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Gene: Shank1 MGI:3613677

Gene Summary

Name:

SH3 and multiple ankyrin repeat domains 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal gait	Shank1^em1(IMPC)Mbp	HOM	Late adult	5.34×10^-05
increased grip strength	Shank1^em1(IMPC)Mbp	HOM	Middle aged adult	4.89×10^-10
enlarged ovary	Shank1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Shank1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal gallbladder morphology	Shank1^em1(IMPC)Mbp	HOM	Late adult	0.00
tremors	Shank1^em1(IMPC)Mbp	HOM	Late adult	4.63×10^-06
abnormal ovary morphology	Shank1^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged gallbladder	Shank1^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased locomotor activity	Shank1^em1(IMPC)Mbp	HOM	Early adult	1.92×10^-06
abnormal coat/ hair morphology	Shank1^em1(IMPC)Mbp	HOM	Middle aged adult	2.15×10^-05
small liver	Shank1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Shank1^em1(IMPC)Mbp	HOM	Early adult	8.70×10^-05
cataract	Shank1^em1(IMPC)Mbp	HOM	Early adult	1.21×10^-05
decreased exploration in new environment	Shank1^em1(IMPC)Mbp	HOM	Late adult	3.95×10^-10
abnormal skin morphology	Shank1^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased startle reflex	Shank1^em1(IMPC)Mbp	HOM	Early adult	7.38×10^-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

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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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.

Human diseases associated with Shank1 (0 diseases)
Human diseases predicted to be associated with Shank1 (662 diseases)

