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Gene: Mapt MGI:97180

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Gene Summary

Name:
microtubule-associated protein tau
Synonyms:
Mtapt,  Tau

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal retina vasculature morphology Mapttm1b(EUCOMM)Hmgu HOM Early adult 8.42×10-14
polycystic kidney Mapttm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased total retina thickness Mapttm1b(EUCOMM)Hmgu HOM Early adult 5.14×10-07
persistence of hyaloid vascular system Mapttm1b(EUCOMM)Hmgu HOM Early adult 1.45×10-10
decreased grip strength Mapttm1b(EUCOMM)Hmgu HOM Early adult 1.47×10-05
abnormal retina blood vessel morphology Mapttm1b(EUCOMM)Hmgu HOM Early adult 8.42×10-14
increased fluid intake Mapttm1b(EUCOMM)Hmgu HOM   Early adult 4.45×10-05
decreased exploration in new environment Mapttm1b(EUCOMM)Hmgu HOM Early adult 3.68×10-10

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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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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Semantic Dementia
Dementia ORPHA:100069
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:600274
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... ORPHA:100070
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor function, Fasc... ORPHA:275864
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... ORPHA:240103
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degeneration, A... OMIM:601104
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Spastic dys... ORPHA:240094
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor... ORPHA:240085
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome
Deficit in phonologic short-term memory, Mental deterioration ORPHA:240112
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia, Short stepped ... OMIM:168600

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb spasticity, Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the... 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
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet... OMIM:617892
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Uppe... OMIM:612577
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... OMIM:253400
Cataract-Ataxia-Deafness-Retardation Syndrome
Distal sensory impairment, Short stature, Ataxia, Developmental cataract OMIM:212710
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity OMIM:611895
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations, Proximal ... 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
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par... OMIM:607641
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... OMIM:105400
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... OMIM:253550
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Nephronophthisis 14
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:618093
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Fasciculations, Abnorm... ORPHA:65684
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness, Fasciculations OMIM:619141
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity OMIM:614808
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy OMIM:105500
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Spasticity, Astrocytosis, U... ORPHA:225154
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Short stature, Babinski sign, Developmental cataract, Growth delay, Cogwheel rigidity, Hypertonia... OMIM:618284
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Abnor... ORPHA:247604
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... OMIM:616437
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... OMIM:608636
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Dysequilibrium Syndrome
Cerebral palsy, Cataract, Short stature, Ataxia, Gait disturbance ORPHA:1766
Spastic Paraparesis-Deafness Syndrome
Cataract, Short stature, Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbanc... ORPHA:2815
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Hand tremor, Proximal amyotrophy, Degeneration of anterior horn cells, Tetra... OMIM:604484
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Slurred speech, Hypertonia, Impaired social interactions, Spasticity OMIM:618103
Hypertrophic Neuropathy And Cataract
Cataract, Distal sensory impairment OMIM:239900
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigabl... ORPHA:803
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity OMIM:612069
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,... OMIM:608627
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Spastic Paraparesis And Deafness
Tremor, Cataract, Short stature, Spastic paraparesis OMIM:312910
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... OMIM:205100
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
N-Acetylaspartate Deficiency
Broad-based gait, Short stature, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal r... OMIM:614063
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Urocanase Deficiency
Broad-based gait, Short stature, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ata... OMIM:276880
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Spinal muscular atrophy, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, D... OMIM:607596
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ... OMIM:619150
Bardet-Biedl Syndrome 10
Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy, Renal cyst OMIM:615987
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
Senior-Loken Syndrome 4
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Rod-cone dystrophy OMIM:606996
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... ORPHA:412066
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetria, Gait ataxia... ORPHA:101108
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Cognitive impair... OMIM:615993
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Babinski sign, Knee flexion contracture, Poor fine motor coordination,... ORPHA:320370
Xeroderma Pigmentosum, Complementation Group G
Cataract, Ataxia, Small for gestational age, Tremor, Growth delay, Spasticity OMIM:278780
Intellectual Developmental Disorder, Autosomal Recessive 58
Short stature, Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behav... OMIM:617270
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu... ORPHA:204
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Inco... OMIM:302800
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Impaired social i... OMIM:611092
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Astr... ORPHA:282166
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Neurogenic bladder, Substantia nigra ... ORPHA:276244
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Decreased compound muscle act... OMIM:301830
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Paraparesis, Upper limb muscle weakness, Distal amyotrophy, ... OMIM:302802
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Intrauterine growth r... OMIM:620270
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Semantic Dementia
Dementia ORPHA:100069
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Para... OMIM:615157
Alexander Disease Type I
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Dysphagia, Palatal tremor, Failure to thrive ORPHA:363717
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Ataxia, Intention tremor OMIM:190200
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations OMIM:613435
Sandhoff Disease, Adult Form
Dystonia, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dysphagia, Spasticity ORPHA:309169
Hanac Syndrome
Retinal vascular tortuosity, Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... ORPHA:95434
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia ORPHA:98934
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:209850
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:607373
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A... ORPHA:52430
Christianson Syndrome
Dystonia, Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Abnormal repe... ORPHA:85278
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Myositis, Parkinsonism, Fatigable weakness of skeletal muscles, Fa... ORPHA:1320
Hereditary Geniospasm
Abnormal social behavior, Chin myoclonus, Intention tremor ORPHA:53372
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy, Abnormal nerve conductio... ORPHA:99014
Meckel Syndrome 13
Retinopathy, Polycystic kidney dysplasia OMIM:617562
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... ORPHA:216873
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polydipsia, Macular atrophy, Po... OMIM:615994
Moynahan Syndrome
Sparse hair, Alopecia, Short stature, Cachexia ORPHA:2574
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Short stature, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Ab... OMIM:617862
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Aggressive behavior, Tremor, Myoclonus, Dysphagia, Iris hypopigmentation ORPHA:97229
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:600274
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Astrocytosis, Myoclonus, Neuronal loss in central nervous system, Cerebr... OMIM:600795
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... ORPHA:35689
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Clonus, Parkinsonism, Cachexia, Head tit... ORPHA:300605
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... OMIM:607225
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Impai... ORPHA:251282
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Growth delay, Hypertonia, Hy... OMIM:619738
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Neurogenic bladder, Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Cerebral ... OMIM:615911
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive OMIM:619651
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Chorea, Remitting, With Nystagmus And Cataract
Chorea, Cataract OMIM:601372
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Chorea, Benign Familial
Chorea OMIM:215450
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... ORPHA:600
Cataract-Ataxia-Deafness Syndrome
Short stature, Ataxia, Tremor, Developmental cataract, Hypertonia ORPHA:1368
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Optic Atrophy 3, Autosomal Dominant
Tremor, Cataract, Abnormality of extrapyramidal motor function OMIM:165300
Bardet-Biedl Syndrome 9
Renal insufficiency, Bone spicule pigmentation of the retina, Polydipsia, Rod-cone dystrophy, Pol... OMIM:615986
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Ataxia, Optic atrophy, Degeneration of anterior horn cells, Tongue fasci... ORPHA:2254
X-Linked Creatine Transporter Deficiency
Hyperactivity, Short stature, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia, Self-mut... ORPHA:52503
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability... ORPHA:3095
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Tremor, Astigmatism, Gait disturbance, Myoclonus, Retrocollis, Dyston... OMIM:617284
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Self-injurious behavior, Impaired social interactions, ... OMIM:617820
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Cataract 11, Multiple Types
Hypertonia, Chorea, Cataract, Developmental cataract OMIM:610623
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... ORPHA:248111
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Growth delay, Choreoathetosis, Dystonia, Ocul... OMIM:612716
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... ORPHA:98811
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Hsd10 Disease
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclo... ORPHA:391417
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... ORPHA:100070
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior OMIM:617171
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Weight loss OMIM:613662
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Cataract, Short stature, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal at... OMIM:224050
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Rett Syndrome
Dystonia, Short stature, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Spasticity... OMIM:312750
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Weight loss, Failure to thrive, Cachexia, Gait ataxia OMIM:612075
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... OMIM:616269
Lichtenstein-Knorr Syndrome
Ataxia, Short stature, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor OMIM:616291
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Dist... OMIM:611067
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, In... OMIM:302500
