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Gene: Mapt MGI:97180

Gene Summary

Name:

microtubule-associated protein tau

Synonyms:

Mtapt, Tau

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 retina blood vessel morphology	Mapt^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.70×10^-14
decreased exploration in new environment	Mapt^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.97×10^-10
increased fluid intake	Mapt^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.45×10^-05
abnormal retina vasculature morphology	Mapt^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.70×10^-14
polycystic kidney	Mapt^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased total retina thickness	Mapt^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.14×10^-07
persistence of hyaloid vascular system	Mapt^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.22×10^-10
decreased grip strength	Mapt^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.47×10^-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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

1 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Mapt 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 Mapt (13 diseases)
Human diseases predicted to be associated with Mapt (1420 diseases)

The table below shows human diseases associated to Mapt by orthology or direct annotation.

Disease	Matching phenotypes	Source
Progressive Non-Fluent Aphasia	Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormality of extrapyr...	ORPHA:100070
Semantic Dementia	Dementia	ORPHA:100069
Frontotemporal Dementia	Neuronal loss in central nervous system, Amyotrophic lateral sclerosis	OMIM:600274
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal cerebral atrophy, Fasciculations, Astrocytosis, Abnormality of extrapyramidal moto...	ORPHA:275864
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
Supranuclear Palsy, Progressive, 1	Cerebral atrophy, Astrocytosis, Retrocollis, Tremor, Rigidity, Parkinsonism, Gliosis, Neuronal lo...	OMIM:601104
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Neuromuscular dysphagia, Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response ...	ORPHA:240085
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome	Mental deterioration, Deficit in phonologic short-term memory	ORPHA:240112
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Neuromuscular dysphagia, Falls, Progressive extrapyramidal muscular rigidity, Akin...	ORPHA:240071
Pick Disease Of Brain	Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition	OMIM:172700
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykine...	OMIM:168600
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L...	ORPHA:240094

