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
enlarged ovary Shank1em1(IMPC)Mbp HOM Late adult 0.00
abnormal gait Shank1em1(IMPC)Mbp HOM Late adult 5.34×10-05
small liver Shank1em1(IMPC)Mbp HOM Early adult 0.00
abnormal ovary morphology Shank1em1(IMPC)Mbp HOM Late adult 0.00
increased grip strength Shank1em1(IMPC)Mbp HOM Middle aged adult 4.89×10-10
decreased exploration in new environment Shank1em1(IMPC)Mbp HOM Late adult 3.95×10-10
tremors Shank1em1(IMPC)Mbp HOM   Late adult 4.63×10-06
cataract Shank1em1(IMPC)Mbp HOM   Early adult 1.21×10-05
abnormal coat/ hair morphology Shank1em1(IMPC)Mbp HOM Middle aged adult 2.15×10-05
decreased startle reflex Shank1em1(IMPC)Mbp HOM   Early adult 7.38×10-05
enlarged gallbladder Shank1em1(IMPC)Mbp HOM Late adult 0.00
decreased locomotor activity Shank1em1(IMPC)Mbp HOM   Early adult 1.92×10-06
abnormal gallbladder morphology Shank1em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Shank1em1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Shank1em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Shank1em1(IMPC)Mbp HOM Early adult 8.70×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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

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
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Memory impairment, Dementia, Abnormal pyramida... ORPHA:85292
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Depres... OMIM:619491
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Chorea, Tremor, Upper motor neuron dysfunction, Cognitive impairme... ORPHA:401901
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Cognitive impairment, Ataxia OMIM:611105
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cognitive impairment, Unsteady ga... OMIM:615768
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... OMIM:616053
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Adult Neuronal Ceroid Lipofuscinosis
Dementia, Abnormality of extrapyramidal motor function, Mental deterioration, Spasticity, Tremor,... ORPHA:79262
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Tremor, Optic disc pallor OMIM:165300
Atypical Pantothenate Kinase-Associated Neurodegeneration
Irritability, Oromandibular dystonia, Depression, Chorea, Spasticity, Tremor, Upper motor neuron ... ORPHA:216873
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetrapare... OMIM:615924
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia, Mental deterioration ORPHA:309169
Spinocerebellar Ataxia Type 12
Bradykinesia, Dementia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance... ORPHA:98762
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Dementia, Abnormality of extrapyramidal motor function, Depression, Confusion, Tre... OMIM:615362
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Dystonia 12
Bradykinesia, Torticollis, Depression, Emotional lability, Tremor, Dystonia, Unsteady gait, Parki... OMIM:128235
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Memory impairment, Depression, Spasticity, Limb dystonia, Gait ataxia... ORPHA:101109
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Ataxia, Splenomegaly, Pigment gallstones, Cholecystitis OMIM:613470
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Depression, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:314632
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Protoporphyria, Erythropoietic, X-Linked
Elevated circulating hepatic transaminase concentration, Cholelithiasis OMIM:300752
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Dementia, Oromotor apraxia, Progressive extrapyramidal musc... ORPHA:454887
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hyperbiliverdinemia
Decreased liver function, Cholestasis, Cholelithiasis OMIM:614156
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Memory impairment, Depression, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait ... OMIM:213600
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Mental deterioration, Dysdiadochokinesis, Tremor, Gait disturban... OMIM:617145
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Splenomegaly, Cholelithiasis OMIM:224100
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio... ORPHA:90301
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Depression, Dysdiadochokinesis, Head tremor, Actio... OMIM:604326
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, C... ORPHA:66624
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Depression, Tremor, Myoclonus OMIM:159900
Metachromatic Leukodystrophy
Tip-toe gait, Emotional lability, Incoordination, Hemobilia, Decerebrate rigidity, Tremor, Progre... ORPHA:512
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Crigler-Najjar Syndrome Type 1
Memory impairment, Tremor, Biliary tract abnormality, Prolonged neonatal jaundice, Abnormality of... ORPHA:79234
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... ORPHA:251282
Migraine, Familial Hemiplegic, 1
Confusion, Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Mental deterioration, Myoclonus OMIM:616187