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Bardet-Biedl Syndrome 4
Renal cyst, Rod-cone dystrophy, Abnormality of the kidney, Retinal degeneration OMIM:615982
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Myelopathy, Htlv-1-Associated
Myelopathy, Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Foxg1 Syndrome
Dystonia, Short stature, Inability to walk, Choreoathetosis, Severe postnatal growth retardation,... ORPHA:561854
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasti... OMIM:615924
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... OMIM:248900
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Flynn-Aird Syndrome
Alopecia, Cataract, Ataxia, Cachexia, Impaired pain sensation ORPHA:2047
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Huntington Disease
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums... ORPHA:399
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract, Small for gestational age, Short stature, Hirsutism ORPHA:85288
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction ORPHA:101005
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve conduction velocity, Denervatio... OMIM:604320
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Cataract, Hand tremor, Spastic dysarthria, Progressive spastic paraplegia ORPHA:401830
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Senior-Loken Syndrome 1
Renal insufficiency, Retinal dystrophy, Polyuria, Thickening of the tubular basement membrane, Im... OMIM:266900
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... OMIM:215470
Peroxisome Biogenesis Disorder 8B
Lower limb spasticity, Failure to thrive, Cataract, Ataxia, Clonus, Rigidity, Dysesthesia, Babins... OMIM:614877
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... OMIM:617225
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor function, Fasc... ORPHA:275864
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... OMIM:619028
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... OMIM:619468
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Joubert Syndrome 20
Retinopathy, Self-mutilation, Renal cyst, Aggressive behavior OMIM:614970
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Joubert Syndrome 16
Coloboma, Retinal dystrophy, Renal cyst, Nephronophthisis OMIM:614465
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cataract, Babinski sign, Spastic paraplegia,... OMIM:614409
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Pelizaeus-Merzbacher Disease
Short stature, Ataxia, Cachexia, Failure to thrive in infancy, Choreoathetosis, Gait disturbance,... ORPHA:702
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Short stature, Generalized hirsutism, Ataxia ORPHA:1933
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Trun... OMIM:610185
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, Tr... ORPHA:101077
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up... OMIM:613672
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia... OMIM:213200
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor OMIM:606438
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Frontal upsweep of hair, Spasticity OMIM:300983
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... ORPHA:210571
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu... OMIM:607483
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Pontocere... OMIM:617854
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Short stature, Cachexia ORPHA:1389
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Ataxia, Paraparesis, Optic atrophy, Anemia, Leukopenia, Choreoathetosis, Tetra... ORPHA:27
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
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
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... ORPHA:397946
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Isaacs Syndrome
Weight loss, Fasciculations, Distal sensory impairment ORPHA:84142
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... ORPHA:240103
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... ORPHA:254343
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Short stature, Shyness, Overweight, Babinski sign, Spastic dysarthria, Difficulty ... ORPHA:280763
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Hand tremor, Gait ataxia, Limb ataxia, Gait disturbance, D... ORPHA:98764
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Severe short stature, Cataract, Cachexia, Growth delay, ... ORPHA:3242
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavi... OMIM:613670
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dysphagia OMIM:128235
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... OMIM:619470
Central Diabetes Insipidus
Depression, Polydipsia, Nocturia, Anorexia ORPHA:178029
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Gait ataxia, Dysphagia, Cogwheel rigidity, Progressive cerebellar a... OMIM:607346
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Distal lower limb amyotrophy, Corpus callosum atrophy, Babinski sign, Optic a... OMIM:616680
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Arachnodactyly, Rocker bottom foot, Flexion contracture, Acute infantile s... OMIM:271225
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Polymicrogyria, Simplified gyral pattern, Abnorm... OMIM:604317
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia, Loss of ambulation OMIM:617916
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia OMIM:618951
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Spastic tetraplegia, Self-injurious behavior, Hypertonia, Intrauterine growth retardation, Abnorm... OMIM:615282
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Short stature, Ataxia, Small for gestational age, Failure to thriv... OMIM:614104
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Short stature, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Self-... OMIM:617695
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria OMIM:222100
Cronkhite-Canada Syndrome
Alopecia, Cataract, Anorexia, Cachexia, Dystrophic toenail, Patchy alopecia, Dystrophic fingernai... ORPHA:2930
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
4H Leukodystrophy
Cataract, Short stature, Ataxia, Dystonia, Tremor, Dysphagia, Dysmetria, Progressive gait ataxia,... ORPHA:289494
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... OMIM:300100
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Slurred speech, Tortuosity of conjunctival vessels, Dysmetria, Limb ataxia, Ankle clonu... ORPHA:284289
Hereditary Central Diabetes Insipidus
Irritability, Polydipsia ORPHA:30925
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb amyotrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tr... ORPHA:444099
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Rocker bottom foot, Paucity of a... OMIM:611890
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykinesia, Limb dystonia, C... ORPHA:71517
Spastic Paraplegia 9B, Autosomal Recessive
Cataract, Short stature, Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sen... OMIM:616586
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... ORPHA:284324
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract, Difficulty walking, Spasticity, Failure to thrive, Abnormal repetitive mannerisms OMIM:617393
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia OMIM:261630
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Hy... OMIM:617435
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Cataract, Postural tremor, Impaired distal proprioception, Babinski sign, ... OMIM:270800
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Tremor, Flexion contracture, Hepatosplenomegaly, Clumsine... ORPHA:2590
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clum... ORPHA:43
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Resting tremor, Short stature, Parkinsonism, Anorexia, Aggr... ORPHA:3077
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Gliosis, Myoclonus, Apraxia, Abnormal upper mot... OMIM:221770
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weig... OMIM:137440
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... OMIM:618917
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait OMIM:618387
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... OMIM:300055
Developmental Delay And Seizures With Or Without Movement Abnormalities
Short stature, Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... OMIM:618718
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal motor nerve conduction velocity,... ORPHA:2912
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Abnormal peripheral nervous system synaptic transmission, Facial palsy, General... ORPHA:353327
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Dysphagia,... OMIM:616795
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Orthostatic hypotension, Spastic paraplegia, Tetraparesis, Abnormal upper mot... OMIM:263570
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Short stature, Ataxia, Abnormal pyramidal sign, Dysmetria, Microcornea, Long eyelashes,... ORPHA:48431
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Spinocerebellar Ataxia, Autosomal Recessive 13
Short stature, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia... OMIM:614831
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... OMIM:606159
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... ORPHA:157941
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Ankle clonus, Progressi... ORPHA:506353
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Cataract, Short stature, Small for gestational age, Decreased body weight OMIM:618392
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disi... OMIM:168605
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Intrauterine growth retard... OMIM:616801
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia OMIM:617830
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy, Ulnar deviation of the... ORPHA:157954
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bra... OMIM:261640
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Spastic paraparesis, ... OMIM:613647
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
19Q13.11 Microdeletion Syndrome
Cataract, Supernumerary nipple, Cachexia, Fine hair, Growth delay, Microcornea, Sparse or absent ... ORPHA:217346
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Astrocytosis OMIM:611087
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... ORPHA:53351
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cataract, Anorexia, Cachexia, Paresthesia, Nail dystrophy OMIM:175500
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spastic Paraplegia 9A, Autosomal Dominant
Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hoffmann sign, Babinski sign, Spa... OMIM:601162
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... ORPHA:309246
Arima Syndrome
Retinal dystrophy, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney disease, Hematuri... OMIM:243910
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Agenesis of corpus callosum ORPHA:85179
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Mcdonough Syndrome
Synophrys, Short stature, Cachexia ORPHA:2471
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... OMIM:609270
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Myo... OMIM:614487
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Premature graying of hair, Hypertonia, Spasti... ORPHA:33445
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Posterior subcapsular cataract, Short stature, Ataxia OMIM:300619
Cerebrotendinous Xanthomatosis
Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal femur morpho... ORPHA:909
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Ulnar deviation of the hand, Flexion contracture, Babi... OMIM:275900
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Neurodegeneration, Spastic parapa... OMIM:615643
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic m... ORPHA:93958
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait disturbance, Impaired social in... ORPHA:544254
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Alexander Disease Type Ii
Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticity, Abnormal autonomic nervous system ph... ORPHA:363722
Spinocerebellar Ataxia Type 40
Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atrophy, Spastic paraparesis, Intenti... ORPHA:423275
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Short stature, Growth delay, Microcornea, Progressive spasticity ORPHA:2528
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... ORPHA:79263
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Limb myoclonus, Truncal ataxia, Hand tremor, Dysmetria, Limb ataxia, Tongu... ORPHA:276198
