Gene Summary

Name:
SH3 and multiple ankyrin repeat domains 1
Synonyms:
N/A

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
abnormal ovary morphology Shank1em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Shank1em1(IMPC)Mbp HOM Late adult 0.00
enlarged gallbladder Shank1em1(IMPC)Mbp HOM Late adult 0.00
tremors Shank1em1(IMPC)Mbp HOM   Late adult 4.66×10-06
abnormal gait Shank1em1(IMPC)Mbp HOM Late adult 5.39×10-05
abnormal liver morphology Shank1em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Shank1em1(IMPC)Mbp HOM Late adult 4.12×10-10
abnormal coat/ hair morphology Shank1em1(IMPC)Mbp HOM Middle aged adult 2.15×10-05
enlarged ovary Shank1em1(IMPC)Mbp HOM Late adult 0.00
small liver Shank1em1(IMPC)Mbp HOM Early adult 0.00
abnormal gallbladder morphology Shank1em1(IMPC)Mbp HOM Late adult 0.00

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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 Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Shank1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Shank1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Ataxia, Hepatomegaly, Splenomegaly, Gait disturbance, Dementia ORPHA:2274
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Mental deterioration, Abnormal pyramidal sign, Gait disturbance, Tremor, Spas... OMIM:614561
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Memory impairment, Difficulty walking, Po... ORPHA:85292
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Memory impairment, Falls, Abnormal neuron ... ORPHA:412066
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Myoclonus, Anxiety, Rigidity, Parkinsonism, Chorea, Memory impairme... ORPHA:401901
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Choleste... OMIM:600803
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Cognitive impairment, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticit... OMIM:615768
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Cognitive impairment, Babinski sign, Tremor, Spasticity OMIM:611105
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Irritability, Cognitive impairment, Emotional lability, Abnor... ORPHA:216873
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... ORPHA:79262
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Ataxia, Giant cell hepatitis, Jaundice OMIM:214980
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment, Intentio... ORPHA:98762
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hepatomegaly, Mental deterioration, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tre... OMIM:615924
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Mental deterioration, Myoclonus, Babinski sign, Tremor, Emotional lability, Abnormality o... OMIM:615362
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Chorea, Athetosis, Dementia OMIM:615483
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Ataxia, Giant cell hepatitis, Cholestatic liver disease, Mental deterioration, Me... ORPHA:79095
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Ataxia, Splenomegaly, Cholecystitis, Pigment gallstones, Jaundice OMIM:613470
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Alpha-Thalassemia
Cholelithiasis, Cognitive impairment, Splenomegaly, Jaundice, Hypersplenism ORPHA:846
Hepatic Adenomas, Familial
Polycystic ovaries, Hepatocellular adenoma OMIM:142330
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Tremor, Ataxia, Myoclonus OMIM:616187
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Jaundice, Splenomegaly OMIM:224100
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Hypergonadotropic hypogonadism, Mental deterioration, Dysdiadocho... OMIM:617145
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Hepatomegaly, Splenomegaly, Hepatic failure, Frequent falls, Tremor, Gait ataxia, Hepatic... OMIM:616719
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Cognitive imp... OMIM:617284
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Chorea, Aggressive behavior, Unsteady gait, Dementia OMIM:603218
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Cyanide-Induced Parkinsonism-Dystonia
Apathy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short steppe... ORPHA:306692
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Ataxia, Hemobilia, Tip-toe gait, Decerebrate rigidity, Progressi... ORPHA:512
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia, Dementia OMIM:615889
Crigler-Najjar Syndrome Type 1
Memory impairment, Biliary tract abnormality, Tremor, Prolonged neonatal jaundice, Abnormality of... ORPHA:79234
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Hypogonadism OMIM:312910
Spinocerebellar Ataxia Type 28
Limb ataxia, Cognitive impairment, Babinski sign, Rigidity, Parkinsonism, Head tremor, Memory imp... ORPHA:101109
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking OMIM:619191
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Memory impairment, Sp... ORPHA:251282
Dystonia 12
