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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 gallbladder morphology	Shank1^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased locomotor activity	Shank1^em1(IMPC)Mbp	HOM	Early adult	1.92×10^-06
cataract	Shank1^em1(IMPC)Mbp	HOM	Early adult	8.46×10^-05
abnormal gait	Shank1^em1(IMPC)Mbp	HOM	Late adult	5.34×10^-05
abnormal skin morphology	Shank1^em1(IMPC)Mbp	HOM	Late adult	0.00
small liver	Shank1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Shank1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased exploration in new environment	Shank1^em1(IMPC)Mbp	HOM	Late adult	3.95×10^-10
enlarged ovary	Shank1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal vitreous body morphology	Shank1^em1(IMPC)Mbp	HOM	Early adult	9.09×10^-05
enlarged gallbladder	Shank1^em1(IMPC)Mbp	HOM	Late adult	0.00
tremors	Shank1^em1(IMPC)Mbp	HOM	Late adult	4.63×10^-06
abnormal coat/ hair morphology	Shank1^em1(IMPC)Mbp	HOM	Middle aged adult	2.15×10^-05
abnormal ovary morphology	Shank1^em1(IMPC)Mbp	HOM	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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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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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 (638 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	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
X-Linked Spinocerebellar Ataxia Type 4	Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal...	ORPHA:85292
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres...	OMIM:619491
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract, Ataxia	ORPHA:1397
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst...	ORPHA:401901
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism, Cognitive impairme...	OMIM:615768
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity	OMIM:611105
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Cholester...	OMIM:600803
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Galactosemia Iv	Cataract, Prolonged neonatal jaundice	OMIM:618881
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto...	ORPHA:79262
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Depression, Cholestatic live...	ORPHA:79095
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Focal dystonia, Irri...	ORPHA:216873
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental ...	OMIM:615924
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Mental deterioration, Spasticity	ORPHA:309169
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra...	OMIM:615362
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Depression, Gait at...	ORPHA:101109
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l...	OMIM:128235
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Spinocerebellar Ataxia 37	Tremor, Unsteady gait, Frequent falls, Ataxia	OMIM:615945
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Ataxia, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Galactosemia Ii	Cataract, Prolonged neonatal jaundice	OMIM:230200
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo...	ORPHA:314632
Alpha-Thalassemia	Hypersplenism, Splenomegaly, Jaundice, Cognitive impairment, Cholelithiasis	ORPHA:846
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or...	ORPHA:454887
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Depression, Myoclonus	OMIM:159900
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto...	OMIM:213600
Dysequilibrium Syndrome	Cataract, Ataxia, Gait disturbance	ORPHA:1766
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Dystonia 28, Childhood-Onset	Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Cognitive ...	OMIM:617284
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Hypergonadotropic hypogonadism, Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysm...	OMIM:617145
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At...	ORPHA:66624
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size, Gait disturbance	ORPHA:1875
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Metachromatic Leukodystrophy	Incoordination, Ataxia, Dystonia, Tremor, Abnormal gallbladder morphology, Hemobilia, Dementia, G...	ORPHA:512
Crigler-Najjar Syndrome Type 1	Tremor, Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice, Memory ...	ORPHA:79234
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Spinocerebellar Ataxia Type 38	Tremor, Difficulty walking, Gait ataxia	ORPHA:423296
Migraine, Familial Hemiplegic, 1	Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Cholelithiasis, Intrahepatic cholestasis	OMIM:605479
Epilepsy, Progressive Myoclonic 7	Mental deterioration, Ataxia, Tremor, Myoclonus	OMIM:616187
Spastic Paraparesis And Deafness	Tremor, Hypogonadism, Spastic paraparesis	OMIM:312910
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Parkinsonism with...	OMIM:616710
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Depression, Gait ataxia, Irritabi...	OMIM:618093
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Spastic Paraparesis-Deafness Syndrome	Cataract, Ataxia, Gait disturbance	ORPHA:2815
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract	OMIM:619813
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia...	ORPHA:363710
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Rigidity, Tremor, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm...	ORPHA:240085
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Rigidity, Splenomegaly, Tremor, Irritability, Dystonia, Loss of ambulation	OMIM:615010
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Irritability, Cholelithiasis	ORPHA:848
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Polycystic ovaries	ORPHA:488191