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor, Hypogonadism OMIM:312910
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly OMIM:605479
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Mental deterioration, Spasticity, Tremor, Frequent fa... OMIM:611302
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia ORPHA:217012
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Depression, Parkinsonism with favorable response to dopaminergic me... OMIM:616710
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Spinocerebellar Ataxia 48
Babinski sign, Irritability, Depression, Chorea, Mental deterioration, Tremor, Gait ataxia, Dysto... OMIM:618093
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Cognitive impairm... OMIM:615528
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Gait disturbance... ORPHA:363710
Cataract 42
Cataract, Developmental cataract OMIM:115900
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Gait disturbance, Abnormality of the ovary, Hypogonadism ORPHA:1875
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Memory impairment, Depression, Falls, Tremor, Parkinsonism with favorable response ... ORPHA:240085
Beta-Thalassemia
Irritability, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis, Hypogonadotropic hypogonadism ORPHA:848
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Hepatomegaly, Spasticity, Tremor, Frequent falls, Gait ataxia, Hepatic bridging fibr... OMIM:616719
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Irritability, Abnormal fear-induced behavior, Lower limb spasticity, Broad-based gait, Resting tr... ORPHA:3077
Hyperphenylalaninemia, Bh4-Deficient, C
Irritability, Hypertonia, Tremor, Dystonia, Progressive neurologic deterioration, Myoclonus, Chor... OMIM:261630
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Huntington Disease-Like 2
Bradykinesia, Irritability, Memory impairment, Subcortical dementia, Chorea, Depression, Action t... OMIM:606438
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Emotional lability, Depression, Craniofacial dystonia,... ORPHA:71517
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Cognitive impairment, Rigidity, ... ORPHA:98763
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Difficulty walking OMIM:615048
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Depression, Rigidity, Dystonia, Parkinsonism, Dementia OMIM:605909
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Memory impairment, Depression, Truncal ataxia, Tremor,... ORPHA:98764
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Aicardi-Goutieres Syndrome 6
Irritability, Hepatomegaly, Tremor, Rigidity, Dystonia, Loss of ambulation, Splenomegaly OMIM:615010
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis ORPHA:79278
Sialuria
Hyperkinetic movements, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ch... ORPHA:3166
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Memory impairment, Tremor, Ataxia, Loss of ambulation, Myoclonus OMIM:614018
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Difficulty walking OMIM:158580
Alpha-Methylacyl-Coa Racemase Deficiency
Depression, Spasticity, Tremor, Intention tremor, Hypergonadotropic hypogonadism, Hemiparesis, At... OMIM:614307
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Tremor, Waddling gait, Inability to walk OMIM:616269
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Peutz-Jeghers Syndrome
Abnormality of the gallbladder, Enlarged polycystic ovaries, Biliary tract neoplasm, Pancreatic a... ORPHA:2869
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Chorea, Spasticity, Dystonia, Ata... OMIM:619273
Glut1 Deficiency Syndrome 2
Irritability, Tremor, Dystonia, Ataxia, Splenomegaly, Choreoathetosis OMIM:612126
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Cognitive impairment, Gait distu... OMIM:612067
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly OMIM:614876
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Memory impairment, Progressive extrapyramidal muscular rigid... ORPHA:240103
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Childhood Disintegrative Disorder
Abnormal emotion, Motor deterioration, Progressive language deterioration, Reduced social recipro... ORPHA:168782
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Gait disturbance, Action tremor, Rigidit... OMIM:300423
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Metachromatic Leukodystrophy, Adult Form
Babinski sign, Difficulty walking, Progressive psychomotor deterioration, Dementia, Memory impair... ORPHA:309271
Cerebrotendinous Xanthomatosis
Babinski sign, Difficulty walking, Cholelithiasis, Dementia, Spasticity, Ataxia, Ankle clonus, Ab... OMIM:213700
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Short attention span, Ataxia, Myoclonus, Impaired tandem gait, Dys... OMIM:619028
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Spasticity, Tremor, Abnormal testis morp... ORPHA:100
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Unsteady gait, Cataract OMIM:620312
Trichomegaly