Torticollis, Bradykinesia, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional lability, Dyst... OMIM:128235
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Cognitive impairme... ORPHA:314632
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Mental deterioration, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Ri... OMIM:213600
Huntington Disease-Like 2
Apathy, Bradykinesia, Depression, Anxiety, Chorea, Irritability, Dementia OMIM:606438
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:605479
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Myoclonus, Anxiety, Tremor, Writer's cramp OMIM:159900
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor OMIM:141500
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Anxi... OMIM:604326
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... ORPHA:363710
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Resting tremor, Parkinsonism, Tremor, S... ORPHA:3077
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Apathy, Bradykinesia, Mental det... ORPHA:240085
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Hepatitis, Irritability ORPHA:848
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Glutathionuria
Tremor OMIM:231950
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Cognitive impairment, Pill-rolling tremor, Limb hypertonia, Abn... OMIM:615528
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis ORPHA:79278
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Mental deterioration, Babinski sign, Parkinsonism, Anxiety, Chorea, Tremor, Ga... OMIM:618093
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Rigidity, Tremor, Ga... ORPHA:98763
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Progressive neurologic deterioration, Tremor, Choreoathetosis, Dystonia, I... OMIM:261630
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Truncal ataxia, Cogw... OMIM:607346
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Memory impairment, Gait disturbance, Tremor, ... ORPHA:98764
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... OMIM:270500
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking OMIM:615048
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Gabriele-De Vries Syndrome
Waddling gait, Tremor, Cryptorchidism, Dystonia OMIM:617557
Functioning Gonadotropic Adenoma
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... ORPHA:91348
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Memory impairment, Tremor, Difficulty walking OMIM:614018
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Erythrocytosis, Familial, 8
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Mental deteriora... ORPHA:99750
Gonadoblastoma
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... ORPHA:206484
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Cervix cancer, Abnormality of the gallbladder, Biliary tract neoplas... ORPHA:2869
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Early-Onset Schizophrenia
Decreased male libido, Impairment in personality functioning, Cognitive impairment, Abnormal emot... ORPHA:96369
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign, Dementia OMIM:301840
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Mental deterioration, Abnormal pyramidal sign, Babinski sig... OMIM:617225
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Anxiety, Parkinsonism, Craniofacial dystonia, Gait ata... ORPHA:71517
Cimdag Syndrome
Cholelithiasis, Ataxia, Hepatomegaly, Microvesicular hepatic steatosis, Chorea, Spasticity, Hypog... OMIM:619273
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly OMIM:235700
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Sialuria
Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Hyperkinetic movements, Memory impairment, Elev... ORPHA:3166
Cerebrotendinous Xanthomatosis
Cholelithiasis, Ataxia, Pseudobulbar paralysis, Ankle clonus, Abnormal pyramidal sign, Babinski s... OMIM:213700
Congenital Respiratory-Biliary Fistula
Abnormality of the liver ORPHA:2040
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Cognitive impairment, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination OMIM:614947
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Ataxia-Telangiectasia
Ataxia, Cognitive impairment, Gait disturbance, Tremor, Elevated hepatic transaminase, Spasticity... ORPHA:100
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Micropenis, Babinski sign, Shuffling gait, Progressive spastic paraplegia, Spasti... OMIM:300534
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated ... ORPHA:53035
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Anxiety, Rigidity, Parkinsonism, Dystonia, Dementia OMIM:605909
Dystonia 16
Bradykinesia, Laryngeal dystonia, Retrocollis, Cognitive impairment, Abnormal pyramidal sign, Par... OMIM:612067
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination OMIM:213200
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Tremor, Choreoathetosis, Dystonia, Irritability OMIM:612126
