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Gene: Cstb MGI:109514

Gene Summary

Name:

cystatin B

Synonyms:

Stfb

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
short tibia	Cstb^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.09×10^-07
hyperactivity	Cstb^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.29×10^-05
increased circulating triglyceride level	Cstb^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.89×10^-05
decreased total retina thickness	Cstb^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.26×10^-14
decreased circulating creatinine level	Cstb^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.46×10^-05
increased monocyte cell number	Cstb^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.76×10^-10
decreased lymphocyte cell number	Cstb^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.37×10^-05
abnormal retina outer nuclear layer morphology	Cstb^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.15×10^-13
abnormal eye anterior chamber depth	Cstb^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.44×10^-08
increased vertical activity	Cstb^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.61×10^-07
decreased body length	Cstb^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.76×10^-05
abnormal auditory brainstem response	Cstb^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.90×10^-06

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Human diseases caused by Cstb mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Cstb (3 diseases)
Human diseases predicted to be associated with Cstb (1346 diseases)

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

Disease	Matching phenotypes	Source
Progressive Myoclonic Epilepsy Type 1	EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten...	ORPHA:308
Myoclonic Epilepsy Of Unverricht And Lundborg	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ...	OMIM:254800
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia		ORPHA:248

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

Disease	Matching phenotypes	Source
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, EEG with generalized epilepti...	OMIM:616187
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Giant som...	OMIM:618876
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Ataxia, EEG abnormality, Seizure, Myoclonus, Loss of ambulation	OMIM:600143
Epilepsy, Familial Adult Myoclonic, 4	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike...	OMIM:615127
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxi...	OMIM:616230
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG...	OMIM:613608
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Abnormal cerebellum morphology, Myoclonic s...	OMIM:162350
Infantile Spasms Syndrome	Myoclonus, Infantile spasms, Hypsarrhythmia	ORPHA:3451
Progressive Myoclonic Epilepsy Type 1	EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten...	ORPHA:308
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus	OMIM:125370
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract, Ataxia, Cerebellar agenesis	ORPHA:1397
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus	OMIM:208700
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy	OMIM:615957
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim...	ORPHA:95434
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Abnormal nervous system ...	OMIM:256731
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Hypoplasia of the pons, EEG with burst suppression, Elbow flexion contracture...	OMIM:619303
Benign Adult Familial Myoclonic Epilepsy	Generalized-onset seizure, Focal-onset seizure, Hand tremor, EEG abnormality, Myoclonus	ORPHA:86814
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire...	OMIM:615400
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy, Ataxia, Progressive cerebellar ataxia, Upper motor neuron dys...	ORPHA:3177
Developmental Delay With Dysmorphic Facies And Dental Anomalies	EEG abnormality, Spasticity, Seizure, Ataxia	OMIM:619228
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ...	OMIM:618587
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure	OMIM:612437
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Cataract, Limb ataxia, Gait ataxia, Spastic gait	OMIM:617133
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor...	ORPHA:79262
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, Typical absen...	OMIM:607682
Myoclonic Epilepsy Of Unverricht And Lundborg	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ...	OMIM:254800
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG dischar...	ORPHA:263516
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu...	OMIM:614018
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi...	OMIM:613855
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure...	OMIM:616981
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski...	OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, EEG with sp...	ORPHA:139431
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure	OMIM:611092
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Seizure, Ataxia, Cerebellar hypoplasia	OMIM:213000
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Epileptic spasm, Ataxia, EEG with burst suppression, Spastic tetraplegia, Sei...	OMIM:619971
Developmental And Epileptic Encephalopathy 69	Inability to walk, Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, Congenital contracture, ...	OMIM:618285
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3...	OMIM:616366
Epilepsy, Myoclonic Juvenile	Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ...	OMIM:254770
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Seizure, Myoclonus	OMIM:217200
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga...	OMIM:605259
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Ceroid Lipofuscinosis, Neuronal, 2	Seizure, Abnormal nervous system electrophysiology, Ataxia, Myoclonus	OMIM:204500
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Dystonia 23	Cerebellar atrophy, Torticollis, Gait disturbance, Myoclonus, Head tremor	OMIM:614860
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizu...	OMIM:301020
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Falls, EEG with focal sharp...	ORPHA:2382