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Ataxia, Parkinsonism, Atrophy of the spinal cord, Paraparesis, Generaliz... ORPHA:2822
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... ORPHA:228360
Cystinosis
Renal insufficiency, Proteinuria, Abnormal repetitive mannerisms, Renal tubular dysfunction, Amin... ORPHA:213
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Bradykinesia... ORPHA:329284
Autosomal Recessive Spastic Paraplegia Type 46
Lower limb spasticity, Broad-based gait, Cataract, Ataxia, Babinski sign, Abnormal pyramidal sign... ORPHA:320391
Galactose Epimerase Deficiency
Growth delay, Cataract, Weight loss ORPHA:79238
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal arteriolar tortuosity, Retinal hemorrhage, Renal cyst, Hematuria OMIM:611773
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Cataract, Babinski sign, Pseudobulbar paralysis, Gait disturbance, Dystoni... ORPHA:101006
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Cachexia, Spastic tetraplegia, Self-injurious behavior, Hyperesthesia, Severe fail... ORPHA:371364
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Apparent Mineralocorticoid Excess
Renal insufficiency, Hypertensive retinopathy, Abnormal urine sodium concentration, Nephrocalcino... ORPHA:320
Hijazi-Reis Syndrome
Lower limb spasticity, Postnatal growth retardation, Ankle clonus, Astigmatism, Gait disturbance,... OMIM:301094
Posttransplant Acute Limbic Encephalitis
Confusion, Abnormal hippocampus morphology, Depression, Cognitive impairment, Memory impairment ORPHA:163921
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Band Heterotopia
Lateral ventricle dilatation, Hypoplastic hippocampus, Agenesis of corpus callosum, Hydrocephalus OMIM:600348
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Depression, Cognitive impairment, Attenti... ORPHA:3375
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Severe short stature, Cataract ORPHA:2278
2Q23.1 Microdeletion Syndrome
Hyperactivity, Short stature, Ataxia, Highly arched eyebrow, Abnormal repetitive mannerisms, Syno... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Lamb-Shaffer Syndrome
Hyperactivity, Mild postnatal growth retardation, Ataxia, Abnormal temper tantrums, Abnormal soci... ORPHA:530983
Behr Syndrome
Ataxia, Tremor, Babinski sign, Unsteady gait, Truncal ataxia, Dysmetria, Gait disturbance, Progre... OMIM:210000
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Babinski sign, Dysmetria, Distal sensory impairment, Spasticity, Subcapsular ca... OMIM:612674
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Short stature, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, De... OMIM:607694
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Astigmatism, Hypertonia, Attention deficit hyperactivity disor... OMIM:619556
Developmental And Epileptic Encephalopathy 60
Hippocampal malrotation OMIM:617929
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Spasticity, Cataract, Childhood-onset truncal obesity OMIM:610156
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... OMIM:263200
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst OMIM:605231
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degeneration, A... OMIM:601104
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dysarthria, Distal amy... ORPHA:313772
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Pulmonary Blastoma
Weight loss ORPHA:64741
Papillorenal Syndrome
Retinal detachment, Multicystic kidney dysplasia, Renal malrotation, Proteinuria, Morning glory a... OMIM:120330
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Martsolf Syndrome 2
Cataract, Short stature, Spastic diplegia, Developmental cataract, Decreased body weight OMIM:619420
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Short stature, Impulsivity, Abnormality of coordination, Tremor, Involuntary movements, R... ORPHA:442835
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Leukoencephalopathy With Vanishing White Matter 2
Spasticity, Cataract, Unsteady gait OMIM:620312
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Bruxism, Growth delay, Choreoathetosis, Dysphagia, Self-mutilation OMIM:619422
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Broad-based gait, Short stature, Abnormal hair pattern, Aggressive behavior, Tremo... ORPHA:85293
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns... OMIM:183090
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis, Tremor ORPHA:66633
X-Linked Charcot-Marie-Tooth Disease Type 2
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Optic disc pallor, Tibia... ORPHA:101076
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Classic Phenylketonuria
Hypopigmentation of hair, Cataract, Tremor, Paraplegia, Growth delay, Self-injurious behavior, Hy... ORPHA:79254
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... ORPHA:90117
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Spastic dys... ORPHA:240094
Rhyns Syndrome
Multicystic kidney dysplasia, Rod-cone dystrophy, Nephronophthisis ORPHA:140976
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... ORPHA:84081
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Action tremor, Rigidity, Splenomegaly, Astrocytosis, Bradykinesia, Poor fine motor coordination, ... ORPHA:309854
Tuberous Sclerosis Complex
Renal insufficiency, Hyperactivity, Retinal astrocytic hamartoma, Abnormality of the kidney, Aggr... ORPHA:805
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Short stature, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxi... ORPHA:1170
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal eating behavior, Trem... ORPHA:98794
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Femoral-Facial Syndrome
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:1988
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Hypertonia, Agitation, Disinhibition, Myoclonus, Apraxia, Oculomotor apraxi... ORPHA:1020
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental... OMIM:620141
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor... ORPHA:240085
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... OMIM:253310
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Impaired v... ORPHA:137898
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Growth delay, Bra... ORPHA:70594
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Rigidity, Head titubation, Babin... OMIM:608804
Leukodystrophy, Hypomyelinating, 6
Short stature, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Intestinal Dysmotility Syndrome
Failure to thrive, Cataract, Weight loss OMIM:620045
Tetrasomy 12P
Sparse hair, Cachexia, Short stature, Sparse eyebrow ORPHA:884
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Abnormal repetiti... OMIM:619092
Erythrokeratodermia Variabilis
Alopecia, Cataract, Short stature, Corneal opacity, Abnormal hair morphology, Weight loss, Genera... ORPHA:317
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... OMIM:619317
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Arachnoid Cyst
Facial palsy, Spinal cord compression, Paraparesis, Spinal arachnoid cyst, Cranial nerve compress... ORPHA:2356
Autosomal Recessive Spastic Paraplegia Type 5A
Impaired vibratory sensation, Lower limb spasticity, Cataract, Babinski sign, Spastic paraplegia,... ORPHA:100986
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Peroxisome Biogenesis Disorder 2A (Zellweger)
Pigmentary retinopathy, Aminoaciduria, Optic nerve dysplasia, Polycystic kidney dysplasia OMIM:214110
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum... ORPHA:206443
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Rigidity, Anisocoria, Pseudoexfoliation, Pigment deposition i... OMIM:177650
Flynn-Aird Syndrome
Alopecia of scalp, Alopecia, Cataract, Ataxia OMIM:136300
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Cachexia ORPHA:42
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, ... OMIM:208920
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Astrocytosis, Macroglos... ORPHA:258
Mitochondrial Neurogastrointestinal Encephalomyopathy
Weight loss, Paresthesia, Cachexia, Dysphagia ORPHA:298
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Woolly Hair
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... ORPHA:170
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Irritability, Polydipsia, Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Irritability, Polydipsia, Megacystis, Polyuria OMIM:304800
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Tuberculosis
Weight loss ORPHA:3389
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Short stature, Writer's cramp, Ataxia, Dystonia, Tremor, ... OMIM:312080
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome
Deficit in phonologic short-term memory, Mental deterioration ORPHA:240112
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Igg4-Related Pachymeningitis
Eosinophilia, Abnormal spinal dura mater morphology, Spinal cord compression, Paraparesis, Abnorm... ORPHA:449427
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbanc... ORPHA:216866
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive ORPHA:477673
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, Babinski sign, Cachexia, Dystonia OMIM:618186
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus, Dysphagia OMIM:619780
Dystonia-Deafness Syndrome 1
Generalized dystonia, Cataract, Oculogyric crisis, Small for gestational age, Leg dystonia, Pseud... OMIM:607371
Aredyld Syndrome
Short stature, Cachexia, Intrauterine growth retardation, Sparse body hair, Aplasia/Hypoplasia of... ORPHA:1133
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Pigmentary ... ORPHA:411629
Holocarboxylase Synthetase Deficiency
Alopecia, Ataxia, Anorexia, Keratoconjunctivitis, Growth delay, Weight loss ORPHA:79242
Infantile Krabbe Disease
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Myoclonus, Decereb... ORPHA:206436
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cerebral palsy, Short stature, Small for gestational age, Highly arched eyebrow, R... ORPHA:352490
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Reduced amygdala volume, Hypoplastic hippocampus, Partial agenesis of the corpus ca... OMIM:619517
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Slender build, Chorea, Myoclonus, Attention deficit hyperactivity ... OMIM:617600
Baralle-Macken Syndrome
Cataract, Inability to walk, Obesity, Dystonia, Spasticity, Hirsutism OMIM:619255
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Spastic paraparesis ORPHA:67047
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Cataract, Impaired distal proprioception, Hand tremor, Distal sensory impairment, Tongue fascicul... OMIM:162400
Usher Syndrome Type 3
Cataract, Ataxia, Astigmatism, Iris hypopigmentation ORPHA:231183
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Combined Oxidative Phosphorylation Deficiency 13
Growth delay, Cataract, Choreoathetosis, Dystonia OMIM:614932
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... OMIM:113610
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Decreased nerve conduction velocity, Poor coordination, Abnormal pyramidal sign, Spastic ... OMIM:238970
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscle atrophy, Babinski sign, Spastic p... OMIM:500013
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
Joubert Syndrome 39
Retinal dystrophy, Polycystic kidney dysplasia OMIM:619562
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Mevalonic Aciduria
Cataract, Short stature, Ataxia ORPHA:29
Tonne-Kalscheuer Syndrome
Broad-based gait, Short stature, Aggressive behavior, Shyness, Tremor, Blue irides, Fine hair, Gr... OMIM:300978
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Growth ... OMIM:614381
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Ataxia-Telangiectasia
Hypopigmentation of hair, Short stature, Ataxia, Tremor, Premature graying of hair, Gait disturba... ORPHA:100
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myo... ORPHA:363400
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Ataxia, Proportionate short stature, Spastic tetraparesis, Babinski sign, W... ORPHA:3208
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Senior-Loken Syndrome
Cataract, Short stature, Ataxia ORPHA:3156
Farber Disease
Skeletal muscle atrophy, Thrombocytopenia, Short toe, Flexion contracture, Paraparesis, Hepatospl... ORPHA:333
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Maternal Uniparental Disomy Of Chromosome 1
Cataract, Ataxia, Short stature, Growth delay, Progressive spasticity, Failure to thrive ORPHA:251009
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment, Dysphagia OMIM:607734
Laurence-Moon Syndrome
Cataract, Short stature, Ataxia, Obesity, Iris coloboma ORPHA:2377
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Brittle hair, Cataract, Sparse eyelashes, Sparse eyebr... OMIM:617988
