Gene Summary

Name:
discs large MAGUK scaffold protein 4
Synonyms:
PSD95,  SAP90,  PSD-95,  Dlgh4,  SAP90A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Dlg4tm1e(EUCOMM)Wtsi HOM Early adult 3.58×10-08
increased circulating sodium level Dlg4tm1e(EUCOMM)Wtsi HOM Early adult 4.56×10-06
decreased body weight Dlg4tm1Grnt HOM Early adult 1.55×10-08
decreased total body fat amount Dlg4tm1e(EUCOMM)Wtsi HOM Early adult 5.30×10-05
decreased bone mineral content Dlg4tm1Grnt HOM Early adult 5.70×10-05
decreased exploration in new environment Dlg4tm1Grnt HOM Early adult 6.95×10-14
abnormal behavior Dlg4tm1Grnt HOM Early adult 6.65×10-07
decreased locomotor activity Dlg4tm1Grnt HOM Early adult 6.30×10-05
increased bone mineral content Dlg4tm1e(EUCOMM)Wtsi HOM Early adult 5.89×10-05
tremors Dlg4tm1e(EUCOMM)Wtsi HOM Early adult 7.27×10-09
decreased total body fat amount Dlg4tm1Grnt HOM Early adult 1.11×10-05
increased lean body mass Dlg4tm1e(EUCOMM)Wtsi HOM Early adult 4.46×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Anti-nuclear antibody assay

Images

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

DSS Histology

Images

8 Images

Eye Morphology

Images Slit Lamp

2 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 263 images

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.

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