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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 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
increased bone mineral content	Dlg4^{tm1e(EUCOMM)Wtsi}	HOM	Early adult	5.89×10^-05
decreased locomotor activity	Dlg4^tm1Grnt	HOM	Early adult	6.30×10^-05
tremors	Dlg4^{tm1e(EUCOMM)Wtsi}	HOM	Early adult	7.27×10^-09
decreased total body fat amount	Dlg4^{tm1e(EUCOMM)Wtsi}	HOM	Early adult	5.30×10^-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 body weight	Dlg4^tm1Grnt	HOM	Early adult	1.55×10^-08
increased circulating sodium level	Dlg4^{tm1e(EUCOMM)Wtsi}	HOM	Early adult	4.56×10^-06
decreased total body fat amount	Dlg4^tm1Grnt	HOM	Early adult	1.11×10^-05

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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 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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Anti-nuclear antibody assay

Images

7 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 (563 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	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interactions	OMIM:618830
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Intellectual Developmental Disorder, Autosomal Recessive 66	Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:618221
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social...	OMIM:608636
N-Acetylaspartate Deficiency	Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abn...	OMIM:614063
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At...	ORPHA:66624
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity	OMIM:611105
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul...	ORPHA:309169
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ...	ORPHA:275864
Progressive Supranuclear Palsy	Impulsivity, Tremor, Unsteady gait, Dysphagia, Abnormal synaptic transmission, Blepharospasm, Bra...	ORPHA:683
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608631
Trigeminal Neuralgia	Trigeminal neuralgia, Ocular pain, Mandibular pain, Allodynia	ORPHA:221091
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:607373
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:209850
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	OMIM:618709
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Gait disturba...	OMIM:600795
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Complex Regional Pain Syndrome	Limb pain, Allodynia	ORPHA:83452
Pick Disease Of Brain	Frontotemporal dementia, Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropria...	OMIM:172700
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait...	ORPHA:521406
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Foxg1 Syndrome	Dystonia, Inability to walk, Bruxism, Choreoathetosis, Cognitive impairment, Impaired social inte...	ORPHA:561854
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Chronic Bilirubin Encephalopathy	Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia	ORPHA:529799
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Aggressive behavior, Chorea, Bruxism, Falls, Inappropriate laughter, Dystonia, Abnormal r...	OMIM:619150
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora...	ORPHA:168782
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Anterior Cutaneous Nerve Entrapment Syndrome	Back pain, Allodynia, Abdominal pain	ORPHA:51890
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Neuroleptic Malignant Syndrome	Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio...	ORPHA:94093
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Ataxia, Tremor,...	ORPHA:3008
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypernatremia	OMIM:304800
Spinal Muscular Atrophy, Jokela Type	Tremor, Elevated circulating creatine kinase concentration, Fasciculations	OMIM:615048
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Hsd10 Disease	Short attention span, Ataxia, Tremor, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal soci...	ORPHA:391417
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Ataxia	OMIM:616949
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,...	OMIM:615924
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Hyperkalemic Periodic Paralysis	Hyponatremia, Periodic hyperkalemic paralysis, Cerebral palsy, Elevated circulating creatine kina...	ORPHA:682
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Impaired social interactions, Dystonia, Abnormal repe...	OMIM:617820
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype...	OMIM:615751
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti...	OMIM:617862
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Webb-Dattani Syndrome	Spasticity, Hypernatremia, Obesity	OMIM:615926
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations...	ORPHA:276435
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Ataxia, Myoclonus, Dystonia	ORPHA:163921
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cog...	ORPHA:309246
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Failure to thrive, Myoclonus, Dystonia	OMIM:619651
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Dementia, Abdominal cramps, Allodynia, Abdominal pain	OMIM:603041
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Obesity, Compulsive behaviors, Attention deficit hyperactivity disorder, Ab...	ORPHA:444002