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

Disease	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Schizophrenia 15	Hyperactivity	OMIM:613950
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Posterior Column Ataxia	Impaired vibratory sensation, Impaired proprioception, Ataxia	OMIM:176250
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal ...	OMIM:105550
Amyotrophic Lateral Sclerosis 16, Juvenile	Weakness of the intrinsic hand muscles, Lower limb spasticity, Amyotrophic lateral sclerosis, Low...	OMIM:614373
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal...	OMIM:613954
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy, Tetrapar...	OMIM:617892
Spinal Muscular Atrophy, Type Iv	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:271150
Amyotrophic Lateral Sclerosis 11	Upper motor neuron dysfunction, Decreased nerve conduction velocity, Skeletal muscle atrophy, Amy...	OMIM:612577
Spinal Muscular Atrophy, Type Iii	Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Lower limb muscle weakn...	OMIM:253400
Cataract-Ataxia-Deafness-Retardation Syndrome	Short stature, Developmental cataract, Distal sensory impairment, Ataxia	OMIM:212710
Amyotrophic Lateral Sclerosis 9	Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:611895
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Neuronal loss in central nervous system, Proximal amyotrophy, Amyotrophic lateral sclerosis, Fasc...	OMIM:608030
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes...	OMIM:607641
Frontotemporal Dementia With Motor Neuron Disease	Progressive cerebellar ataxia, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper...	ORPHA:275872
Gilles De La Tourette Syndrome	Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto...	OMIM:137580
Progressive Non-Fluent Aphasia	Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormality of extrapyr...	ORPHA:100070
Amyotrophic Lateral Sclerosis 1	Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Pseudobulbar ...	OMIM:105400
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Spinal Muscular Atrophy, Type Ii	Tongue fasciculations, Skeletal muscle atrophy, Hand tremor, Spinal muscular atrophy, Degeneratio...	OMIM:253550
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration	OMIM:614844
Amyotrophic Lateral Sclerosis 5, Juvenile	Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower moto...	OMIM:602099
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Ataxia, Dystonia, ...	OMIM:618093
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Gliosis, Amyotrophic lateral sclerosis	OMIM:300857
Monomelic Amyotrophy	Fasciculations, Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Tremor,...	ORPHA:65684
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Limb muscle weakness, Amyotrophic lateral sclerosis, Fasciculations	OMIM:619141
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Amyotrophic Lateral Sclerosis 18	Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations	OMIM:614808
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block, Abnormal motor neuron morphology	DECIPHER:31
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Cerebral atrophy, Amyotrophic lateral sclerosis	OMIM:105500
Amyotrophic Lateral Sclerosis 20	Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis	OMIM:615426
Familial Infantile Bilateral Striatal Necrosis	Optic atrophy, Spasticity, Upper limb muscle weakness, Lower limb muscle weakness, Tetraparesis, ...	ORPHA:225154
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Growth delay, Cogwheel rigidity, Decreased body weight, Babinski sign, Attention deficit hyperact...	OMIM:618284
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract, Ataxia	ORPHA:1397
Nephronophthisis 9	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Retinal degeneration, Polyuria, Ren...	OMIM:613824
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin...	OMIM:608636
Juvenile Primary Lateral Sclerosis	Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Abnormal pyramidal s...	ORPHA:247604
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti...	OMIM:611637
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations...	OMIM:616437
Dysequilibrium Syndrome	Cataract, Cerebral palsy, Gait disturbance, Ataxia, Short stature	ORPHA:1766
Amyotrophic Lateral Sclerosis 4, Juvenile	Distal amyotrophy, Amyotrophic lateral sclerosis, Decreased compound muscle action potential ampl...	OMIM:602433
Spastic Paraparesis-Deafness Syndrome	Cataract, Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance,...	ORPHA:2815
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Axonal degeneration, Proximal amyotrophy, Tetraplegia, Gliosis, Dege...	OMIM:604484
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 64	Spasticity, Reduced social reciprocity, Aggressive behavior, Hypertonia, Slurred speech	OMIM:618103
Hypertrophic Neuropathy And Cataract	Cataract, Distal sensory impairment	OMIM:239900
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor ne...	ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Cataract, Limb ataxia, Gait ataxia	OMIM:617133
Spinocerebellar Ataxia 37	Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Babinski sign, Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612069
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia	OMIM:617018
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Amyotrophic Lateral Sclerosis 2, Juvenile	Spasticity, Amyotrophic lateral sclerosis, Hand muscle atrophy, Spasticity of facial muscles, Opi...	OMIM:205100
Spastic Paraparesis And Deafness	Short stature, Cataract, Spastic paraparesis, Tremor	OMIM:312910
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn...	ORPHA:803
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ...	OMIM:616053
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608631
N-Acetylaspartate Deficiency	Broad-based gait, Self-mutilation, Decreased body weight, Short stature, Truncal ataxia, Unsteady...	OMIM:614063
Intellectual Developmental Disorder, Autosomal Recessive 66	Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness	OMIM:618221
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Falls, Bruxism, Chorea, Inappropriate laughter, Dystonia, Motor stereotypy, Aggressive behavior, ...	OMIM:619150
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Short statu...	OMIM:276880
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy	OMIM:615987
Senior-Loken Syndrome 4	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Rod-cone dystrophy	OMIM:606996
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Myoclonus, S...	OMIM:159950
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Reduced social reciprocity, Torticollis, Kinet...	OMIM:611092
Spinocerebellar Ataxia Type 23	Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Impaired distal vibration sen...	ORPHA:101108
Pontocerebellar Hypoplasia, Type 1A	Tongue fasciculations, Cerebral cortical atrophy, Distal amyotrophy, Congenital contracture, Hand...	OMIM:607596
Autosomal Recessive Spastic Paraplegia Type 43	Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraparesis, Knee flexion contr...	ORPHA:320370
Xeroderma Pigmentosum, Complementation Group G	Cataract, Spasticity, Tremor, Ataxia, Growth delay, Small for gestational age	OMIM:278780
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Short stature, Pica, Motor stereotypy, Choreoatheto...	OMIM:617270
Primary Lateral Sclerosis, Juvenile	Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decrea...	OMIM:606353
Bardet-Biedl Syndrome 16	Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Retinal degeneration, Renal ...	OMIM:615993
Amyotrophic Lateral Sclerosis 8	Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Postur...	OMIM:608627
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi...	ORPHA:204
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor	ORPHA:217012
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Hyperactivity	ORPHA:356996
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:606070
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Cerebellar atrophy, Hand tremor, Hand muscle weakness,...	OMIM:302800
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Machado-Joseph Disease Type 3	Spasticity, Degeneration of the striatum, Skeletal muscle atrophy, Cerebellar atrophy, Spinocereb...	ORPHA:276244
Inherited Creutzfeldt-Jakob Disease	Global brain atrophy, Central nervous system degeneration, Progressive extrapyramidal muscular ri...	ORPHA:282166
Autism, Susceptibility To, 20	Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity	OMIM:618830
Aids Wasting Syndrome	Cachexia, Weight loss, Anorexia	ORPHA:90081
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Motor stereotypy, Reduced social reciprocity	OMIM:606053
Spinal Muscular Atrophy, X-Linked 2	Tongue fasciculations, Decreased compound muscle action potential amplitude, Multiple joint contr...	OMIM:301830
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Distal amyotrophy, Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsifle...	OMIM:302802
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Alexander Disease Type I	Spasticity, Failure to thrive, Cachexia, Abnormal pyramidal sign, Ataxia, Dysphagia, Palatal tremor	ORPHA:363717
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebral cortical atrophy, Spastic paraparesis, Skeletal muscle atrophy, Resting tremor, Cerebral...	OMIM:615157
Semantic Dementia	Dementia	ORPHA:100069
Spinocerebellar Ataxia Type 38	Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor	ORPHA:423296
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia	ORPHA:309169
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor, Premature graying of hair	OMIM:190200
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal lower motor neuron morphology, Abno...	ORPHA:95434
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations	OMIM:613435
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency, Retinal vascular tortuosity	ORPHA:73229
Autism	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:607373
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Huntington Disease-Like 2	Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Weight loss, Dystonia	ORPHA:98934
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Amyotrophic lateral sclerosis, F...	ORPHA:52430
Christianson Syndrome	Inappropriate laughter, Thick eyebrow, Gait ataxia, Cachexia, Dysphagia, Truncal ataxia, Dystonia...	ORPHA:85278
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Obesity, Intrauterine growth retardation, Limb dystonia, Tremor, Aggressive behavior, Hyperactivi...	OMIM:620270
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Idiopathic Camptocormia	Myelitis, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Cerebral atrophy...	ORPHA:1320
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Dystonia 11, Myoclonic	Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive behaviors	OMIM:159900
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Tongue fasciculations, Abnormal anterior horn cell morphology, Skeleta...	ORPHA:1145
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Abnormal nerve conduction velocity, Tremor, Paraparesis, Ataxia, Skeletal muscle h...	ORPHA:99014
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsi...	ORPHA:496756
Meckel Syndrome 13	Polycystic kidney dysplasia, Retinopathy	OMIM:617562
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Focal dystonia, Violent behavior, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness...	ORPHA:216873
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Hand tremor, Gait ataxia, Recurrent hand flapping, Motor stereotypy, Short stat...	OMIM:617862
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Involuntary movements, Spasticity, Inability to walk, Reduced social rec...	OMIM:617820
Moynahan Syndrome	Short stature, Alopecia, Sparse hair, Cachexia	ORPHA:2574
Frontotemporal Dementia	Neuronal loss in central nervous system, Amyotrophic lateral sclerosis	OMIM:600274
Bardet-Biedl Syndrome 17	Polydipsia, Stage 5 chronic kidney disease, Retinal degeneration, Cone/cone-rod dystrophy, Renal ...	OMIM:615994
Pandas	Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi...	ORPHA:66624
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Cerebral cortical atrophy, Astrocytosis, Myoclonus, Rigidity, Babinski sign, Neuronal loss in cen...	OMIM:600795
Juvenile Amyotrophic Lateral Sclerosis	Arm dystonia, Tip-toe gait, Difficulty walking, Inability to walk, Chorea, Spastic diplegia, Retr...	ORPHA:300605
Migraine, Familial Hemiplegic, 1	Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation	OMIM:141500
Riboflavin Transporter Deficiency	Iris hypopigmentation, Myoclonus, Tremor, Aggressive behavior, Cachexia, Ataxia, Dysphagia	ORPHA:97229
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Mulibrey Nanism	Short stature, Intrauterine growth retardation, Cachexia	ORPHA:2576
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Reduced social reciprocity, Hyperkinetic movements, Aggressive beh...	OMIM:619738
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Babinski sign, Parkinsonism, Neurogenic...	OMIM:615911
Spinocerebellar Ataxia Type 37	Falls, Somatic sensory dysfunction, Myoclonus, Cogwheel rigidity, Tremor, Limb dysmetria, Gait di...	ORPHA:363710
Spinocerebellar Ataxia 35	Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins...	OMIM:613908
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Global brain atrophy, Amyotrophic lateral sclerosis	OMIM:619132
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation	OMIM:619651
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di...	OMIM:613550
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro...	ORPHA:464440
Primary Lateral Sclerosis	Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology...	ORPHA:35689
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Chorea, Benign Familial	Chorea	OMIM:215450
Optic Atrophy 3, Autosomal Dominant	Cataract, Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Cataract-Ataxia-Deafness Syndrome	Ataxia, Tremor, Developmental cataract, Hypertonia, Short stature	ORPHA:1368
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Spinocerebellar Ataxia Type 35	Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T...	ORPHA:276193
Bardet-Biedl Syndrome 9	Polydipsia, Attenuation of retinal blood vessels, Renal insufficiency, Retinal degeneration, Poly...	OMIM:615986
X-Linked Creatine Transporter Deficiency	Chorea, Self-mutilation, Cachexia, Hyperactivity, Hypertonia, Ataxia, Short stature, Dystonia, At...	ORPHA:52503
Pontocerebellar Hypoplasia Type 1	Tongue fasciculations, Spasticity, Optic atrophy, Skeletal muscle atrophy, Cerebral cortical atro...	ORPHA:2254
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Astigmatism, Cranio...	OMIM:617284
Vocal Cord And Pharyngeal Distal Myopathy	Rimmed vacuoles, Vocal cord paresis, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakne...	ORPHA:600
Atypical Rett Syndrome	Spasticity, Loss of ambulation, Involuntary movements, Limb myoclonus, Inability to walk, Stereot...	ORPHA:3095
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Cataract 11, Multiple Types	Cataract, Chorea, Developmental cataract, Hypertonia	OMIM:610623
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig...	ORPHA:101110
Kleine-Levin Syndrome	Transient global amnesia, Depression, Polydipsia, Confusion, Abnormal eating behavior, Irritabili...	ORPHA:33543
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Juvenile Huntington Disease	Broad-based gait, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Weight loss, Hyperactivity,...	ORPHA:248111
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance, Hyperactivity, Del...	OMIM:618090
Paroxysmal Exertion-Induced Dyskinesia	Involuntary movements, Chorea, Paresthesia, Aggressive behavior, Lower limb spasticity, Ataxia, T...	ORPHA:98811
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia	OMIM:615957
Hereditary Geniospasm	Chin myoclonus, Abnormal social behavior	ORPHA:53372
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat...	ORPHA:726
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Intellectual Developmental Disorder, X-Linked 109	Intrauterine growth retardation, Stereotypical body rocking, Recurrent hand flapping, Agitation, ...	OMIM:309548
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss, Ataxia	OMIM:613662
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal sensory impairment, Tremor	OMIM:614369
Fraxe Intellectual Disability	Intrauterine growth retardation, Stereotypical body rocking, Recurrent hand flapping, Agitation, ...	ORPHA:100973
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cataract, Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Cerebellar ataxia associate...	OMIM:224050
Foxg1 Syndrome	Spasticity, Difficulty walking, Inability to walk, Bruxism, Myoclonus, Reduced social reciprocity...	ORPHA:561854
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Inappropriate laughter, Self-mutilation, Tremor, Aggressive behavior, Waddling...	OMIM:616269
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr...	OMIM:611067
Lichtenstein-Knorr Syndrome	Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Short stature, Dysdiadochokinesis	OMIM:616291
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Gait ataxia, Failure to thrive	OMIM:612075
Rett Syndrome	Spasticity, Bruxism, Gait ataxia, Stereotypical hand wringing, Cachexia, Gait apraxia, Short stat...	OMIM:312750
Hsd10 Disease	Spastic paraparesis, Postnatal growth retardation, Myoclonus, Tremor, Rigidity, Gait disturbance,...	ORPHA:391417
Spinocerebellar Ataxia, X-Linked 1	Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Dysphagia, In...	OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig...	OMIM:607317
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Myelopathy, Htlv-1-Associated	Spastic paraparesis, Abnormal pyramidal sign, Myelopathy	OMIM:159580
Bardet-Biedl Syndrome 4	Renal cyst, Abnormality of the kidney, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Spinocerebellar Ataxia 23	Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab...	OMIM:610245
Spinocerebellar Ataxia Type 12	Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abn...	ORPHA:98762
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Aggressive behavior, Involuntary movements, Motor stereotypy, Agitation	OMIM:617171
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia, Dyst...	OMIM:615924
Mast Syndrome	Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weakness, Cerebral...	OMIM:248900
Huntington Disease	Oral-pharyngeal dysphagia, Difficulty walking, Polyphagia, Weight loss, Clonus, Bradykinesia, Poo...	ORPHA:399
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Distal sensory impairment, Tremor, Fasciculations	OMIM:615048
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract, Hirsutism, Hyperactivity, Short stature, Small for gestational age	ORPHA:85288
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait	OMIM:615768
