Intellectual Developmental Disorder, Autosomal Dominant 34	Bruxism, Motor stereotypy, Broad-based gait	OMIM:616351
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Impaired vibration sensation in the lower limbs, Difficulty walking, Exaggerated startle response	ORPHA:320406
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Inability to walk, Exaggerated startle response	OMIM:620114
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Low frustration tolerance, Gait ataxia, Motor stereotypy, Self-mutilation	OMIM:300486
X-Linked Intellectual Disability, Cantagrel Type	Motor stereotypy	ORPHA:85277
Cystinosis	Polydipsia, Failure to thrive, Gait disturbance, Motor stereotypy	ORPHA:213
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Respiratory paralysis, Tetraplegia, Tremor, Mildly elev...	ORPHA:79102
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Hyponatremia	OMIM:201810
Apparent Mineralocorticoid Excess	Polydipsia, Decreased circulating renin level, Decreased circulating aldosterone level, Abnormali...	ORPHA:320
Transketolase Deficiency	Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st...	ORPHA:488618
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Motor stereotypy	OMIM:617751
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Failure to thrive, Inappropriate laughter, Motor stereotypy	OMIM:615802
Parkinson Disease 20, Early-Onset	Bradykinesia, Tremor, Involuntary movements, Rigidity, Dystonia, Parkinsonism, Eyelid apraxia	OMIM:615530
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Decreased body weight, Motor stereotypy, Attention deficit hyperactivity...	OMIM:619005
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Dysphagia, Motor stereotypy	OMIM:617802
5Q14.3 Microdeletion Syndrome	Motor stereotypy	ORPHA:228384
Liver Disease, Severe Congenital	Inguinal hernia, Hypocalcemia, Hyperbilirubinemia, Poor fine motor coordination, Hypoproteinemia,...	OMIM:619991
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal temper tantrums, Low frustration tolerance, Ataxia, Unsteady gait, Motor stereotypy, Agg...	ORPHA:457279
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Motor stereotypy, Impulsivity, Aggressive behavior	OMIM:618914
Congenital Disorder Of Glycosylation, Type Iia	Stereotypical hand wringing, Failure to thrive, Unsteady gait, Motor stereotypy, Self-mutilation,...	OMIM:212066
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Irritability, Hair-pulling, Hyperactivity, Dysphagia, 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	Hair-pulling, Nail-biting, Broad-based gait, Emotional lability, Polyphagia, Fixated interests, P...	OMIM:620330
Spastic Tetraplegia And Axial Hypotonia, Progressive	Ataxia, Exaggerated startle response	OMIM:618598
Helsmoortel-Van Der Aa Syndrome	Irritability, Hyperactivity, Polyphagia, Compulsive behaviors, Failure to thrive, Obesity, Dyspha...	OMIM:615873
African Trypanosomiasis	Abnormality of renin-angiotensin system, Irritability, Impaired proprioception, Akinesia, Aggress...	ORPHA:3385
7Q11.23 Microduplication Syndrome	Hyperactivity, Polyphagia, Obesity, Collectionism, Reduced social reciprocity, Motor stereotypy, ...	ORPHA:96121
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Chorea, Dystonia, Ataxia, Repetitive compulsive behavior, Motor stereotypy, Choreoathetosis, Self...	ORPHA:522077
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv...	ORPHA:353281
Stiff-Person Syndrome	Depression, Opisthotonus, Exaggerated startle response	OMIM:184850
Van Esch-O'Driscoll Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Excessive shyness	OMIM:301030
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Motor stereotypy	ORPHA:397612
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Rauch-Steindl Syndrome	Hyperactivity, Failure to thrive, Motor stereotypy, Aggressive behavior	OMIM:619695
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Hypochloremia, Failure to thrive, Hyponatremia, Weight loss	ORPHA:90794
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Limb dystonia, Inability to walk, Motor stereotypy	ORPHA:457351
Bainbridge-Ropers Syndrome	Inability to walk, Recurrent hand flapping, Failure to thrive, Motor stereotypy, Self-injurious b...	OMIM:615485
Kleefstra Syndrome 1	Obesity, Compulsive behaviors, Motor stereotypy, Aggressive behavior	OMIM:610253
Cushing Disease	Memory impairment, Depression, Emotional lability, Increased urinary cortisol level, Adrenal hype...	ORPHA:96253
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Dystonia, Ataxia, Dysphagia, Motor stereotypy	ORPHA:496641
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Gait disturbance, Failure to thrive, Motor stereotypy, Attention deficit hyperactivity disorder, ...	ORPHA:464311
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Hyperactivity, Short attention span, Impulsivity, Cognitive impairment,...	ORPHA:580
Tuberous Sclerosis Complex	Abnormal social behavior, Pancreatic endocrine tumor, Hyperactivity, Depression, Pheochromocytoma...	ORPHA:805
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Obesity, Hyperlipidemia	ORPHA:293987
Plaa-Associated Neurodevelopmental Disorder	Failure to thrive, Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response	ORPHA:521426
Combined Oxidative Phosphorylation Deficiency 58	Difficulty walking, Ataxia, Exaggerated startle response, Gait ataxia	OMIM:620451
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Obesity, Short attention span, Motor stereotypy, Aggressive behavior	OMIM:301066
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Gait ataxia, Ataxia, Unsteady gait, Motor stereotypy, Attention ...	OMIM:614756