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Nephrogenic Diabetes Insipidus	Failure to thrive, Hypernatremia	ORPHA:223
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia	OMIM:261630
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypernatremia, Hypoalbuminemia	OMIM:615508
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Dysphagia, Self-injurious behavior, Att...	OMIM:617695
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:610600
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Emotional lability, Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:203400
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Weight loss	ORPHA:178029
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner...	OMIM:612069
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab...	OMIM:609425
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Dystonia, Ataxia, Aggressive behavior, Tremor, Gait apraxia, Limb ataxia, Gait at...	OMIM:615157
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Ataxia, Confusion, Emotional lability, Agitation, Cognitive impairment, Lethargy, Failure to thri...	ORPHA:927
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S...	OMIM:612716
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Hereditary Geniospasm	Abnormal social behavior, Intention tremor	ORPHA:53372
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abno...	ORPHA:1020
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Chorea, Bradykinesia, Attention deficit hyperactivity disorder, Dystonia,...	OMIM:619725
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor, Periodic paralysis	OMIM:609153
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Aggressive behavior, Tremor, Abnormal repetitive mannerisms	OMIM:619470
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:177735
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Shyness, Overweight, Difficulty walking, Dystonia, Abnormal repetitive mannerisms	ORPHA:280763
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:264350
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo...	OMIM:606159
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m...	OMIM:618718
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Hyperprolinemia, Type I	Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior	OMIM:239500
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit...	OMIM:610042
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin...	ORPHA:33543
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti...	OMIM:619580
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms	OMIM:617830
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Short attention span, Hyperactivity, Aggressive behavior, Tremor, Bruxism, Attention deficit hype...	OMIM:618342
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bra...	OMIM:261640
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Benign Schwannoma	Pain, Allodynia	ORPHA:252164
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv...	OMIM:618218
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Irritability, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking	OMIM:617393
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,...	ORPHA:363400
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulat...	OMIM:614307
Alg8-Cdg	Hyponatremia, Abnormality of subcutaneous fat tissue, Ataxia, Small for gestational age, Camptoda...	ORPHA:79325
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci...	OMIM:617916
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self...	ORPHA:449291
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Limb joint contracture, Elevated circulating creatine kinase concentration, Pa...	OMIM:617013
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Loss o...	ORPHA:79264
Christianson Syndrome	Cachexia, Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Dystonia, Abnormal repe...	ORPHA:85278
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Small for gestational age, Ataxia, Failure to thrive in infancy, Gait disturbance,...	OMIM:614104
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ...	OMIM:618917
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:614736
Snakebite Envenomation	Hyponatremia, Pseudobulbar paralysis, Respiratory paralysis, Paralysis	ORPHA:449285
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Compulsive behaviors, A...	ORPHA:352490
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Bruxism, Dysphagia, Bradykinesia, Agitation, Dystonia, Abnormal repetitive...	OMIM:617435
Saccharopinuria	Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin...	ORPHA:3124
Crigler-Najjar Syndrome Type 1	Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Epilepsy, Progressive Myoclonic, 6	Tremor, Ataxia, Elevated circulating creatine kinase concentration, Myoclonus	OMIM:614018
Leukodystrophy, Hypomyelinating, 11	Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia	OMIM:618387
Young-Onset Parkinson Disease	Short attention span, Restless legs, Dystonia, Impulsivity, Tremor, Depression, Frontal lobe deme...	ORPHA:2828
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni...	ORPHA:171876
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici...	OMIM:620242