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic ...	OMIM:616719
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Hyperphenylalaninemia, Bh4-Deficient, C	Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonu...	OMIM:261630
Metachromatic Leukodystrophy, Adult Form	Short attention span, Dystonia, Chorea, Babinski sign, Progressive psychomotor deterioration, Emo...	ORPHA:309271
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni...	OMIM:606438
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Depression, Gait ataxia, Bradykinesia, Limb dystonia, ...	ORPHA:71517
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i...	ORPHA:98763
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:605909
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty...	ORPHA:98764
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking	OMIM:615048
Alpha-Methylacyl-Coa Racemase Deficiency	Hypergonadotropic hypogonadism, Ataxia, Tremor, Depression, Hemiparesis, Abnormality of the liver...	OMIM:614307
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Trichomegaly	Cataract	OMIM:190330
Parkinson-Dementia Syndrome	Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia	OMIM:260540
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B...	ORPHA:240094
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hyperkinetic movements, Attentio...	ORPHA:3166
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment	OMIM:614018
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Clumsiness, Hepatosplenomegaly, Eyelid myoclonus, Myocl...	ORPHA:2590
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Emotional lability, Waddling gait, Inability to walk	OMIM:616269
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Abnormal fear-indu...	ORPHA:3077
Cimdag Syndrome	Hepatomegaly, Ataxia, Microvesicular hepatic steatosis, Chorea, Hypogonadism, Dystonia, Cholelith...	OMIM:619273
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Leukoencephalopathy With Vanishing White Matter 2	Unsteady gait, Cataract, Optic atrophy	OMIM:620312
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr...	ORPHA:91348
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th...	ORPHA:2869
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Cerebrotendinous Xanthomatosis	Ataxia, Babinski sign, Abnormal pyramidal sign, Ankle clonus, Pseudobulbar paralysis, Dementia, D...	OMIM:213700
Progressive Supranuclear Palsy-Corticobasal Syndrome	Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi...	ORPHA:240103
Galactose Mutarotase Deficiency	Hepatomegaly, Cataract, Decreased liver function, Cholestasis	ORPHA:570422
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, Dystonia	OMIM:612126
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d...	OMIM:300423
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis	OMIM:235700
Coenzyme Q10 Deficiency, Primary, 9	Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myo...	OMIM:619028
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency	ORPHA:309108
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
Ataxia-Telangiectasia	Elevated hepatic transaminase, Ataxia, Tremor, Polycystic ovaries, Gait disturbance, Cognitive im...	ORPHA:100
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Infantile Neuronal Ceroid Lipofuscinosis	Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat...	ORPHA:79263
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Cataract	ORPHA:79238
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression...	OMIM:616795
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia	ORPHA:306669
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Upper motor n...	ORPHA:276435
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk	OMIM:619561
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines...	OMIM:613280
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Triosephosphate Isomerase Deficiency	Tremor, Splenomegaly, Jaundice, Unsteady gait, Prolonged neonatal jaundice, Cholecystitis, Dyston...	OMIM:615512
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis	OMIM:182900
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cryptorchidism, Babinski sign, Spasticity, Lower limb hypertonia, Low frustration tolerance, Shuf...	OMIM:300534
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depr...	ORPHA:254881
Senior-Loken Syndrome	Congenital hepatic fibrosis, Cataract, Ataxia, Abnormality of retinal pigmentation	ORPHA:3156
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:266200
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:79084
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Enlarged polycystic ovaries, Biliary cirrhosis, Polycystic ovaries, Abnormal sa...	ORPHA:2298
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor	OMIM:620158
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Abn...	ORPHA:363400
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental...	ORPHA:542310
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterioration, Tremor, Inabi...	OMIM:617013
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Hypertonia, Steppage gait, Mental deterioration, Spasticity	OMIM:609260
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Hepatosplenomegaly	OMIM:273680
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Mirizzi Syndrome	Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab...	ORPHA:521219
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Po...	OMIM:602347
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus	OMIM:268650
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the...	ORPHA:314473
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Opitz Gbbb Syndrome	Bifid scrotum, Short attention span, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate ut...	ORPHA:2745
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom...	ORPHA:231222