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Flynn-Aird Syndrome	Cataract, Alopecia, Impaired pain sensation, Cachexia, Ataxia	ORPHA:2047
Senior-Loken Syndrome 1	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal...	OMIM:266900
X-Linked Non Progressive Cerebellar Ataxia	Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int...	ORPHA:314978
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct...	OMIM:604320
Autosomal Recessive Spastic Paraplegia Type 25	Spastic paraplegia, Paraparesis, Abnormality of peripheral nerve conduction	ORPHA:101005
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Spastic dysarthria	ORPHA:401830
Boucher-Neuhauser Syndrome	Spasticity, Distal amyotrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait a...	OMIM:215470
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary...	ORPHA:93101
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Peroxisome Biogenesis Disorder 8B	Cataract, Spasticity, Spastic paraparesis, Tip-toe gait, Failure to thrive, Gait ataxia, Dysmetri...	OMIM:614877
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Nephronophthisis-Like Nephropathy 2	Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata...	OMIM:619468
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Gait ataxia, Distal sens...	OMIM:617225
Renal Glucosuria	Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria	OMIM:233100
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Spastic Paralysis, Infantile-Onset Ascending	Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Achilles ...	OMIM:607225
Spinocerebellar Ataxia 18	Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Spinocerebellar Ataxia 12	Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress...	OMIM:604326
Developmental And Epileptic Encephalopathy 97	Inability to walk, Tremor, Stereotypical hand wringing	OMIM:619561
X-Linked Charcot-Marie-Tooth Disease Type 3	Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Decreased motor ...	ORPHA:101077
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal cerebral atrophy, Fasciculations, Astrocytosis, Abnormality of extrapyramidal moto...	ORPHA:275864
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Leg muscle stiffness, Myoclonus, Tremor, Rigidity, Babinski sign,...	OMIM:606693
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tandem gait, Lower limb spa...	OMIM:619028
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c...	ORPHA:98763
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Dysphagia, Hyperactivity, Impulsivity	OMIM:620448
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Generalized hirsutism, Cachexia, Short stature, Ataxia	ORPHA:1933
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia	OMIM:618709
Joubert Syndrome 20	Renal cyst, Aggressive behavior, Retinopathy, Self-mutilation	OMIM:614970
Spastic Paraplegia 46, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Cataract, Hand tremor, Impaired vibration sensa...	OMIM:614409
Joubert Syndrome 16	Renal cyst, Nephronophthisis, Coloboma, Retinal dystrophy	OMIM:614465
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia	OMIM:616187
Pelizaeus-Merzbacher Disease	Spasticity, Failure to thrive in infancy, Cachexia, Gait disturbance, Ataxia, Short stature, Dyst...	ORPHA:702
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Hirsutism, Tremor, Ataxia, Short stat...	OMIM:610185
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Spastic Ataxia 4, Autosomal Recessive	Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sig...	OMIM:613672
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Spasticity, Head tremor, Impaired vibration sensation in the lower limbs, Gait ataxia, Impaired p...	ORPHA:352641
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300425
Autosomal Dominant Spastic Paraplegia Type 73	Progressive spastic paraplegia, Progressive spastic paraparesis, Distal lower limb amyotrophy, Di...	ORPHA:444099
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Short stature, U...	OMIM:213200
Intellectual Developmental Disorder, X-Linked 104	Spasticity, Frontal upsweep of hair, Tremor, Aggressive behavior, Hyperactivity, Ataxia	OMIM:300983
Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:454887
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia	OMIM:606438
Vitamin B12-Unresponsive Methylmalonic Acidemia	Optic atrophy, Tetraparesis, Leukopenia, Macrocytic anemia, Paraparesis, Thrombocytopenia, Ataxia...	ORPHA:27
Dystonia 16	Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,...	ORPHA:210571
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Nephronophthisis 3	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R...	OMIM:604387
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Dysphagia, Im...	ORPHA:276435
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Myoclonus, Pontocerebellar atrophy, Clumsiness, Paraparesis, Lower limb spasticity, A...	OMIM:617854
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia	ORPHA:599373
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia, Hypertonia	ORPHA:1389
Baker-Gordon Syndrome	Self-injurious behavior, Involuntary movements, Inability to walk, Hyperkinetic movements, Motor ...	OMIM:618218
Nephronophthisis 4	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul...	OMIM:606966
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Attention deficit h...	OMIM:619725
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements, Self-injurious behavior, Reduced social reciprocity, Stereotypical hand w...	ORPHA:397933
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di...	OMIM:256100
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity...	OMIM:607483
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Simplified gyral pattern	OMIM:613402
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Hyperprolinemia, Type I	Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia	OMIM:239500
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d...	OMIM:213600
Isaacs Syndrome	Weight loss, Distal sensory impairment, Fasciculations	ORPHA:84142
Autosomal Spastic Paraplegia Type 58	Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat...	ORPHA:397946
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Myoclon...	ORPHA:254343
Chromosome 3Q29 Deletion Syndrome	Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g...	OMIM:609425
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable response to d...	OMIM:620482
Spinal muscular atrophy, type I, with congenital bone fractures	Decreased muscle mass, Acute infantile spinal muscular atrophy, Arachnodactyly, Flexion contractu...	OMIM:271225
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Gait di...	OMIM:617145
Primary Angiitis Of The Central Nervous System	Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia	ORPHA:140989
Severe Intellectual Disability And Progressive Spastic Paraplegia	Spasticity, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Excessive shyness,...	ORPHA:280763
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Speech a...	OMIM:613670
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,...	ORPHA:284324
Spinocerebellar Ataxia Type 27	Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Aggressive behavior,...	ORPHA:98764
Spastic Paraplegia 75, Autosomal Recessive	Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Distal lower limb amyotrophy,...	OMIM:616680
Intellectual Developmental Disorder, Autosomal Dominant 7	Incoordination, Failure to thrive in infancy, Intrauterine growth retardation, Inappropriate laug...	OMIM:614104
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy	OMIM:619470
Renpenning Syndrome	Severe short stature, Iris coloboma, Alopecia, Abnormal hairshaft morphology, Cataract, Thin eyeb...	ORPHA:3242
Dystonia 12	Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait, Dysphagia	OMIM:128235
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Intrauterine growth retardation, Hypertonia, Motor stereotypy, Spastic t...	OMIM:615282
Combined Oxidative Phosphorylation Deficiency 45	Failure to thrive, Tremor, Ataxia	OMIM:618951
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Dysphagi...	OMIM:607346
Neurodegeneration With Brain Iron Accumulation 7	Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia, Dysphagia	OMIM:617916
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Reduced social reciprocity, Aggressive behavior, Polyphagia, Short stature	ORPHA:329249
Adrenoleukodystrophy	Spastic paraplegia, Lower limb muscle weakness, Incoordination, Neurodegeneration, Limb ataxia, P...	OMIM:300100
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Central Diabetes Insipidus	Anorexia, Depression, Polydipsia, Nocturia	ORPHA:178029
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Spasticity, Broad-based gait, Difficulty walking, Inability to walk, Lim...	OMIM:617695
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Self-mutilation, Abnormality of neuronal migration, Impulsivity, Aggressive behav...	OMIM:604317
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob...	ORPHA:231736
4H Leukodystrophy	Cataract, Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ataxi...	ORPHA:289494
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Hereditary Central Diabetes Insipidus	Polydipsia, Irritability	ORPHA:30925
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Cataract, Pseudobulbar paralysis, Tremor, Babinski sign, Gait dis...	OMIM:616586
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra...	ORPHA:71517
Type 1 Diabetes Mellitus	Polyphagia, Polydipsia, Polyuria	OMIM:222100
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cerebral atrophy...	OMIM:611890
Cronkhite-Canada Syndrome	Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Anorexia, Dystrophic fingernails, Patch...	ORPHA:2930
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Progressive cerebellar ataxia, Cataract, Fasciculations, Tortuosity of conjunctival vessels, Limb...	ORPHA:284289
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Optic disc c...	ORPHA:2260
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Renal hypoplasia, Optic disc coloboma, Retinal coloboma, Vesicouret...	ORPHA:1475
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Spasticity, Inability to walk, Chorea, Gait ataxia, Stereotypical hand w...	OMIM:618917
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
X-Linked Adrenoleukodystrophy	Leg muscle stiffness, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, P...	ORPHA:43
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hypertonia, Dystonia, Dysphagia, Choreoathetosis	OMIM:261630
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor...	ORPHA:3077
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower...	OMIM:600363
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Myoclonic-Atonic Epilepsy	Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Spastic Paraplegia 5A, Autosomal Recessive	Spastic paraplegia, Cataract, Impaired vibration sensation in the lower limbs, Postural tremor, L...	OMIM:270800
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, A...	OMIM:221770
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Aggressive behavior, Parkinson...	OMIM:137440
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia	OMIM:618387
Ochoa Syndrome	Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena...	ORPHA:2704
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Cataract, Spasticity, Failure to thrive, Difficulty walking, Motor stereotypy	OMIM:617393
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Lower limb muscle weakness, Myoclonus, Tremor, Abnormal lower motor neuron morpho...	ORPHA:2590
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis	ORPHA:231445
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Bruxism, Obesity, Tremor...	OMIM:300055
Developmental Delay And Seizures With Or Without Movement Abnormalities	Tremor, Rigidity, Dystonia, Ataxia, Short stature, Bradykinesia	OMIM:617836
Lopes-Maciel-Rodan Syndrome	Spasticity, Bradykinesia, Bruxism, Tremor, Ankle clonus, Dystonia, Motor stereotypy, Abnormal pyr...	OMIM:617435
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia	OMIM:615362
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Paroxysmal bursts of lau...	OMIM:618718
Poliomyelitis	Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Upper limb muscle weakness, Low...	ORPHA:2912
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Polyglucosan Body Neuropathy, Adult Form	Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Neurogenic bladder, Ort...	OMIM:263570
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Progressive spastic paraplegia, Progressive spastic paraparesis, Ankle clonus, Babinski sign, Tet...	ORPHA:506353
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Spinocerebellar Ataxia, Autosomal Recessive 13	Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Short stature...	OMIM:614831
Congenital Myasthenic Syndromes With Glycosylation Defect	Generalized weakness of limb muscles, Abnormal peripheral nervous system synaptic transmission, T...	ORPHA:353327
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,...	OMIM:606159
Spinocerebellar Ataxia 42	Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga...	OMIM:616795
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Gait disturbance	ORPHA:157973
Huntington Disease-Like 1	Involuntary movements, Incoordination, Chorea, Gait ataxia, Simultanapraxia, Dysmetria, Clumsines...	ORPHA:157941
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Decreased body weight, Short stature, Small for gestational age, Waddling gait	OMIM:618392
Leukodystrophy, Hypomyelinating, 11	Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia	OMIM:616494
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso...	ORPHA:314632
Developmental And Epileptic Encephalopathy 58	Inability to walk, Motor stereotypy, Spastic diplegia	OMIM:617830
X-Linked Charcot-Marie-Tooth Disease Type 1	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101075
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata...	OMIM:600116
Ane Syndrome	Ulnar deviation of the hand, Motor neuron atrophy, Multiple joint contractures, Generalized amyot...	ORPHA:157954
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Spasticity, Inability to walk, Failure to thrive in infancy, Intrauterine growth retardation, Cac...	OMIM:616801
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Inappropriate behavior, Extrapyramidal muscular rigidity, Speech apraxia, F...	ORPHA:99750
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia,...	OMIM:261640
Spastic Paraplegia 48, Autosomal Recessive	Spastic paraplegia, Spastic paraparesis, Lower limb muscle weakness, Dysmetria, Parkinsonism, Low...	OMIM:613647
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, Scissor gait, ...	ORPHA:521406
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Paraparesis, Spinal arteriovenous malformation	ORPHA:53721
Senior-Loken Syndrome 3	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu...	OMIM:606995
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia	OMIM:614018
Hyperparathyroidism 2 With Jaw Tumors	Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren...	OMIM:145001
19Q13.11 Microdeletion Syndrome	Cataract, Microcornea, Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Failure to thrive...	ORPHA:217346
Spastic Paraplegia 9A, Autosomal Dominant	Spastic paraplegia, Resting tremor, Abnormal upper motor neuron morphology, Gait ataxia, Hoffmann...	OMIM:601162
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Facial hypotonia, Astrocytosis	OMIM:611087
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Chorea, Paresthesia, Intrauterine growth retardation, Dysmetria, Abnormal ...	ORPHA:48431
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia	ORPHA:210128
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Perry Syndrome	Short stepped shuffling gait, Inappropriate behavior, Akinesia, Tremor, Rigidity, Dystonia, Disin...	OMIM:168605
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Cerebrotendinous Xanthomatosis	Tendon xanthomatosis, Spasticity, Spastic paraparesis, Resting tremor, Myelopathy, Abnormal tibia...	ORPHA:909
Mantle Cell Lymphoma	Weight loss, Anorexia	ORPHA:52416
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Postnatal growth retardation, Chorea, Pro...	ORPHA:309246
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Alopecia, Paresthesia, Nail dystrophy, Cachexia, Anorexia	OMIM:175500
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Arima Syndrome	Optic atrophy, Nephronophthisis, Polydipsia, Chorioretinal coloboma, Stage 5 chronic kidney disea...	OMIM:243910
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to...	ORPHA:391411
Spastic Paraplegia 20, Autosomal Recessive	Spastic paraplegia, Distal amyotrophy, Spastic paraparesis, Spastic gait, Lower limb muscle weakn...	OMIM:275900
Syngap1-Related Developmental And Epileptic Encephalopathy	Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Tremor, Reduced so...	ORPHA:544254
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weaknes...	OMIM:614487
Mcdonough Syndrome	Short stature, Cachexia, Synophrys	ORPHA:2471
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm...	OMIM:609270
Eales Disease	Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb...	ORPHA:40923
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Short stature, Postural tremor, Posterior subcapsular cataract, Ataxia	OMIM:300619
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Dysphagia, Tremor, Ataxia	OMIM:618637
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Impaired pain sensation, Paresthesia, Limb ataxia, Gait ataxia, Distal sensory impair...	OMIM:616719
Neurodegeneration With Brain Iron Accumulation 6	Distal amyotrophy, Spastic paraparesis, Neurodegeneration, Rigidity, Bradykinesia, Spastic tetrap...	OMIM:615643
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myoclonic spasms, Ataxia,...	ORPHA:79263
Oromandibular Dystonia	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Hyperkinetic mov...	ORPHA:93958
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem...	ORPHA:276198
Neuroectodermal Melanolysosomal Disease	Spasticity, Premature graying of hair, Tremor, Rigidity, Hypertonia, Ataxia, Hypopigmentation of ...	ORPHA:33445
Spinocerebellar Ataxia Type 40	Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebellar atrophy, Intenti...	ORPHA:423275
X-Linked Charcot-Marie-Tooth Disease Type 4	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101078
Morm Syndrome	Cataract, Aggressive behavior, Truncal obesity, Hyperactivity	ORPHA:75858
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Short stature, Progressive spasticity, Growth delay	ORPHA:2528
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Parki...	ORPHA:329284
Alexander Disease Type Ii	Spasticity, Spastic paraparesis, Limb muscle weakness, Cervical spinal cord atrophy, Rigidity, Ba...	ORPHA:363722
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Retinal arteriolar tortuosity, Renal insufficiency, Hematuria, Renal cyst, Retinal hemorrhage	OMIM:611773
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia...	OMIM:618049