Glycosylphosphatidylinositol Biosynthesis Defect 15	Osteopenia, Tremor, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Dystonia, Reduced haptoglobin level	OMIM:612126
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn...	OMIM:301029
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Tetrapl...	OMIM:603553
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ...	ORPHA:101039
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, ...	ORPHA:98794
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Japanese Encephalitis	Hyponatremia, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Elbow flexion co...	ORPHA:79139
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys...	ORPHA:70594
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Failure to thrive	OMIM:613845
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Inability to walk, Chorea, Irritability, Fail...	OMIM:617864
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ...	OMIM:233910
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Obsessive-compulsive trait, Dement...	ORPHA:168491
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic...	ORPHA:79263
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Spast...	OMIM:300055
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive	OMIM:214700
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Atypical scarring of skin	ORPHA:79273
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas...	OMIM:612953
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurrent hand fl...	OMIM:617600
Metachromatic Leukodystrophy, Adult Form	Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Emotional labili...	ORPHA:309271
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Failure to thrive	OMIM:620157
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube...	ORPHA:90793
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia	OMIM:617106
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia	ORPHA:306669
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp...	OMIM:618825
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me...	ORPHA:240085
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys...	OMIM:619405
Behr Syndrome	Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Dysmetria, Adductor longus contractur...	OMIM:210000
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms	OMIM:619317
Xq28 (MECP2) duplication	Inability to walk, Depression, Gait ataxia, Dysphagia, Failure to thrive, Abnormal repetitive man...	DECIPHER:45
Ddost-Cdg	Osteopenia, Lipodystrophy, Tremor, Oromotor apraxia, Failure to thrive	ORPHA:300536
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin...	OMIM:618877
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att...	OMIM:300986
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia...	OMIM:208920
Immunodeficiency 82 With Systemic Inflammation	Osteomalacia, Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia...	OMIM:619381
Hartsfield Syndrome	Hypernatremia, Craniosynostosis	OMIM:615465
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
48,Xxyy Syndrome	Ataxia, Tremor, Obesity, Depression, Attention deficit hyperactivity disorder, Abnormal repetitiv...	ORPHA:10
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma...	ORPHA:530983
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Weight loss, Periodic paralysis	OMIM:613239
Cri-Du-Chat Syndrome	Short attention span, Hyperactivity, Small for gestational age, Aggressive behavior, Difficulty w...	OMIM:123450
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Dystonia, Aggressive behavior, Gait disturbance, Attention deficit hyperactivit...	OMIM:300352
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Diminished ability to concentrate, Attention deficit hyperactivity disorder, Impaired soc...	OMIM:615656
Cystathioninuria	Cystathioninemia, Tremor	ORPHA:212
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Depression, Attention deficit hyperactivity disorder, Cognitive impairment, ...	ORPHA:98784
Mirage Syndrome	Hyponatremia, Radial club hand, Hyperkalemia, Paraplegia, Decreased body weight	OMIM:617053
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Paralysis	ORPHA:83601
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E...	ORPHA:309263
Porphyria Variegata	Hyponatremia, Scarring, Abnormal circulating porphyrin concentration, Respiratory paralysis, Tetr...	ORPHA:79473
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Rett Syndrome	Cachexia, Gait apraxia, Truncal ataxia, Bruxism, Gait ataxia, Dystonia, Motor deterioration, Ster...	OMIM:312750
Proximal 16P11.2 Microdeletion Syndrome	Dystonia, Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Impaired social int...	ORPHA:261197
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox...	ORPHA:228402
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb...	ORPHA:247353
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ...	OMIM:617044
Whipple Disease	Hyponatremia, Ataxia, Cachexia, Abnormal pyramidal sign, Myoclonus	ORPHA:3452
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Tremor, Babinski ...	OMIM:128100
Late-Onset Isolated Acth Deficiency	Hyponatremia, Failure to thrive, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, General...	ORPHA:199299
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Abnormal repetitive mannerisms	OMIM:619092