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration	OMIM:614292
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Emotional lability, Depression, Gait ataxia, Bradyki...	OMIM:137440
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A...	OMIM:619738
Inherited Creutzfeldt-Jakob Disease	Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr...	ORPHA:282166
Progressive Supranuclear Palsy	Impulsivity, Unsteady gait, Abnormal synaptic transmission, Bradykinesia, Depression, Dementia, F...	ORPHA:683
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr...	OMIM:143200
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Rabson-Mendenhall Syndrome	Enlarged ovaries, Precocious puberty, Long penis, Increased pineal volume, Clitoral hypertrophy	ORPHA:769
Classic Galactosemia	Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Incoordination, Ataxia, Postural tre...	ORPHA:79239
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis	OMIM:194380
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Ir...	OMIM:261640
Martinez-Frias Syndrome	Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ...	OMIM:601346
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism	ORPHA:397685
4H Leukodystrophy	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Ataxia, Tre...	ORPHA:289494
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Hsd10 Disease	Short attention span, Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spa...	ORPHA:391417
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Dysmetria, Gait ataxia, Chore...	ORPHA:101
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Cataract	OMIM:613801
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Hyperphenylalaninemia, Bh4-Deficient, B	Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinet...	OMIM:233910
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla...	ORPHA:785
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Depression, Gait ataxia,...	OMIM:300623
Neuronal Intranuclear Inclusion Disease	Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impairment	OMIM:603472
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation	OMIM:617916
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Limb ataxia, Gait ataxia, Dementia, Cogniti...	OMIM:208920
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int...	OMIM:610185
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait	OMIM:618387
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a...	ORPHA:1170
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy	OMIM:204000
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity	ORPHA:90654
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Confusion, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubat...	OMIM:607483
Pellagra-Like Syndrome	Cataract, Ataxia	OMIM:260650
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Akinesia, Tremor, Abn...	ORPHA:240071
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance	ORPHA:101075
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Dementia, Tongue fasciculations, Myoclonus, Difficulty walking, Frequent falls	OMIM:159950
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Annular pancreas, Panc...	OMIM:615710
Hereditary Spherocytosis	Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Cholelithiasis	ORPHA:822
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormality of the liver, Abnormality of ...	ORPHA:543
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy	OMIM:180104
Glycogen Storage Disease Vii	Cholelithiasis, Jaundice	OMIM:232800
Cerebrotendinous Xanthomatosis	Short attention span, Resting tremor, Dystonia, Ataxia, Parkinsonism, Paraparesis, Babinski sign,...	ORPHA:909
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abno...	ORPHA:1020
Retinitis Pigmentosa 84	Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma	OMIM:618220
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Myo...	OMIM:168601
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Polycystic ovaries	OMIM:608709
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Pelizaeus-Merzbacher Disease	Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor...	OMIM:312080
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Polycystic ovaries	ORPHA:1643
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata	OMIM:193230
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Cataract, Elevated circulating alanine aminotransferase concentra...	OMIM:618805
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor...	ORPHA:261529
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Retinitis Pigmentosa 4	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy	OMIM:613731
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy...	ORPHA:171
Neuroferritinopathy	Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Subco...	ORPHA:157846
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries	ORPHA:280356
Meckel Syndrome, Type 6	Abnormal internal genitalia, Absent gallbladder, Cystic liver disease, Bile duct proliferation, H...	OMIM:612284
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance	ORPHA:101078
Aromatase Deficiency	Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto...	ORPHA:91
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Progressive neurologic deterioration, Tremor, Cryptorchidism, Hypertonia, Gait disturbance	ORPHA:1192
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Babinski sign, Slurred speech, Unsteady gait, Clumsiness, Poor fine motor...	ORPHA:137898
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Metachromatic Leukodystrophy	Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Gallbladder dysfunction, Gait di...	OMIM:250100
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Oroma...	OMIM:614298