Hijazi-Reis Syndrome	Postnatal growth retardation, Astigmatism, Ankle clonus, Motor stereotypy, Lower limb spasticity,...	OMIM:301094
Galactose Epimerase Deficiency	Cataract, Weight loss, Growth delay	ORPHA:79238
Autosomal Recessive Spastic Paraplegia Type 46	Cataract, Broad-based gait, Difficulty walking, Head tremor, Babinski sign, Abnormal pyramidal si...	ORPHA:320391
Autosomal Recessive Spastic Paraplegia Type 11	Cerebral cortical atrophy, Distal amyotrophy, Lower limb muscle weakness, Generalized limb muscle...	ORPHA:2822
Cystinosis	Nephropathy, Aminoaciduria, Polydipsia, Renal insufficiency, Retinopathy, Renal tubular dysfuncti...	ORPHA:213
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Hypoplastic hippocampus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	ORPHA:85179
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopaminergic med...	OMIM:616710
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:617113
Autosomal Recessive Spastic Paraplegia Type 26	Cataract, Pseudobulbar paralysis, Babinski sign, Lower limb spasticity, Gait disturbance, Dystoni...	ORPHA:101006
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia	OMIM:618587
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hyperesthesia, Self-injurious behavior, Intrauterine growth retardation, Severe failure to thrive...	ORPHA:371364
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor	OMIM:614307
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Spasticity, Dysmetria, Distal sensory impairment, Subcapsular cataract, Babinski sign, ...	OMIM:612674
Behr Syndrome	Dysmetria, Tremor, Babinski sign, Gait disturbance, Dysphagia, Ataxia, Truncal ataxia, Unsteady g...	OMIM:210000
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Highly arched eyebrow, Generalized hirsutism, Polyphagia, Motor stereoty...	ORPHA:228402
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Severe short stature, Cataract, Failure to thrive	ORPHA:2278
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Polydipsia, Renal insufficiency, Hypertensive retinopathy, Abnormal urine sodiu...	ORPHA:320
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Delayed pubert...	OMIM:607694
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Failure to thrive, Inability to walk, Astigmatism, Tremor, Attention deficit hyperactivity disord...	OMIM:619556
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Dysmetria, Ataxia, Compulsive behaviors, Unsteady gait, Titubation	OMIM:619405
Posttransplant Acute Limbic Encephalitis	Memory impairment, Depression, Confusion, Abnormal hippocampus morphology, Cognitive impairment	ORPHA:163921
Developmental And Epileptic Encephalopathy 60	Hippocampal malrotation	OMIM:617929
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,...	OMIM:263200
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti...	OMIM:619827
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Mild postnatal growth retardation, Hyperactivity, Ataxia, Upper motor n...	ORPHA:530983
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Spasticity, Childhood-onset truncal obesity, Truncal obesity	OMIM:610156
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ...	ORPHA:101
Pulmonary Blastoma	Weight loss	ORPHA:64741
Band Heterotopia	Hydrocephalus, Hypoplastic hippocampus, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:600348
Supranuclear Palsy, Progressive, 1	Cerebral atrophy, Astrocytosis, Retrocollis, Tremor, Rigidity, Parkinsonism, Gliosis, Neuronal lo...	OMIM:601104
Bardet-Biedl Syndrome 6	Renal cyst, Pigmentary retinopathy, Hypospadias, Rod-cone dystrophy	OMIM:605231
X-Linked Charcot-Marie-Tooth Disease Type 2	Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Ha...	ORPHA:101076
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Involuntary movements, Failure to thrive, Difficulty walking, Abnormality of coordina...	ORPHA:442835
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Distal amyotrophy, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weaknes...	ORPHA:313772
Martsolf Syndrome 2	Cataract, Decreased body weight, Developmental cataract, Short stature, Spastic diplegia	OMIM:619420
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Macular degeneration, Renal hypoplasia, Opt...	OMIM:120330
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Spasticity, Unsteady gait	OMIM:620312
Dystonia 16	Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li...	OMIM:612067
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Tremor, Premature graying of hair	ORPHA:66633
Classic Phenylketonuria	Self-injurious behavior, Cataract, Hemiplegia, Paraplegia, Tremor, Attention deficit hyperactivit...	ORPHA:79254
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus...	OMIM:183090
Spinocerebellar Ataxia 50	Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia	OMIM:620158
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Obesity, Tremor, Aggressive behavior, Abnormal hair pattern, Cachexia, Hyperact...	ORPHA:85293
Spinocerebellar Ataxia, Autosomal Recessive 31	Bruxism, Tremor, Self-mutilation, Dysphagia, Ataxia, Dystonia, Growth delay, Choreoathetosis	OMIM:619422
Glycine Encephalopathy 1	Aggressive behavior, Restlessness, Hyperactivity, Impulsivity	OMIM:605899
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Idiopathic Achalasia	Weight loss, Dysphagia	ORPHA:930
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,...	ORPHA:84081
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Polycythemia, Astrocytosis, Action tremor, Splenomegaly, Rigidity, Hypertoni...	ORPHA:309854
Tuberous Sclerosis Complex	Chorioretinal hypopigmentation, Chronic kidney disease, Self-injurious behavior, Depression, Reti...	ORPHA:805
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmet...	OMIM:300623
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors	OMIM:301107
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, Dysmetria, Babinski ...	ORPHA:93952
Cochleosaccular Degeneration-Cataract Syndrome	Cataract, Ataxia	ORPHA:3233
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, ...	ORPHA:1170
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Apraxia, Attention deficit hyp...	OMIM:620141
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Arthrogryposis multiplex congenita, Hypoplasia of the mus...	OMIM:253310
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts	OMIM:173900
Epilepsy, Familial Adult Myoclonic, 4	Myoclonus, Tremor	OMIM:615127
Femoral-Facial Syndrome	Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1988
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Neuromuscular dysphagia, Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response ...	ORPHA:240085
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Tremor	OMIM:613608
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia, Gro...	ORPHA:70594
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ...	OMIM:613095
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Developmental And Epileptic Encephalopathy 6B	Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Motor stereotypy,...	OMIM:619317
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Broad-based gait, Obesity, Gait imbalance, Myoclonus, Abnormal eating beha...	ORPHA:98794
Leukodystrophy, Hypomyelinating, 2	Optic atrophy, Progressive spasticity, Spastic paraparesis, Decreased motor nerve conduction velo...	OMIM:608804
Intestinal Dysmotility Syndrome	Cataract, Weight loss, Failure to thrive	OMIM:620045
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Progressive cerebellar ataxia, Difficulty walking, Impaired vibration sensation in the lower limb...	ORPHA:137898
Leukodystrophy, Hypomyelinating, 6	Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Short stature, Dystonia, Choreoathetosis	OMIM:612438
Early-Onset Autosomal Dominant Alzheimer Disease	Myoclonus, Disinhibition, Parkinsonism, Oculomotor apraxia, Apraxia, Hypertonia, Ataxia, Abnormal...	ORPHA:1020
Spinocerebellar Ataxia 21	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnormality of extrapyram...	OMIM:607454
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hypertonia, Ataxia, Motor stereotypy	OMIM:619092
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Tremor, Distal sensory impai...	ORPHA:90117
Erythrokeratodermia Variabilis	Cataract, Alopecia, Abnormal hair morphology, Generalized hirsutism, Weight loss, Corneal opacity...	ORPHA:317
Tetrasomy 12P	Short stature, Sparse eyebrow, Sparse hair, Cachexia	ORPHA:884
Intellectual Developmental Disorder, Autosomal Dominant 67	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity	OMIM:619927
Late-Infantile/Juvenile Krabbe Disease	Spastic paraparesis, Acroparesthesia, Neuromuscular dysphagia, Difficulty walking, Hemiplegia, Sp...	ORPHA:206443
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia	ORPHA:139485
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Opisthotonus, Attention defici...	ORPHA:216866
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Ataxia	ORPHA:42
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Pigmentary retinopathy, Polycystic kidney dysplasia, Optic nerve dysplasia	OMIM:214110
Arachnoid Cyst	Lower limb muscle weakness, Tetraparesis, Cranial nerve compression, Spinal arachnoid cyst, Hemip...	ORPHA:2356
Autosomal Recessive Spastic Paraplegia Type 5A	Spastic paraplegia, Impaired vibratory sensation, Cataract, Limb ataxia, Ankle clonus, Babinski s...	ORPHA:100986
Flynn-Aird Syndrome	Cataract, Alopecia, Alopecia of scalp, Ataxia	OMIM:136300
Congenital Disorder Of Glycosylation, Type Iibb	Spasticity, Failure to thrive, Tetraparesis, Antalgic gait, Tremor, Aggressive behavior	OMIM:620546
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ambulation, Oculomot...	OMIM:208920
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Paresthesia, Weight loss, Dysphagia	ORPHA:298
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ...	ORPHA:352649
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Myoclonus, Tremor	OMIM:615400
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Failure to thrive, Generalized dystonia, Inability to walk,...	OMIM:312080
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Diffuse cerebra...	ORPHA:363654
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis, Rod-cone dystrophy	ORPHA:140976
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Polyuria, Megacystis, Irritability	OMIM:125800
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sign	ORPHA:477673
Woolly Hair	Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr...	ORPHA:170
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Polyuria, Megacystis, Irritability	OMIM:304800
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia	OMIM:617810
Perry Syndrome	Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome	Mental deterioration, Deficit in phonologic short-term memory	ORPHA:240112
Igg4-Related Pachymeningitis	Abnormality of cervical plexus, Lower limb muscle weakness, Abnormality of the brachial nerve ple...	ORPHA:449427
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism, Ataxia	ORPHA:231183
Neuropathy, Congenital Hypomyelinating, 3	Dystonia, Babinski sign, Spasticity, Cachexia	OMIM:618186
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Absent muscle fiber merosin, Muscle fiber atrophy, Astrocytosis, Pontocerebel...	ORPHA:258
Spinocerebellar Ataxia With Epilepsy	Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a...	ORPHA:254881
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract, Involuntary movements, Myoclonus, Dysmetria, Abnormal pyramidal sign, Dysphagia	OMIM:619780
Dystonia-Deafness Syndrome 1	Cataract, Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Loss of ...	OMIM:607371
Aredyld Syndrome	Sparse body hair, Intrauterine growth retardation, Cachexia, Aplasia/Hypoplasia of the eyebrow, S...	ORPHA:1133
Holocarboxylase Synthetase Deficiency	Alopecia, Anorexia, Keratoconjunctivitis, Weight loss, Ataxia, Growth delay	ORPHA:79242
Infantile Krabbe Disease	Hyperesthesia, Spasticity, Failure to thrive, Myoclonus, Ankle clonus, Opisthotonus, Cachexia, Lo...	ORPHA:206436
Autism Spectrum Disorder Due To Auts2 Deficiency	Highly arched eyebrow, Spasticity, Cerebral palsy, Attention deficit hyperactivity disorder, Repe...	ORPHA:352490
Infantile Nephropathic Cystinosis	Aminoaciduria, Pigmentary retinopathy, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, ...	ORPHA:411629
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,...	OMIM:618877
3-Methylglutaconic Aciduria Type 3	Spastic paraparesis, Choreoathetosis, Ataxia	ORPHA:67047
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Tongue fasciculations, Cataract, Hand tremor, Distal sensory impairment, Impaired distal tactile ...	OMIM:162400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic paraplegia, Spasticity, Spastic paraparesis, Cerebral cortical atrophy, Decreased nerve c...	OMIM:238970
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progressive cerebellar at...	OMIM:608768
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Lateral ventricle dilatation, Reduced amygdala volume, Hypoplastic hippocampus, Partial agenesis ...	OMIM:619517
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Baralle-Macken Syndrome	Cataract, Spasticity, Inability to walk, Obesity, Hirsutism, Dystonia	OMIM:619255
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Spastic paraparesis, Interosseus muscle atrophy, Distal lower limb amyotrophy, Distal lower limb ...	OMIM:500013
Combined Oxidative Phosphorylation Deficiency 13	Cataract, Dystonia, Growth delay, Choreoathetosis	OMIM:614932
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Undifferentiated Pleomorphic Sarcoma	Weight loss, Anorexia	ORPHA:2023
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Mevalonic Aciduria	Short stature, Cataract, Ataxia	ORPHA:29
Intellectual Developmental Disorder, Autosomal Dominant 45	Cerebral palsy, Slender build, Chorea, Myoclonus, Recurrent hand flapping, Attention deficit hype...	OMIM:617600
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy	OMIM:618906
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Neuromuscular dysphagia, Falls, Progressive extrapyramidal muscular rigidity, Akin...	ORPHA:240071
Tonne-Kalscheuer Syndrome	Self-injurious behavior, Spasticity, Broad-based gait, Fine hair, Tremor, Aggressive behavior, Bl...	OMIM:300978
Joubert Syndrome 39	Polycystic kidney dysplasia, Retinal dystrophy	OMIM:619562
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Dysphagia,...	OMIM:614381
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv...	ORPHA:98773
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Spasticity, Spastic paraparesis, Intrauterine growth retardation, Proportio...	ORPHA:3208
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Limb dystonia,...	ORPHA:363400
Ataxia-Telangiectasia	Spasticity, Failure to thrive, Premature graying of hair, Tremor, Gait disturbance, Delayed puber...	ORPHA:100
Chronic Hiccup	Weight loss, Abnormal eating behavior	ORPHA:396
Senior-Loken Syndrome	Short stature, Cataract, Ataxia	ORPHA:3156
Maternal Uniparental Disomy Of Chromosome 1	Cataract, Failure to thrive, Ataxia, Short stature, Progressive spasticity, Growth delay	ORPHA:251009
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Spasticity, Spastic paraparesis, Skeletal muscle atrophy, Upper limb muscle weakne...	ORPHA:320375
Xq28 (MECP2) duplication	Failure to thrive, Inability to walk, Gait ataxia, Motor stereotypy, Progressive spasticity, Dysp...	DECIPHER:45
Farber Disease	Spasticity, Skeletal muscle atrophy, Short toe, Short finger, Hepatosplenomegaly, Myoclonus, Para...	ORPHA:333
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Microphthalmia/Coloboma 12	Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Vesicoureteral reflux, Remnants...	OMIM:120200
Ataxia With Vitamin E Deficiency	Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,...	ORPHA:96
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Overweight, Motor stereotypy	OMIM:620065
Odontochondrodysplasia 1	Nephronophthisis, Polycystic kidney dysplasia	OMIM:184260
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Tremor, Rigidity, P...	OMIM:300894
Laurence-Moon Syndrome	Cataract, Obesity, Ataxia, Short stature, Iris coloboma	ORPHA:2377
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Dysphagia, Distal sensory impairment	OMIM:607734
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal hair morphology, Cachexia, Weight loss, Premature graying of hair	ORPHA:1979
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Paraplegia, Pancytopenia, Hemiparesis...	ORPHA:79124
Jaberi-Elahi Syndrome	Cataract, Sparse eyebrow, Broad-based gait, Failure to thrive, Fine hair, Inability to walk, Gait...	OMIM:617988
Glut1 Deficiency Syndrome 2	Dystonia, Choreoathetosis, Tremor, Ataxia	OMIM:612126
Saccharopinuria	Gait ataxia, Distal sensory impairment, Tremor, Short stature, Spastic diplegia	ORPHA:3124
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Dysmetria, Conjunctival hyperemia, Babinski sign, Scissor gait, Motor ster...	OMIM:619121
Whipple Disease	Ataxia, Polydipsia, Myoclonus, Cachexia, Abnormal pyramidal sign, Anorexia	ORPHA:3452
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy...	OMIM:231680
Trisomy 17P	Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis	ORPHA:261290
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Proportionate short stature, Attention deficit hyperactivity disorder, D...	OMIM:617044
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Cachexia	ORPHA:1438
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia	OMIM:263210
Pitt-Hopkins-Like Syndrome 1	Spasticity, Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity diso...	OMIM:610042
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Lateral ventricle dilatation, Oral-pharyngeal dysphagia, Abnormal hippoc...	ORPHA:208447
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Acquired Central Diabetes Insipidus	Polydipsia, Pollakisuria	ORPHA:95626
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia	OMIM:224500
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Neuromuscular dysphagia, Resting tremor, Postural tremor, Limb ataxia, Gait ata...	ORPHA:227510
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia	OMIM:603472
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Cerebral cortical neurodegeneration, Astrocyt...	OMIM:203700
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Gait disturbance	ORPHA:2774
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Highly arched eyebrow, Sparse eyebrow, Inability to walk, Bruxism, Long ...	OMIM:618004
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe...	ORPHA:1067
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Highly arched eyebrow, Bruxism, Tremor, Decreased body weight, Aggressive behavior, Attention def...	OMIM:618342
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico...	OMIM:113650
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Neurodegeneration, Tremor, Abno...	OMIM:614298
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Oral-pharyngeal dysphagia, Postnatal growth retardation, Long eyelashes, Thick eyebrow, Obesity, ...	ORPHA:480907