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	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	Cirrhosis, Hepatic steatosis, Polycystic ovaries	OMIM:604367
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tip-toe gait, Babinski sign, Tremor, Gait disturbance, Spastic paraplegia	ORPHA:83629
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Corneal scarring, Cataract, Buphthalmos, Macular atrophy, Iris coloboma	OMIM:212550
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Parkinson Disease 8, Autosomal Dominant	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607060
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Pentalogy Of Cantrell	Absent gallbladder, Hypospadias, Polysplenia	ORPHA:1335
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis	ORPHA:79083
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Preeclampsia	Polycystic ovaries, Elevated circulating hepatic transaminase concentration, Abnormality of the h...	ORPHA:275555
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis	ORPHA:2348
Porphyria, Congenital Erythropoietic	Jaundice, Splenomegaly, Cholelithiasis, Hepatomegaly	OMIM:263700
Cowden Syndrome 6	Intention tremor, Varicocele, Ovarian cyst, Goiter, Hydrocele testis	OMIM:615109
Cowden Syndrome 5	Goiter, Intention tremor, Ovarian cyst, Hydrocele testis	OMIM:615108
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Frontotemporal dementia, Depression, Spasticity, Parkinsonism with favorable respon...	ORPHA:199351
Hyperekplexia 2	Astigmatism, Exaggerated startle response	OMIM:614619
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating hepatic transaminase con...	ORPHA:264580
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Asplenia	ORPHA:210122
Supranuclear Palsy, Progressive, 1	Bradykinesia, Irritability, Akinesia, Gait imbalance, Retrocollis, Axial dystonia, Memory impairm...	OMIM:601104
Citrullinemia Type Ii	Irritability, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentration...	ORPHA:247585
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Serotonin Syndrome	Irritability, Hypertonia, Confusion, Tremor, Clonus, Rigidity, Delirium, Myoclonus, Mental deteri...	ORPHA:43116
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Deme...	OMIM:203700
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp...	OMIM:608643
Neurodegeneration With Brain Iron Accumulation 1	Bradykinesia, Babinski sign, Akinesia, Dementia, Abnormality of extrapyramidal motor function, De...	OMIM:234200
Isolated Aniridia	Cataract, Peters anomaly, Aniridia	ORPHA:250923
Cowden Syndrome 1	Intention tremor, Varicocele, Ovarian cyst, Goiter, Ovarian carcinoma, Hydrocele testis	OMIM:158350
Familial Adenomatous Polyposis 4	Uterine leiomyoma, Ovarian cyst	OMIM:617100
Autosomal Dominant Spastic Paraplegia Type 9A	Spastic gait, Babinski sign, Spastic dysarthria, Memory impairment, Falls, Tremor, Lower limb hyp...	ORPHA:447753
Kallmann Syndrome	Breast hypoplasia, Anterior hypopituitarism, Hypoplasia of penis, Paraplegia, Tremor, Gait distur...	ORPHA:478
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Oculomotor apra...	ORPHA:1454
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hypospadias, Cholelithiasis, Depression, Hypoplasia of the thymus, Splenomega...	ORPHA:567
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Micropenis, Uterus didelphys	OMIM:617925
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Spasticity, Elevated circulating alanine aminotransferase concentration, Pancreatic aplasia, Exoc...	OMIM:618500
Trisomy 8P	Annular pancreas, Cryptorchidism, Micropenis, Aplasia/Hypoplasia of the gallbladder	ORPHA:264450
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Ataxia, Exaggerated startle response	OMIM:616881
Exudative Vitreoretinopathy 6	Patchy atrophy of the retinal pigment epithelium, Retinal detachment, Tractional retinal detachme...	OMIM:616468
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Periodic paralysis, Tremor	OMIM:613239
Congenital Factor Vii Deficiency	Ovarian cyst	ORPHA:327
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Hypospadias	OMIM:300712
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Cholestasis, Abnormal testis morphology, Hepatitis, Precoci...	ORPHA:562
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepat...	ORPHA:79240
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:562639
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Ambiguous genital...	ORPHA:3376
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, Cryptorchidism, Micropenis	ORPHA:83617
Digeorge Syndrome	Cholelithiasis, Hypoplasia of the thymus, Hemiparesis, Parathyroid hypoplasia, Ovarian cyst, Sple...	OMIM:188400
Fucosidosis	Abnormality of the gallbladder, Hepatomegaly, Cardiomegaly, Spasticity, Abnormal pyramidal sign, ...	ORPHA:349
Glutaryl-Coa Dehydrogenase Deficiency	Chorea, Tremor, Athetosis, Poor motor coordination, Limb dystonia, Cognitive impairment, Rigidity...	ORPHA:25
Williams Syndrome	Cardiomegaly, Cholelithiasis, Hypoplasia of penis, Abnormality of extrapyramidal motor function, ...	ORPHA:904
Luscan-Lumish Syndrome	Polycystic ovaries, Slurred speech	OMIM:616831
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital sinus anomaly, Ova...	ORPHA:1772
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Long penis, Premature the...	ORPHA:90795
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Hypospadias, Male pseudohermaphroditism, Abnormal mesentery morph...	ORPHA:2075
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Micropenis, Hypospadias	ORPHA:163979
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome...	ORPHA:79303
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary	ORPHA:3109
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular...	OMIM:618329