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx...	ORPHA:765
Aceruloplasminemia	Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	ORPHA:48818
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:529665
Familial Hypoaldosteronism	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	ORPHA:427
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Infant Botulism	Hyponatremia, Cerebral palsy	ORPHA:178478
Legionnaires Disease	Hyponatremia, Ataxia, Cellulitis	ORPHA:549
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Elevated circulating creatine kinase concentration, Fasciculations	OMIM:313200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive	OMIM:613090
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Ataxia, Hypokalemia, Hypertonia, Myoclonus, Spasticity, Failure to thrive	OMIM:618426
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Hypokalemia, Hypocalcemia, Spasticity	OMIM:617913
Familial Glucocorticoid Deficiency	Hyponatremia, Hyperkalemia, Tetraplegia, Weight loss, Failure to thrive	ORPHA:361
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Decreased body weight	ORPHA:1667
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T...	OMIM:137440
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia	OMIM:608688
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Emot...	OMIM:608643
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Hyperkalemia, Small for gestational age	ORPHA:97362
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait	OMIM:616795
Adrenal Hypoplasia, Congenital	Hyponatremia, Failure to thrive	OMIM:300200
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a...	OMIM:619121
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Inability to walk, Chorea, Repetitive compulsive behavior, Bruxism, D...	OMIM:300260
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608049
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight	OMIM:618347
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Herpes Simplex Virus Encephalitis	Hyponatremia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Alg12-Cdg	Hyponatremia, Abnormal bone ossification, Abnormal adipose tissue morphology, Hypoalbuminemia, Ca...	ORPHA:79324
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Gait imbalance, Attention deficit hype...	OMIM:619312
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Overweight, Tremor, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation	ORPHA:457240
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Depress...	ORPHA:845
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hyperammonemia,...	OMIM:610505
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality, Agitation, Progressive l...	OMIM:607485
Choreoacanthocytosis	Chorea, Compulsive behaviors, Loss of ambulation, Impaired vibratory sensation, Self-mutilation o...	ORPHA:2388
Smith-Magenis Syndrome	Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Onycho...	OMIM:182290
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Inability to walk, Chorea, Bruxism, Self-injurious behavior, Dystonia, Abnor...	OMIM:618004
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-pi...	OMIM:600430
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Short attention span, Torticollis, Inability to walk, Delayed early-childhood soc...	ORPHA:300570
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Imp...	OMIM:300912
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Rabin-Pappas Syndrome	Hyponatremia, Failure to thrive in infancy, Obesity	OMIM:620155
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm...	OMIM:312080
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age	ORPHA:391673
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Tremor, Dysphagia, Self-injurious behavior, Compulsive b...	OMIM:617061
Familial Dysautonomia	Hyponatremia, Ataxia, Osteolysis	ORPHA:1764
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Positive Romberg sign, Nonprogressive cere...	ORPHA:314647
Blepharophimosis-Impaired Intellectual Development Syndrome	Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord...	OMIM:619293
Niemann-Pick Disease Type C	Axial dystonia, Dystonia, Ataxia, Progressive neurologic deterioration, Aggressive behavior, Trem...	ORPHA:646
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	ORPHA:90791
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ...	OMIM:618205
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d...	ORPHA:476126
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Bruxism, Athetosis, Irritability, Impaired social interactions, Dystoni...	OMIM:613454
Den Hoed-De Boer-Voisin Syndrome	Short attention span, Ataxia, Overweight, Tremor, Inability to walk, Obesity, Dysphagia, Agitatio...	OMIM:619229
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Dystonia	ORPHA:438216
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Acute Intermittent Porphyria	Hyponatremia, Pseudobulbar paralysis, Respiratory paralysis, Tremor	ORPHA:79276
Metachromatic Leukodystrophy, Late Infantile Form	Gait ataxia, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social behavior	ORPHA:309256
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Gait ataxia, Difficulty walking, Dystonia, Abnormal repetitive mannerisms	OMIM:617807
Rett Syndrome	Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty walking, Dystonia, Failu...	ORPHA:778