Laryngeal Neuroendocrine Tumor	Weight loss, Oral-pharyngeal dysphagia, Anorexia	ORPHA:100083
Cockayne Syndrome	Lentiglobus, Spasticity, Dry hair, Difficulty walking, Postnatal growth retardation, Action tremo...	ORPHA:191
Classic Galactosemia	Cataract, Incoordination, Speech apraxia, Postural tremor, Gait imbalance, Action tremor, Clumsin...	ORPHA:79239
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia	OMIM:608776
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Short stature, Overweight, Mot...	ORPHA:457240
Leukodystrophy, Hypomyelinating, 3	Spastic paraparesis, Global brain atrophy, Appendicular spasticity, Abnormal pyramidal sign, Corp...	OMIM:260600
Hemiparkinsonism-Hemiatrophy Syndrome	Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia	ORPHA:306669
Autism, Susceptibility To, 3	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608049
Pick Disease Of Brain	Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition	OMIM:172700
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Obsessive-compulsive trait, Tremor, Ataxia, Bradykinesia, Poor fine motor coordin...	ORPHA:36387
11Q22.2Q22.3 Microdeletion Syndrome	Obesity, Thick eyebrow, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal ...	ORPHA:444002
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Dysphagia, Lacticaciduria, Polycystic kidney dyspla...	ORPHA:26791
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Rod-cone d...	ORPHA:2237
Oculopharyngodistal Myopathy	Vocal cord paresis, Oral-pharyngeal dysphagia, Difficulty walking, Paraplegia, Loss of ambulation...	ORPHA:98897
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Polydipsia, Renal insuffic...	ORPHA:223
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Cataract, Difficulty walking, Chorea, Truncal ataxia, Waddling gait	ORPHA:369840
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300495
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Prune1-Related Neurological Syndrome	Optic atrophy, Tongue fasciculations, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, ...	ORPHA:544469
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ...	OMIM:612953
Intellectual Developmental Disorder, Autosomal Recessive 39	Aggressive behavior, Hyperactivity, Short stature, Motor stereotypy, Synophrys	OMIM:615541
Phelan-Mcdermid Syndrome	Bruxism, Vesicoureteral reflux, Aggressive behavior, Tongue thrusting, Abnormality of the kidney,...	OMIM:606232
Paget Disease Of Bone 2, Early-Onset	Tetraparesis, Femoral bowing, Osteosclerosis of the ulna, Bowing of the long bones, Paraparesis, ...	OMIM:602080
Aicardi-Goutieres Syndrome 6	Intrauterine growth retardation, Tremor, Rigidity, Loss of ambulation, Dystonia	OMIM:615010
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ...	ORPHA:314588
Female Restricted Epilepsy With Intellectual Disability	Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity	ORPHA:101039
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Intrauterine growth retardation, Tremor, Short stature, Growth delay	OMIM:617744
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic atrophy, Pigmentary retinopathy, Optic nerve dysplasia, Renal cyst, Rod-cone dystrophy, Pol...	OMIM:614866
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or...	ORPHA:420485
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Self-injurious behavior, Failure to thrive, Curly hair, Recurrent hand flapping, Aggressive behav...	OMIM:300986
Hypermanganesemia With Dystonia 2	Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c...	OMIM:617013
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Intrauterine growth retardation, Tremor, Dysmetria, Aggressive behavior, Limb hypertonia, Hyperto...	OMIM:617710
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst	OMIM:614091
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia	ORPHA:542310
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Macular edema, Depression, Memory impairment, Irritability, Proteinuria, Abnormal re...	ORPHA:247691
East Syndrome	Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Renal sodium was...	ORPHA:199343
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency	ORPHA:1909
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park...	OMIM:619911
Familial Congenital Mirror Movements	Dysgenesis of the hippocampus, Agenesis of corpus callosum	ORPHA:238722
Glutathionuria	Dysdiadochokinesis, Action tremor, Tremor	OMIM:231950
Developmental And Epileptic Encephalopathy 46	Dysphagia, Limb hypertonia, Failure to thrive, Tremor	OMIM:617162
Bilateral Perisylvian Polymicrogyria	Spasticity, Oromotor apraxia, Pseudobulbar paralysis, Facial diplegia, Dysmetria, Weakness of fac...	ORPHA:98889
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal insufficiency, Hydronephrosis, Long-chain dicarboxylic aciduria, Ureteral duplication, Poly...	OMIM:608836
Microcephaly 10, Primary, Autosomal Recessive	Cataract, Spasticity, Intrauterine growth retardation, Hypertonia, Small for gestational age	OMIM:615095
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Babinski sign, Steppage gai...	OMIM:616505
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem...	OMIM:619574
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Intrauterine growth retardation, Positive Romberg sign, Myoclonus, Dysmetria, Intention tremor, B...	OMIM:301310
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis	ORPHA:3033
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Spasticity, Cachexia, Ataxia	ORPHA:220295
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis...	ORPHA:157
Angelman Syndrome	Iris hypopigmentation, Keratoconus, Broad-based gait, Self-injurious behavior, Fair hair, Inabili...	ORPHA:72
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Decreased body mass index, Failure to thrive, Abnormality of the hairline, Tremor...	ORPHA:370079
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Speech apraxia, Thick eyebrow, Motor stereotypy, Postnatal growth retardation	ORPHA:529965
Myopathy, Mitochondrial, And Ataxia	Difficulty walking, Inability to walk, Limb ataxia, Distal sensory impairment, Dysmetria, Tremor,...	OMIM:617675
Wolman Disease	Cachexia, Growth delay	ORPHA:75233
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Retinal dystrophy, Nephronophthisis	OMIM:611560
Pyruvate Dehydrogenase Deficiency	Spasticity, Cerebral palsy, Intrauterine growth retardation, Tremor, Abnormal pyramidal sign, Gai...	ORPHA:765
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Septo-optic dysplasia, Polydipsia, Optic nerve hypoplasia	ORPHA:3157
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Conjunctival telangiectasia, Progressive g...	OMIM:606002
Wagr Syndrome	Cataract, Obesity, Aplasia/Hypoplasia of the iris, Short stature, Dysfunction of lateral corticos...	ORPHA:893
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Peroxisome Biogenesis Disorder 5B	Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait	OMIM:614867
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Failure to thrive, Postnatal growth retardation, Aggressive behavior, Attention deficit hyperacti...	OMIM:620242
Xfe Progeroid Syndrome	Severe short stature, Failure to thrive, Corneal scarring, Cachexia, Poor coordination	OMIM:610965
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba...	ORPHA:247234
Sialidosis Type 2	Short stature, Corneal opacity, Tremor, Ataxia	ORPHA:87876
Silver-Russell Syndrome	Failure to thrive in infancy, Postnatal growth retardation, Intrauterine growth retardation, Obes...	ORPHA:813
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:617182
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Gait ataxia, Recurrent hand flapping, Opisthotonus, Attention deficit hyperact...	OMIM:619580
Galloway-Mowat Syndrome 6	Growth delay, Intrauterine growth retardation, Decreased body weight, Paroxysmal bursts of laught...	OMIM:618347
Monilethrix	Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai...	ORPHA:573
Myopathy With Extrapyramidal Signs	Growth delay, Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, C...	OMIM:615673
Progressive Supranuclear Palsy	Blepharospasm, Cerebral cortical atrophy, Tremor, Rigidity, Gliosis, Neuronal loss in central ner...	ORPHA:683
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Hypertonia, Tortic...	OMIM:128100
Wolfram Syndrome	Nephropathy, Optic atrophy, Abnormality of the urinary system, Polydipsia, Recurrent urinary trac...	ORPHA:3463
Cystinosis, Nephropathic	Aminoaciduria, Generalized aminoaciduria, Pigmentary retinopathy, Polydipsia, Retinal pigment epi...	OMIM:219800
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Dysphagia, Choreoathetosis	OMIM:233910
Acute Transverse Myelitis	Spasticity, Upper limb muscle weakness, Autonomic bladder dysfunction, Paraplegia, Abscess, Abnor...	ORPHA:139417
Xeroderma Pigmentosum, Complementation Group F	Astigmatism, Tremor, Decreased body weight, Ataxia, Short stature	OMIM:278760
Combined Oxidative Phosphorylation Defect Type 27	Hypoplastic hippocampus, Dysphagia	ORPHA:477774
Chromosome 2Q37 Deletion Syndrome	Pain insensitivity, Highly arched eyebrow, Self-injurious behavior, Obesity, Stereotypical hand w...	OMIM:600430
Neurofibromatosis, Familial Spinal	Paraparesis, Lower limb muscle weakness	OMIM:162210
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polycystic kidney dysplasia, Retinal coloboma	OMIM:616546
Intellectual Developmental Disorder, Autosomal Dominant 65	Dysgenesis of the hippocampus, Agenesis of corpus callosum, Aggressive behavior, Attention defici...	OMIM:619320
Rett Syndrome	Failure to thrive, Difficulty walking, Inability to walk, Bruxism, Stereotypical hand wringing, D...	ORPHA:778
Pilarowski-Bjornsson Syndrome	Postnatal growth retardation, Long eyelashes, Speech apraxia, Broad eyebrow, Motor stereotypy	OMIM:617682
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Astrocytosis, Brain atrophy, Splenomegaly, Abnormality of peripheral ner...	ORPHA:90324
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Inability to walk, Bruxism, Chorea, Rigidity, Decreased body weight, Motor st...	OMIM:300260
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel...	ORPHA:228308
Intellectual Developmental Disorder, X-Linked 12	Spasticity, Tremor, Hyperkinetic movements, Gait disturbance, Truncal obesity, Increased body mas...	OMIM:300957
Cerebral Creatine Deficiency Syndrome 1	Spasticity, Broad-based gait, Poor hand-eye coordination, Failure to thrive, Speech apraxia, Redu...	OMIM:300352
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis,...	OMIM:618161
Myoclonic-Astatic Epilepsy	Frontal balding, Tremor, Reduced social reciprocity, Attention deficit hyperactivity disorder, Ab...	ORPHA:1942
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia, Impulsivity, Parkinsonism, Parkinso...	ORPHA:411602
Classic Hodgkin Lymphoma	Anorexia, Weight loss, Ataxia	ORPHA:391
Pediatric-Onset Graves Disease	Polydipsia, Emotional lability, Irritability, Polyphagia, Hyperactivity	ORPHA:525731
Intellectual Developmental Disorder, X-Linked 98	Failure to thrive, Bulimia, Postnatal growth retardation, Stereotypical body rocking, Bruxism, Re...	OMIM:300912
Juvenile Sialidosis Type 2	Cataract, Spasticity, Myoclonus, Dysmetria, Loss of ambulation, Lower limb spasticity, Corneal op...	ORPHA:93399
Shukla-Vernon Syndrome	Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Sparse hair, Mot...	OMIM:301029
Trisomy X	Multicystic kidney dysplasia, Depression, Renal hypoplasia/aplasia, Attention deficit hyperactivi...	ORPHA:3375
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cataract, Difficulty walking, Chorea, Hyperkinetic movements, Truncal ataxia	ORPHA:369847
Infantile Refsum Disease	Cataract, Spasticity, Failure to thrive, Ataxia, Short stature	ORPHA:772
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros...	OMIM:619902
Mohr-Tranebjaerg Syndrome	Shuffling gait, Generalized dystonia, Inability to walk, Tremor, Ankle clonus, Babinski sign, Apr...	ORPHA:52368
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Obesity, Motor stereotypy	OMIM:613886
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Horseshoe kidney, ...	ORPHA:93111
Aromatic L-Amino Acid Decarboxylase Deficiency	Oculogyric crisis, Failure to thrive, Tremor, Babinski sign, Limb hypertonia, Short stature, Dyst...	ORPHA:35708
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Spasticity, Upper limb muscle weaknes...	ORPHA:206448
Intellectual Developmental Disorder, Autosomal Recessive 38	Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation	OMIM:615516
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign, Distal sensory impairment...	ORPHA:206594
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia	ORPHA:529665
Norrie Disease	Self-injurious behavior, Cataract, Ectopia lentis, Failure to thrive, Hypoplasia of the iris, Abn...	ORPHA:649
Oculodentodigital Dysplasia	Spasticity, Clinodactyly, Tetraparesis, 3-4 toe syndactyly, Joint contracture of the 5th finger, ...	OMIM:164200
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Low-molecular-weight proteinur...	ORPHA:18
Fatal Familial Insomnia	Weight loss, Myoclonus, Dysphagia, Ataxia	OMIM:600072
Sialidosis Type 1	Cataract, Myoclonus, Tremor, Gait disturbance, Corneal opacity, Ataxia, Short stature, Slurred sp...	ORPHA:812
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polydipsia, Polyuria	OMIM:613677
Bardet-Biedl Syndrome 12	Hydroureter, Hydronephrosis, Cognitive impairment, Rod-cone dystrophy, Cystic renal dysplasia	OMIM:615989
Microphthalmia, Syndromic 11	Hippocampal malrotation, Agenesis of corpus callosum	OMIM:614402
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Metachromatic Leukodystrophy, Late Infantile Form	Spasticity, Tip-toe gait, Gait ataxia, Dystonia, Clumsiness, Babinski sign, Progressive gait atax...	ORPHA:309256
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Cataract, Broad-based gait, Positive Romberg sign, Myoclonus, Dysmetria, Gait ataxia, Impaired di...	OMIM:607459
Smith-Magenis Syndrome	Pain insensitivity, Head-banging, Impaired pain sensation, Onychotillomania, Self-mutilation, Inc...	OMIM:182290
Cri-Du-Chat Syndrome	Cataract, Premature graying of hair, Difficulty walking, Oppositional defiant disorder, Overfrien...	OMIM:123450
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu...	OMIM:603860
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Posterior Column Ataxia With Retinitis Pigmentosa	Cataract, Broad-based gait, Impaired vibration sensation in the lower limbs, Positive Romberg sig...	OMIM:609033
Renal-Hepatic-Pancreatic Dysplasia 1	Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Ureteral atresia, Pancreatic ...	OMIM:208540
Primary Myelofibrosis	Cachexia, Anorexia	ORPHA:824
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Cataract, Impaired vibration sensation in the lower limbs, Positive Romberg s...	ORPHA:88628
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Fine hair, Head tremor, Motor stereotypy, Ataxia, Growth delay, Synophrys	OMIM:619428
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon...	ORPHA:99027
Schwartz-Jampel Syndrome	Blepharospasm, Cataract, Microcornea, Ectopia lentis, Abnormal eyebrow morphology, Long eyelashes...	ORPHA:800
Foix-Alajouanine Syndrome	Cervical myelopathy, Myelitis, Myelopathy, Lower limb muscle weakness, Progressive spastic parapa...	ORPHA:79093
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation	ORPHA:100924
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Absent hippocampal commissure, Agenesis of corpus callosum	OMIM:617542
4Q21 Microdeletion Syndrome	Self-injurious behavior, Intrauterine growth retardation, Long eyelashes, Tremor, Generalized hir...	ORPHA:238750
Trisomy 18	Cataract, Microcornea, Growth delay, Intrauterine growth retardation, Cachexia, Hypertonia, Short...	ORPHA:3380
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Cataract, Motor stereotypy, Hypertonia	OMIM:619877
Japanese Encephalitis	Skeletal muscle atrophy, Pill-rolling tremor, Decreased motor nerve conduction velocity, Elbow fl...	ORPHA:79139
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus	OMIM:618060
Gm1 Gangliosidosis	Ataxia, Spasticity, Failure to thrive, Generalized dystonia, Tremor, Hirsutism, Generalized hirsu...	ORPHA:354
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Distal sensory impairment, Cachexia, Weight loss, Hypoesthesia, Dysphagia	OMIM:603041
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Tremor, Rigidity, Dystonia, ...	OMIM:615530
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss, Anorexia	ORPHA:86893
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Growth delay, Tremor, Aggressive behavior, Oculomotor apraxia, Hyp...	OMIM:612716
Floating-Harbor Syndrome	Abnormal temper tantrums, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage...	ORPHA:2044
Spontaneous Periodic Hypothermia	Gait disturbance, Tremor, Ataxia	ORPHA:29822
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Late Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Inability to walk, Myoclonus, Astigmatism, Obsessive-compulsive trait, Aggressive beh...	ORPHA:168491
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Reduced renal cort...	ORPHA:731
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cataract, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Intrauterine growth reta...	OMIM:615356
Cerebrooculofacioskeletal Syndrome 2	Cataract, Intrauterine growth retardation, Developmental cataract, Sparse hair, Growth delay, Sma...	OMIM:610756
Verheij Syndrome	Renal hypoplasia, Renal agenesis, Renal cyst, Coloboma, Optic nerve hypoplasia	OMIM:615583
Choreoacanthocytosis	Resting tremor, Limb dystonia, Hair-pulling, Loss of ambulation, Parkinsonism, Weight loss, Lingu...	ORPHA:2388
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Somatic sensory dysfunction, Resting tremor, Cerulean c...	ORPHA:67036
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro...	ORPHA:47159
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Cerebral palsy, Spastic ataxia, Paraparesis, Anemia, Spastic tetraparesis	OMIM:620358
Mitochondrial Membrane Protein-Associated Neurodegeneration	Optic atrophy, Spasticity, Spastic paraparesis, Hand tremor, Rigidity, Babinski sign, Parkinsonis...	ORPHA:289560
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormality of the spleen	ORPHA:93941
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Polydipsia, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal...	OMIM:602522
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Fryns-Smeets-Thiry Syndrome	Short stature, Cachexia	ORPHA:2058
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:617866
Clouston Syndrome	Cataract, Alopecia, Sparse eyebrow, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, Sp...	OMIM:129500
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Polydipsia, Renal sodium wasting, Salt craving, Polyuria, Renal salt was...	OMIM:612780
Dravet Syndrome	Dysgenesis of the hippocampus, Short attention span, Obsessive-compulsive trait, Cognitive impair...	ORPHA:33069
3-Methylglutaconic Aciduria, Type Viib	Cataract, Spasticity, Rhizomelia, Intrauterine growth retardation, Myoclonus, Tremor, Hyperkineti...	OMIM:616271