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neurodegenera... OMIM:300894
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Progressive spasticity, Dysphagia, Failure to thrive, Abnormal re... DECIPHER:45
Progressive Supranuclear Palsy
Tremor, Rigidity, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Gliosis, Neuronal ... ORPHA:683
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormal hair morphology, Cachexia, Weight loss ORPHA:1979
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Lower limb spasticity, Optic neuropathy, Tibialis muscle weakness, Babin... ORPHA:320375
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Saccharopinuria
Short stature, Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, Pa... ORPHA:79124
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Whipple Disease
Ataxia, Anorexia, Cachexia, Abnormal pyramidal sign, Myoclonus, Polydipsia ORPHA:3452
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Bilateral Generalized Polymicrogyria
Hypoplastic hippocampus, Oral-pharyngeal dysphagia, Abnormal hippocampus morphology, Self-injurio... ORPHA:208447
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Short Stature, Developmental Delay, And Congenital Heart Defects
Proportionate short stature, Developmental cataract, Self-injurious behavior, Attention deficit h... OMIM:617044
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance OMIM:603472
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Impaired social interactions, Attention deficit hyper... OMIM:610042
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... ORPHA:227510
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dys... OMIM:619121
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Ataxia, Parkinsonis... OMIM:614298
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia, Loss of ambulation, Intrauterine growth retardation OMIM:615010
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior... ORPHA:444002
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Postnatal growth retardation, Tremor, Synophrys, Spastic diplegia, Obe... ORPHA:480907
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Dystonia, Highly arched eyebrow, Sparse eyebrow, Inability to walk, Chorea, ... OMIM:618004
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, Progressive sp... ORPHA:496756
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Short stature, Aggressive behavior, Synophrys, Abnormal repetitive mannerisms OMIM:615541
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Short stature, Highly arched eyebrow, Aggressive behavior, Tremor, Attention defic... OMIM:618342
Laryngeal Neuroendocrine Tumor
Weight loss, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Classic Galactosemia
Speech apraxia, Cataract, Ataxia, Incoordination, Postural tremor, Dystonia, Clumsiness, Gait dis... ORPHA:79239
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast... OMIM:203700
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gait disturbanc... ORPHA:457240
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... ORPHA:2237
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... ORPHA:26791
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu... ORPHA:223
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Aggressive behavior, Tongue thrusting, Polycystic kidney dysplasia, Br... OMIM:606232
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Corpus callosum atrophy, Abnormal pyramidal sign, Spastic paraparesis, J... OMIM:260600
Cockayne Syndrome
Dry hair, Progressive gait ataxia, Lentiglobus, Hypertonia, Intention tremor, Ataxia, Abnormal co... ORPHA:191
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Paraparesis, Femoral bowing, Tetraparesis, Osteosclerosis ... OMIM:602080
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Proteinuria, Progressive neurologic deterioration, Abnormal retinal vas... ORPHA:247691
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Clonus, Spastic tetraparesis, Optic atrophy, Cerebral atrophy, Bilateral tali... ORPHA:544469
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608049
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... ORPHA:36387
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... ORPHA:314588
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Paraplegia, Weight loss, Difficulty walking, Impaired oropharyngeal sw... ORPHA:98897
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Optic nerve dysplasia, Optic atrophy, Renal cyst, Pigmentary retinopathy, Polycystic... OMIM:614866
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte... ORPHA:199343
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Tremor, Growth delay, Intrauterine growth retardation, Failure to thrive OMIM:617744
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Severe temper tantrums, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athe... OMIM:617710
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Paraparesis, Flexion contracture, Oromotor apraxia, Spastic tetraplegia, D... ORPHA:98889
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly... OMIM:608836
Developmental And Epileptic Encephalopathy 46
Tremor, Limb hypertonia, Failure to thrive, Dysphagia OMIM:617162
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Failure to thrive, Short stature, Ataxia, Aggressive behavior, Self-injurious behavio... OMIM:300986
Microcephaly 10, Primary, Autosomal Recessive
Cataract, Small for gestational age, Hypertonia, Intrauterine growth retardation, Spasticity OMIM:615095
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Spasticity, Short stature, Ataxia ORPHA:220295
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Proximal 16P11.2 Microduplication Syndrome
Sparse eyelashes, Short stature, Sparse eyebrow, Tremor, Attention deficit hyperactivity disorder... ORPHA:370079
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Dysgenesis of the hippocampus ORPHA:238722
Angelman Syndrome
Keratoconus, Hyperactivity, Fair hair, Ataxia, Broad-based gait, Aggressive behavior, Tremor, Ina... ORPHA:72
Cystinosis, Nephropathic
Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syn... OMIM:219800
Myopathy, Mitochondrial, And Ataxia
Short stature, Thick hair, Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Growth dela... OMIM:617675
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Ste... OMIM:616505
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Growth delay, Choreoathetosis, Gait dist... ORPHA:765
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Hypoplasia of penis, Polydipsia, Optic nerve hypoplasia ORPHA:3157
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Wolman Disease
Growth delay, Cachexia ORPHA:75233
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Abnor... OMIM:606002
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Wagr Syndrome
Cataract, Short stature, Obesity, Aplasia/Hypoplasia of the iris, Dysfunction of lateral corticos... ORPHA:893
Familial Cold Urticaria
Polydipsia ORPHA:47045
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Postnatal growth retardation, Poor coordination, Poor fine mo... OMIM:620242
Galloway-Mowat Syndrome 6
Short stature, Growth delay, Decreased body weight, Intrauterine growth retardation, Abnormal rep... OMIM:618347
Joubert Syndrome 7
Retinal dystrophy, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Obesity, Int... ORPHA:813
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... OMIM:619580
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Sialidosis Type 2
Tremor, Short stature, Ataxia, Corneal opacity ORPHA:87876
Xfe Progeroid Syndrome
Severe short stature, Cachexia, Poor coordination, Corneal scarring, Failure to thrive OMIM:610965
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... ORPHA:573
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Xeroderma Pigmentosum, Complementation Group F
Short stature, Ataxia, Tremor, Astigmatism, Decreased body weight OMIM:278760
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Growth delay, Choreoathetosis, Abnorma... OMIM:615673
Intellectual Developmental Disorder, Autosomal Dominant 65
Aggressive behavior, Dysgenesis of the hippocampus, Noncommunicating hydrocephalus, Compulsive be... OMIM:619320
Marchiafava-Bignami Disease
Confusion, Urinary incontinence, Aggressive behavior, Depression, Dementia, Addictive alcohol use... ORPHA:221074
Wolfram Syndrome
Recurrent urinary tract infections, Dysuria, Optic atrophy, Abnormality of the urinary system, De... ORPHA:3463
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Short stature, Highly arched eyebrow, Aggressive behavior, Obe... OMIM:600430
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Retinal coloboma, Polycystic kidney dysplasia OMIM:616546
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Parkinsonism, Impulsivity, Akinesia, Rigidity, Weight loss, Bradykinesi... ORPHA:411602
Neurofibromatosis, Familial Spinal
Paraparesis, Lower limb muscle weakness OMIM:162210
Combined Oxidative Phosphorylation Defect Type 27
Hypoplastic hippocampus, Dysphagia ORPHA:477774
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Rod-cone dystro... OMIM:618161
Pediatric-Onset Graves Disease
Hyperactivity, Irritability, Emotional lability, Polydipsia, Polyphagia ORPHA:525731
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Dystonia, Short stature, Aggressive behavior, Hypertonia, Gait ... OMIM:300352
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... ORPHA:206594
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Postnatal growth retardation, Abnormal repetitive mannerisms, Thick eyebrow, Speech apraxia ORPHA:529965
Acute Transverse Myelitis
Orthostatic hypotension, Abscess, Paraparesis, Babinski sign, Paraplegia, Upper limb muscle weakn... ORPHA:139417
Juvenile Sialidosis Type 2
Lower limb spasticity, Cataract, Corneal opacity, Ataxia, Dysmetria, Dysphagia, Myoclonus, Genera... ORPHA:93399
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Short stature, Small for gestational age, Tremor, Truncal obesity, Hyp... OMIM:300957
Infantile Refsum Disease
Cataract, Short stature, Ataxia, Spasticity, Failure to thrive ORPHA:772
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Postnatal g... OMIM:300912
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Neurogenic bladder, Optic disc pallor, Splenomegaly, Flexion contracture... ORPHA:90324
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Spa... OMIM:301029
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Frontal balding, Tremor, Unsteady gait, Abnormal pyramidal sign, Impaired ... ORPHA:1942
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Clonus, ... ORPHA:649
Metachromatic Leukodystrophy, Late Infantile Form
Babinski sign, Spasticity, Clumsiness, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Decere... ORPHA:309256
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polydipsia, Polyuria OMIM:613677
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Smith-Magenis Syndrome
Hyperactivity, Short stature, Impaired pain sensation, Synophrys, Self hugging, Increased body we... OMIM:182290
Sialidosis Type 1
Cataract, Short stature, Ataxia, Corneal opacity, Tremor, Slurred speech, Gait disturbance, Myocl... ORPHA:812
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cataract, Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia ORPHA:369847
Classic Hodgkin Lymphoma
Ataxia, Anorexia, Weight loss ORPHA:391
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Fatal Familial Insomnia
Weight loss, Ataxia, Myoclonus, Dysphagia OMIM:600072
Microphthalmia, Syndromic 11
Agenesis of corpus callosum, Hippocampal malrotation OMIM:614402
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Oculodentodigital Dysplasia
Neurogenic bladder, Ataxia, Paraparesis, 4-5 finger syndactyly, Spasticity, Joint contracture of ... OMIM:164200
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Cataract, Ataxia, Impaired distal proprioception, Hypoesthesia, Babinski sign, ... OMIM:607459
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral atresia, Polycyst... OMIM:208540
Pilarowski-Bjornsson Syndrome
Speech apraxia, Postnatal growth retardation, Long eyelashes, Abnormal repetitive mannerisms, Bro... OMIM:617682
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Bardet-Biedl Syndrome 12
Hydroureter, Cystic renal dysplasia, Cognitive impairment, Rod-cone dystrophy, Hydronephrosis OMIM:615989
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Ataxia, Truncal titubation, Impaired vibration sensation in the lower limbs, Impaired p... ORPHA:88628
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Decreased body weight, Cataract, Short stature, Cachexia, Ectopia le... ORPHA:800