Joubert Syndrome 6	Ataxia, Motor stereotypy	OMIM:610688
Megalocornea-Intellectual Disability Syndrome	Ataxia, Motor stereotypy	ORPHA:2479
Asparagine Synthetase Deficiency	Irritability, Tremor, Failure to thrive, Exaggerated startle response	OMIM:615574
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Dysphagia, Motor stereotypy	ORPHA:572013
White-Sutton Syndrome	Hyperactivity, Compulsive behaviors, Obesity, Motor stereotypy, Self-injurious behavior, Aggressi...	ORPHA:468678
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyperkalemia, Decreased circulating renin level, Camptodactyly, Hyponatremia, Craniosynostosis, S...	OMIM:201750
Kleefstra Syndrome	Obesity, Motor stereotypy, Self-injurious behavior, Self-mutilation, Aggressive behavior	ORPHA:261494
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Increased serum bile acid concentration	ORPHA:731
Neurodegeneration With Brain Iron Accumulation 1	Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Tremor, Bl...	OMIM:234200
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Motor stereotypy	ORPHA:529965
Dihydropyrimidine Dehydrogenase Deficiency	Irritability, Abnormal aggressive, impulsive or violent behavior, Inability to walk, Abnormal soc...	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
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In...	ORPHA:99889
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, Dysphagia, Motor stereotypy, Choreoathetosis	OMIM:619777
Hydroxykynureninuria	Motor stereotypy	ORPHA:79155
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv...	ORPHA:353277
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Truncal ataxia, Gait ataxia, Ataxia, Dysphagia, Motor stereotypy, Pain insensit...	OMIM:617330
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Compulsive behaviors, Frequent temper tantrums, Failure to thrive, Motor stereotyp...	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	Impaired pain sensation, Hyperactivity, Bruxism, Hair-pulling	ORPHA:48652
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Koolen-De Vries Syndrome Due To A Point Mutation	Abnormal social behavior, Slender build, Inappropriate laughter, Overfriendliness, Attention defi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Abnormal social behavior, Slender build, Inappropriate laughter, Overfriendliness, Attention defi...	ORPHA:363958
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Opisthotonus, Inability to walk, Motor stereotypy	ORPHA:508533
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Gait disturbance, Failure to thrive, Motor stereotypy, Small for gestational age	ORPHA:464306
Mend Syndrome	Hyperactivity, Failure to thrive, Abnormal social behavior, Aggressive behavior	ORPHA:401973
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Kinsship Syndrome	Failure to thrive, Bruxism, Motor stereotypy	OMIM:619297
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Gait ataxia, Failure to thrive, Stereotypical body rocking, 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	Obesity, Difficulty walking, 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	Gait imbalance, Abnormal social behavior, Depression, Tremor, Compulsive behaviors, Gait disturba...	ORPHA:904
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Dysphagia, Exaggerated startle response	OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Attention deficit hyperactivity disorder, Exaggerated startle response, Dysphagia, Motor stereotypy	OMIM:619522
Norrie Disease	Irritability, Cachexia, Failure to thrive, Motor stereotypy, Attention deficit hyperactivity diso...	ORPHA:649
Arboleda-Tham Syndrome	Gait imbalance, Dystonia, Dysphagia, Motor stereotypy	OMIM:616268
1P36 Deletion Syndrome	Polyphagia, Gait disturbance, Failure to thrive, Obesity, Dysphagia, Motor stereotypy, Self-injur...	ORPHA:1606
Primrose Syndrome	Tics, Ataxia, Motor stereotypy, Restlessness, Attention deficit hyperactivity disorder, Self-inju...	OMIM:259050
Ogden Syndrome	Torticollis, Irritability, Dysphagia, Motor stereotypy	OMIM:300855
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Inability to walk, Broad-based gait, Exaggerated startle response, Stereotypical hand wringing, D...	ORPHA:438213
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Small for gestational age, Motor stereotypy	OMIM:309590
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Motor stereotypy	ORPHA:508498
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Failure to thrive, Motor stereotypy, Self-injurious behavior, Truncal obesity	OMIM:612474
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Motor stereotypy	OMIM:616682
Wolf-Hirschhorn Syndrome	Failure to thrive, Small for gestational age, Motor stereotypy	OMIM:194190
Coffin-Siris Syndrome 12	Failure to thrive, Motor stereotypy	OMIM:619325
Mowat-Wilson Syndrome	Inability to walk, Broad-based gait, Impaired pain sensation, Decreased body weight, Ataxia, Redu...	ORPHA:2152
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Motor stereotypy, Aggressive behavior	OMIM:309000
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Motor stereotypy	OMIM:301044
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Inability to walk, Broad-based gait, Impaired pain sensation, Failure to thrive, Dysphagia, Motor...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Inability to walk, Broad-based gait, Impaired pain sensation, Failure to thrive, Dysphagia, Motor...	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

Eye Morphology

X-ray

X-ray

DSS Histology

X-ray

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Dlg4 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data