Marbach-Schaaf Neurodevelopmental Syndrome	Hemidystonia, Speech apraxia, Obesity, Recurrent hand flapping, Astigmatism, Tremor, Aggressive b...	OMIM:619680
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Spasticity, Obesity, Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Poor coord...	OMIM:618430
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Tremor, Dysmetria	OMIM:615578
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Periodic paralysis, Tremor	OMIM:613239
Familial Hyperaldosteronism Type Iii	Hypercalciuria, Polydipsia	ORPHA:251274
Majeed Syndrome	Cachexia, Weight loss, Failure to thrive	ORPHA:77297
Helix Syndrome	Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Polyuria	OMIM:617671
Metachromatic Leukodystrophy, Juvenile Form	Spasticity, Dystonia, Clumsiness, Babinski sign, Progressive gait ataxia, Decerebrate rigidity, F...	ORPHA:309263
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Dysphagia, Tremor, Fasciculations	OMIM:313200
Wilson Disease	Failure to thrive, Kayser-Fleischer ring, Difficulty walking, Increased body weight, Clumsiness, ...	ORPHA:905
Rett Syndrome, Congenital Variant	Spasticity, Bruxism, Chorea, Reduced social reciprocity, Apraxia, Tongue thrusting, Dystonia, Ath...	OMIM:613454
Lissencephaly Due To Tuba1A Mutation	Dysgenesis of the hippocampus, Agenesis of corpus callosum, Dysplastic corpus callosum, Hypoplast...	ORPHA:171680
Joubert Syndrome 1	Nephropathy, Optic disc coloboma, Chorioretinal coloboma, Self-mutilation, Renal cyst, Aggressive...	OMIM:213300
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia	ORPHA:3217
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Ataxia	OMIM:607876
Trisomy 13	Optic atrophy, Abnormality of the ureter, Displacement of the urethral meatus, Hydronephrosis, Ab...	ORPHA:3378
Fatty Acid Hydroxylase-Associated Neurodegeneration	Optic atrophy, Cerebellar atrophy, Progressive spastic paraplegia, Progressive spastic paraparesi...	ORPHA:329308
Epidermal Nevus Syndrome	Progressive spastic paraparesis, Babinski sign, Atrophy of the spinal cord, Spinal cord compressi...	ORPHA:35125
Young-Onset Parkinson Disease	Spasticity, Gait imbalance, Restless legs, Tremor, Rigidity, Dystonia, Impulsivity, Reduced socia...	ORPHA:2828
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spastic paraplegia, Broad-based gait, Abnormal temper tantrums, Limb ataxia, Paralysis, Cachexia,...	ORPHA:2072
Developmental And Epileptic Encephalopathy 82	Spastic paraparesis, Spastic tetraplegia, Cerebral atrophy	OMIM:618721
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss, Dysphagia	ORPHA:2198
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Speech apraxia, Obesity, Reduced social reciprocity, Motor stereotypy, Attenti...	ORPHA:261197
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve...	OMIM:301111
Optic Atrophy-Intellectual Disability Syndrome	Compulsive behaviors, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, A...	ORPHA:401777
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait	ORPHA:209335
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia	OMIM:602481
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Highly arched eyebrow, Obsessive-compulsive trait, Aggressive behavior, Atten...	OMIM:618825
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Spasticity, Broad-based gait, Difficulty walking, Gait ataxia, Dystonia, Motor stereotypy	OMIM:617807
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star...	OMIM:618056
Radio-Tartaglia Syndrome	Highly arched eyebrow, High anterior hairline, Long eyelashes, Thick eyebrow, Gait imbalance, Obe...	OMIM:619312
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Nephrolithiasis	ORPHA:369929
Purine Nucleoside Phosphorylase Deficiency	Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal central motor function, Lymphopenia, Ab...	ORPHA:760
Short Syndrome	Severe short stature, Alopecia, Megalocornea, Hypoplasia of the iris, Abnormal pupil morphology, ...	ORPHA:3163
Autosomal Dominant Spastic Paraplegia Type 9A	Falls, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Abnormal pyramidal...	ORPHA:447753
Rift Valley Fever	Hemiparesis, Paralysis, Paraparesis, Thrombocytopenia, Anemia, Decerebrate rigidity	ORPHA:319251
Familial Hyperaldosteronism Type I	Polydipsia	ORPHA:403
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Ritscher-Schinzel Syndrome 4	Chorea, Curly hair, Aggressive behavior, Dysphagia, Ataxia, Short stature, Athetosis, Motor stere...	OMIM:619435
Seckel Syndrome	Short stature, Intrauterine growth retardation, Cachexia, Sparse scalp hair	ORPHA:808
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa...	OMIM:613280
Joubert Syndrome 14	Optic atrophy, Irritability, Renal cyst, Coloboma, Morning glory anomaly	OMIM:614424
Metachromatic Leukodystrophy, Adult Form	Spasticity, Difficulty walking, Chorea, Dystonia, Progressive spastic quadriplegia, Babinski sign...	ORPHA:309271
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Cataract, Resting tremor, Hand tremor, Gait ataxia, Rigidity, Parkinsonism, Parkinsonism with fav...	OMIM:157640
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Failure to thrive, Paraplegia, Ataxia, Motor stereotypy, Agitation	ORPHA:927
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the...	ORPHA:2970
Distal Deletion 12Q	Vesicoureteral reflux, Obsessive-compulsive trait, Self-mutilation, Hydronephrosis, Ectopic kidne...	ORPHA:96149
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Spastic paraparesis, Short toe, Hand tremor, Decreased muscle mass, Patellar hypoplasia, Flexion ...	ORPHA:3041
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias...	ORPHA:99880
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Retinal dystrophy	OMIM:263520
Gaucher Disease, Type Iii	Spastic paraparesis, Pancytopenia, Myoclonus, Splenomegaly, Thrombocytopenia, Ataxia	OMIM:231000
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Multicystic kidney dysplasia, Chorioretinal coloboma	ORPHA:2031
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polydipsia, Polyuria, Nephrolithiasis	OMIM:617994
Pierson Syndrome	Retinal vascular tortuosity, Hypopigmentation of the fundus, Hyperechogenic kidneys, Stage 5 chro...	OMIM:609049
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hand tremor, Weight loss, Hyperactivity, Small for gestational age, Agitation	ORPHA:424
Wolfram Syndrome 1	Cataract, Tremor, Dysphagia, Ataxia, Growth delay	OMIM:222300
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Akinesia, Limb ataxia, Gait ataxia, Tremor, Rigidit...	ORPHA:48818
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Phonic tics, Spasticity, Akinesia, Obsessive-compulsive trait, Tremor, Rigidity, A...	OMIM:234200
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory impair...	ORPHA:99956
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Impaired pain sensation, Supernumerary nipple, Incoordination, Gait ataxia, Overfriendliness, Mot...	OMIM:616579
Parathyroid Carcinoma	Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias...	ORPHA:143
Alternating Hemiplegia Of Childhood	Mydriasis, Failure to thrive, Episodic hemiplegia, Tetraparesis, Oral-pharyngeal dysphagia, Thin ...	ORPHA:2131
22Q11.2 Deletion Syndrome	Optic atrophy, Renal hypoplasia, Depression, Retinal arteriolar tortuosity, Vesicoureteral reflux...	ORPHA:567
Caroli Disease	Polycystic kidney dysplasia, Anorexia	ORPHA:53035
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Hypomagnesemia 3, Renal	Chronic kidney disease, Hematuria, Macroscopic hematuria, Polydipsia, Sterile pyuria, Renal magne...	OMIM:248250
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Polydipsia,...	ORPHA:411634
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Gitelman Syndrome	Hypocalciuria, Enuresis, Renal magnesium wasting, Polydipsia, Salt craving, Polyuria, Nocturia, R...	OMIM:263800
Vogt-Koyanagi-Harada Disease	Cataract, Premature graying of hair, Abnormal eyebrow morphology, Short stature, Abnormal eyelash...	ORPHA:3437
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Spasticity, Failure to thrive, Inappropriate laughter, Low anterior hairli...	OMIM:615802
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykine...	OMIM:168600
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb...	ORPHA:254930
Megalocornea-Intellectual Disability Syndrome	Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho...	ORPHA:2479
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Motor stereotypy, Dysphagia, Abnormal hippocampus morphology	ORPHA:572013
Genitopalatocardiac Syndrome	Renal cyst, Hypospadias	OMIM:231060
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, White hair, Ocular albinism, Hypertonia, Ataxia, Short stature	ORPHA:2720
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Spasticity, Ocular albinism, Abnormality of extrapyramidal motor...	ORPHA:2719
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Polydipsia, Hyperphosphaturia, Hypercalciuria, Polyuria	OMIM:239200
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Coarse hair, Bruxism, Curly hair, Motor stereotypy, Synophrys	OMIM:616351
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia	OMIM:610199
Autosomal Recessive Spastic Paraplegia Type 20	Spasticity, Spastic paraparesis, Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle we...	ORPHA:101000
Wagro Syndrome	Cataract, Aniridia, Obesity, Reduced social reciprocity, Polyphagia, Aggressive behavior, Corneal...	OMIM:612469
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Inability to walk, Intrauterine growth retardation, Thick eyebrow, Myoclonus, Obesity...	OMIM:619229
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Hypoautofluorescent retinal lesion, Horseshoe kidney, Retinal degeneration, Renal cyst, Rod-cone ...	OMIM:250410
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder, Limb myoclonus, Abnormal social behavior	ORPHA:64280
Ataxia-Telangiectasia	Dysdiadochokinesis, Failure to thrive, Abnormal hair morphology, Inability to walk, Myoclonus, In...	OMIM:208900
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare...	OMIM:105210
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Horseshoe kidney, Renal cyst, Rod-cone dystrophy, Retinal degeneration	ORPHA:166035
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Multiple renal cysts	OMIM:614883
Rabson-Mendenhall Syndrome	Nephrocalcinosis, Long penis, Polydipsia, Retinopathy	ORPHA:769
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Increased urinary potassium	ORPHA:231580
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Sjogren-Larsson Syndrome	Flexion contracture, Spastic paraparesis, Spasticity	OMIM:270200
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Optic atrophy, Spastic paraparesis, Lower limb muscle weakness, Hemiparesis, Lower limb spasticit...	ORPHA:395
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ...	OMIM:168601
Peroxisome Biogenesis Disorder 1B	Optic atrophy, Hyperoxaluria, Renal cyst, Rod-cone dystrophy	OMIM:601539
Adrenomyeloneuropathy	Spasticity, Leg muscle stiffness, Progressive spastic paraparesis, Axonal degeneration, Distal lo...	ORPHA:139399
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short stature, Cachexia, Anorexia	ORPHA:1969
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Alazami Syndrome	Sparse eyebrow, Postnatal growth retardation, Abnormal eating behavior, Self-mutilation, Stereoty...	ORPHA:319671
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,...	ORPHA:91495
Chromosome 15Q11.2 Deletion Syndrome	Reduced social reciprocity, Clumsiness, Attention deficit hyperactivity disorder, Ataxia, Short s...	OMIM:615656
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Cerebral palsy, Aggressive behavior, Hypertonia, Lens coloboma, Motor st...	OMIM:618914
Hajdu-Cheney Syndrome	Hypospadias, Iris coloboma, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Meckel Syndrome 14	Polycystic kidney dysplasia	OMIM:619879
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Difficulty walking, Dysmetria, Tremor, Thick hair, Short stature, Gr...	ORPHA:502423
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro...	DECIPHER:81
Developmental And Epileptic Encephalopathy 99	Hypoplastic hippocampus	OMIM:619606
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria	OMIM:610205
Hyperlysinemia	Poor motor coordination, Tip-toe gait, Failure to thrive, Thin eyebrow, Dysmetria, Tremor, Neck h...	ORPHA:2203
Congenital Disorder Of Glycosylation, Type Iia	Failure to thrive, Postnatal growth retardation, Long eyelashes, Thick eyebrow, Self-mutilation, ...	OMIM:212066
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair	ORPHA:2221
Tay-Sachs Disease	Fasciculations, Incoordination, Inability to walk, Laryngeal dystonia, Myoclonus, Dysmetria, Trem...	ORPHA:845
Camurati-Engelmann Disease	Anorexia, Slender build, Cachexia, Delayed puberty, Ataxia, Waddling gait	ORPHA:1328
Familial Gestational Hyperthyroidism	Agitation, Weight loss, Hyperactivity, Hand tremor	ORPHA:99819
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Ogden Syndrome	Irritability, Global glomerulosclerosis, Dysphagia, Polycystic kidney dysplasia, Motor stereotypy...	OMIM:300855
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Self-injurious behavior, Failure to thrive, Intrauterine growth retardation, Frontal upsweep of h...	OMIM:620494
Pleural Mesothelioma	Weight loss, Dysphagia	ORPHA:50251
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spasticity, Inability to walk, Postnatal growth retardation, Reduced social reciprocity, Delayed ...	ORPHA:300570
Orofaciodigital Syndrome I	Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic kidney dysplasia	OMIM:311200
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Rhabdoid Tumor	Hemiplegia, Weight loss, Cerebral palsy	ORPHA:69077
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cataract, Fasciculations, Intrauterine growth retardation, Tremor, Limb hypertonia, Exaggerated s...	OMIM:620327
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Reduced social recipr...	ORPHA:449291
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Spasticity, Nuclear cataract, Inability to walk, Hypertonia, Ataxia, Short stature, Gro...	OMIM:608885
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Alopecia of scalp, Tremor, Ataxia, Short stature	OMIM:201100
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Cataract, Small for gestational age, Failure to thrive, Intrauterine growth retardation, Tremor, ...	OMIM:614052
Hirschsprung Disease	Short stature, Failure to thrive in infancy, Weight loss	ORPHA:388
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Childhood Disintegrative Disorder	Motor stereotypy, Reduced social reciprocity	ORPHA:168782
Waardenburg Syndrome, Type 4A	Aganglionic megacolon, Spastic paraparesis, Ataxia	OMIM:277580
Trichotillomania	Compulsive behaviors, Alopecia, Hair-pulling	OMIM:613229
Joubert Syndrome 18	Horseshoe kidney, Renal cyst	OMIM:614815
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Spasticity, Fine hair, Premature graying of hair, Hemiplegia, Postnatal growth retardation, Intra...	OMIM:612199
Niemann-Pick Disease Type C	Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxia, Dysphagia, Abnorm...	ORPHA:646
Transketolase Deficiency	Increased level of ribose in urine, Self-injurious behavior, Renal cyst, Attention deficit hypera...	ORPHA:488618
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Acrorenal-Mandibular Syndrome	Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder	OMIM:200980
Neuroblastoma, Susceptibility To, 1	Weight loss, Myoclonus, Failure to thrive, Ataxia	OMIM:256700
Pelizaeus-Merzbacher Disease In Female Carriers	Spastic paraparesis, Hand apraxia, Babinski sign, Neurogenic bladder, Lower limb spasticity	ORPHA:280229
Xeroderma Pigmentosum, Complementation Group D	Cataract, Spasticity, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Ataxia, ...	OMIM:278730
Joubert Syndrome 5	Nephronophthisis, Retinal coloboma, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced...	OMIM:610188
Nijmegen Breakage Syndrome	Abnormal hair morphology, Low anterior hairline, Cachexia, Attention deficit hyperactivity disord...	ORPHA:647
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Gait ataxia, Tremor, Self-mutilation, Aggressive behavior, Attention deficit h...	ORPHA:476126
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Sparse eyebrow, Spasticity, Cataplexy, Fasciculations, Hirsutism, Motor stereotypy, Tetraplegia, ...	ORPHA:496641
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease	OMIM:613390
Graves Disease	Polyphagia, Weight loss, Hyperactivity	OMIM:275000
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Tyrosinemia Type 2	Corneal opacity, Tremor, Ataxia	ORPHA:28378
Non-Functioning Paraganglioma	Weight loss, Vocal cord paralysis, Tremor	ORPHA:94080
Beta-Ketothiolase Deficiency	Spasticity, Anorexia, Agitation, Oral aversion, Weight loss, Ataxia, Extrapyramidal dyskinesia	ORPHA:134
Wars2-Related Combined Oxidative Phosphorylation Defect	Difficulty walking, Intrauterine growth retardation, Limb dystonia, Tremor, Dysmetria, Aggressive...	ORPHA:572798
Meckel Syndrome, Type 1	Iris coloboma, Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic k...	OMIM:249000
Mckusick-Kaufman Syndrome	Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula	OMIM:236700
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Arthrogryposis-like hand anomaly, Spastic paraparesis, Clinodactyly, Incoordination, Ataxia, Camp...	ORPHA:369891
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Celiac Disease, Susceptibility To, 1	Alopecia, Failure to thrive, Postnatal growth retardation, Weight loss, Delayed puberty, Ataxia, ...	OMIM:212750
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Opisthotonus, Hypertonia, Tremor, Growth delay	OMIM:250800
Intellectual Developmental Disorder, Autosomal Dominant 38	Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy	OMIM:616393
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Alopecia, Cachexia, Nail dystrophy	ORPHA:37042
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia	OMIM:618527
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Tremor, Ataxia	ORPHA:79095
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss, Growth delay	OMIM:266600
Anaplastic Thyroid Carcinoma	Weight loss, Dysphagia, Vocal cord paralysis	ORPHA:142
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, ...	ORPHA:199351
Coasy Protein-Associated Neurodegeneration	Parkinsonism, Spastic paraparesis	ORPHA:397725
Acrodermatitis Enteropathica	Alopecia, Failure to thrive, Abnormal eyebrow morphology, Weight loss, Anorexia, Short stature, C...	ORPHA:37
Thymic Carcinoma	Diaphragmatic paralysis, Weight loss	ORPHA:99868
Brain-Lung-Thyroid Syndrome	Megacystis, Abnormal eating behavior, Vesicoureteral reflux, Short attention span, Abnormal drink...	ORPHA:209905
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Broad-based gait, Decreased body weight, Progressive spastic quadriplegia, Isometric ...	OMIM:619475