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Cataract, Ataxia, Impaired vibration sensation in the lower limbs, Impaired pro... OMIM:609033
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Absent hippocampal commissure, Agenesis of corpus callosum OMIM:617542
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Ataxia, Rigidity, Repetitive compulsive behavior, Chor... OMIM:300260
Trisomy 18
Cataract, Short stature, Cachexia, Growth delay, Microcornea, Hypertonia, Intrauterine growth ret... ORPHA:3380
Cri-Du-Chat Syndrome
Hyperactivity, Cataract, Small for gestational age, Aggressive behavior, Growth delay, Premature ... OMIM:123450
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Ataxia, Synophrys, Fine hair, Growth delay, Head tremor, Abnormal repetitive mannerisms OMIM:619428
4Q21 Microdeletion Syndrome
Tremor, Synophrys, Growth delay, Self-injurious behavior, Long eyelashes, Intrauterine growth ret... ORPHA:238750
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity ORPHA:529665
Dentici-Novelli Neurodevelopmental Syndrome
Hypertonia, Inability to walk, Cataract, Abnormal repetitive mannerisms OMIM:619877
Gm1 Gangliosidosis
Generalized dystonia, Corneal opacity, Short stature, Ataxia, Dystonia, Tremor, Unsteady gait, We... ORPHA:354
Foix-Alajouanine Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Distal lower limb amyotrophy, Neurogenic blad... ORPHA:79093
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia OMIM:618060
Floating-Harbor Syndrome
Restlessness, Short attention span, Hypospadias, Renal agenesis, Impulsivity, Aggressive behavior... ORPHA:2044
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Ga... OMIM:615530
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Verheij Syndrome
Renal agenesis, Optic nerve hypoplasia, Renal hypoplasia, Renal cyst, Coloboma OMIM:615583
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Oliguria, Stage 5 chro... ORPHA:731
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small for gestational age, Developmental cataract, Growth delay, Sparse hair, Intrauter... OMIM:610756
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Decreased motor nerv... ORPHA:79139
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Astigmatism, Gait disturbance, Myo... ORPHA:168491
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Agitation, Gait disturbance, Difficulty walking, D... ORPHA:778
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Dysphagia, Slender build OMIM:603041
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Autosomal Dominant Optic Atrophy And Cataract
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Extrapyrami... ORPHA:67036
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Cerebral palsy, Spastic tetraparesis, Paraparesis, Anemia OMIM:620358
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Coach Syndrome 1
Optic disc pallor, Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chron... OMIM:216360
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Waddling gait, Cataract, Short stature, Ataxia, Dystonia, Tremor, Inability to wa... OMIM:615356
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... ORPHA:2388
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Polydi... OMIM:612780
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Spastic parapare... ORPHA:289560
Metachromatic Leukodystrophy, Juvenile Form
Babinski sign, Spasticity, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, Dystonia, F... ORPHA:309263
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Progressive spastic paraparesis, Hoffmann... ORPHA:206448
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Astigmatism, Att... OMIM:619680
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis OMIM:613239
3-Methylglutaconic Aciduria, Type Viib
Cataract, Rhizomelia, Ataxia, Tremor, Opisthotonus, Growth delay, Choreoathetosis, Hyperkinetic m... OMIM:616271
Helix Syndrome
Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia OMIM:617671
Clouston Syndrome
Alopecia, Brittle hair, Cataract, Short stature, Sparse eyelashes, Alopecia totalis, Sparse eyebr... OMIM:129500
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Obesity, Compulsive behaviors, Spa... OMIM:618430
Dravet Syndrome
Short attention span, Impulsivity, Dysgenesis of the hippocampus, Cognitive impairment, Obsessive... ORPHA:33069
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Clumsiness, Weight loss, Kayser-Fleis... ORPHA:905
Lissencephaly Due To Tuba1A Mutation
Hypoplastic hippocampus, Dysgenesis of the hippocampus, Dysplastic corpus callosum, Partial agene... ORPHA:171680
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Dysphagia OMIM:313200
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Corneal opacity, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Growth d... ORPHA:2072
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Atrophy of the spinal cord, Progressive spastic paraparesis, Upper motor neur... ORPHA:329308
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Intrauterine growth retardation, Dysmetria OMIM:615578
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Trisomy 13
Abnormal retinal vascular morphology, Abnormality of the ureter, Optic atrophy, Multiple renal cy... ORPHA:3378
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Dysphagia ORPHA:2198
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypercalciuria ORPHA:251274
Epidermal Nevus Syndrome
Rhabdomyosarcoma, Spinal cord compression, Atrophy of the spinal cord, Progressive spastic parapa... ORPHA:35125
Developmental And Epileptic Encephalopathy 82
Spastic tetraplegia, Cerebral atrophy, Spastic paraparesis OMIM:618721
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Gait imbalance, Impaired s... ORPHA:2828
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Retinal dystrophy, Aggressive behavior, Optic disc coloboma, Re... OMIM:213300
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Abnormal hippocampus morphology, Compulsive behaviors, Attention ... ORPHA:401777
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Highly arched eyebrow, Aggressive behavior, Attention deficit hyperactivity d... OMIM:618825
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Gait ataxia, Difficulty walking, Dystonia, Spasticity, Abnormal repetitive mann... OMIM:617807
Radio-Tartaglia Syndrome
Thick eyebrow, Ataxia, Impulsivity, Aggressive behavior, Highly arched eyebrow, Long eyebrows, Sy... OMIM:619312
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Athetosis, Impaired social interactions, Bruxism, Spasticity,... OMIM:613454
Metachromatic Leukodystrophy, Adult Form
Chorea, Babinski sign, Spasticity, Clumsiness, Progressive spastic quadriplegia, Progressive gait... ORPHA:309271
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Dystonia, Obesity, Choreoathetosis, Impaired social interactions, Attention defic... ORPHA:261197
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... OMIM:618056
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... ORPHA:447753
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Seckel Syndrome
Intrauterine growth retardation, Short stature, Sparse scalp hair, Cachexia ORPHA:808
Joubert Syndrome 14
Morning glory anomaly, Optic atrophy, Renal cyst, Coloboma, Irritability OMIM:614424
Wolfram Syndrome 1
Cataract, Ataxia, Tremor, Growth delay, Dysphagia OMIM:222300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Nephrolithiasis ORPHA:369929
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Short Syndrome
Posterior embryotoxon, Severe short stature, Corneal opacity, Alopecia, Abnormal pupil morphology... ORPHA:3163
Ritscher-Schinzel Syndrome 4
Curly hair, Short stature, Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia... OMIM:619435
Distal Deletion 12Q
Hyperactivity, Ectopic kidney, Self-mutilation, Polycystic kidney dysplasia, Vesicoureteral reflu... ORPHA:96149
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal central motor function, Ataxia, Cerebral palsy, Autoimmune ... ORPHA:760
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Retinal dystrophy, Polycystic kidney dysplasia OMIM:263520
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... ORPHA:99880
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Cataract, Parkinsonism, Impaired distal proprioception, Rigidity, Impaired distal... OMIM:157640
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Gaucher Disease, Type Iii
Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Thrombocytopenia OMIM:231000
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst, Chorioretinal coloboma ORPHA:2031
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia, Short stepped ... OMIM:168600
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Decreased muscle mass, Metatarsus adductus, Short toe, 4... ORPHA:3041
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Remnants of the hyaloid vascular system, Protein... OMIM:609049
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Paraplegia, Agitation, Failure to thrive, Abnormal repetitive mannerisms ORPHA:927
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
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babins... OMIM:234200
22Q11.2 Deletion Syndrome
Hypospadias, Retinal arteriolar tortuosity, Optic atrophy, Renal hypoplasia, Depression, Multiple... ORPHA:567
Rift Valley Fever
Paralysis, Paraparesis, Anemia, Hemiparesis, Decerebrate rigidity, Thrombocytopenia ORPHA:319251
Parathyroid Carcinoma
Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... ORPHA:143
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Hypercalciuria, Aminoaciduria, Polydipsia OMIM:239200
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Incoordination, Supernumerary nipple, Impaired pain sensation, Gait ataxia, Abnormal repetitive m... OMIM:616579
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Ataxia-Telangiectasia
Conjunctival telangiectasia, Dystonia, Short stature, Ataxia, Abnormal hair morphology, Tremor, I... OMIM:208900
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Polydipsia, Nocturia, R... OMIM:263800
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Childhood Absence Epilepsy
Limb myoclonus, Abnormal social behavior, Punding, Attention deficit hyperactivity disorder ORPHA:64280
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Tremor, Inability to walk, Developmental glaucoma, Vocal cord paralysis, Distal sensory... ORPHA:99956
Alternating Hemiplegia Of Childhood
Dystonia, Ataxia, Impulsivity, Aggressive behavior, Anorexia, Oral-pharyngeal dysphagia, Tremor, ... ORPHA:2131
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Short stature, Poliosis, Abnormal eyela... ORPHA:3437
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Short stature, Highly arched eyebrow, Babinski sign, Low anterior hairline, Low posterior hairlin... OMIM:615802
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal hippocampus morphology, Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Short stature, Ataxia, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal ... ORPHA:2479
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Thick eyebrow, Ataxia, Tremor, Inability to walk, Widow's peak, Overweight... OMIM:619229
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst OMIM:610199
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Caroli Disease
Polycystic kidney dysplasia, Anorexia ORPHA:53035
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Short stature, Corneal opacity, Ataxia, Ocular albinism, Abno... ORPHA:2719
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Short stature, Ataxia, White hair, Ocular albinism, Hypertonia, Iris hypopigmentation ORPHA:2720
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Broad-based gait, Synophrys, Coarse hair, Bruxism, Abnormal repetitive mannerisms OMIM:616351
Methanol Poisoning
Addictive alcohol use, Abnormal optic nerve morphology, Confusion ORPHA:31825
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Polydipsia, Long penis, Retinopathy ORPHA:769
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation ORPHA:424
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal deg... OMIM:250410
Sjogren-Larsson Syndrome
Spasticity, Flexion contracture, Spastic paraparesis OMIM:270200
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Ataxia, Optic atrophy, Abnormal pyramidal sign, Upper limb muscle weakne... ORPHA:254930
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium ORPHA:231580
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Autosomal Recessive Spastic Paraplegia Type 20
Speech apraxia, Skeletal muscle atrophy, Abnormal thumb morphology, Abnormal hand morphology, Bab... ORPHA:101000
Bardet-Biedl Syndrome
Pigmentary retinopathy, Hypoplasia of penis, Nephrotic syndrome, Multicystic kidney dysplasia ORPHA:110