Spinocerebellar Ataxia Type 27	Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia	ORPHA:98764
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Clumsiness, Hypochloremia, Hypokalemia, Increased circul...	ORPHA:89938
Gm2-Gangliosidosis, Ab Variant	Chorea, Dementia, Exaggerated startle response, Dystonia	OMIM:272750
Smith-Magenis Syndrome	Failure to thrive in infancy, Impaired pain sensation, Obesity, Self-injurious behavior, Gait dis...	ORPHA:819
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating renin level, Hyperu...	ORPHA:95409
48,Xxxy Syndrome	Tremor, Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior...	ORPHA:96263
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ...	OMIM:616393
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma...	OMIM:618430
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol...	ORPHA:168558
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Ataxia, Parkinsonism, Tremor, Increased circulating ferritin ...	ORPHA:167
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph...	ORPHA:95699
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ...	OMIM:610883
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol...	ORPHA:289548
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit...	ORPHA:208447
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Failure to thrive, Hyperkalemia	ORPHA:90790
Addison Disease	Hyponatremia, Failure to thrive, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating ...	ORPHA:85138
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response, Failure to thrive, Ataxia	OMIM:616881
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Holoprosencephaly	Hyponatremia, Omphalocele, Failure to thrive in infancy, Congenital diaphragmatic hernia, Chorea,...	ORPHA:2162
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Niemann-Pick Disease, Type C2	Dystonia, Ataxia, Dementia, Dysphagia, Abnormal repetitive mannerisms	OMIM:607625
Sandhoff Disease	Progressive psychomotor deterioration, Exaggerated startle response, Ataxia, Impaired temperature...	OMIM:268800
Nmda Receptor Encephalitis	Short attention span, Confusion, Oculogyric crisis, Hypersexuality, Chorea, Opisthotonus, Choreoa...	ORPHA:217253
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Clonus, Osteomal...	ORPHA:534
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Compulsive behaviors, Decreased body weight, Abnormal repetitive mannerisms, Intention trem...	OMIM:619475
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal repetitive manne...	OMIM:619435
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Small for gestational age, Overweight, Pica, Irritability, Obsessive-compulsive tr...	OMIM:617796
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms	OMIM:613443
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Gait ataxia, Impaired pain sensation, Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T...	OMIM:614298
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Abnormal repetitive mannerisms	ORPHA:411986
Trichotillomania	Hair-pulling, Compulsive behaviors	OMIM:613229
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia	OMIM:168605
Cystinosis, Nephropathic	Hyponatremia, Failure to thrive in infancy, Rickets, Reduced blood urea nitrogen, Hypophosphatemi...	OMIM:219800
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive	OMIM:602522
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation	OMIM:618056
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Ataxia, Head tremor	OMIM:619428
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age	OMIM:618252
22Q11.2 Duplication Syndrome	Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:1727
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second...	ORPHA:90796
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Hypercholesterolemia, Fa...	ORPHA:275761
Shigellosis	Hyponatremia, Failure to thrive in infancy, Abnormal blood ion concentration	ORPHA:810
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Abnormal repetitive mannerisms	OMIM:618067
Adenohypophysitis	Hyponatremia	ORPHA:95512
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Flexion contr...	ORPHA:99027
White-Sutton Syndrome	Waddling gait, Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Irritability...	OMIM:616364
3P25.3 Microdeletion Syndrome	Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	ORPHA:435638
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Failure to thrive, Hyperkalemia	ORPHA:293978
4Q21 Microdeletion Syndrome	Tremor, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:238750
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:168600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Failure to thrive, Cognitive impairment, Dysphagia	OMIM:617527
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Panhypophysitis	Hyponatremia	ORPHA:95513
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Abnormal repetitive mannerisms	OMIM:619877
Fg Syndrome Type 1	Broad-based gait, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social...	ORPHA:93932
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Frequent temper tantrums, Abnormal repetitive mannerisms, Head-banging, Attention deficit hyperac...	OMIM:619103
Pituitary Apoplexy	Hyponatremia	ORPHA:95613