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Horizontal eyebrow, Chorea, Self-mutilation, Hyperkinetic movements, Motor stereot...	ORPHA:522077
Toxic Epidermal Necrolysis	Polydipsia, Abnormality of the urethra, Renal insufficiency, Dysphagia, Dysuria	ORPHA:537
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Joubert Syndrome 2	Nephronophthisis, Optic disc coloboma, Chorioretinal coloboma, Renal insufficiency, Renal cyst, R...	OMIM:608091
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Ataxia, Dystonia, Athetosis, Dy...	ORPHA:25
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Dysmetria, Aggressive behavior, Abnormal pyramidal sign, Unsteady gait, Nonprogressive ce...	ORPHA:314647
Zellweger Syndrome	Optic atrophy, Multicystic kidney dysplasia, Hydronephrosis, Cognitive impairment, Hypospadias, A...	ORPHA:912
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hydronephrosis, Renal cyst, Attention deficit hyperactivity disorder, ...	ORPHA:464311
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia	OMIM:236500
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma	OMIM:135150
Rauch-Steindl Syndrome	Highly arched eyebrow, Failure to thrive, Postnatal growth retardation, Intrauterine growth retar...	OMIM:619695
Bannayan-Riley-Ruvalcaba Syndrome	Short stature, Cachexia	ORPHA:109
Pontocerebellar Hypoplasia, Type 13	Hypoplastic hippocampus, Lateral ventricle dilatation	OMIM:618606
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Involuntary movements, Motor stereotypy, Paroxysmal dys...	ORPHA:98784
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Iris atrophy, Babinski sign, Parkinsonism, Ataxia, Bradykinesia	OMIM:146500
Reticular Dysgenesis	Weight loss, Failure to thrive	ORPHA:33355
Hereditary Cryohydrocytosis With Reduced Stomatin	Spastic paraplegia, Cataract, Postnatal growth retardation, Hypertonia, Ataxia, Short stature, Zo...	ORPHA:168577
Microsporidiosis	Keratitis, Keratoconjunctivitis, Cachexia, Weight loss, Anorexia, Corneal ulceration	ORPHA:2552
Panhypophysitis	Polydipsia, Hyposthenuria	ORPHA:95513
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Hyperactivity	ORPHA:85327
Erdheim-Chester Disease	Hydronephrosis, Polydipsia, Dysuria, Renal insufficiency	ORPHA:35687
Mody	Nephropathy, Glycosuria, Retinopathy, Renal cyst, Abnormality of the kidney	ORPHA:552
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Distal amyotrophy, Cerebral atrophy, Decreased nerve conduction ...	OMIM:609136
Histidinemia	Hyperactivity	ORPHA:2157
Eosinophilic Fasciitis	Paresthesia, Weight loss	ORPHA:3165
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss	OMIM:605543
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Marfan Syndrome	Ectopia lentis, Hypoplasia of the iris, Slender build, Cachexia, Attention deficit hyperactivity ...	ORPHA:558
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Optic atrophy, Renal agenesis, Cystic renal dy...	OMIM:220500
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Syndromic Diarrhea	Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:84064
Fliedner-Zweier Syndrome	Self-injurious behavior, Unilateral renal agenesis, Multicystic kidney dysplasia, Hydronephrosis,...	OMIM:620511
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system	OMIM:221900
X-Linked Agammaglobulinemia	Alopecia, Failure to thrive, Weight loss, Short stature, Conjunctivitis	ORPHA:47
Serotonin Syndrome	Mydriasis, Myoclonus, Tremor, Rigidity, Clonus, Hypertonia, Restlessness, Agitation	ORPHA:43116
Kleefstra Syndrome	Self-injurious behavior, Vesicoureteral reflux, Renal insufficiency, Self-mutilation, Hydronephro...	ORPHA:261494
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Retinal coloboma, Bifid ureter, Nephroblastoma, Renal cyst, Coloboma, Renal malr...	OMIM:617107
Aicardi-Goutieres Syndrome 9	Spasticity, Failure to thrive, Intrauterine growth retardation, Spastic diplegia, Self-mutilation...	OMIM:619487
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cataract, Spasticity, Resting tremor, Head tremor, Babinski sign, Ataxia	ORPHA:314404
Neuromuscular Oculoauditory Syndrome	Multiple renal cysts, Reduced renal corticomedullary differentiation, Chorioretinal lacunae, Reti...	OMIM:618733
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop...	OMIM:614643
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Weight loss, Severe short-limb dwarfism, Failure to thrive	ORPHA:1842
Gitelman Syndrome	Focal segmental glomerulosclerosis, Enuresis, Polydipsia, Renal tubular acidosis, Proteinuria, Sa...	ORPHA:358
Cataracts, Spastic Paraparesis, And Speech Delay	Spastic paraparesis	OMIM:619338
Joubert Syndrome 21	Optic atrophy, Hyperechogenic kidneys, Retinopathy, Megalopapilla, Renal cyst, Dysphagia	OMIM:615636
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Polydipsi...	OMIM:241200
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Self-injurious behavior, Depression, Polydipsia, Emotional lability, Polyphagia, Aggressive behav...	ORPHA:293987
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph...	ORPHA:1834
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy, Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Uret...	OMIM:618460
Stickler Syndrome	Cataract, Ectopia lentis, Slender build, Astigmatism, Hemiplegia/hemiparesis, Cachexia, Short sta...	ORPHA:828
Glossopharyngeal Neuralgia	Weight loss, Dysesthesia, Vocal cord paralysis, Oral-pharyngeal dysphagia	ORPHA:221098
Joubert Syndrome 6	Oculomotor apraxia, Motor stereotypy, Ataxia	OMIM:610688
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia	OMIM:614922
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Renal cyst, Micropenis, Progressive neurologic deterioration, Polycystic kidney...	OMIM:210710
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Weight loss	ORPHA:312
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Cataract, Tongue tremor, Somatic sensory dysfunction, Tip-toe gait,...	ORPHA:466768
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Retinal degeneration, Proteinuria, Renal ...	OMIM:208500
Congenital Tufting Enteropathy	Cataract, Failure to thrive, Punctate keratitis, Weight loss, Corneal erosion	ORPHA:92050
Tuberous Sclerosis 2	Renal angiomyolipoma, Attention deficit hyperactivity disorder, Achromatic retinal patches, Renal...	OMIM:613254
Caroli Syndrome	Polycystic kidney dysplasia, Abnormality of the kidney	ORPHA:480520
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Tuberous Sclerosis 1	Renal angiomyolipoma, Attention deficit hyperactivity disorder, Achromatic retinal patches, Renal...	OMIM:191100
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Metachromatic Leukodystrophy	Addictive behavior, Tip-toe gait, Incoordination, Tremor, Dystonia, Gait disturbance, Ataxia, Dec...	ORPHA:512
Roberts Syndrome	Long penis, Polycystic kidney dysplasia	ORPHA:3103
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Abnormal temper tantrums, Head-banging, Intrauterine growth retardation, O...	ORPHA:177907
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Follicular Lymphoma	Weight loss	ORPHA:545
Immunodeficiency 27A	Weight loss, Anorexia	OMIM:209950
Atelosteogenesis Type I	Retinal dysplasia, Multiple renal cysts	ORPHA:1190
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Multicystic kidney dysplasia, Iris coloboma, Septo-optic dysplasia	ORPHA:3301
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Hypotonia, Ataxia, And Delayed Development Syndrome	Pain insensitivity, Broad-based gait, Horizontal eyebrow, Speech apraxia, Thick eyebrow, Gait ata...	OMIM:617330
Familial Colorectal Cancer Type X	Paresthesia, Hemiplegia/hemiparesis, Attention deficit hyperactivity disorder, Abnormal pyramidal...	ORPHA:440437
Lissencephaly 9 With Complex Brainstem Malformation	Dysgenesis of the hippocampus, Dysphagia	OMIM:618325
Benign Recurrent Intrahepatic Cholestasis	Weight loss, Anorexia	ORPHA:65682
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko...	OMIM:310600
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling, Motor stereotypy, Lower limb spasticity, Clonus, Hyperactivity, Myoclonic spasms, H...	ORPHA:447997
Axial Osteomalacia	Renal cyst	OMIM:109130
Focal Myositis	Weight loss	ORPHA:48918
Lysosomal Acid Lipase Deficiency	Cachexia, Weight loss, Failure to thrive	ORPHA:275761
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Multicystic kidney dysplasia, Hydronephrosis, Attention deficit hyperactivity diso...	ORPHA:261349
Hypercalcemia, Infantile, 1	Weight loss, Failure to thrive	OMIM:143880
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
7Q11.23 Microduplication Syndrome	Self-injurious behavior, Horizontal eyebrow, Sparse anterior scalp hair, Long eyelashes, Obesity,...	ORPHA:96121
Von Hippel-Lindau Disease	Retinal capillary hemangioma, Macular edema, Elevated urinary catecholamine level, Hypertensive r...	ORPHA:892
Meckel Syndrome, Type 10	Micropenis, Renal cyst, Hypospadias	OMIM:614175
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria	OMIM:615398
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Obesity, Tremor, Abnormal pyramidal sign, Ataxia, Short stature, Unsteady gait	OMIM:614947
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Slender finger, Spastic paraparesis, Clinodactyly, Slender toe, Deviation of the 5th toe	ORPHA:391408
Biotinidase Deficiency	Optic atrophy, Spastic paraparesis, Myelopathy, Limb muscle weakness, Ataxia, Optic neuropathy	ORPHA:79241
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis, Coloboma, Iris coloboma	ORPHA:1297
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypoplastic hippocampus	OMIM:617780
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Optic disc coloboma, Chorioretinal coloboma, Renal ins...	ORPHA:1454
Scheie Syndrome	Abnormal nerve conduction velocity, Spastic paraparesis, Splenomegaly, Cerebral palsy	ORPHA:93474
Niemann-Pick Disease, Type C2	Spasticity, Cataplexy, Motor stereotypy, Ataxia, Dystonia, Dysphagia	OMIM:607625
Cornelia De Lange Syndrome 1	Self-injurious behavior, Optic atrophy, Renal hypoplasia, Optic disc coloboma, Reduced renal cort...	OMIM:122470
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Microphallus, Optic disc coloboma, Vesicoureteral reflux, Hydronephrosis, Renal...	OMIM:618454
Wiedemann-Steiner Syndrome	Rhizomelia, Failure to thrive, Postnatal growth retardation, Long eyelashes, Thick eyebrow, Intra...	ORPHA:319182
Juvenile Polyposis Of Infancy	Short stature, Cachexia	ORPHA:79076
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Hand tremor, Long eyelashes, Frontal upsweep of hair, Gait ataxia, Dysmetria, A...	OMIM:614756
Giant Cell Arteritis	Ataxia, Alopecia, Paresthesia, Weight loss, Anorexia	ORPHA:397
Full Nf2-Related Schwannomatosis	Memory impairment, Abnormal optic nerve morphology, Epiretinal membrane, Remnants of the hyaloid ...	ORPHA:637
Dpagt1-Cdg	Head-banging, Failure to thrive, Hypertrichosis, Inability to walk, Akinesia, Stereotypical body ...	ORPHA:86309
Pfapa Syndrome	Weight loss	ORPHA:42642
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Retinal detachment, Cognitive impairment, Displacement of the ureth...	ORPHA:1556
Atelis Syndrome 2	Attention deficit hyperactivity disorder, Vitreous hemorrhage, Remnants of the hyaloid vascular s...	OMIM:620185
Fg Syndrome Type 1	Broad-based gait, Slender build, Frontal upsweep of hair, Attention deficit hyperactivity disorde...	ORPHA:93932
Slc35A2-Cdg	Hypoplastic hippocampus, Lateral ventricle dilatation	ORPHA:356961
48,Xxxy Syndrome	Attention deficit hyperactivity disorder, Obesity, Abnormal social behavior, Tremor	ORPHA:96263
Polysyndactyly With Cardiac Malformation	Renal cyst, Hepatic cysts	OMIM:263630
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma, Attention deficit hyperactivity disorder, Compulsiv...	ORPHA:1001
Takayasu Arteritis	Weight loss, Anorexia	ORPHA:3287
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Self-injurious behavior, Head-banging, Failure to thrive, Frequent temper tantrums, Anterior pola...	OMIM:619575
Oculodentodigital Dysplasia	Optic atrophy, Spasticity, Spastic paraparesis, Toe syndactyly, Finger syndactyly, Clinodactyly, ...	ORPHA:2710
Mend Syndrome	Cataract, Failure to thrive, Aggressive behavior, Limb hypertonia, Hyperactivity, Short stature, ...	ORPHA:401973
Cockayne Syndrome B	Severe short stature, Microcornea, Dry hair, Failure to thrive, Hypoplasia of the iris, Abnormal ...	OMIM:133540
Nephroblastoma	Aniridia, Weight loss	ORPHA:654
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Motor stereotypy, Hyperactivi...	ORPHA:464306
Leishmaniasis	Weight loss, Anorexia	ORPHA:507
Secondary Short Bowel Syndrome	Polyphagia, Weight loss, Growth delay, Failure to thrive	ORPHA:95427
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Macular degeneration, Nephronophthisis, Attenuation of retinal blood vessels...	OMIM:266920
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Neuroblastoma	Myoclonus, Weight loss, Antalgic gait, Ataxia	ORPHA:635
3-Methylglutaconic Aciduria, Type Viii	Cataract, Failure to thrive, Tremor, Clonus, Dysphagia, Hypertonia, Dystonia, Growth delay	OMIM:617248
3-Methylglutaconic Aciduria Type 7	Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria	ORPHA:445038
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia	OMIM:619774
Riddle Syndrome	Poor hand-eye coordination, Conjunctival telangiectasia, Clumsiness, Gait disturbance, Weight los...	ORPHA:420741
Microcephaly-Capillary Malformation Syndrome	Hypoplastic hippocampus	OMIM:614261
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Proteinuria, Renal cyst, Rod-cone dystrophy, Nephrotic syndrome	OMIM:212065
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Cataract, Ocular albinism, Long eyelashes, Astigmatism, Weight loss, Anore...	ORPHA:79430
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ...	ORPHA:2973
Oculopharyngodistal Myopathy 1	Difficulty walking, Tremor, Weight loss, Ataxia, Dysphagia	OMIM:164310
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Hydroxykynureninuria	Motor stereotypy, Hypertonia	ORPHA:79155
Peripheral Primitive Neuroectodermal Tumor	Weight loss, Somatic sensory dysfunction, Torticollis, Anorexia	ORPHA:370348
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Anorexia, Myoclonus, Spastic hemiparesis, Weight loss, Ataxia	ORPHA:20
Femoral-Facial Syndrome	Micropenis, Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis	OMIM:134780
Lymphangioleiomyomatosis	Optic atrophy, Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Cog...	ORPHA:538
Chondrodysplasia Punctata, Autosomal Dominant	Cataract, Sparse hair, Moderate postnatal growth retardation, Coarse hair	OMIM:118650
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Proximal tubulopathy	OMIM:602579
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Chorioretinal coloboma, Horseshoe kidney, Renal hypoplasia/aplasia,...	ORPHA:2092
Aicardi-Goutières Syndrome	Spasticity, Spastic paraparesis, Neonatal alloimmune thrombocytopenia, Degeneration of the striat...	ORPHA:51
8P23.1 Microdeletion Syndrome	Intrauterine growth retardation, Obesity, Attention deficit hyperactivity disorder, Weight loss, ...	ORPHA:251071
Wild Type Attr Amyloidosis	Impaired vibratory sensation, Weight loss	ORPHA:330001
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia	OMIM:608022
Cryptogenic Organizing Pneumonia	Weight loss, Anorexia	ORPHA:1302
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Cataract, Anterior lenticonus, Keratitis, Failure to thrive, Weight loss, Dysphagia	ORPHA:1018
Familial Infantile Myoclonic Epilepsy	Abnormal hippocampus morphology	ORPHA:352582
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss, Proportionate short stature	ORPHA:171876
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Intrauterine growth retardation, Apraxia, Weight loss, Ataxia	ORPHA:99885
Argininemia	Spastic paraparesis, Cerebellar atrophy, Frequent falls, Progressive spastic quadriplegia, Spasti...	OMIM:207800
African Trypanosomiasis	Alopecia, Involuntary movements, Keratitis, Somatic sensory dysfunction, Fasciculations, Difficul...	ORPHA:3385
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Trisomy 20P	Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Cognitive impairment, Abnormalit...	ORPHA:261318
Van Esch-O'Driscoll Syndrome	Spasticity, Unilateral vocal cord paralysis, Intrauterine growth retardation, Motor stereotypy, A...	OMIM:301030
Hypocalciuric Hypercalcemia, Familial, Type Iii	Depression, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithi...	OMIM:600740
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Vesicoureteral reflux, Renal cyst, Attention deficit hyperactivity disorder, Colob...	OMIM:616975
Polymyositis	Gait disturbance, Weight loss, Anorexia	ORPHA:732
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro...	ORPHA:2461
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss, Vocal cord paralysis, Tremor	ORPHA:276621
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic...	ORPHA:887
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Say-Barber-Miller Syndrome	Optic atrophy, Spastic paraparesis, Patellar hypoplasia, Elbow flexion contracture, Ulnar deviati...	ORPHA:3132
Malignant Atrophic Papulosis	Pain insensitivity, Cataract, Weight loss	ORPHA:679
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia	OMIM:619980
Cap Polyposis	Weight loss	ORPHA:160148
Osteosarcoma	Weight loss	ORPHA:668
Chronic Beryllium Disease	Weight loss	ORPHA:133
Hereditary Pheochromocytoma-Paraganglioma	Aniridia, Weight loss, Vocal cord paralysis, Tremor	ORPHA:29072
Medullary Thyroid Carcinoma	Weight loss, Dysphagia	ORPHA:1332
Eosinophilic Gastroenteritis	Weight loss, Dysphagia	ORPHA:2070
Congenital Bile Acid Synthesis Defect Type 2	Renal cyst, Dark urine	ORPHA:79303
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma	ORPHA:2869
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Spastic paraparesis, Toe syndactyly, Long hallux, Bilateral camptodactyly, Talipes equinovarus	OMIM:619234
Hurler Syndrome	Abnormal nerve conduction velocity, Spastic paraparesis, Cerebral palsy, Camptodactyly of finger,...	ORPHA:93473
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Familial Glucocorticoid Deficiency	Weight loss, Tetraplegia, Failure to thrive, Anorexia	ORPHA:361
Contractures-Developmental Delay-Pierre Robin Syndrome	Abnormal hippocampus morphology	ORPHA:436003
Roberts-Sc Phocomelia Syndrome	Long penis, Horseshoe kidney, Coloboma, Polycystic kidney dysplasia, Hypospadias	OMIM:268300
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Trisomy 1Q	Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261344
Von Hippel-Lindau Syndrome	Retinal capillary hemangioma, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst, Pancre...	OMIM:193300
Eosinophilic Granulomatosis With Polyangiitis	Gait disturbance, Weight loss, Dysphagia, Hemiplegia/hemiparesis	ORPHA:183
Ménétrier Disease	Weight loss, Anorexia	ORPHA:2494
Yao Syndrome	Keratoconjunctivitis sicca, Weight loss	OMIM:617321
Acute Monoblastic/Monocytic Leukemia	Weight loss, Anorexia	ORPHA:514
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Nmda Receptor Encephalitis	Involuntary movements, Oculogyric crisis, Chorea, Myoclonus, Rigidity, Opisthotonus, Dystonia, Mo...	ORPHA:217253