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... OMIM:300423
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Progressive neurologic deterioration, T... OMIM:261640
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance OMIM:210000
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Progressive psychomotor deterioration, Intention tremor, Decerebrate rigidity, Babins... ORPHA:309271
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Cognitive impairment, Myoclonus, Myo... ORPHA:79263
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Mental deterioration, Babinski sign, Chorea, Tremor, Sp... OMIM:164500
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Inability to walk, Mental deterioration, Myoclonus, Limb myoclonus, Frequent falls, T... ORPHA:2590
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Poor fine motor coordination, Spastic paraparesis, Bradyk... OMIM:613280
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency ORPHA:309108
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Enlarged polycy... ORPHA:64739
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Cholecystitis, Tremor, Spasticity, Unsteady gait, Prolonged neonata... OMIM:615512
Spherocytosis, Type 1
Cholelithiasis, Jaundice, Splenomegaly OMIM:182900
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Hypergonadotropic hypogonadism, Intention tremor, Hemiparesis, Tremor, Spasticity, Abnorm... OMIM:614307
Dopa-Responsive Dystonia
Leg dystonia, Agoraphobia, Inability to walk, Irritability, Poor coordination, Abnormality of ext... ORPHA:255
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Cognitive impairment, Dysdiadochokinesis, B... OMIM:615157
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Pancreatitis, Hepatic steatosis, Hepatomegaly ORPHA:79084
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Enlarged ovaries, Polycystic ovaries, Enlarged polycystic ova... ORPHA:2298
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Jaundice OMIM:266200
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice OMIM:232800
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Tremor, Aggressive behavior, Spastic tetraparesis OMIM:619470
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... OMIM:300894
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Anxiety, Dystonia OMIM:619651
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hepatomegaly, Progressive psychomotor deterioration, Cognitive impairment, Cirrhosis, Myo... ORPHA:363400
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Myopathy, Spheroid Body
Broad-based gait, Tremor, Waddling gait OMIM:182920
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Panic attack, Stereotyp... ORPHA:3095
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... OMIM:617013
Urocanase Deficiency
Tremor, Ataxia, Aggressive behavior OMIM:276880
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Caribbean Parkinsonism
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... ORPHA:97355
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Elevated hepatic transami... ORPHA:567983
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Tongue fasciculations ORPHA:276435
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walking, Tongue fasciculations, Dem... OMIM:159950
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Ovarian Fibroma
Mesenteric cyst, Peritonitis, Gonadal calcification, Ovarian fibroma, Ascites, Abnormality of the... ORPHA:314473
Mirizzi Syndrome
Cholelithiasis, Pancreatitis, Jaundice, Elevated hepatic transaminase, Cholesterol gallstones, Ga... ORPHA:521219
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Tremor, Gait ataxia, Steppage gait OMIM:618387
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
Spinocerebellar Ataxia 42
Ataxia, Cognitive impairment, Babinski sign, Abnormal pyramidal sign, Tremor, Unsteady gait, Spas... OMIM:616795
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Increased circulating gonadotropin level, Enlarged polycystic ovaries, ... ORPHA:785
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Mental deterioration, Babinski sign, Tremor, Spasticity, Steppage gait OMIM:609260
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Aggressive behavior, Oculomotor apraxia, Dystonia OMIM:612716
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Cognitive impairment, Rigidity, Tremor, Gait ataxia, Abn... ORPHA:98773
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatitis, Jaundice OMIM:194380
Rabson-Mendenhall Syndrome
Precocious puberty, Long penis, Enlarged ovaries, Clitoral hypertrophy, Increased pineal volume ORPHA:769
Parkinson Disease 14, Autosomal Recessive
Loss of ambulation, Axial dystonia, Clumsiness, Bradykinesia, Hand tremor, Resting tremor, Mental... OMIM:612953
Galactosemia
Gait imbalance, Ataxia, Action tremor, Hepatomegaly, Postural tremor, Hepatic failure, Cirrhosis,... ORPHA:352
Martinez-Frias Syndrome