Cataract OMIM:190330
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Dementia, Subcortical dementia, Chorea, Spasticity, ... OMIM:606159
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Limb myoclonus, Waddling gait, F... ORPHA:2590
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholecystitis, Jaundice, Splenomegaly, Cholelithiasis OMIM:235700
Infantile Neuronal Ceroid Lipofuscinosis
Dementia, Chorea, Spasticity, Tremor, Poor fine motor coordination, Motor deterioration, Myocloni... ORPHA:79263
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Phenylketonuria
Lower limb spasticity, Depression, Tremor, Short attention span, Ataxia, Dementia ORPHA:716
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Babinski sign, Cholelithiasis, Low frustration tolerance, Spasticity, Shuffling gait, Decreased t... OMIM:300534
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ascites, Ovarian cyst, Increased circulati... ORPHA:64739
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Depression, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Hypermanganesemia With Dystonia 1
Decreased liver function, Bradykinesia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic tra... OMIM:613280
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Depression, Tremor, Cognitive impairment, Ataxia, Spastic ataxia, Un... OMIM:616795
Triosephosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spasticity, Tremor, Prolonged neonatal jaundice, Dystonia, Unsteady gai... OMIM:615512
Leukoencephalopathy With Calcifications And Cysts
Emotional lability, Spasticity, Tremor, Gait disturbance, Cognitive impairment, Dystonia, Ataxia,... ORPHA:542310
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Depression, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Acu... ORPHA:254881
Spherocytosis, Type 1
Jaundice, Splenomegaly, Cholelithiasis OMIM:182900
Galactose Mutarotase Deficiency
Cataract, Hepatomegaly, Cholestasis, Decreased liver function ORPHA:570422
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Biliary cirrhosis, Enlarged polycystic ovaries, Polycystic ov... ORPHA:2298
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Cholecystitis OMIM:266200
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis ORPHA:79084
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Myoclonus OMIM:613608
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Spinocerebellar Ataxia 50
Apraxia, Memory impairment, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
Galactose Epimerase Deficiency
Cataract, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Dysdiadocho... OMIM:224050
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Gait disturbance ORPHA:276435
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Irritability, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatomegaly, Progressive psychomotor deterioration, Tetraparesis, Spasticity, Tremor,... ORPHA:363400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Hypertonia, Steppage gait, Spasticity, Tremor, Mental deterioration OMIM:609260
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Male hypogonadism, Apraxia, Resting tremor, Emotional ... OMIM:300055
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Ataxia, Congenital hepatic fibrosis ORPHA:3156
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Short attention span, Bicornuate uterus, Shawl scrotum, Enlarged ovar... ORPHA:2745
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Xeroderma Pigmentosum, Complementation Group G
Cataract, Tremor, Ataxia OMIM:278780
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Abnormality of the ovary, Ascites, Peritonitis, Gonadal calcifi... ORPHA:314473
Estrogen Resistance Syndrome
Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p... ORPHA:785
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Classic Galactosemia
Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Postural tremor,... ORPHA:79239
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Frontotemporal dementia, Axial dystonia, Res... OMIM:612953
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria OMIM:213200
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia OMIM:600363
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Memory impairment, Depression, Truncal ataxia, Spasticity, Tr... OMIM:137440
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Depression, Chorea, Tremor, Action tremor, Dystonia, Ataxia, ... OMIM:619738
Progressive Supranuclear Palsy
Bradykinesia, Irritability, Memory impairment, Falls, Depression, Emotional lability, Impulsivity... ORPHA:683
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga... ORPHA:98773
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Irritability, Progressive cerebellar ataxia, Spastic dysarthria, Spa... ORPHA:282166
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Long penis, Precocious puberty, Increased pineal volume, Enlarged ovaries ORPHA:769
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Irritability, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Park... OMIM:261640