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Meckel Syndrome, Type 6	Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder	OMIM:612284
Dihydropyrimidine Dehydrogenase Deficiency	Microcornea, Short nail, Inability to walk, Long eyelashes, Astigmatism, Hypertonia, Abnormal soc...	ORPHA:1675
Kaposi Sarcoma	Weight loss	ORPHA:33276
Behçet Disease	Cataract, Anorexia, Paresthesia, Hemiparesis, Abnormal pyramidal sign, Gait disturbance, Keratoco...	ORPHA:117
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Obesity, Emotional lability, Abdominal obesity	OMIM:219090
Proteus Syndrome	Cataract, Central heterochromia, Generalized hirsutism, Cachexia, Buphthalmos	ORPHA:744
Cystic Echinococcosis	Renal cyst, Membranous nephropathy, Hepatic cysts, Ovarian cyst	ORPHA:400
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Nephroblastoma, Renal cyst, Micropenis, Hypospadias	OMIM:257300
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Campomelia, Cumming Type	Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts	ORPHA:1318
Thyrotoxic Periodic Paralysis	Periodic hypokalemic paresis, Obesity, Tremor, Respiratory paralysis, Paralysis, Weight loss, Tet...	ORPHA:79102
Poems Syndrome	Hyperesthesia, Hypertrichosis, Leukonychia, Paresthesia, Weight loss	ORPHA:2905
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac...	ORPHA:79404
Mayer-Rokitansky-Kuster-Hauser Syndrome	Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,...	OMIM:277000
Mosaic Trisomy 1	Micropenis, Renal cyst, Renal cortical cysts, Penile hypospadias	ORPHA:1692
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Enlarged kidney, Cystic renal dysplasia	OMIM:615415
Aggressive Systemic Mastocytosis	Weight loss, Anorexia	ORPHA:98850
Oculocerebrorenal Syndrome Of Lowe	Proximal renal tubular acidosis, Aminoaciduria, Nephrocalcinosis, Depression, Self-injurious beha...	ORPHA:534
Pitt-Hopkins Syndrome	Self-injurious behavior, Hypoplastic hippocampus, Motor stereotypy	OMIM:610954
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Pallister-Hall Syndrome	Renal hypoplasia, Hydroureter, Distal urethral duplication, Hydronephrosis, Renal cyst, Micropeni...	OMIM:146510
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Renal cyst, Attention deficit hyperactivity disorder, Aggressive behavior, Hypospadias, Optic ner...	ORPHA:495875
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Familial Adenomatous Polyposis 4	Renal cyst, Ovarian cyst	OMIM:617100
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Bullous Pemphigoid	Weight loss	ORPHA:703
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Retinal coloboma, Bifid ureter, Nephroblastoma, Renal malrotation, ...	ORPHA:500095
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Polyarteritis Nodosa	Weight loss	ORPHA:767
Meckel Syndrome, Type 4	Renal cyst	OMIM:611134
Mucolipidosis Type Ii	Dry hair, Fine hair, White hair, Inability to walk, Postnatal growth retardation, Weight loss, Sh...	ORPHA:576
Pemphigus Vulgaris	Weight loss, Alopecia of scalp	ORPHA:704
Acute Promyelocytic Leukemia	Addictive alcohol use, Weight loss, Anorexia	ORPHA:520
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia	ORPHA:1578
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Congenital megau...	ORPHA:369837
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Fair hair, Speech apraxia, Postnatal growth retardation, Slender build, Inappropriate l...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Fair hair, Speech apraxia, Postnatal growth retardation, Slender build, Inappropriate l...	ORPHA:363958
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Pearson Syndrome	Pigmentary retinopathy, Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria,...	ORPHA:699
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Smith-Lemli-Opitz Syndrome	Self-injurious behavior, Optic atrophy, Multicystic kidney dysplasia, Abnormal localization of ki...	ORPHA:818
1P36 Deletion Syndrome	Self-injurious behavior, Optic atrophy, Ocular albinism, Hydronephrosis, Renal cyst, Motor stereo...	ORPHA:1606
Neuroendocrine Tumor Of The Colon	Weight loss, Anorexia	ORPHA:100080
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Pigmentary retinopathy, Renal hypoplasia, Multiple small medu...	OMIM:118450
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Pancreatic cysts, Stage 5 chronic kidney disease, Multiple glomerul...	OMIM:267010
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Optic nerve dysplasia, Hydronephrosis, Micropenis, Retinal dysplasia	OMIM:615287
Bardet-Biedl Syndrome	Chronic kidney disease, Depression, Horseshoe kidney, Short attention span, Emotional lability, V...	ORPHA:110
Spondylocarpotarsal Synostosis Syndrome	Renal cyst, Abnormality of retinal pigmentation	OMIM:272460
Mosaic Trisomy 9	Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Hypoplasia of penis, Renal dysplasia	ORPHA:99776
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Aicardi-Goutieres Syndrome 7	Tetraparesis, Intrauterine growth retardation, Dystonia, Lower limb spasticity, Limb hypertonia, ...	OMIM:615846
Carney-Stratakis Syndrome	Weight loss, Dysphagia	ORPHA:97286
Acute Adrenal Insufficiency	Failure to thrive, Sparse axillary hair, Salt craving, Weight loss, Delayed puberty, Anorexia	ORPHA:95409
Histiocytoid Cardiomyopathy	Optic atrophy, Renal cyst, Polycystic ovaries	ORPHA:137675
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la...	ORPHA:353281
Glucose-Galactose Malabsorption	Weight loss, Failure to thrive	ORPHA:35710
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Msh3-Related Attenuated Familial Adenomatous Polyposis	Renal cyst, Ovarian dermoid cyst	ORPHA:480536
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Alveolar Echinococcosis	Ataxia, Weight loss, Hemiparesis	ORPHA:284
Adrenocortical Carcinoma	Increased body weight, Weight loss, Hypertrichosis	ORPHA:1501
Neuroendocrine Tumor Of The Rectum	Weight loss, Anorexia	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss, Anorexia	ORPHA:100082
Loeffler Endocarditis	Weight loss	ORPHA:75566
Bronchial Neuroendocrine Tumor	Weight loss, Anorexia	ORPHA:97287
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2075
Smith-Lemli-Opitz Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Ureteropelvic junction obstruction, ...	OMIM:270400
Lynch Syndrome	Paresthesia, Hemiplegia/hemiparesis, Attention deficit hyperactivity disorder, Abnormal pyramidal...	ORPHA:144
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal cyst, Renal dysplasia	OMIM:617260
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H...	ORPHA:49
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture...	ORPHA:2473
Rheumatoid Arthritis	Weight loss	OMIM:180300
Primary Intestinal Lymphangiectasia	Weight loss, Growth delay	ORPHA:90362
Lymphoid Interstitial Pneumonia	Keratoconjunctivitis sicca, Weight loss, Failure to thrive	ORPHA:79128
Meckel Syndrome	Optic atrophy, Multicystic kidney dysplasia, Urethral atresia, Ureteral duplication, Pancreatic c...	ORPHA:564
Familial Thrombocytosis	Paresthesia, Weight loss	ORPHA:71493
Fryns Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias	ORPHA:2059
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Self-injurious behavior, Broad-based gait, Fixated interests, Hair-pulling, P...	OMIM:620330
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Hippocampal malrotation	OMIM:620654
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Systemic Lupus Erythematosus	Alopecia, Weight loss, Chorea, Anorexia	ORPHA:536
Simple Cryoglobulinemia	Paresthesia, Spontaneous pain sensation, Weight loss	ORPHA:91139
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Felty Syndrome	Weight loss	ORPHA:47612
Late-Onset Isolated Acth Deficiency	Weight loss, Failure to thrive, Anorexia	ORPHA:199299
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Williams Syndrome	Spasticity, Megalocornea, Overfriendliness, Posterior embryotoxon, Ataxia, Flat cornea, Abnormal ...	ORPHA:904
Pneumocystosis	Weight loss	ORPHA:723
Stevens-Johnson Syndrome	Conjunctivitis, Weight loss, Dysphagia, Corneal erosion	ORPHA:36426
Primary Hepatic Neuroendocrine Carcinoma	Weight loss, Anorexia	ORPHA:100085
Primrose Syndrome	Ataxia, Posterior polar cataract, Self-injurious behavior, Sparse body hair, Tics, Dystrophic fin...	OMIM:259050
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia	ORPHA:85201
Microphthalmia, Syndromic 2	Hypospadias, Iris coloboma, Retinal detachment, Remnants of the hyaloid vascular system	OMIM:300166
Monosomy 22Q13.3	Impaired pain sensation, Bruxism, Long eyelashes, Thick eyebrow, Obesity, Hair-pulling, Hyperacti...	ORPHA:48652
Apert Syndrome	Abnormal morphology of the limbic system, Hydrocephalus, Agenesis of corpus callosum	OMIM:101200
Kaposiform Lymphangiomatosis	Pancreatic cysts, Multiple renal cysts, Enlarged kidney	ORPHA:464329
Refractory Celiac Disease	Weight loss	ORPHA:398063
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Postnatal growth retardation, Corneal scarring, Dense posterior cortical catar...	OMIM:309000
Pagod Syndrome	Optic atrophy, Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:991
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal cyst, Renal hypoplasia	OMIM:616300
Imerslund-Gräsbeck Syndrome	Weight loss, Failure to thrive	ORPHA:35858
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L...	ORPHA:240094
Insulin-Resistance Syndrome Type B	Alopecia, Abnormality of body weight, Decreased body weight, Increased body weight, Hirsutism, We...	ORPHA:2298
Neuroocular Syndrome 1	Hypoplasia of the fovea, Attention deficit hyperactivity disorder, Remnants of the hyaloid vascul...	OMIM:619539
Polycythemia Vera	Paresthesia, Weight loss	ORPHA:729
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Rena...	ORPHA:2538
Symptomatic Form Of Hfe-Related Hemochromatosis	Weight loss	ORPHA:465508
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Schinzel-Giedion Syndrome	Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, Renal cyst, Dysphagia...	ORPHA:798
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Addison Disease	Failure to thrive, Sparse axillary hair, Salt craving, Weight loss, Delayed puberty, Anorexia	ORPHA:85138
D-Bifunctional Protein Deficiency	Renal cyst	OMIM:261515
Cornelia De Lange Syndrome 6	Highly arched eyebrow, Sparse eyebrow, Intrauterine growth retardation, Frontal upsweep of hair, ...	OMIM:620568
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Renal insufficiency	OMIM:617478
Al Amyloidosis	Weight loss, Dysphagia	ORPHA:85443
Juvenile Dermatomyositis	Alopecia, Weight loss, Dysphagia	ORPHA:93672
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Jacobsen Syndrome	Hydronephrosis, Attention deficit hyperactivity disorder, Iris coloboma, Multicystic kidney dyspl...	ORPHA:2308
Osteootohepatoenteric Syndrome	Weight loss, Failure to thrive	OMIM:619377
Granulomatosis With Polyangiitis	Conjunctivitis, Weight loss, Keratitis	OMIM:608710
Kikuchi-Fujimoto Disease	Anorexia, Alopecia, Weight loss, Ataxia	ORPHA:50918
Gallbladder Neuroendocrine Tumor	Weight loss, Anorexia	ORPHA:100086
Tetrasomy 9P	Inappropriate behavior, Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Mul...	ORPHA:3310
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Tremor, Weight loss, Delayed puberty, Abnormal hair quantity	ORPHA:91347
Tropical Endomyocardial Fibrosis	Cachexia	ORPHA:75565
Pancreatic Triacylglycerol Lipase Deficiency	Keratoconjunctivitis sicca, Growth delay, Weight loss	ORPHA:309031
Fryns Syndrome	Renal agenesis, Hydronephrosis, Renal cyst, Ureteral duplication, Hypospadias	OMIM:229850
Immunodeficiency 31C	Short stature, Weight loss, Delayed puberty, Growth delay	OMIM:614162
Klatskin Tumor	Weight loss	ORPHA:99978
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la...	ORPHA:353277
Neuroendocrine Tumor Of Stomach	Weight loss, Anorexia	ORPHA:100075
Holoprosencephaly 2	Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system	OMIM:157170
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Cystic renal dysplasia	OMIM:200995
Beckwith-Wiedemann Syndrome	Nephropathy, Vesicoureteral reflux, Nephroblastoma, Choroideremia, Nephrolithiasis, Hypercalciuri...	ORPHA:116
Fanconi Anemia	Cataract, Intrauterine growth retardation, Astigmatism, Aplasia/Hypoplasia of the iris, Weight lo...	ORPHA:84
Townes-Brocks Syndrome	Iris coloboma, Renal hypoplasia, Chorioretinal coloboma, Renal insufficiency, Vesicoureteral refl...	ORPHA:857
Anemia, Congenital Dyserythropoietic, Type Iv	Short stature, Weight loss	OMIM:613673
Brucellosis	Failure to thrive, Chorea, Weight loss, Anorexia, Small for gestational age	ORPHA:1304
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Distal Deletion 15Q	Multicystic kidney dysplasia, Attention deficit hyperactivity disorder, Micropenis, Abnormal loca...	ORPHA:1596
Adult-Onset Still Disease	Weight loss	ORPHA:829
Thymoma	Weight loss	ORPHA:99867
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Cystic renal dysplasia	OMIM:269860
Multiple Myeloma	Paresthesia, Weight loss	ORPHA:29073
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss, Mild postnatal growth retardation	ORPHA:85408
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Q Fever	Weight loss, Anorexia	ORPHA:781
Familial Pancreatic Carcinoma	Weight loss, Anorexia	ORPHA:1333
Trisomy 10P	Multiple renal cysts, Dysphagia, Abnormality of the kidney	ORPHA:171929
Hutchinson-Gilford Progeria Syndrome	Shuffling gait, Dystrophic toenail, Alopecia totalis, Delayed menarche, Loss of eyelashes, Dystro...	ORPHA:740
Hajdu-Cheney Syndrome	Iris coloboma, Multiple renal cysts, Hypospadias	ORPHA:955
Igg4-Related Retroperitoneal Fibrosis	Weight loss, Anorexia	ORPHA:49041
Peters Plus Syndrome	Optic atrophy, Multicystic kidney dysplasia, Iris coloboma, Renal duplication, Renal hypoplasia/a...	ORPHA:709
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts	ORPHA:2750
Cranioectodermal Dysplasia 2	Renal cyst, Renal insufficiency	OMIM:613610
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Hydroureter, Nephroblastoma, Hydronephrosis, Ureteral duplication, ...	ORPHA:373
Autosomal Recessive Robinow Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis	ORPHA:1507
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Reactive Arthritis	Conjunctivitis, Dystrophic fingernails, Weight loss	ORPHA:29207
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal hypoplasia, Chorioretinal coloboma, Renal insufficiency, Vesi...	OMIM:107480
Chronic Graft Versus Host Disease	Alopecia, Nail dystrophy, Recurrent corneal erosions, Keratoconjunctivitis sicca, Weight loss, An...	ORPHA:99921
Branchiooculofacial Syndrome	Hypospadias, Renal agenesis, Retinal coloboma, Renal cyst, Iris coloboma	OMIM:113620
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1052
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia	OMIM:300373
Tubulointerstitial Nephritis And Uveitis Syndrome	Cataract, Posterior synechiae of the anterior chamber, Iris nevus, Weight loss, Anorexia, Anterio...	ORPHA:91500
Hydranencephaly	Hypoplastic hippocampus	ORPHA:2177
Nocardiosis	Conjunctivitis, Weight loss, Keratitis, Anorexia	ORPHA:31204
Pancreatoblastoma	Weight loss	ORPHA:677
Robinow Syndrome	Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis	ORPHA:97360
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Dysphagia, Failure to thrive	ORPHA:2020
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Iris coloboma, Multicystic kidney dysplasia, Retinal coloboma, Bruxism, Vesicourete...	ORPHA:261537
Castleman Disease	Weight loss	ORPHA:160
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Attention deficit hyper...	ORPHA:199
Ppoma	Weight loss, Anorexia	ORPHA:97278
Mowat-Wilson Syndrome	Webbed penis, Iris coloboma, Multicystic kidney dysplasia, Retinal coloboma, Bruxism, Vesicourete...	ORPHA:2152
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Optic atrophy, Multicystic kidney dysplasia, Iris coloboma, Duplication of renal pe...	ORPHA:261552
Granulomatosis With Polyangiitis	Hemiplegia, Weight loss	ORPHA:900
Somatostatinoma	Weight loss, Anorexia	ORPHA:97283
Pyomyositis	Weight loss	ORPHA:764
Vipoma	Weight loss, Anorexia	ORPHA:97282
Grfoma	Weight loss, Anorexia	ORPHA:97261
Tropical Pancreatitis	Weight loss	ORPHA:103918
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Frontal balding, Failure to thrive, Hirsutism, Weight loss, Short stature	ORPHA:90794
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Glucagonoma	Weight loss, Anorexia	ORPHA:97280
Dermatomyositis	Alopecia, Weight loss, Dysphagia, Abnormal hair quantity	ORPHA:221
Postinfectious Vasculitis	Weight loss, Anorexia	ORPHA:48435
Simpson-Golabi-Behmel Syndrome, Type 1	Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Renal cyst, Hypospadias, Enlarged ki...	OMIM:312870
Rat-Bite Fever	Weight loss	ORPHA:31205
Malt Lymphoma	Weight loss	ORPHA:52417
Sarcoidosis	Cataract, Alopecia, Keratoconjunctivitis sicca, Weight loss, Abnormal conjunctiva morphology	ORPHA:797
Ileal Neuroendocrine Tumor	Weight loss	ORPHA:100078
Primary Sclerosing Cholangitis	Weight loss	ORPHA:171
Mowat-Wilson Syndrome	Abnormal hippocampus morphology, Agenesis of corpus callosum	OMIM:235730
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula	ORPHA:93271
C Syndrome	Horseshoe kidney, Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1308
Primary Fanconi Renotubular Syndrome	Weight loss, Growth delay	ORPHA:3337
Sarcoidosis, Susceptibility To, 1	Weight loss, Anorexia	OMIM:181000
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Hirsutism, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Spar...	ORPHA:99889
Multiple Endocrine Neoplasia Type 1	Weight loss, Anorexia	ORPHA:652
Igg4-Related Dacryoadenitis And Sialadenitis	Keratoconjunctivitis sicca, Weight loss	ORPHA:79078
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Dysphagia	OMIM:606170
Igg4-Related Kidney Disease	Weight loss	ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation	Weight loss, Anorexia	OMIM:619381
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Renal dyspl...	OMIM:308205
Pallister-Killian Syndrome	Renal cyst, Hypospadias, Renal dysplasia	OMIM:601803
Pmm2-Cdg	Photoreceptor layer loss on macular OCT, Proteinuria, Abnormal renal tubule morphology, Multiple ...	ORPHA:79318
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr...	OMIM:164210
Goodpasture Syndrome	Weight loss	OMIM:233450

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 Mapt

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 Mapt.

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

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MGI Allele	Allele Type	Produced
Mapt^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Mapt^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Mapt^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Mapt^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

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: Mapt MGI:97180

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Pathology and Tissue Collection

Immunophenotyping

Immunophenotyping

Human diseases caused by Mapt mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data