Parkinson Disease 21	Bradykinesia, Rigidity, Tremor, Parkinsonism	OMIM:616361
Trisomy 10P	Absent gallbladder, Poor motor coordination, Rectovaginal fistula	ORPHA:171929
Caroli Syndrome	Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:480520
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Posterior subcapsular cataract, Posterior cortical cataract, Resting tremor, Anter...	ORPHA:67036
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Enlarged polycystic ovaries, ...	ORPHA:744
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Inability to walk, Ataxia, Splenomegaly, Cataract, Nuclear cataract	OMIM:608885
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria	OMIM:618056
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Polycystic ovaries	ORPHA:1770
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Ataxia, Exaggerated startle response	OMIM:268800
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cataract, Tremor, Exaggerated startle response	OMIM:620327
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Hypospadias, Bifid scrotum, Urogenital sinus anomaly, Ambiguous ge...	ORPHA:96176
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Spastic Tetraplegia And Axial Hypotonia, Progressive	Ataxia, Exaggerated startle response	OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Oculomotor apraxia, Depression, Spasticity, Tremor, Frequent falls, Dystonia, ...	OMIM:612716
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Hepatic steatosis	ORPHA:79086
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine...	ORPHA:2255
Autosomal Dominant Progressive External Ophthalmoplegia	Bradykinesia, Hypertonia, Elevated circulating hepatic transaminase concentration, Resting tremor...	ORPHA:254892
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Optic nerve hypoplasia, Inability to walk, Exaggerated startle response	OMIM:617864
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Papilledema,...	ORPHA:263479
Ovarian Dysgenesis 3	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:614324
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Exaggerated startle response	ORPHA:309155
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor	OMIM:619649
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid...	OMIM:609049
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Portal hyperte...	ORPHA:731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s...	OMIM:614643
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Abnormal spermatoge...	OMIM:208900
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma	ORPHA:454840
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ...	OMIM:106210
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Oculomotor apraxia, Chorea, Tremor, Head tremor, Gait ataxia, Dystonia, Progressive ...	OMIM:606002
Vacterl/Vater Association	Abnormality of the gallbladder, Hypospadias, Hypoplasia of penis, Bifid scrotum, Abnormal morphol...	ORPHA:887
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Babinski sign, Tremor, Cognitive impairment, Rigidity, Ataxia, Parkinsonism	OMIM:146500
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepatitis, Exocrine pancreat...	OMIM:269200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Retinal dysplasia, Retinal detachment, Exaggerated startle response, Cataract	OMIM:253800
Proteus-Like Syndrome	Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Keratitis, Ataxia, Conjunctivitis, Cataract, Choreoathetosis, Keratoc...	OMIM:278730
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Reti...	OMIM:612109
Wilson Disease	Portal fibrosis, Parkinsonism with favorable response to dopaminergic medication, Ascites, Limb d...	OMIM:277900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Ataxia, Exaggerated startle response, Broad-based gait	ORPHA:438216
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Irritability, Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism	ORPHA:1578
Fibrous Dysplasia Of Bone	Difficulty walking, Precocious puberty in females, Testicular neoplasm, Hyperpituitarism, Ovarian...	ORPHA:249
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Hardikar Syndrome	Decreased liver function, Irritability, Cirrhosis, Jaundice, Elevated circulating hepatic transam...	OMIM:301068
Short Syndrome	Ovarian cyst	OMIM:269880
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Cataract 20, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract	OMIM:116100
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Ascites, Biliary tract neoplasm, Cholecystitis,...	ORPHA:100086
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Clitoral hypert...	OMIM:608594
Zttk Syndrome	Absent gallbladder, Spasticity	OMIM:617140
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Difficulty walking, Exaggerated startle response, Gait ataxia, Ataxia	OMIM:620451
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Nodular goiter, Polycystic ovaries, Premature thelarche	ORPHA:371428
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186
Hereditary Hemorrhagic Telangiectasia	Cirrhosis, Hepatic arteriovenous malformation, Cholelithiasis, Portal hypertension, Cholecystitis...	ORPHA:774
Tetrasomy 9P	Jaundice, Biliary atresia, Oligozoospermia, Absent gallbladder, Cryptorchidism, Micropenis	ORPHA:3310
Bardet-Biedl Syndrome	Hydrometrocolpos, Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of ...	ORPHA:110
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Labial pseudohypertrophy, Acute pancreatitis, Polycystic ovaries, Hepatic steatosis	OMIM:151660
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis	ORPHA:280365
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Ovarian cyst, Hyperparathyroidism, Splenic cyst	OMIM:618188
Thrombotic Thrombocytopenic Purpura, Hereditary	Prolonged neonatal jaundice, Confusion, Jaundice, Tremor	OMIM:274150