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Tremor, Gait ataxia, Dysmetria OMIM:610245
4H Leukodystrophy
Decreased response to growth hormone stimulation test, Abnormality of extrapyramidal motor functi... ORPHA:289494
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Dementia, Spasticity, Parkinsonis... OMIM:606693
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hypoparathyroidism, Hepatomegaly, Cholelithiasis, ... ORPHA:231222
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Cholelithiasis, Depression, Biliary tract obstruction, Splenic infarctio... ORPHA:77259
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Dementia, Memory... ORPHA:101
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis OMIM:194380
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Coats Disease
Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic... OMIM:601346
Hsd10 Disease
Tremor, Short attention span, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis,... ORPHA:391417
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Memory impairment, Resting tremor, Depression, Poor fine motor coordination, Dysdia... OMIM:300623
Late-Infantile/Juvenile Krabbe Disease
Irritability, Difficulty walking, Lower limb spasticity, Emotional lability, Mental deterioration... ORPHA:206443
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ... OMIM:618049
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Dysmetria OMIM:617916
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Cognitive impairment, Rigidity, Ataxia, Dementia OMIM:603472
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Atax... OMIM:610185
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Gait ataxia, Cognitive impairmen... OMIM:208920
Wagner Vitreoretinopathy
Optic atrophy, Cataract, Peripheral tractional retinal detachment, Retinal pigment epithelial atr... OMIM:143200
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Alpha-Thalassemia
Jaundice, Cholelithiasis, Cognitive impairment, Hepatosplenomegaly, Splenomegaly, Hypersplenism ORPHA:846
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Progressive psychomotor deterioration, Oculomotor apraxia, Spasticity, Tremor, Poor motor coordin... ORPHA:1170
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Trunca... ORPHA:369840
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Tremor, Gait disturbance, Progressive neurologic deterioration, Cryptorchidism ORPHA:1192
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance ORPHA:101075
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... ORPHA:240071
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic ... ORPHA:280219
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Ascites, Absent gallbladde... OMIM:615710
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract OMIM:614292
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Tongue fasciculations, Tremor, Myoclonus, Frequent falls, Dementia OMIM:159950
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Cerebrotendinous Xanthomatosis
Babinski sign, Progressive psychomotor deterioration, Cholelithiasis, Resting tremor, Abnormality... ORPHA:909
Leber Congenital Amaurosis 1
Hepatomegaly, Optic disc drusen, Keratoconus, Cataract, Pigmentary retinopathy OMIM:204000
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H... ORPHA:209902
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the liver, Abnormality of ... ORPHA:543
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr... ORPHA:171
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Cholelithiasis, Ataxia, Splenomegaly ORPHA:822
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Ataxia With Vitamin E Deficiency
Hypertonia, Mental deterioration, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemipa... ORPHA:96
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Chorea, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Hepatic steatosis OMIM:608709
Pelizaeus-Merzbacher Disease
Writer's cramp, Inability to walk, Broad-based gait, Depression, Mental deterioration, Tremor, In... OMIM:312080
Aromatase Deficiency
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... ORPHA:91
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism ORPHA:1643
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Ataxia, Dis... ORPHA:1020
Combined Oxidative Phosphorylation Deficiency 59
Attention deficit hyperactivity disorder, Cholelithiasis OMIM:620646
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis OMIM:232800
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... OMIM:619911
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Neuroferritinopathy
Bradykinesia, Babinski sign, Difficulty walking, Writer's cramp, Leg dystonia, Resting tremor, Ch... ORPHA:157846
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries ORPHA:280356
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Irritability, Inability to walk, Chorea, Confusion... OMIM:607483
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Macular degeneration, Truncal ataxia, Intention tremo... ORPHA:284289