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat...	OMIM:619742
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Ataxia, Corneal dystrophy, Hemiplegia/hemiparesis, Developmental cataract, Gait d...	ORPHA:2572
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, EEG abnormality, Seizure, Myoclonus, Difficulty walking, Spasticity	OMIM:617829
Progressive Myoclonic Epilepsy With Dystonia	EEG with irregular generalized spike and wave complexes, Abnormal pyramidal sign, Hemiparesis, St...	ORPHA:352596
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Continuous Spikes And Waves During Sleep	Speech apraxia, Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic...	ORPHA:725
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, EEG abnormality, Seizure, Myoclonus, Atypical abse...	OMIM:617391
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Hyp...	OMIM:616139
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p...	OMIM:608105
Ceroid Lipofuscinosis, Neuronal, 11	Cerebellar atrophy, Ataxia, EEG with generalized polyspikes, Seizure, Generalized myoclonic seizure	OMIM:614706
Hereditary Geniospasm	EEG abnormality, Chin myoclonus, Intention tremor	ORPHA:53372
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer...	OMIM:607346
Creutzfeldt-Jakob Disease	Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Myocl...	OMIM:123400
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, EEG abnormality, Seizure, Hemiparesis, Myoclon...	OMIM:606777
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady...	ORPHA:101010
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,...	OMIM:619028
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic...	OMIM:616540
Early Myoclonic Encephalopathy	Infantile spasms, Focal seizure with eyelid myoclonia, Focal motor seizure, Focal tonic seizure, ...	ORPHA:1935
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Benign Familial Neonatal Epilepsy	Focal EEG discharges with secondary generalization, Simple febrile seizure, Clonus, Focal-onset s...	ORPHA:1949
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Familial Infantile Myoclonic Epilepsy	Interictal EEG abnormality, Cerebellar atrophy, EEG with focal spike waves, Bilateral tonic-cloni...	ORPHA:352582
Alexander Disease	Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Abnormal dentate nucleus morphology, Micro...	OMIM:203450
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ...	OMIM:204300
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Juvenile Myoclonic Epilepsy	EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure...	ORPHA:307
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Epilepsy, Progressive Myoclonic, 12	Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking	OMIM:619191
Myoclonus-Dystonia Syndrome	Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus	ORPHA:36899
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Pontocerebellar Hypoplasia, Type 4	Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Seizure, Congenital cont...	OMIM:225753
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spasti...	ORPHA:313772
Restless Legs Syndrome, Susceptibility To, 1	Paresthesia, Myoclonus	OMIM:102300
Infantile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Cerebellar atrophy, Generalized-onset seizure, Ataxia, Tremor, Chorea...	ORPHA:79263
Juvenile Absence Epilepsy	EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen...	ORPHA:1941
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu...	ORPHA:2590
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity	OMIM:545000
Epilepsy, Familial Adult Myoclonic, 2	Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul...	OMIM:607876
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizur...	ORPHA:248111
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Bilateral tonic-clonic seizure, Parkinsonism, Abnormal cerebellum morphology, Seizure, ...	OMIM:204200
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, EEG...	ORPHA:86909
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S...	ORPHA:33069
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction	ORPHA:401901
Hemimegalencephaly	EEG with polyspike wave complexes, Interictal EEG abnormality, Epileptic spasm, EEG with burst su...	ORPHA:99802
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My...	OMIM:616421
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication	OMIM:314250
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Seizur...	OMIM:612016
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, EEG abnormality, Seizure, Hypertonia, Status epilepti...	ORPHA:71277
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ata...	OMIM:607136
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Impaired vibratory sensation, Pain insensitivity, Impaired temperature sensation, Hypoesthesia, I...	OMIM:616488
Pontocerebellar Hypoplasia Type 4	Olivopontocerebellar hypoplasia, Seizure, Hypertonia, Myoclonus, Arthrogryposis multiplex congenita	ORPHA:166063
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w...	ORPHA:599373
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, D...	OMIM:614487
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Tortuosity of conjunctival vessels, Gait ataxia, Dysmetria, Li...	OMIM:613728
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Aggressive behavior, Clinodactyly of the 5th finger, Clinodactyly of the 5t...	OMIM:618010
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Lower limb spasticity, Speech apraxia, Postural tremor, Hypoplasia of the pon...	ORPHA:412057
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Epileptic spasm, Inability to walk, Chorea, Myoclonic seizure, EEG abnormalit...	OMIM:614254
Late Infantile Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, EEG with generalized slow activity grade 4, Ataxia, Typical absence seizure, S...	ORPHA:168491
Neurotrophic Keratopathy	Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Hyperesthesia, ...	ORPHA:137596
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s...	OMIM:619606
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, ...	ORPHA:101112