Sheehan Syndrome	Hyponatremia, Obesity	ORPHA:91355
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting	ORPHA:3306
Phelan-Mcdermid Syndrome	Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ...	OMIM:606232
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Overweight, Head-banging, Self-injurious behavior, Attention deficit hypera...	OMIM:619575
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Chromosome 5P13 Duplication Syndrome	Abnormal repetitive mannerisms, Self-injurious behavior, Small for gestational age, Compulsive be...	OMIM:613174
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
2Q37 Microdeletion Syndrome	Compulsive behaviors, Abnormal repetitive mannerisms, Obesity, Attention deficit hyperactivity di...	ORPHA:1001
Wiedemann-Steiner Syndrome	Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Low frustrat...	ORPHA:319182
Prader-Willi Syndrome Due To Translocation	Obesity, Head-banging, Compulsive behaviors, Attention deficit hyperactivity disorder, Impaired s...	ORPHA:177907
Coffin-Siris Syndrome 7	Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors	OMIM:618027
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemiparesis, Hyperkalemia, Hypocalcemia	ORPHA:544482
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Transketolase Deficiency	Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ...	ORPHA:488618
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil...	OMIM:300486
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking	ORPHA:320406
Cystinosis	Abnormal repetitive mannerisms, Polydipsia, Failure to thrive, Gait disturbance	ORPHA:213
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Depression	OMIM:620114
Apparent Mineralocorticoid Excess	Polydipsia, Decreased circulating aldosterone level, Abnormality of circulating cortisol level, D...	ORPHA:320
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:615530
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
Liver Disease, Severe Congenital	Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci...	OMIM:619991
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Failure to thrive, Abnormal repetitive mannerisms, Inappropriate laughter	OMIM:615802
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Abnormal repetitive mannerisms	OMIM:617751
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Attention deficit hyperactivity disorder, Decreased body weight, Abnorma...	OMIM:619005
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra...	ORPHA:79102
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ...	ORPHA:457279
Congenital Disorder Of Glycosylation, Type Iia	Aggressive behavior, Unsteady gait, Failure to thrive, Abnormal repetitive mannerisms, Self-mutil...	OMIM:212066
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior	OMIM:618914
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive	OMIM:618201
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia,...	OMIM:620330
African Trypanosomiasis	Somatic sensory dysfunction, Akinesia, Aggressive behavior, Abnormality of the endocrine system, ...	ORPHA:3385
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal repetitive mannerisms	ORPHA:500159
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Obesity, Dysmetria,...	ORPHA:96121
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Dystonia, Abnormal ...	ORPHA:522077
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Obesity, Bruxism, Dysphagia, Truncal obesity, Irri...	OMIM:615873
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity	ORPHA:293987
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ...	ORPHA:353281
Van Esch-O'Driscoll Syndrome	Impulsivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Shyness	OMIM:301030
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive	ORPHA:90794
Stiff-Person Syndrome	Depression, Exaggerated startle response, Opisthotonus	OMIM:184850
Rauch-Steindl Syndrome	Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Limb dystonia	ORPHA:457351
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pancreatic endoc...	ORPHA:805
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior	OMIM:610253
Bainbridge-Ropers Syndrome	Inability to walk, Self-injurious behavior, Recurrent hand flapping, Failure to thrive, Abnormal ...	OMIM:615485
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Abnormal repetitive mannerisms, Ataxia, Dysphagia, Dystonia	ORPHA:496641
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Gait disturbance, Attention deficit hyperactivity disorder, Failure to...	ORPHA:464311
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Short attention span, Abnormal repetitive mannerisms, Obesity, Aggressive behavior	OMIM:301066
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Hand tremor, Dysmetr...	OMIM:614756
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Exaggerated startle response, Failure to thrive, Dystonia	ORPHA:521426
Mucopolysaccharidosis Type 2	Short attention span, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, I...	ORPHA:580
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms, Ataxia	ORPHA:2479
Joubert Syndrome 6	Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Asparagine Synthetase Deficiency	Tremor, Irritability, Exaggerated startle response, Failure to thrive	OMIM:615574