8P Inverted Duplication/Deletion Syndrome
Hypertonia, Attention deficit hyperactivity disorder, Precocious puberty, Spastic tetraplegia, Ap... ORPHA:96092
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysm... OMIM:614831
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
Tetragametic Chimerism
Clitoral hypertrophy, Perineal hypospadias, Ovotestis, Bifid scrotum, Abnormal testis morphology,... ORPHA:199310
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Meckel Syndrome, Type 6
Abnormal internal genitalia, Bile duct proliferation, Cystic liver disease, Absent gallbladder, H... OMIM:612284
Metachromatic Leukodystrophy
Babinski sign, Gallbladder dysfunction, Emotional lability, Chorea, Tetraplegia, Gait disturbance... OMIM:250100
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Elevated circulating hepatic transaminase concentration, Chole... OMIM:614886
Stickler Syndrome Type 2
Retinal detachment, Corneal opacity, Cataract ORPHA:90654
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Truncal ataxia, Poo... ORPHA:137898
Leprechaunism
Clitoral hypertrophy, Hepatomegaly, Enlarged kidney, Long penis, Overgrowth of external genitalia... ORPHA:508
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Dementia, Resting tremor, Depression, Shuffling gait, Gait disturbance, Rigidity, D... OMIM:168601
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Depression, ... OMIM:614298
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Inability to walk... OMIM:128100
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Spastic paraparesis ORPHA:329284
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Spastic paraparesis, ... OMIM:300894
Mohr-Tranebjaerg Syndrome
Babinski sign, Oromandibular dystonia, Generalized dystonia, Inability to walk, Apraxia, Dementia... ORPHA:52368
Retinitis Pigmentosa 4
Cataract, Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy OMIM:613731
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... OMIM:618877
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Depression, Spasticity, Tremor, Gait disturbance, Microphallus, Cryptorch... OMIM:300957
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria OMIM:617810
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Broad-based gait, Elevated circulating alanine aminotransferase conce... OMIM:618805
Sneddon Syndrome
Memory impairment, Chorea, Tremor, Hemiparesis, Dementia, Mental deterioration ORPHA:820
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Deme... OMIM:183090
Behr Syndrome
Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Gait disturbance, ... OMIM:210000
Retinitis Pigmentosa 84
Cataract, Macular coloboma, Bone spicule pigmentation of the retina, Macular atrophy OMIM:618220
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia ORPHA:477673
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Ovarian Fibrothecoma
Ovarian fibroma, Abnormality of the ovary, Ascites, Abnormal endometrium morphology, Peritonitis,... ORPHA:314478
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Postural tremor, Hypogon... OMIM:607694
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Aceruloplasminemia
Limb ataxia, Akinesia, Abnormal pancreas morphology, Torticollis, Memory impairment, Chorea, Trem... ORPHA:48818
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Incoordination, Tremor, Frequent falls, Parapare... OMIM:302800
Saccharopinuria
Tremor, Cognitive impairment, Gait ataxia, Mental deterioration, Spastic diplegia ORPHA:3124
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenomegaly, Cardiomegaly OMIM:603903
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Hyperkinetic movements, Depression, Tremor... ORPHA:457240
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Abnormal pyramidal sign, Cr... OMIM:618060
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Parkinson-Dementia Syndrome
Tremor, Rigidity, Parkinsonism, Dementia, Abnormal pyramidal sign OMIM:260540
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Craniofacial dystonia, Head trem... ORPHA:420492
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Epilepsy, Familial Adult Myoclonic, 2
Dementia, Tremor, Blepharospasm, Cognitive impairment, Ataxia, Myoclonus OMIM:607876
Atypical Rett Syndrome
Pill-rolling tremor, Inability to walk, Apraxia, Spasticity, Tremor, Gait disturbance, Gait ataxi... ORPHA:3095
Hyperphenylalaninemia, Bh4-Deficient, B
Irritability, Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Progressive ne... OMIM:233910
Ppoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97278
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Abnormal ovarian morphology, Hypospadias, Abnormal... ORPHA:95699
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Cognitive impairment, R... ORPHA:70594
Peroxisome Biogenesis Disorder 5B
Decreased liver function, Oculomotor apraxia, Tremor, Ataxia, Unsteady gait, Dysmetria OMIM:614867
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration OMIM:193230