Annular pancreas, Hypospadias, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic... OMIM:601346
4H Leukodystrophy
Ataxia, Decreased response to growth hormone stimulation test, Dysmetria, Mental deterioration, H... ORPHA:289494
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst ORPHA:397685
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Anxiety, Parkinsonism, Hyperkinetic movements, Chorea, Tremor,... OMIM:619738
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis... ORPHA:30391
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Progressive Supranuclear Palsy
Impulsivity, Bradykinesia, Cognitive impairment, Depression, Memory impairment, Falls, Unsteady g... ORPHA:683
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Beta-Thalassemia Intermedia
Cholelithiasis, Hypoparathyroidism, Decreased liver function, Hepatomegaly, Splenomegaly, Cirrhos... ORPHA:231222
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Cognitive impairment, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Ab... ORPHA:352649
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Par... OMIM:619725
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Progressive cerebellar ataxia, Apathy, Limb ataxia, Cognitive impairment, Inten... OMIM:607454
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Neuronal Intranuclear Inclusion Disease
Ataxia, Cognitive impairment, Rigidity, Gait disturbance, Tremor, Dementia OMIM:603472
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Ambiguous geni... ORPHA:90796
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb a... ORPHA:101
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Anxiety, Chorea, Choreoathetosis, Involuntary movemen... OMIM:606703
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Progressive neurologic deterioration, Tremor, ... OMIM:233910
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Truncal atax... OMIM:208920
Opitz Gbbb Syndrome
Bicornuate uterus, Bifid scrotum, Hypospadias, Enlarged ovaries, Shawl scrotum, Cryptorchidism ORPHA:2745
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... OMIM:618049
Cln5 Disease
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Mental deteriora... ORPHA:228360
Classic Galactosemia
Gait imbalance, Ataxia, Action tremor, Hepatomegaly, Clumsiness, Postural tremor, Hepatic failure... ORPHA:79239
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Memory impairment, ... OMIM:137440
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... OMIM:617435
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Dysmetria, Cognitive impairment, Progressive psychomotor deterioration, Tremor, Gait atax... ORPHA:1170
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... OMIM:300623
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking ORPHA:101077
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Aggressive behavior, Spasticity OMIM:300983
Hereditary Spherocytosis
Cholelithiasis, Ataxia, Hepatomegaly, Splenomegaly, Jaundice ORPHA:822
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Aggressive behavior, Dystonia,... ORPHA:329284
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Parkinsonism with favorable response to dopaminergic medication, Progressive extr... ORPHA:240071
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Progressive neurologic deterioration, Gait disturbance, Tremor, Cryptorchidism ORPHA:1192
Young-Onset Parkinson Disease
Gait imbalance, Apathy, Female sexual dysfunction, Impulsivity, Bradykinesia, Cognitive impairmen... ORPHA:2828
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Cognitive impairment OMIM:616668
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the liver, Abnormality of the ovary, Abnormality of the... ORPHA:543
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Axial dystonia, Myoclonus, Panic attack, Head tremor, Craniofacial dystonia, Writer'... ORPHA:420492
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Mental deterioration, Dysdiadochokinesis, ... ORPHA:96
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Cognitive impairment, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... ORPHA:280219
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Decreased response to growth hormone stimulation test, Micropenis, Self-mutilat... ORPHA:457240
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Loss of ambulation, Spastic parap... ORPHA:206443
Aromatase Deficiency
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... ORPHA:91
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... ORPHA:261529
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism ORPHA:1643
Pelizaeus-Merzbacher Disease
Broad-based gait, Ataxia, Inability to walk, Apathy, Cognitive impairment, Intention tremor, Ment... OMIM:312080
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Meckel Syndrome, Type 6
Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Abnormal internal genitalia, Bile duct proli... OMIM:612284
Metachromatic Leukodystrophy