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormality of the male genitalia, Cholelithiasis, Hepatic failure, Elevated hepatic transaminase	OMIM:614886
Leprechaunism	Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,...	ORPHA:508
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Cryptorchidism, Spastic tetraplegia, Hypertonia, Aplasia/Hypoplasia of the ga...	ORPHA:96092
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors...	OMIM:128100
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Abn...	ORPHA:48818
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis, ...	OMIM:300894
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis	ORPHA:329284
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo...	OMIM:618877
Atypical Rett Syndrome	Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Pill-rol...	ORPHA:3095
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot...	ORPHA:228360
Spinocerebellar Ataxia 2	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Unsteady gait, Dysmetria, Limb at...	OMIM:183090
Sneddon Syndrome	Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment	ORPHA:820
Cochleosaccular Degeneration-Cataract Syndrome	Cataract, Ataxia	ORPHA:3233
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Behr Syndrome	Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity...	OMIM:210000
Ovarian Fibrothecoma	Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab...	ORPHA:314478
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di...	OMIM:302800
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystoni...	OMIM:607694
Saccharopinuria	Tremor, Spastic diplegia, Gait ataxia, Cognitive impairment, Mental deterioration	ORPHA:3124
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis	OMIM:603903
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking	ORPHA:477673
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97278
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait...	OMIM:311510
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment	OMIM:607876
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia, Sho...	OMIM:168600
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu...	ORPHA:420492
Cataract 47	Microcornea, Cataract	OMIM:612018
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,...	OMIM:617435
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Unsteady gait, Dysmetria, Decreased liver function, Oculomotor apraxia	OMIM:614867
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia...	ORPHA:70594
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa...	ORPHA:95699
Intellectual Developmental Disorder, X-Linked 12	Tremor, Cryptorchidism, Depression, Hyperkinetic movements, Gait disturbance, Microphallus, Spast...	OMIM:300957
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Dyst...	OMIM:168605
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Ataxia, Enlarged polycystic ovaries, Adenoma se...	ORPHA:201
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Perry Syndrome	Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function	ORPHA:178509
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc...	ORPHA:442835
Preeclampsia	Elevated hepatic transaminase, Abnormality of the hepatic vasculature, Polycystic ovaries	ORPHA:275555
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Cholestasis	ORPHA:232
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Tremor, Depression, Hyperkinetic movements...	ORPHA:457240
Glycogen Storage Disease Xii	Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration...	OMIM:611881
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Tortuosity of conjunctival vessels, Dysmetria, Limb ataxia, Progressive cerebellar atax...	ORPHA:284289
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Asplenia, Male hypogonadism, C...	OMIM:240300
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis	ORPHA:171876
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom...	OMIM:618060
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism	OMIM:613546
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Ataxia, Gait disturbance	ORPHA:99014
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Hepatic steatosis, Cirrhosis	OMIM:606069
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy	OMIM:613835
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni...	OMIM:616840
Distal Duplication 5Q	Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Classic Phenylketonuria	Tremor, Paraplegia, Depression, Hypertonia, Hemiplegia, Attention deficit hyperactivity disorder,...	ORPHA:79254
Hereditary Elliptocytosis	Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice	ORPHA:288
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Inability to walk, Male urethral meatus stenosis, Difficulty walking, Cholelithiasis...	ORPHA:464738
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97261
Bangstad Syndrome	Abnormality of the parathyroid gland, Abnormal testis morphology, Ataxia, Polycystic ovaries	ORPHA:1227
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Pigmented Nodular Adrenocortical Disease, Primary, 2	Depression, Ovarian cyst, Mental deterioration, Emotional lability, Pancreatitis	OMIM:610475
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Tay-Sachs Disease	Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Precocious p...	ORPHA:845
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Clonus, Tremor, Splenomegaly, Chorea, Clumsi...	OMIM:615673
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cataract, Optic disc pallor	OMIM:613730
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ...	OMIM:228300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cryptorchidism, Hypergonadotropic hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:3085
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Testicular atrophy, Fasciculations	OMIM:313200