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Subcapsular cataract, Intention tremor, Ataxia, Cataract, Dysmetria OMIM:612674
Perry Syndrome
Abnormality of extrapyramidal motor function, Depression, Tremor, Parkinsonism, Dementia ORPHA:178509
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Spasticity, Tremor, Dystonia, Unsteady gait, Ankle clonus, Abnormal pyr... OMIM:617435
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Limb hypertonia, Spasticity, Tremor, Involuntary movements, Rigidity, Abnorma... ORPHA:442835
Cowden Syndrome
Adenoma sebaceum, Abnormal penis morphology, Enlarged polycystic ovaries, Cognitive impairment, A... ORPHA:201
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Sh... OMIM:311510
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Memory impairment, Resting tremor, Spa... ORPHA:247234
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev... OMIM:619662
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Depression, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Sho... OMIM:168600
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Distal Duplication 5Q
Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Testicular atrophy OMIM:313200
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Perry Syndrome
Bradykinesia, Akinesia, Frontotemporal dementia, Depression, Tremor, Rigidity, Dystonia, Parkinso... OMIM:168605
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Bangstad Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Ataxia, Abnormal testis morphology ORPHA:1227
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Glycogen Storage Disease Xii
Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating alanine aminotransferase concentrati... OMIM:611881
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Shuffling gait, Waddling gait, Loss of ambulation ORPHA:209335
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Female hypogonadism, Asplenia, Male... OMIM:240300
Classic Phenylketonuria
Hypertonia, Memory impairment, Paraplegia, Depression, Mental deterioration, Tremor, Attention de... ORPHA:79254
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Ataxia, Gait disturbance, Paraparesis ORPHA:99014
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Basel-Vanagaite-Smirin-Yosef Syndrome
Difficulty walking, Hypospadias, Cholelithiasis, Inability to walk, Spasticity, Male urethral mea... ORPHA:464738
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Spasticity, Limb dystonia, Rigidity, Parkinsonism, Dementia, Abnormal p... OMIM:616840
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Polycystic ovaries, Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:3085
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus OMIM:616494
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Depression, Emotional lability, Ovarian cyst, Mental deterioration OMIM:610475
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells... OMIM:228300
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Delirium, R... ORPHA:100924
Grfoma
Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97261
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Myopathy With Extrapyramidal Signs
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Difficulty walking, Abnorm... OMIM:615673
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Nummular pigmentation of the fundus, Cataract, Pigmentary retinopathy OMIM:613835
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Hemochromatosis, Type 4
Cataract, Cirrhosis, Hepatomegaly, Hepatic steatosis OMIM:606069
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Cognitive impairment, Ataxia ORPHA:36387
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Irritability, Hepatomegaly, Emotional lability, Tremor, Decreased testicular size, Ataxia, Spleno... OMIM:201100
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Xp22.13P22.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Slowed slurred speech, Polycystic ovaries, Macroorchidism ORPHA:284180
Adult-Onset Distal Myopathy Due To Vcp Mutation
Difficulty walking, Fasciculations, Depression, Tremor, Frequent falls, Parkinsonism, Progressive... ORPHA:329478
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Hepatic steatosis ORPHA:79085
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Hepatomegaly, Optic disc pallor OMIM:613730
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Opisthotonus, Right ventric... ORPHA:335
Meckel Syndrome, Type 3
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Apraxia, Depression, Ataxia, S... ORPHA:77293
Perrault Syndrome 4
Hypoplasia of the ovary, Bicornuate uterus, Cognitive impairment, Gait ataxia, Increased circulat... OMIM:615300
Tay-Sachs Disease
Fasciculations, Incoordination, Decerebrate rigidity, Myoclonus, Clumsiness, Mania, Memory impair... ORPHA:845
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ... ORPHA:273
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Intermittent jaundice, Splenomegaly, Cholelithiasis ORPHA:3202
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Young-Onset Parkinson Disease