Ataxia, Gallbladder dysfunction, Mental deterioration, Babinski sign, Chorea, Cholecystitis, Gait... OMIM:250100
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... OMIM:619911
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia ORPHA:324588
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Cerebrotendinous Xanthomatosis
Cholelithiasis, Paraparesis, Ataxia, Spastic paraparesis, Resting tremor, Progressive psychomotor... ORPHA:909
Aceruloplasminemia
Torticollis, Ataxia, Abnormal pancreas morphology, Blepharospasm, Akinesia, Limb ataxia, Apathy, ... ORPHA:48818
Leprechaunism
Hepatomegaly, Long penis, Enlarged kidney, Enlarged ovaries, Labial hypertrophy, Clitoral hypertr... ORPHA:508
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... OMIM:614831
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... ORPHA:137898
Neuroferritinopathy
Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Cognitive impairment, Emotional labili... ORPHA:157846
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated hepatic transaminase, Abnormality of the male genitalia, Hepatic failure OMIM:614886
Primary Sclerosing Cholangitis
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Hepatomegaly, Pancreatitis... ORPHA:171
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis ORPHA:391417
Peroxisome Biogenesis Disorder 5B
Decreased liver function, Ataxia, Dysmetria, Tremor, Unsteady gait, Oculomotor apraxia OMIM:614867
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... OMIM:618877
Ppoma
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97278
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Sneddon Syndrome
Mental deterioration, Hemiparesis, Chorea, Memory impairment, Tremor, Dementia ORPHA:820
Ovarian Fibrothecoma
Abnormal endometrium morphology, Peritonitis, Gonadal calcification, Ovarian fibroma, Ascites, Ab... ORPHA:314478
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Parkinsonism, Tremor, Dementia OMIM:260540
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Myocl... OMIM:183090
Tonne-Kalscheuer Syndrome
Broad-based gait, Self-injurious behavior, Micropenis, Hypospadias, Anxiety, Tremor, Spasticity, ... OMIM:300978
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Frequent falls, Tremor, Difficu... OMIM:302800
Perry Syndrome
Akinesia, Frontotemporal dementia, Bradykinesia, Apathy, Anxiety, Rigidity, Parkinsonism, Tremor,... OMIM:168605
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Loss of ambulation, Dysmetria, Hypogonadotropic hypogonadism, Babinski sign, Tremor, Spas... OMIM:607694
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... ORPHA:79302
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia ORPHA:330050
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Jaundice, Cardiomegaly OMIM:603903
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia OMIM:617810
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, Self-injurious behavior, Tremor, Spasticity OMIM:618718
8P Inverted Duplication/Deletion Syndrome
Hypertonia, Precocious puberty, Micropenis, Aplasia/Hypoplasia of the gallbladder, Progressive sp... ORPHA:96092
Saccharopinuria
Cognitive impairment, Mental deterioration, Spastic diplegia, Tremor, Gait ataxia ORPHA:3124
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Inability to walk, Mental deterioration, Ankle clonus, Babinski sign, Abn... ORPHA:52368
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... OMIM:607483
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Blepharospasm, Cognitive impairment, Myoclonus, Tremor, Dementia OMIM:607876
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Tremor ORPHA:1368
Parkinson Disease 20, Early-Onset
Bradykinesia, Mental deterioration, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Shuffling gai... OMIM:615530
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia ORPHA:139485
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking ORPHA:477673
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Oculomotor apraxia, Cryptorchidism, Eyel... OMIM:618060
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Inability to walk, Male urethral meatus stenosis, Hypospadias, Difficulty walking... ORPHA:464738
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Apathy, Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tr... ORPHA:227510
Cowden Syndrome
Ataxia, Cognitive impairment, Abnormal penis morphology, Endometrial carcinoma, Adenoma sebaceum,... ORPHA:201
Intellectual Developmental Disorder, X-Linked 12
Anxiety, Hyperkinetic movements, Gait disturbance, Tremor, Spasticity, Cryptorchidism, Microphallus OMIM:300957
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Ataxia, Loss of ambulation, Mental deterioration, Babinski sign, Parkinso... OMIM:614298
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Tremor, Athetosis OMIM:617106
Glycogen Storage Disease Xii
Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Elevated circulating alanine aminotran... OMIM:611881