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Atrophy of the spinal cord, Optic atrophy, Hemiparesis, Brain atro... ORPHA:395
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Rod-cone dystrophy, Retinal degeneration, Horseshoe kidney ORPHA:166035
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s... OMIM:105210
Wagro Syndrome
Cataract, Corneal opacity, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Impaire... OMIM:612469
Adrenomyeloneuropathy
Atrophy/Degeneration involving the corticospinal tracts, Atrophy of the spinal cord, Abnormal spi... ORPHA:139399
Split Cord Malformation
Neurogenic bladder, Tethered cord, Cervical spina bifida, Talipes cavus equinovarus, Paraparesis,... ORPHA:573278
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Short stature, Anorexia ORPHA:1969
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Alazami Syndrome
Abnormal eating behavior, Postnatal growth retardation, Sparse eyebrow, Abnormal repetitive manne... ORPHA:319671
Hajdu-Cheney Syndrome
Iris coloboma, Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Short stature, Thick hair, Tremor, Dysmetria, Growth delay, Progress... ORPHA:502423
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Hyperlysinemia
Hyperactivity, Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis, Tre... ORPHA:2203
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Chromosome 15Q11.2 Deletion Syndrome
Short stature, Ataxia, Clumsiness, Attention deficit hyperactivity disorder, Impaired social inte... OMIM:615656
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism ORPHA:2221
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Short stature, Aggressive behavior, Postnatal growth retardation, Unsteady gait, H... OMIM:212066
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Camurati-Engelmann Disease
Waddling gait, Ataxia, Cachexia, Anorexia, Delayed puberty, Slender build ORPHA:1328
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Lens coloboma, Self-injurious behavior, Hyperto... OMIM:618914
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Developmental And Epileptic Encephalopathy 99
Hypoplastic hippocampus OMIM:619606
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Rod-cone dystrophy, Optic atrophy, Renal cyst OMIM:601539
Rhabdoid Tumor
Hemiplegia, Cerebral palsy, Weight loss ORPHA:69077
Ogden Syndrome
Global glomerulosclerosis, Irritability, Polycystic kidney dysplasia, Dysphagia, Abnormal repetit... OMIM:300855
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Ataxia, Postnatal growth retardation, Tremor, Abnormal pyramidal sign, Fine hair, ... OMIM:612199
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg ... ORPHA:314647
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Dysmetria, Clu... ORPHA:845
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Postnatal growth retardation, Inability to walk, Delayed early-child... ORPHA:300570
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst... ORPHA:646
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Shyness, Self-injurious behavior, Abnormal temper tantrums, A... ORPHA:449291
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Self-injurious behavior, Compulsive behaviors, At... ORPHA:488618
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cataract, Ataxia, Small for gestational age, Tremor, Growth delay, Intrauterine growth retardatio... OMIM:614052
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Cataract, Tremor, Fasciculations, Intrauterine growth retardation, ... OMIM:620327
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Short stature, Ataxia, Inability to walk, Growth delay, Nuclear cataract, Hypertonia, S... OMIM:608885
Hirschsprung Disease
Short stature, Failure to thrive in infancy, Weight loss ORPHA:388
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Waardenburg Syndrome, Type 4A
Aganglionic megacolon, Ataxia, Spastic paraparesis OMIM:277580
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Severe postnatal growth retardation, Failure to thrive, Anterior cham... ORPHA:85410
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Ataxia, Tremor, Alopecia of scalp, Failure to thrive OMIM:201100
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor, Weight loss ORPHA:99819
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia OMIM:200980
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia... OMIM:249000
Nijmegen Breakage Syndrome
Abnormal hair quantity, Short stature, Cachexia, Abnormal hair morphology, Low anterior hairline,... ORPHA:647
Marfan Syndrome
Flat cornea, Cachexia, Lens luxation, Ectopia lentis, Hypoplasia of the iris, Lens subluxation, A... ORPHA:558
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Trichotillomania
Hair-pulling, Alopecia, Compulsive behaviors OMIM:613229
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Xeroderma Pigmentosum, Complementation Group D
Cataract, Ataxia, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Spastic... OMIM:278730
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Myoclonus, Weight loss OMIM:256700
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms, Impaired social interactions ORPHA:168782
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Synophrys, Gait ataxia, Attention deficit hyperactivity disorder, Co... ORPHA:476126
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Periodic paralysis OMIM:188580
Celiac Disease, Susceptibility To, 1
Alopecia, Short stature, Ataxia, Postnatal growth retardation, Weight loss, Delayed puberty, Fail... OMIM:212750
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Ataxia, Sparse eyebrow, Tetraplegia, Growth delay, Fasciculations, Progressive spastici... ORPHA:496641
Tyrosinemia Type 2
Tremor, Corneal opacity, Ataxia ORPHA:28378
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb dystonia, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Di... ORPHA:572798
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:94080
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Joubert Syndrome 5
Aggressive behavior, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal ... OMIM:610188
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Cataract, Ataxia ORPHA:79095
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Abnormal location of the eyebrow, Ataxia, Repetitive compulsive behavior, Widow's peak, Chorea, S... ORPHA:522077
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Pelizaeus-Merzbacher Disease In Female Carriers
Lower limb spasticity, Neurogenic bladder, Babinski sign, Spastic paraparesis, Hand apraxia ORPHA:280229
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Beta-Ketothiolase Deficiency
Ataxia, Anorexia, Weight loss, Agitation, Extrapyramidal dyskinesia, Oral aversion, Spasticity ORPHA:134
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Synophrys, Hypertonia, Tics, Compulsive behaviors, Juvenile cataract, Decreased body weig... OMIM:619475
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Incoordination, Ataxia, Macroglossia, Arthrogryposis-like hand anomaly, Camptodactyly... ORPHA:369891
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Failure to thrive in infancy, Nail dystrophy, Cachexia ORPHA:37042
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Short stature, Anorexia, Corneal erosion, Weight loss, Con... ORPHA:37
Coasy Protein-Associated Neurodegeneration
Parkinsonism, Spastic paraparesis ORPHA:397725
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Dysphagia, Athetosis, Limb d... ORPHA:25
Zellweger Syndrome
Multicystic kidney dysplasia, Abnormal chorioretinal morphology, Hypospadias, Optic atrophy, Cogn... ORPHA:912
Rauch-Steindl Syndrome
Hyperactivity, Short stature, Highly arched eyebrow, Aggressive behavior, Postnatal growth retard... OMIM:619695
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia ORPHA:537
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Hypospadias, Unilateral renal agenesis, Renal cyst, Attent... ORPHA:464311
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss ORPHA:99868
Joubert Syndrome 2
Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Chorioretinal coloboma, ... OMIM:608091
Brain-Lung-Thyroid Syndrome
Short attention span, Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal ... ORPHA:209905
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Cachexia ORPHA:109
Anaplastic Thyroid Carcinoma
Weight loss, Vocal cord paralysis, Dysphagia ORPHA:142
Microsporidiosis
Cachexia, Anorexia, Keratitis, Keratoconjunctivitis, Weight loss, Corneal ulceration ORPHA:2552
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp... ORPHA:98784
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Hypoplastic hippocampus OMIM:618606
Histidinemia
Hyperactivity ORPHA:2157
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Panhypophysitis
Polydipsia, Hyposthenuria ORPHA:95513
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Multiple System Atrophy 1, Susceptibility To
Iris atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Short stature, Ataxia, Postnatal growth retardation, Spastic paraplegia, Hypertonia, Zo... ORPHA:168577
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Syndromic Diarrhea
Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Stickler Syndrome
Cataract, Short stature, Cachexia, Ectopia lentis, Hemiplegia/hemiparesis, Astigmatism, Slender b... ORPHA:828
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Erdheim-Chester Disease
Hydronephrosis, Renal insufficiency, Polydipsia, Dysuria ORPHA:35687
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Optic atrophy, Cystic renal dy... OMIM:220500
Eosinophilic Fasciitis
Paresthesia, Weight loss ORPHA:3165
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Lower limb hypertonia, ... OMIM:619487
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Hypertonia, Agitation, Myoclonus, Mydriasis ORPHA:43116
X-Linked Agammaglobulinemia
Alopecia, Short stature, Weight loss, Conjunctivitis, Failure to thrive ORPHA:47
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Resting tremor, Cataract, Ataxia, Babinski sign, Head tremor, Spasticity ORPHA:314404
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Aggressive behavior, Self-mutilation, Rena... ORPHA:261494
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Chorioretinal lacunae, Multiple renal cysts, Reti... OMIM:618733
Gitelman Syndrome
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial ... ORPHA:358
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Failure to thrive, Rhizomelia, Weight loss ORPHA:1842
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Coloboma, Retinal coloboma, Nephroblastoma, Bifid ureter, Renal dy... OMIM:617107
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... OMIM:241200
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Renal cyst, Dysphagia, Hyperechogenic kidneys, Retinopathy OMIM:615636
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Mody
Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Retinopathy ORPHA:552
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Pigmentary retinopathy, Dysphagia, Vesicouret... OMIM:618460
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Somatic sensory dysfunction, Cataract, Tremor, Inability to walk, B... ORPHA:466768
Glossopharyngeal Neuralgia
Dysesthesia, Weight loss, Vocal cord paralysis, Oral-pharyngeal dysphagia ORPHA:221098
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Progressive neurologic deterioration, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, ... OMIM:210710
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis... OMIM:208500
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss ORPHA:312
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Depression, Enuresis, Self-injurious behavior, Compulsive behaviors, Emotion... ORPHA:293987
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Retinal hamartoma, Renal cyst, Achromatic reti... OMIM:613254
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Short stature, Iris hypopigmentation, Obesity, Head-banging, Abnormal s... ORPHA:177907
Tuberous Sclerosis 1
Renal cyst, Achromatic retinal patches, Renal cell carcinoma, Attention deficit hyperactivity dis... OMIM:191100
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Weight loss, Punctate keratitis, Failure to thrive ORPHA:92050
Joubert Syndrome 6
Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia OMIM:610688
Roberts Syndrome
Long penis, Polycystic kidney dysplasia ORPHA:3103
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Hypotonia, Ataxia, And Delayed Development Syndrome
Speech apraxia, Pain insensitivity, Broad-based gait, Short stature, Ataxia, Synophrys, Truncal a... OMIM:617330
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Septo-optic dysplasia, Optic atrophy, Iris coloboma ORPHA:3301