Bradykinesia, Gait imbalance, Depression, Spasticity, Tremor, Short attention span, Cognitive imp... ORPHA:2828
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Splenomegaly, Cholelithiasis ORPHA:288
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Exaggerated startle response, Inability to walk, Optic disc pallor OMIM:609541
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Hypertonia, Steppage gait, Tremor, Gait ataxia, Intention tremor, Ataxia, Myoclonu... OMIM:616505
Lathosterolosis
Bilobate gallbladder, Ambiguous genitalia, male, Intrahepatic cholestasis, Elevated circulating a... OMIM:607330
Distal Deletion 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Short attention span, Precocious puberty, Hepatosplenomegaly, Chole... OMIM:301066
Donohue Syndrome
Clitoral hypertrophy, Long penis, Cholestasis, Precocious puberty, Ovarian cyst, Hepatic fibrosis... OMIM:246200
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, Ataxia, Abnormal... OMIM:614381
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis ORPHA:435651
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Migraine, Familial Hemiplegic, 2
Apraxia, Confusion, Tremor, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysmetria OMIM:602481
Niemann-Pick Disease Type C
Chorea, Ascites, Limb dystonia, Cognitive impairment, Ataxia, Splenomegaly, Myoclonus, Clumsiness... ORPHA:646
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Inability to walk, Depression, Truncal ataxia, Dysdiadochokinesi... OMIM:617675
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Spasticity, Tremor, Rigidity, Progressive neurologic deterioration, Dementia OMIM:176500
Gaucher Disease
Cirrhosis, Hepatomegaly, Cholelithiasis, Oculomotor apraxia, Abnormality of extrapyramidal motor ... ORPHA:355
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Hypertonia, Cholelithiasis, Oculomotor apraxia, Azoospermia, Broad-based gait, Spast... ORPHA:2072
Dystonia-Deafness Syndrome 1
Generalized dystonia, Leg dystonia, Oculogyric crisis, Loss of ambulation, Cataract OMIM:607371
Sickle Cell Anemia
Jaundice, Cholelithiasis, Splenic infarction, Abnormality of the spleen, Pigment gallstones ORPHA:232
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Irritability, Oculogyric crisis, Limb hypertonia, Tremor, Dystonia, Increased circ... ORPHA:35708
Cadds
Elevated circulating hepatic transaminase concentration, Cholangitis, Cholestasis, Dystonia, Cata... ORPHA:369942
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Difficulty walking, Exaggerated startle response, Optic disc pallor ORPHA:320406
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria ORPHA:529665
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:69665
Joubert Syndrome 6
Hepatic fibrosis, Ataxia, Oculomotor apraxia, Bile duct proliferation OMIM:610688
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the ovary ORPHA:2795
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Hepatomegaly, Cholelithiasis, Hypoplastic nipples, Exocrine pancreatic ... OMIM:618268
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... ORPHA:309854
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Cardiomegaly, Paraplegia, Truncal ataxia, Spasticity, Tremor, Confusion, Intention t... OMIM:105210
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc colobom... OMIM:120200
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperkinetic movements, Di... OMIM:615356
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Attention deficit hyperactivity disorder, Biliary atresia ORPHA:565899
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Congenital Generalized Lipodystrophy
Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Precocious puberty in females, Overgrowth of exter... ORPHA:528
Typhoid
Hypertonia, Hepatomegaly, Tremor, Ataxia, Splenomegaly ORPHA:99745
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign OMIM:608768
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Bohring-Opitz Syndrome
Annular pancreas, Inability to walk, Cholelithiasis, Lower limb hypertonia, Cardiomegaly ORPHA:97297
Bardet-Biedl Syndrome 1
Gait imbalance, Abnormality of the ovary, Decreased testicular size, Biliary tract abnormality, L... OMIM:209900
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor, Biliary tract abnormality, ... OMIM:175200
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Polycystic ovaries, Hepatomegaly, Hepatic steatosis ORPHA:435660
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Elevated circulating hepatic transaminase concentration, Hypergonadotropic hy... OMIM:268020
Meckel Syndrome, Type 7
Hypertonia, Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatos... OMIM:267010
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Gait disturbance, Spastic paraplegia, Pseudobulba... OMIM:616586
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Babinski sign, Hypertonia, Spasticity, Tremor, Upper motor neuron dysfunction, Dysd... ORPHA:99027
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis... OMIM:208540
Lipodystrophy, Familial Partial, Type 3