Preeclampsia
Polycystic ovaries, Elevated hepatic transaminase, Abnormality of the hepatic vasculature ORPHA:275555
Distal Trisomy 5Q
Aplasia/Hypoplasia of the gallbladder, Hypospadias, Cryptorchidism ORPHA:96097
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... OMIM:619662
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia ORPHA:306669
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... ORPHA:247234
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Fasciculations OMIM:313200
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Grfoma
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97261
Bangstad Syndrome
Polycystic ovaries, Ataxia, Abnormality of the parathyroid gland, Abnormal testis morphology ORPHA:1227
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating follicle stimulating hormone level, Abnormal external genitalia, Micropenis,... ORPHA:95699
Perry Syndrome
Apathy, Parkinsonism, Tremor, Abnormality of extrapyramidal motor function, Dementia ORPHA:178509
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis, Male hypogonadism, Female hypogonad... OMIM:240300
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Ataxia, Gait disturbance ORPHA:99014
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Cognitive impairment, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral palsy,... ORPHA:70594
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Jaundice, Splenomegaly ORPHA:288
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Peritoneal... ORPHA:400
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Cryptorchidism, Decreased testicular size ORPHA:3085
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait OMIM:619405
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Mental deterioration, Myoclonus, Rigidity, Parkinsonism, Gait distu... OMIM:168601
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Motor stereotypy, Precocious puberty, Hepatomegaly, Hepatosplenomegaly, Cholecyst... OMIM:301066
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait, Dementia OMIM:311510
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Mental deterioration, Abnormal pyramidal sign, Rigidity, Parkinsonism, ... OMIM:616840
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Bradykinesia, Poor fine motor coordination, Cognitive impairment, Anxiety, Tremor, Incoor... ORPHA:36387
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Ataxia, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepat... OMIM:203700
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity, Myoclonus OMIM:616494
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Ovarian cyst, Mental deterioration, Anxiety, Emotional lability OMIM:610475
Myopathy With Extrapyramidal Signs
Ataxia, Clumsiness, Hepatomegaly, Splenomegaly, Chorea, Frequent falls, Tremor, Difficulty walkin... OMIM:615673
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Hypospadias, Gait disturbance, Tremor ORPHA:544254
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Micropenis, Emotional lability, Hypospadias, Tremor, Gait ataxia, Aggressive behavior, Decreased ... OMIM:300354
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Spasticity, ... OMIM:616586
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Anxiety, Slowed slurred speech, Macroorchidism ORPHA:284180
Sialidosis Type 2
Ataxia, Hepatomegaly, Splenomegaly, Tremor, Ascites ORPHA:87876
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... OMIM:228300
Microgastria-Limb Reduction Defects Association
Bicornuate uterus, Splenogonadal fusion, Biliary tract abnormality, Absent gallbladder, Cryptorch... OMIM:156810
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,... OMIM:128100
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Mental deterioration, Limb hypertonia, Myoclonus, Rigidity, Tremor, Difficulty walking, I... ORPHA:442835
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Hepatomegaly, Splenomegaly, Emotional lability, Tremor, Decreased testicular size, Hypogo... OMIM:201100
Niemann-Pick Disease Type C
Ataxia, Cataplexy, Hepatomegaly, Hepatic failure, Mental deterioration, Chorea, Tremor, Limb dyst... ORPHA:646
Joubert Syndrome 6
Motor stereotypy, Ataxia, Hepatic fibrosis, Bile duct proliferation, Oculomotor apraxia OMIM:610688
Classic Phenylketonuria
Hemiplegia, Hypertonia, Self-injurious behavior, Mental deterioration, Memory impairment, Tremor,... ORPHA:79254
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Inability to walk, Decreased r... ORPHA:273
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the urethra, Abnormality of the ovary ORPHA:2795
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Cognitive impairment, Gait ... OMIM:615300
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Congenital Fibrinogen Deficiency
Opisthotonus, Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagi... ORPHA:335
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Hypoplastic nipples OMIM:618268