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Small for gestational age, Craniosynostosis, Hyperkalemia, Camptodactyly, Joint con...	OMIM:201750
Dihydropyrimidine Dehydrogenase Deficiency	Inability to walk, Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or viol...	ORPHA:1675
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Abnor...	ORPHA:468678
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Increased serum bile acid concentration	ORPHA:731
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C...	OMIM:234200
Kleefstra Syndrome	Aggressive behavior, Obesity, Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutil...	ORPHA:261494
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc...	ORPHA:99889
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Dysphagia	OMIM:617301
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms	ORPHA:261144
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia	OMIM:610954
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Developmental And Epileptic Encephalopathy 100	Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repetitive mannerisms	OMIM:619777
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ...	ORPHA:353277
Hypotonia, Ataxia, And Delayed Development Syndrome	Pain insensitivity, Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Truncal ataxia, ...	OMIM:617330
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
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
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno...	ORPHA:363958
Developmental And Epileptic Encephalopathy 2	Inability to walk, Abnormal repetitive mannerisms	OMIM:300672
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Failure t...	OMIM:619512
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Monosomy 22Q13.3	Impaired pain sensation, Hair-pulling, Hyperactivity, Bruxism	ORPHA:48652
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Abnormal repetitive mannerisms, Opisthotonus	ORPHA:508533
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Small for gestational age, Gait disturbance, Failure to thrive, Abnormal repetitiv...	ORPHA:464306
Mend Syndrome	Hyperactivity, Failure to thrive, Abnormal social behavior, Aggressive behavior	ORPHA:401973
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Failur...	ORPHA:513456
Kinsship Syndrome	Failure to thrive, Abnormal repetitive mannerisms, Bruxism	OMIM:619297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Abnormal repetitive mannerisms, Obesity, Difficulty walking	OMIM:618653
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Abnormal repetitive mannerisms	OMIM:301040
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe failure to thrive, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:468631
Williams Syndrome	Ataxia, Failure to thrive in infancy, Tremor, Obesity, Dysmetria, Depression, Gait disturbance, G...	ORPHA:904
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response, Dysphagia	OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis...	OMIM:619522
Norrie Disease	Cachexia, Irritability, Self-injurious behavior, Attention deficit hyperactivity disorder, Failur...	ORPHA:649
Arboleda-Tham Syndrome	Abnormal repetitive mannerisms, Gait imbalance, Dysphagia, Dystonia	OMIM:616268
Primrose Syndrome	Restlessness, Ataxia, Aggressive behavior, Truncal obesity, Self-injurious behavior, Tics, Attent...	OMIM:259050
1P36 Deletion Syndrome	Polyphagia, Obesity, Self-injurious behavior, Gait disturbance, Dysphagia, Failure to thrive, Abn...	ORPHA:1606
Ogden Syndrome	Irritability, Torticollis, Abnormal repetitive mannerisms, Dysphagia	OMIM:300855
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Broad-based gait, Inability to walk, Dysphagia, Dystonia, Stereotyp...	ORPHA:438213
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Abnormal repetitive mannerisms, Hyperactivity, Small for gestational age	OMIM:309590
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms	ORPHA:508498
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Truncal obesity, Self-injurious behavior, Failure to thrive, Abnormal repetitive mannerisms	OMIM:612474
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms	OMIM:616682
Wolf-Hirschhorn Syndrome	Abnormal repetitive mannerisms, Failure to thrive, Small for gestational age	OMIM:194190
Coffin-Siris Syndrome 12	Failure to thrive, Abnormal repetitive mannerisms	OMIM:619325
Mowat-Wilson Syndrome	Broad-based gait, Ataxia, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Impaire...	ORPHA:2152
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:309000
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Abnormal repetitive mannerisms	OMIM:301044
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Impaired pain sensation, Inability to walk, Dysphagia, Bruxism, Failure to thri...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Impaired pain sensation, Inability to walk, Dysphagia, Bruxism, Failure to thri...	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^tm1Grnt	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Dlg4^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	Mice

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

X-ray

X-ray

X-ray

Anti-nuclear antibody assay

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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