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Ataxia, Hypersplenism, Splenomegaly, Depression, Neoplasm of the liver, Decreased l...	ORPHA:77293
Dehydrated Hereditary Stomatocytosis	Splenomegaly, Cholelithiasis, Portal vein thrombosis, Intermittent jaundice	ORPHA:3202
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment	ORPHA:36387
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Slowed slurred speech, Attention deficit hyperactivity disorder, Polycystic ovaries	ORPHA:284180
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Cataract, Difficulty walking, Truncal...	ORPHA:369840
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Short attention span, Endometrial carcinoma, Hypergonadotropic hyp...	ORPHA:273
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Perrault Syndrome 4	Increased circulating gonadotropin level, Gait ataxia, Hypoplasia of the uterus, Bicornuate uteru...	OMIM:615300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis	OMIM:618775
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Hypogonadism, Emotional lability, Decre...	OMIM:201100
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Opisthotonus, Left ventricular hypertrophy, Micropenis...	ORPHA:335
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Young-Onset Parkinson Disease	Short attention span, Tremor, Rigidity, Depression, Frontal lobe dementia, Bradykinesia, Dementia...	ORPHA:2828
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Short attention span, Hepatomegaly, Precocious puberty, Hepatosplenomegaly, Cholecystitis, Cholel...	OMIM:301066
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Joubert Syndrome 9	Cataract, Hepatic fibrosis, Astigmatism	OMIM:612285
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Donohue Syndrome	Precocious puberty, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cel...	OMIM:246200
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, D...	OMIM:614381
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Ataxia, Optic atrophy, Dysmetria, Subcapsular cataract	OMIM:612674
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Steppage gait, Myoclonus, Inte...	OMIM:616505
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Pro...	ORPHA:646
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Paralysis, Splenomegaly, Abnormality of the spleen, Spastic paraplegia, Limb at...	ORPHA:2072
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Depression, Limb ataxia, Dysdiadochokinesis, Diffic...	OMIM:617675
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:435651
Migraine, Familial Hemiplegic, 2	Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity	OMIM:176500
Distal Deletion 10P	Cryptorchidism, Hypoplasia of penis, Polycystic ovaries	ORPHA:1580
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,...	ORPHA:329478
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure	ORPHA:774
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Hypoplastic nipples, Decreased liver function...	OMIM:618268
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma	OMIM:212550
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegal...	ORPHA:309854
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries	ORPHA:2795
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Lo...	ORPHA:93399
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Confusion, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemipa...	OMIM:105210
Joubert Syndrome 6	Oculomotor apraxia, Bile duct proliferation, Hepatic fibrosis, Ataxia	OMIM:610688
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries...	ORPHA:528
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia, Attention deficit hyperactivity disorder	ORPHA:565899
Bohring-Opitz Syndrome	Cardiomegaly, Inability to walk, Lower limb hypertonia, Cholelithiasis, Annular pancreas	ORPHA:97297
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity	ORPHA:529665
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Dystonia, Ataxia, Waddling gait, Tre...	OMIM:615356
Genetic Hyperferritinemia Without Iron Overload	Cataract, Elevated hepatic iron concentration	ORPHA:254704
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Typhoid	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia	ORPHA:99745
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology, Polycystic ovaries	ORPHA:435660
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign...	ORPHA:99027
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati...	OMIM:208540
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Hypert...	OMIM:267010
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Polycystic ovaries	OMIM:268020
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Ovarian cyst, Precocious pu...	OMIM:175200
Bardet-Biedl Syndrome 1	Decreased testicular size, Ataxia, Poor coordination, Biliary tract abnormality, Hypogonadism, Va...	OMIM:209900
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,...	OMIM:616586
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Cirrhosis, Polycystic ovaries	OMIM:604367
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Tremor, Abnormality of the pancreas, Jaundice, Depression, Abnorma...	ORPHA:69665
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary	ORPHA:247768
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo...	OMIM:607060
Porphyria, Congenital Erythropoietic	Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis	OMIM:263700
Pentalogy Of Cantrell	Absent gallbladder, Hypospadias, Polysplenia	ORPHA:1335
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis	ORPHA:2348
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Pancreatitis	ORPHA:79083
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t...	ORPHA:199351
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo...	ORPHA:90793