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor, Dystonia, Short stepped shuffling g... OMIM:168600
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Intermittent jaundice, Splenomegaly ORPHA:3202
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic steatosis, Hepatomegaly ORPHA:79085
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia OMIM:619092
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Dysmetria, Intention tremor, Hypogonadotropic hypogonadism, Dysdiadochokinesis, Abnormal ... OMIM:614381
Donohue Syndrome
Precocious puberty, Ovarian cyst, Cholestasis, Long penis, Clitoral hypertrophy, Hepatic fibrosis... OMIM:246200
Satoyoshi Syndrome
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... ORPHA:3130
Distal Monosomy 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Riboflavin Transporter Deficiency
Ataxia, Myoclonus, Tremor, Aggressive behavior, Hypogonadism ORPHA:97229
Congenital Disorder Of Glycosylation, Type Ij
Hypertonia, Elevated hepatic transaminase, Tremor, Aggressive behavior, Cryptorchidism, Jaundice OMIM:608093
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Happy demeanor, Inability to walk, Lower limb hypertonia, Cardi... ORPHA:97297
Adult-Onset Distal Myopathy Due To Vcp Mutation
Anxiety, Parkinsonism, Progressive neurologic deterioration, Frequent falls, Tremor, Difficulty w... ORPHA:329478
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hypertonia, Broad-based gait, Limb ataxia, Splenomegaly, Oculomotor apraxia, Hepa... ORPHA:2072
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Rigidity, Progressive neurologic deterioration, Tremor, Spasticity, Dementia OMIM:176500
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Tremor, Gait ataxia, S... OMIM:616505
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Pancreatitis, Hepatic steatosis, Hepatomegaly ORPHA:435651
Mohr-Tranebjaerg Syndrome
Mental deterioration, Tremor, Dystonia, Spasticity OMIM:304700
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Portal hypertension ORPHA:774
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration ORPHA:276608
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Tremor, Difficulty walking, Gait ataxia, Spasticity, Oculomotor apraxia ORPHA:529665
Myopathy, Mitochondrial, And Ataxia
Ataxia, Inability to walk, Limb ataxia, Dysmetria, Dysdiadochokinesis, Anxiety, Truncal ataxia, I... OMIM:617675
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hepatomegaly, Cirrhosis, Clitoral hypertrophy, Polycystic ovaries,... ORPHA:528
Luscan-Lumish Syndrome
Polycystic ovaries, Anxiety, Slurred speech, Aggressive behavior OMIM:616831
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hepatocellular adenoma, Cholesta... ORPHA:370
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination OMIM:608768
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Hemiparesis, Tremor, Paraplegia, Spasticity, Cardiomegaly, Dementia OMIM:105210
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Uterine neoplasm, Ovarian cyst, Biliary tract abnormality, Precocious p... OMIM:175200
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Ataxia, Action tremor, Dysmetria, Cognitive impairment, Intention tremor, Dysdiadocho... ORPHA:99027
Pyruvate Dehydrogenase Deficiency
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Gait disturbance, Tremor, Choreoathetosis, Spast... ORPHA:765
Typhoid
Hypertonia, Ataxia, Hepatomegaly, Splenomegaly, Tremor ORPHA:99745
Meckel Syndrome, Type 7
Hypertonia, Right ventricular hypertrophy, Hepatosplenomegaly, Cholestasis, Portal hypertension, ... OMIM:267010
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Decreased thyroid-stimulating hormone level, Goiter, Tremor OMIM:613239
Bardet-Biedl Syndrome 1
Gait imbalance, Ataxia, Micropenis, Poor coordination, Left ventricular hypertrophy, Biliary trac... OMIM:209900
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Cirrhosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Supranuclear Palsy, Progressive, 1
Gait imbalance, Frontolimbic dementia, Akinesia, Axial dystonia, Bradykinesia, Apathy, Retrocolli... OMIM:601104
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Blepharospasm, Bradykinesia, Mental deterioration, Babinski sign, Abnormal pyra... OMIM:234200
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Decreased liver function, Ataxia, Neoplasm of the liver, Hepatomegaly, Splenomega... ORPHA:77293
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Action tremor, Hepatomegaly, Poor fine motor coordination, Spastic paraparesis, Splen... ORPHA:309854
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries, Cirrhosis, Hepatic steatosis OMIM:604367
Tay-Sachs Disease
Precocious puberty, Clumsiness, Laryngeal dystonia, Dysmetria, Exaggerated startle response, Poor... ORPHA:845
Hereditary Late-Onset Parkinson Disease
Parkinsonism with favorable response to dopaminergic medication, Akinesia, Bradykinesia, Apathy, ... ORPHA:411602