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Follicular Lymphoma
Weight loss ORPHA:545
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Lissencephaly 9 With Complex Brainstem Malformation
Dysgenesis of the hippocampus, Dysphagia OMIM:618325
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... ORPHA:512
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... OMIM:310600
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Immunodeficiency 27A
Anorexia, Weight loss OMIM:209950
Axial Osteomalacia
Renal cyst OMIM:109130
Atelosteogenesis Type I
Multiple renal cysts, Retinal dysplasia ORPHA:1190
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Abnormal optic n... ORPHA:637
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Optic nerve hypoplasia, Optic atrophy, Attention deficit hyperactiv... ORPHA:261349
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Weight loss ORPHA:65682
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Synophrys, Hypertonia, Myoclonic spas... ORPHA:447997
Von Hippel-Lindau Disease
Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ... ORPHA:892
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Focal Myositis
Weight loss ORPHA:48918
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Short stature, Aggressive behavior, Sparse anterior scalp hair, Uns... ORPHA:96121
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Mast Cell Sarcoma
Weight loss ORPHA:66661
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Obesity OMIM:614947
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Lynch Syndrome
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Gait disturbance, Pares... ORPHA:144
48,Xxxy Syndrome
Tremor, Abnormal social behavior, Obesity, Attention deficit hyperactivity disorder ORPHA:96263
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Coloboma, Iris coloboma, Hydronephrosis ORPHA:1297
Fg Syndrome Type 1
Broad-based gait, Short stature, Frontal upsweep of hair, Attention deficit hyperactivity disorde... ORPHA:93932
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Deviation of the 5th toe, Slender toe, Spastic paraparesis, Clinodactyly, Slender finger ORPHA:391408
Niemann-Pick Disease, Type C2
Ataxia, Dysphagia, Dystonia, Cataplexy, Spasticity, Abnormal repetitive mannerisms OMIM:607625
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypoplastic hippocampus OMIM:617780
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Optic disc coloboma, Optic atrophy, Vesicoureteral refl... OMIM:122470
Wiedemann-Steiner Syndrome
Hyperactivity, Short stature, Rhizomelia, Aggressive behavior, Postnatal growth retardation, Syno... ORPHA:319182
Femoral-Facial Syndrome
Micropenis, Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology OMIM:134780
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Short stature, Ataxia, Aggressive behavior, Unsteady gait, Poor ... OMIM:614756
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Chorioretinal coloboma, N... ORPHA:1454
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Multicystic kidney dysplasia, Displacement of the urethral meatus, Cognitive ... ORPHA:1556
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Attention deficit hyperactivity dis... OMIM:620185
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Biotinidase Deficiency
Ataxia, Optic neuropathy, Myelopathy, Optic atrophy, Spastic paraparesis, Limb muscle weakness ORPHA:79241
Giant Cell Arteritis
Alopecia, Ataxia, Anorexia, Weight loss, Paresthesia ORPHA:397
Developmental Delay With Or Without Dysmorphic Facies And Autism
Optic disc coloboma, Renal hypoplasia, Renal cyst, Microphallus, Compulsive behaviors, Vesicouret... OMIM:618454
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Takayasu Arteritis
Anorexia, Weight loss ORPHA:3287
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Juvenile Polyposis Of Infancy
Short stature, Cachexia ORPHA:79076
Pfapa Syndrome
Weight loss ORPHA:42642
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Mend Syndrome
Hyperactivity, Cataract, Short stature, Failure to thrive, Aggressive behavior, Abnormal social b... ORPHA:401973
Slc35A2-Cdg
Lateral ventricle dilatation, Hypoplastic hippocampus ORPHA:356961
Familial Colorectal Cancer Type X
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Gait disturbance, Pares... ORPHA:440437
Nephroblastoma
Aniridia, Weight loss ORPHA:654
Scheie Syndrome
Abnormal nerve conduction velocity, Splenomegaly, Cerebral palsy, Spastic paraparesis ORPHA:93474
Dpagt1-Cdg
Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Head-banging, Developmental cat... ORPHA:86309
Oculodentodigital Dysplasia
Finger syndactyly, Neurogenic bladder, Toe syndactyly, Ataxia, Camptodactyly of finger, Short hal... ORPHA:2710
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Compulsive behaviors, Attention deficit hyperactivity disorder, Nep... ORPHA:1001
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Somatic sensory dysfunction, Anorexia, Weight loss ORPHA:370348
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis,... ORPHA:464306
3-Methylglutaconic Aciduria, Type Viii
Cataract, Dystonia, Clonus, Tremor, Growth delay, Hypertonia, Dysphagia, Failure to thrive OMIM:617248
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Failure to thrive, Short stature, Overweight, Head-banging, Self-injurious behavior, Attention de... OMIM:619575
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal dysplasia, Ureteral duplication, Retinal dystrophy, Pancreatic cysts, Stage 5 chronic kidne... OMIM:266920
Cockayne Syndrome B
Dry hair, Severe short stature, Ataxia, Small for gestational age, Postnatal growth retardation, ... OMIM:133540
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Secondary Short Bowel Syndrome
Growth delay, Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Leishmaniasis
Anorexia, Weight loss ORPHA:507
Microcephaly-Capillary Malformation Syndrome
Hypoplastic hippocampus OMIM:614261
Riddle Syndrome
Conjunctival telangiectasia, Ataxia, Short stature, Clumsiness, Weight loss, Gait disturbance, Po... ORPHA:420741
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia OMIM:619774
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Rod-cone dystrophy OMIM:212065
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Cataract, Anorexia, Ocular albinism, Weight loss, Astigmatism, Long eye... ORPHA:79430
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair, Cataract, Moderate postnatal growth retardation OMIM:118650
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Anorexia, Spastic hemiparesis, Weight loss, Myoclonus, Spasticity ORPHA:20
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Extrapyramidal muscular rigidity, Neonatal alloimmune thro... ORPHA:51
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Chorioretinal coloboma,... ORPHA:2092
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Memory impairment, Addictive alcohol use, Progressive neurologic deterioration ORPHA:90065
Oculopharyngodistal Myopathy 1
Ataxia, Tremor, Weight loss, Difficulty walking, Dysphagia OMIM:164310
8P23.1 Microdeletion Syndrome
Short stature, Obesity, Weight loss, Growth delay, Attention deficit hyperactivity disorder, Intr... ORPHA:251071
Familial Infantile Myoclonic Epilepsy
Abnormal hippocampus morphology ORPHA:352582
African Trypanosomiasis
Alopecia, Abnormal central motor function, Somatic sensory dysfunction, Involuntary movements, Ak... ORPHA:3385
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Optic atrophy, Hematuria, Multiple ren... ORPHA:538
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Weight loss ORPHA:171876
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Optic atrophy, Renal cyst, Coloboma, Attention deficit hyperactivity disorder, Vesic... OMIM:616975
Van Esch-O'Driscoll Syndrome
Short stature, Impulsivity, Shyness, Unilateral vocal cord paralysis, Growth delay, Attention def... OMIM:301030
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Keratitis, Dysphagia, Weight loss, Anterior lenticonus, Failure to thrive ORPHA:1018
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss ORPHA:1302
Isolated Osteopoikilosis
Addictive alcohol use, Abnormality of the kidney ORPHA:166119
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Malignant Atrophic Papulosis
Pain insensitivity, Cataract, Weight loss ORPHA:679
Polymyositis
Gait disturbance, Anorexia, Weight loss ORPHA:732
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:276621
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium ORPHA:220460
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Weight loss, Apraxia, Intrauterine growth retardation, Failure to thrive ORPHA:99885
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Osteosarcoma
Weight loss ORPHA:668
Cap Polyposis
Weight loss ORPHA:160148
Say-Barber-Miller Syndrome
Babinski sign, Elbow flexion contracture, Optic atrophy, Patellar hypoplasia, Knee flexion contra... ORPHA:3132
Medullary Thyroid Carcinoma
Weight loss, Dysphagia ORPHA:1332
Bullous Pemphigoid
Weight loss ORPHA:703
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Vocal cord paralysis, Tremor, Weight loss ORPHA:29072
Proteus Syndrome
Central heterochromia, Cataract, Cachexia, Buphthalmos, Generalized hirsutism ORPHA:744
Yao Syndrome
Keratoconjunctivitis sicca, Weight loss OMIM:617321
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts ORPHA:2869
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Ethylene Glycol Poisoning
Renal insufficiency, Confusion, Renal tubular epithelial necrosis, Euphoria, Renal tubular dysfun... ORPHA:31826
Dihydropyrimidine Dehydrogenase Deficiency
Short nail, Inability to walk, Microcornea, Astigmatism, Long eyelashes, Hypertonia, Abnormal soc... ORPHA:1675
Roberts-Sc Phocomelia Syndrome
Hypospadias, Long penis, Horseshoe kidney, Coloboma, Polycystic kidney dysplasia OMIM:268300
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormal hippocampus morphology ORPHA:436003
Eosinophilic Gastroenteritis
Weight loss, Dysphagia ORPHA:2070
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Toe syndactyly, Bilateral camptodactyly, Talipes equinovarus, Spastic paraparesis, Long hallux OMIM:619234
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Hurler Syndrome
Cerebral palsy, Camptodactyly of finger, Splenomegaly, Abnormal pyramidal sign, Macroglossia, Abn... ORPHA:93473
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst, Retinal capillary ... OMIM:193300
Ménétrier Disease
Anorexia, Weight loss ORPHA:2494
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Poems Syndrome
Leukonychia, Weight loss, Paresthesia, Hyperesthesia, Hypertrichosis ORPHA:2905
Familial Glucocorticoid Deficiency
Tetraplegia, Failure to thrive, Anorexia, Weight loss ORPHA:361
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Behçet Disease
Cataract, Ataxia, Anorexia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Keratoconjunctivit... ORPHA:117
Nmda Receptor Encephalitis
Involuntary movements, Oculogyric crisis, Rigidity, Hypersexuality, Chorea, Opisthotonus, Choreoa... ORPHA:217253
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Chronic Beryllium Disease
Weight loss ORPHA:133
Acute Monoblastic/Monocytic Leukemia
Anorexia, Weight loss ORPHA:514
Eosinophilic Granulomatosis With Polyangiitis
Hemiplegia/hemiparesis, Weight loss, Gait disturbance, Dysphagia ORPHA:183
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Kaposi Sarcoma
Weight loss ORPHA:33276
Cystic Echinococcosis
Ovarian cyst, Hepatic cysts, Renal cyst, Membranous nephropathy ORPHA:400
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst ORPHA:1692
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis OMIM:257300
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Argininemia
Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti... OMIM:207800
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hepatic cysts OMIM:615415
Pitt-Hopkins Syndrome
Self-injurious behavior, Hypoplastic hippocampus, Abnormal repetitive mannerisms OMIM:610954
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Chorioretinal dysplasia, Proximal renal tubular... ORPHA:534
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Optic nerve hypoplasia, Aggressive behavior, Renal cyst, Attention deficit hyperacti... ORPHA:495875
Aggressive Systemic Mastocytosis
Anorexia, Weight loss ORPHA:98850
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use ORPHA:399180
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Polyarteritis Nodosa
Weight loss ORPHA:767
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Retinal coloboma, Nephroblastoma, Bifid ureter, ... ORPHA:500095
Staphylococcal Necrotizing Pneumonia
Addictive alcohol use, Confusion ORPHA:36238