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Cholestasis, P...	ORPHA:264580
Cowden Syndrome 6	Goiter, Hydrocele testis, Ovarian cyst, Varicocele, Intention tremor	OMIM:615109
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritabil...	OMIM:601104
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma	OMIM:617100
Cowden Syndrome 5	Hydrocele testis, Ovarian cyst, Intention tremor, Goiter	OMIM:615108
Serotonin Syndrome	Confusion, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Myoclonus, Mental deterioration, H...	ORPHA:43116
Exudative Vitreoretinopathy 6	Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,...	OMIM:616468
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Confusion, Tremor, Pancreatitis, Irritability, Hepat...	ORPHA:247585
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hypertonia, Dement...	ORPHA:447753
Aniridia 3	Aniridia, Cataract	OMIM:617142
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina	OMIM:617925
Cowden Syndrome 1	Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Intention tremor, Varicocele, Goiter	OMIM:158350
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Paralysis, Microvesic...	OMIM:203700
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Spasticity, Panc...	OMIM:618500
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Tremor, Splenomegaly, C...	ORPHA:1454
Estrogen Resistance	Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries	OMIM:615363
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein...	ORPHA:90797
Cadds	Elevated hepatic transaminase, Cataract, Cholangitis, Cholestasis	ORPHA:369942
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance	ORPHA:83629
Kallmann Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Breast hypopl...	ORPHA:478
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis, Goiter	OMIM:613239
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hypospadias, Cryptorchidism, Splenomegaly, Depression, Hypoplasia of the thym...	ORPHA:567
Trisomy 8P	Cryptorchidism, Micropenis, Annular pancreas, Aplasia/Hypoplasia of the gallbladder	ORPHA:264450
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Hepatosplenomegaly...	OMIM:607330
Congenital Factor Vii Deficiency	Ovarian cyst	ORPHA:327
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova...	ORPHA:79240
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism	OMIM:300712
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu...	ORPHA:562
Luscan-Lumish Syndrome	Slurred speech, Polycystic ovaries	OMIM:616831
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dementia, Cogniti...	ORPHA:25
Digeorge Syndrome	Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hemip...	OMIM:188400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Micropenis, Pancreatic hypoplasia	ORPHA:83617
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Cataract, Ataxia, Splenomegaly, Jaundice, Inability to walk, Nuclear cataract	OMIM:608885
Williams Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Involuntary movements, Ataxia, Cardiomegaly, ...	ORPHA:904
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Fucosidosis	Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Abnormal pyramidal sign, Spastic tetr...	ORPHA:349
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Progressive neurologic deterioration, Bile duct proliferation, Mac...	OMIM:618329
Trisomy 10P	Absent gallbladder, Poor motor coordination, Rectovaginal fistula	ORPHA:171929
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal...	ORPHA:90795
Coenzyme Q10 Deficiency, Primary, 1	Hypergonadotropic hypogonadism, Ataxia, Tremor, Myoclonus, Loss of ambulation, Right hemiplegia, ...	OMIM:607426
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Jaundice, Cholestasis, Abnorma...	ORPHA:79303
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, O...	ORPHA:744
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the pancreas, Abno...	ORPHA:3376
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Genitopalatocardiac Syndrome	Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal mesentery morphology, Abnormali...	ORPHA:2075
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Micropenis, Hypospadias, Cryptorchidism	ORPHA:163979
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Polycystic ovaries	ORPHA:1770
Ring Chromosome 13 Syndrome	Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Ambiguous genitalia, Micropenis, Uroge...	ORPHA:96176
Wilson Disease	Acute hepatic failure, Hepatocellular carcinoma, Tremor, Hand tremor, Limb dystonia, Hepatic stea...	OMIM:277900
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis...	ORPHA:263479
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim...	OMIM:618056
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Exocrine pancreatic insufficiency, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Pancre...	ORPHA:2255
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Cirrhosis, Hepatic steatosis	ORPHA:79086
Ataxia-Telangiectasia	Female hypogonadism, Ataxia, Tremor, Inability to walk, Slurred speech, Abnormal spermatogenesis,...	OMIM:208900
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Chronic hepatitis, Keratoconjunctivitis, Cirrhos...	OMIM:269200
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Resting tremor, Ataxia, Tremor, Rigidity, Depression, Gait ataxia,...	ORPHA:254892
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Pancreatic cysts, Sple...	ORPHA:731
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst	ORPHA:454840
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Ovarian Dysgenesis 3	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:614324
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head ...	OMIM:606002
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the pancreas, Abn...	ORPHA:887