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic steatosis, Abnormal labia majora morphology, Hepatomegaly ORPHA:435660
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries, Elevated hepatic transaminase OMIM:268020
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance ORPHA:83629
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Ataxia, Inability to walk, Hepatomegaly, Hyperkinetic movements, Chorea, Athetosis, Tremor, Speec... OMIM:615356
Lathosterolosis
Ambiguous genitalia, male, Hepatosplenomegaly, Elevated hepatic transaminase, Intrahepatic choles... OMIM:607330
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Cognitive impairment, Abnormal penis morphology, Testicular neoplasm, Polycys... ORPHA:457059
Pentalogy Of Cantrell
Hypospadias, Absent gallbladder, Polysplenia ORPHA:1335
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... OMIM:607060
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis ORPHA:2348
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Tremor, Spastic tetraplegia, Aggressiv... OMIM:617710
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis ORPHA:79083
Cowden Syndrome 6
Hydrocele testis, Intention tremor, Ovarian cyst, Varicocele, Goiter OMIM:615109
Primary Lipodystrophy
Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis ORPHA:90970
Cowden Syndrome 5
Hydrocele testis, Goiter, Intention tremor, Ovarian cyst OMIM:615108
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular adenoma, Cholestasis, Elevated hepatic tran... ORPHA:264580
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... ORPHA:90793
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Kallmann Syndrome
Ataxia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Anterior hypopituitarism,... ORPHA:478
Autosomal Dominant Spastic Paraplegia Type 9A
Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Falls, Memory impairment, Tremor, Low... ORPHA:447753
Choreoacanthocytosis
Hepatomegaly, Laryngeal dystonia, Mental deterioration, Elevated circulating aspartate aminotrans... ORPHA:2388
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Intention tremor, Varicocele, Goiter, Ovarian carcinoma OMIM:158350
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... ORPHA:90797
Porphyria, Congenital Erythropoietic
Cholelithiasis, Splenomegaly OMIM:263700
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis OMIM:617925
Trisomy 8P
Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism, Micropenis ORPHA:264450
Craniofacioskeletal Syndrome
Hypospadias, Absent gallbladder, Cryptorchidism OMIM:300712
Joubert Syndrome With Hepatic Defect
Ataxia, Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosi... ORPHA:1454
Migraine, Familial Hemiplegic, 2
Hemiplegia, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Apraxia, Episodic ataxia OMIM:602481
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, Happy demeanor, Recurrent hand flapping, Myoclonus, Ton... ORPHA:98794
Mccune-Albright Syndrome
Precocious puberty, Elevated circulating growth hormone concentration, Pancreatitis, Ovarian cyst... ORPHA:562
Intrahepatic Cholestasis Of Pregnancy
Abnormality of the pancreas, Cholecystitis, Tremor, Elevated hepatic transaminase, Abnormal pinea... ORPHA:69665
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Hepatomegaly, Micropenis, Pancreatic hypoplasia, Biliary hyperplasia, Cryptorchidism ORPHA:83617
Serotonin Syndrome
Hypertonia, Hepatic failure, Mental deterioration, Myoclonus, Anxiety, Rigidity, Tremor, Clonus, ... ORPHA:43116
Proteus Syndrome
Ovarian neoplasm, Splenomegaly, Testicular neoplasm, Long penis, Thymus hyperplasia, Enlarged pol... ORPHA:744
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Cholestasis, Elevated hepatic trans... ORPHA:562639
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Hypospadias, Male pseudohermaphroditism, Abnormality of the gallbladder... ORPHA:2075
22Q11.2 Deletion Syndrome
Cholelithiasis, Hypoparathyroidism, Splenomegaly, Hypospadias, Hypoplasia of the thymus, Anxiety,... ORPHA:567
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hepatocellular adenoma, Elevated... ORPHA:79240
Triploidy
Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Abnormality of the g... ORPHA:3376
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Absent gallbladder, Cryptorchidism, Micropenis ORPHA:163979
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Fronto... ORPHA:199351
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Cognitive impairment, Rigidity, Chorea, Athetosis, Tremor, Limb dystonia, Poor motor coor... ORPHA:25
Williams Syndrome
Cholelithiasis, Gait imbalance, Ataxia, Precocious puberty, Hypoplasia of penis, Dysmetria, Hypog... ORPHA:904
Fucosidosis
Hepatomegaly, Abnormal pyramidal sign, Abnormality of the gallbladder, Spasticity, Spastic tetrap... ORPHA:349
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Polyminimyoclonus, Tremor, Vocal cord paresis, Fasciculations, Impaired tandem gait OMIM:619574
Caroli Syndrome