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Alopecia, Fair hair, Small for gestational age, Postnatal growth retardation, Dev... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Alopecia, Fair hair, Small for gestational age, Postnatal growth retardation, Dev... ORPHA:363958
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... ORPHA:79102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Optic nerve dysplasia, Retinal dysplasia, Micropenis, Hydronephrosis OMIM:615287
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... ORPHA:369837
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Acute Promyelocytic Leukemia
Addictive alcohol use, Anorexia, Weight loss ORPHA:520
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Pearson Syndrome
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Dysphagia, Pigmentary retinopathy, ... ORPHA:699
Mucolipidosis Type Ii
Dry hair, Short stature, Postnatal growth retardation, Inability to walk, White hair, Fine hair, ... ORPHA:576
Pemphigus Vulgaris
Weight loss ORPHA:704
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Chorioretinal atrophy, Renal ... OMIM:118450
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Optic a... ORPHA:818
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Optic atrophy, Ocular albinism, Rena... ORPHA:1606
Meckel Syndrome, Type 7
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... OMIM:267010
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis ORPHA:99776
Carney-Stratakis Syndrome
Weight loss, Dysphagia ORPHA:97286
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Renal cyst OMIM:272460
Acute Adrenal Insufficiency
Salt craving, Sparse axillary hair, Anorexia, Weight loss, Delayed puberty, Failure to thrive ORPHA:95409
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353281
Neuroendocrine Tumor Of The Colon
Anorexia, Weight loss ORPHA:100080
Histiocytoid Cardiomyopathy
Optic atrophy, Renal cyst, Polycystic ovaries ORPHA:137675
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Acute Lung Injury
Addictive alcohol use ORPHA:178320
Aicardi-Goutieres Syndrome 7
Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Hypertonia, Tetraparesis, ... OMIM:615846
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Adrenocortical Carcinoma
Weight loss, Increased body weight, Hypertrichosis ORPHA:1501
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hyperactivity, Hypospadias, Ren... OMIM:270400
Loeffler Endocarditis
Weight loss ORPHA:75566
Alveolar Echinococcosis
Hemiparesis, Ataxia, Weight loss ORPHA:284
Rheumatoid Arthritis
Weight loss OMIM:180300
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Igg4-Related Aortitis
Weight loss ORPHA:449400
Neuroendocrine Tumor Of The Rectum
Anorexia, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Weight loss ORPHA:100082
Bronchial Neuroendocrine Tumor
Anorexia, Weight loss ORPHA:97287
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Abnormal chorioretinal morphology, Pancreatic... ORPHA:564
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Familial Thrombocytosis
Paresthesia, Weight loss ORPHA:71493
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Failure to thrive, Weight loss ORPHA:79128
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
Primary Intestinal Lymphangiectasia
Growth delay, Weight loss ORPHA:90362
Herpes Simplex Virus Encephalitis
Addictive alcohol use ORPHA:1930
Simple Cryoglobulinemia
Weight loss, Paresthesia, Spontaneous pain sensation ORPHA:91139
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia,... OMIM:620330
Felty Syndrome
Weight loss ORPHA:47612
Williams Syndrome
Tremor, Dysmetria, Compulsive behaviors, Megalocornea, Abnormal social behavior, Short stature, A... ORPHA:904
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Primrose Syndrome
Restlessness, Sparse scalp hair, Short stature, Absent facial hair, Ataxia, Aggressive behavior, ... OMIM:259050
Porphyria Cutanea Tarda
Increased urinary porphobilinogen, Addictive alcohol use, Stage 5 chronic kidney disease, Porphyr... ORPHA:101330
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Apert Syndrome
Hydrocephalus, Abnormal morphology of the limbic system, Agenesis of corpus callosum OMIM:101200
Late-Onset Isolated Acth Deficiency
Failure to thrive, Anorexia, Weight loss ORPHA:199299
Pagod Syndrome
Multicystic kidney dysplasia, Optic atrophy, Renal hypoplasia/aplasia ORPHA:991
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Refractory Celiac Disease
Weight loss ORPHA:398063
Stevens-Johnson Syndrome
Corneal erosion, Weight loss, Conjunctivitis, Dysphagia ORPHA:36426
Pneumocystosis
Weight loss ORPHA:723
Lowe Oculocerebrorenal Syndrome
Short stature, Aggressive behavior, Postnatal growth retardation, Corneal scarring, Developmental... OMIM:309000
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Weight loss ORPHA:100085
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Kaposiform Lymphangiomatosis
Pancreatic cysts, Multiple renal cysts, Enlarged kidney ORPHA:464329
Monosomy 22Q13.3
Hyperactivity, Impaired pain sensation, Hair-pulling, Obesity, Long eyelashes, Bruxism, Thick eye... ORPHA:48652
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma, Hypospadias OMIM:300166
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss ORPHA:465508
Neuroocular Syndrome
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Lens coloboma, Attention defici... OMIM:619539
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Schinzel-Giedion Syndrome
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Dysphagia, Nephr... ORPHA:798
Insulin-Resistance Syndrome Type B
Alopecia, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight, ... ORPHA:2298
Juvenile Dermatomyositis
Alopecia, Weight loss, Dysphagia ORPHA:93672
Addison Disease
Salt craving, Sparse axillary hair, Anorexia, Weight loss, Delayed puberty, Failure to thrive ORPHA:85138
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed... ORPHA:2538
Jacobsen Syndrome
Multicystic kidney dysplasia, Iris coloboma, Hydronephrosis, Attention deficit hyperactivity diso... ORPHA:2308
Tsh-Secreting Pituitary Adenoma
Abnormal hair quantity, Tremor, Weight loss, Delayed puberty, Periodic hypokalemic paresis ORPHA:91347
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Kikuchi-Fujimoto Disease
Alopecia, Ataxia, Anorexia, Weight loss ORPHA:50918
Al Amyloidosis
Weight loss, Dysphagia ORPHA:85443
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Hyperactivity, Abnormal chorioretinal morpho... ORPHA:3310
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565
Gallbladder Neuroendocrine Tumor
Anorexia, Weight loss ORPHA:100086
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Granulomatosis With Polyangiitis
Keratitis, Conjunctivitis, Weight loss OMIM:608710
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis OMIM:229850
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Keratoconjunctivitis sicca, Weight loss ORPHA:309031
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353277
Budd-Chiari Syndrome
Weight loss ORPHA:131
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Klatskin Tumor
Weight loss ORPHA:99978
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Enlarged kidney OMIM:200995
Brucellosis
Small for gestational age, Anorexia, Chorea, Weight loss, Failure to thrive ORPHA:1304
Beckwith-Wiedemann Syndrome
Ureteral duplication, Nephropathy, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multip... ORPHA:116
Anemia, Congenital Dyserythropoietic, Type Iv
Short stature, Weight loss OMIM:613673
Immunodeficiency 31C
Growth delay, Weight loss, Short stature, Delayed puberty OMIM:614162
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia OMIM:269860
Thymoma
Weight loss ORPHA:99867
Fanconi Anemia
Cataract, Short stature, Weight loss, Growth delay, Aplasia/Hypoplasia of the iris, Astigmatism, ... ORPHA:84
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Abnormal localization of kidney, Attention deficit hyp... ORPHA:1596
Neuroendocrine Tumor Of Stomach
Anorexia, Weight loss ORPHA:100075
Multiple Myeloma
Paresthesia, Weight loss ORPHA:29073
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Weight loss ORPHA:85408
Familial Pancreatic Carcinoma
Anorexia, Weight loss ORPHA:1333
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney, Dysphagia ORPHA:171929
Q Fever
Anorexia, Weight loss ORPHA:781
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Corneal opacity, Alopecia totalis, Loss of eyelashes, Weight loss, Patchy alopeci... ORPHA:740
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Weight loss ORPHA:49041
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis ORPHA:2750
Hajdu-Cheney Syndrome
Multiple renal cysts, Hypospadias, Iris coloboma ORPHA:955
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Cirrhotic Cardiomyopathy
Addictive alcohol use ORPHA:57777
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Cranioectodermal Dysplasia 2
Renal insufficiency, Renal cyst OMIM:613610
Polycythemia Vera
Weight loss ORPHA:729
Reactive Arthritis
Dystrophic fingernails, Conjunctivitis, Weight loss ORPHA:29207
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Optic ... ORPHA:709
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Renal hypoplasia,... OMIM:107480
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Renal cyst, Retinal coloboma, Iris coloboma OMIM:113620
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
Tubulointerstitial Nephritis And Uveitis Syndrome
Cataract, Anorexia, Anterior chamber flare, Weight loss, Posterior synechiae of the anterior cham... ORPHA:91500
Chronic Graft Versus Host Disease
Alopecia, Anorexia, Weight loss, Keratoconjunctivitis sicca, Nail dystrophy, Recurrent corneal er... ORPHA:99921
Hydranencephaly
Hypoplastic hippocampus ORPHA:2177
Robinow Syndrome
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:97360
Congenital Fiber-Type Disproportion Myopathy
Weight loss, Failure to thrive, Dysphagia ORPHA:2020
Nocardiosis
Keratitis, Conjunctivitis, Anorexia, Weight loss ORPHA:31204
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormal repetitive mannerisms, ... ORPHA:261537
Ppoma
Anorexia, Weight loss ORPHA:97278
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Abnor... ORPHA:2152
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormal repetitive mannerisms, ... ORPHA:261552
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Attention de... ORPHA:199
Pancreatoblastoma
Weight loss ORPHA:677
Castleman Disease
Weight loss ORPHA:160
Somatostatinoma
Anorexia, Weight loss ORPHA:97283
Granulomatosis With Polyangiitis
Hemiplegia, Weight loss ORPHA:900
Pyomyositis
Weight loss ORPHA:764
Grfoma
Anorexia, Weight loss ORPHA:97261
Vipoma
Anorexia, Weight loss ORPHA:97282
Tropical Pancreatitis
Weight loss ORPHA:103918
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Short stature, Frontal balding, Weight loss, Failure to thrive, Hirsutism ORPHA:90794
Glucagonoma
Anorexia, Weight loss ORPHA:97280
Postinfectious Vasculitis
Anorexia, Weight loss ORPHA:48435
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... OMIM:312870
Rat-Bite Fever
Weight loss ORPHA:31205
Malt Lymphoma
Weight loss ORPHA:52417
Mowat-Wilson Syndrome
Abnormal hippocampus morphology, Agenesis of corpus callosum OMIM:235730
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Dermatomyositis
Abnormal hair quantity, Weight loss ORPHA:221
Sarcoidosis
Alopecia, Cataract, Weight loss, Keratoconjunctivitis sicca, Abnormal conjunctiva morphology ORPHA:797
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:1308
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss ORPHA:3337
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia ORPHA:2052
Sarcoidosis, Susceptibility To, 1
Anorexia, Weight loss OMIM:181000
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Multiple Endocrine Neoplasia Type 1
Anorexia, Weight loss ORPHA:652
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Anorexia, Increased body weight, Weight loss, Truncal obesity, Abdominal obesi... ORPHA:99889
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Weight loss ORPHA:79078
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Dysphagia OMIM:606170
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Renal dyspl... OMIM:308205
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Weight loss OMIM:619381
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Pmm2-Cdg
Proteinuria, Nephrotic syndrome, Multiple renal cysts, Photoreceptor layer loss on macular OCT, R... ORPHA:79318
Pallister-Killian Syndrome
Hypospadias, Renal dysplasia, Renal cyst OMIM:601803
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mapttm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mapttm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mapttm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Mapttm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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