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Pancreatic hypoplasia, Biliary atresia	OMIM:600001
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Clitoral hypert...	OMIM:269700
Aicardi-Goutières Syndrome	Irritability, Hypertonia, Difficulty walking, Elevated circulating hepatic transaminase concentra...	ORPHA:51
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response	OMIM:184850
Atelis Syndrome 2	Dysmetria, Developmental cataract, Remnants of the hyaloid vascular system	OMIM:620185
Peters-Plus Syndrome	Bilobate gallbladder, Hypospadias, Clitoral hypoplasia, Biliary tract abnormality, Hypoplasia of ...	OMIM:261540
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, He...	ORPHA:1359
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Dystonia, Lethargy, Exaggerated startle response	OMIM:620423
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Enlarged kidney, Increased hepatic glycogen c...	ORPHA:79259
Infantile Systemic Hyalinosis	Polycystic ovaries	ORPHA:2176
Alkaptonuria	Black pigment gallstones, Prostatitis	ORPHA:56
D-Bifunctional Protein Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bile duct pro...	OMIM:261515
Hemihyperplasia-Multiple Lipomatosis Syndrome	Ovarian serous cystadenoma, Enlarged kidney, Hydrocele testis	ORPHA:276280
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Exaggerated startle response	OMIM:617301
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Bile duct proliferation, Polycystic liver disease, Hepatic fibrosis, Pancreatic fibrosi...	OMIM:208500
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Aplasia of the vagina, Aplasia of the ut...	OMIM:614527
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Spasticity	ORPHA:500150
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Exaggerated startle response	OMIM:617281
Histiocytoid Cardiomyopathy	Cardiomegaly, Hemiplegia, Polycystic ovaries, Hepatomegaly	ORPHA:137675
Orofaciodigital Syndrome I	Hepatic cysts, Hepatic fibrosis, Ovarian cyst, Pancreatic cysts	OMIM:311200
Full Nf2-Related Schwannomatosis	Cortical cataract, Posterior subcapsular cataract, Unsteady gait, Remnants of the hyaloid vascula...	ORPHA:637
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Ascites, Biliary hyperplasia, Splenomega...	OMIM:619991
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Dystonia, Exaggerated startle response	ORPHA:521426
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Oligomenorrhea, Abnormal fear-induced behavior	OMIM:219090
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Exaggerated startle response	ORPHA:79255
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit...	OMIM:613610
Familial Adenomatous Polyposis	Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ...	ORPHA:733
Norrie Disease	Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t...	ORPHA:649
Asparagine Synthetase Deficiency	Optic nerve hypoplasia, Tremor, Exaggerated startle response	OMIM:615574
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, De...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, De...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, De...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, De...	ORPHA:99226
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Exaggerated startle response	OMIM:617527
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353281
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl...	OMIM:201750
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu...	ORPHA:572333
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Cho...	OMIM:613658
Meckel Syndrome, Type 1	Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Asplenia, Bile duct pro...	OMIM:249000
Neuroocular Syndrome	Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Lens coloboma, Brushfield sp...	OMIM:619539
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:619525
Smith-Lemli-Opitz Syndrome	Hypertonia, Abnormality of the gallbladder, Clitoral hypertrophy, Hypospadias, Hypoplasia of peni...	ORPHA:818
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Hypospadias, Ataxia, Cryptorchidism, Abdominal situs inversus	ORPHA:280
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Aggressive behavior, Abnormal fear-induced behavior, Emoti...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Aggressive behavior, Abnormal fear-induced behavior, Emoti...	ORPHA:353277
Microphthalmia, Syndromic 2	Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmental cataract,...	OMIM:300166
Combined Immunodeficiency-Enteropathy Spectrum	Abnormal ductus choledochus morphology, Hepatitis, Hypoplasia of the thymus, Peritoneal abscess	ORPHA:436252
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Intrahepatic bile duct dilatation, Anterior pituitary hypoplas...	OMIM:619534
Neurofibroma	Abnormal biliary tract morphology, Enlargement of parotid gland	ORPHA:252183
Alström Syndrome	Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Incoordin...	ORPHA:64
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Remnants of the hyaloid vascular system	OMIM:603671
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Inability to walk, Broad-based gait, Exaggerated startle response, Dystonia, Optic disc pallor	ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Shank1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Shank1.

No publications found that use IMPC mice or data for Shank1.

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MGI Allele	Allele Type	Produced
Shank1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Shank1^{tm39541(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Shank1 MGI:3613677

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Shank1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data