Oculoauricular Syndrome	Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste...	OMIM:612109
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment	OMIM:146500
Proteus-Like Syndrome	Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries	ORPHA:2969
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
Short Syndrome	Ovarian cyst	OMIM:269880
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Fibrous Dysplasia Of Bone	Antalgic gait, Precocious puberty in females, Testicular neoplasm, Elevated circulating growth ho...	ORPHA:249
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Ascites, ...	ORPHA:100086
Mednik Syndrome	Cirrhosis, Cataract, Hepatic fibrosis, Cholestasis	OMIM:609313
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Zttk Syndrome	Absent gallbladder, Spasticity	OMIM:617140
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy...	OMIM:608594
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Irritability, Hypertonia	ORPHA:1578
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Nodular goiter, Premature thelarche, Polycystic ovaries	ORPHA:371428
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cerulean cataract, ...	ORPHA:67036
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Polycystic ovaries, Hepatic steatosis	OMIM:151660
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Jaundice, Biliary atresia, Oligozoospermia, Micropenis	ORPHA:3310
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis	ORPHA:280365
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Jaundice, Confusion, Prolonged neonatal jaundice	OMIM:274150
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Pancreatic hypoplasia, Biliary atresia	OMIM:600001
Hyperparathyroidism, Transient Neonatal	Ovarian cyst, Hyperparathyroidism, Enlarged kidney, Splenic cyst	OMIM:618188
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Dystonia, Cardiomegaly, Tremor, ...	ORPHA:51
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy...	OMIM:269700
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Pituitary adenoma, Neoplasm of the gallbladder, He...	ORPHA:733
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Dysmetria, Developmental cataract	OMIM:620185
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary tract abnorm...	OMIM:261540
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hepatocellular adenoma, Polycystic ovaries, Cognitive impairment, Hepatocellular ca...	ORPHA:79259
Infantile Systemic Hyalinosis	Polycystic ovaries	ORPHA:2176
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Bile duct ...	OMIM:261515
Carney Complex	Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce...	ORPHA:1359
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Ovarian serous cystadenoma, Enlarged kidney	ORPHA:276280
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Unsteady gait, Remnants of the hyaloid vascular system, Cortical ...	ORPHA:637
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio...	OMIM:208500
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of th...	OMIM:614527
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Spasticity	ORPHA:500150
Histiocytoid Cardiomyopathy	Hemiplegia, Hepatomegaly, Polycystic ovaries, Cardiomegaly	ORPHA:137675
Orofaciodigital Syndrome I	Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Hepatic cysts	OMIM:311200
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He...	OMIM:619991
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ...	ORPHA:353281
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Biliary cirrhosis, Choles...	OMIM:613610
African Trypanosomiasis	Hepatomegaly, Abnormal central motor function, Involuntary movements, Akinesia, Paralysis, Tremor...	ORPHA:3385
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Increased circulating gonadotropin level, Biliary cirrhosis, Depre...	ORPHA:99413
Turner Syndrome	Elevated hepatic transaminase, Increased circulating gonadotropin level, Biliary cirrhosis, Depre...	ORPHA:881
Mosaic Monosomy X	Elevated hepatic transaminase, Increased circulating gonadotropin level, Biliary cirrhosis, Depre...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Increased circulating gonadotropin level, Biliary cirrhosis, Depre...	ORPHA:99226
Meckel Syndrome, Type 1	Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia...	OMIM:249000
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol...	ORPHA:572333
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist...	OMIM:201750
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Small scrotum, Portal hypertension, Cholestasis, Bile duct prolife...	OMIM:613658
Neuroocular Syndrome	Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ...	OMIM:619539
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353277
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the gallbladder, Hypertonia, Att...	ORPHA:818
Wolf-Hirschhorn Syndrome	Hypospadias, Ataxia, Cryptorchidism, Abnormality of the gallbladder, Abdominal situs inversus	ORPHA:280
Combined Immunodeficiency-Enteropathy Spectrum	Abnormal ductus choledochus morphology, Hypoplasia of the thymus, Hepatitis, Peritoneal abscess	ORPHA:436252
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Anterior pituitary hypoplasia, Elevated circulating aspartate aminotransferase conc...	OMIM:619534
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,...	OMIM:300166
Neurofibroma	Enlargement of parotid gland, Abnormal biliary tract morphology	ORPHA:252183
Alström Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi...	ORPHA:64
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170

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

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X-ray

Human diseases caused by Shank1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data