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Developmental And Epileptic Encephalopathy 40	Spastic tetraparesis, Hypsarrhythmia, Choreoathetosis, Seizure, Myoclonus, Spasticity	OMIM:617065
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro...	OMIM:612736
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoc...	ORPHA:139485
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:617831
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple...	OMIM:613721
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity	OMIM:616494
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Dystonia 11, Myoclonic	Tremor, Torticollis, Myoclonus	OMIM:159900
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus, Interictal epileptiform activity	OMIM:300699
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,...	OMIM:614322
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Spasticity	OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Seizure	OMIM:615705
Phosphoserine Aminotransferase Deficiency	Hypertonia, Seizure, Cerebellar vermis hypoplasia, Myoclonus	OMIM:610992
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Spastic ataxia, Corneal dystrophy, Developmental cataract	OMIM:271320
Spinocerebellar Ataxia, Autosomal Recessive 25	Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia	OMIM:617584
Developmental And Epileptic Encephalopathy 103	EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic...	OMIM:619913
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Geniospasm 1	Chin myoclonus	OMIM:190100
Myoclonus, Familial, 2	Limb myoclonus	OMIM:618364
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Corneal opacity, Ataxia, Impaired pain sensation, Abnormal cerebell...	ORPHA:1532
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo...	ORPHA:254343
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Hyperekplexia 4	Inguinal hernia, Flexion contracture, Hypsarrhythmia, Seizure, Hypertonia, Distal arthrogryposis,...	OMIM:618011
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Cataract, Dysmetria, Gait ataxia, Seizure, Dysdiadochokines...	OMIM:224050
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Astigmatism, Gait disturbance, Myoclonus, Retrocollis, Tip-toe gait, Spasticity	OMIM:617284
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Combined Saposin Deficiency	Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations	OMIM:611721
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Alpers-Huttenlocher Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo...	ORPHA:726
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme...	ORPHA:251347
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Hypsarrh...	OMIM:615859
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements	OMIM:618425
Spinocerebellar Ataxia 2	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,...	OMIM:183090
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o...	ORPHA:101070
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus	OMIM:619647
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Peho-Like Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Hypsarrhythmia, Status epilepticus, Myoclonus	OMIM:617507
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Autosomal Recessive Spastic Paraplegia Type 48	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressi...	ORPHA:306511
Ceroid Lipofuscinosis, Neuronal, 1	Ataxia, Flexion contracture, EEG abnormality, Seizure, Myoclonus, Spasticity	OMIM:256730
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Status epile...	OMIM:609056
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity, Chorioretinal degeneration	OMIM:616311
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Cataract, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus	OMIM:619780
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:618497
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t...	OMIM:605021
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Chorea, Colitis, Skin rash	OMIM:616744
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemi...	OMIM:144300
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ...	OMIM:618090
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Rigidity, Inability to walk, Seizure, Athetosis, Gait disturbance, Myoclonus,...	OMIM:618241
Gerstmann-Straussler-Scheinker Syndrome	Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Abnormality of extrapyramidal motor fun...	ORPHA:356
Thyrocerebrorenal Syndrome	Slurred speech, Seizure, Myoclonus, Nonprogressive cerebellar ataxia, Nephritis	ORPHA:3327
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Cockayne Syndrome Type 2	Lower limb spasticity, Ataxia, Uveitis, Developmental cataract, Conjunctivitis, Gait disturbance,...	ORPHA:90322
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Chiari type I malformation, EEG abnorma...	OMIM:617836
Spinocerebellar Ataxia Type 36	Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria...	ORPHA:276198
Developmental And Epileptic Encephalopathy 56	EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, Focal motor seizu...	OMIM:617665
Dystonia 15, Myoclonic	Myoclonus	OMIM:607488
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involuntary movements, T...	ORPHA:454887
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Seizur...	OMIM:618356
Developmental And Epileptic Encephalopathy 16	Clonic seizure, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor f...	OMIM:615338
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo...	OMIM:617810
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Generalized-onset seizure, Cataract, Slurred speech, Tortuosity of conjunctiv...	ORPHA:284289
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene...	OMIM:618141
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, EEG abnormality, Pr...	OMIM:239500
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizu...	OMIM:271980
Hyperlysinemia, Type I	Hyperactivity, Ectopia lentis, Hyperlysinuria, Hyperlysinemia, Anemia	OMIM:238700
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus	OMIM:619065
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus	OMIM:261630
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa...	ORPHA:98810
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Cerebral palsy, Ataxia, Skin rash, Hemiplegia/hemiparesis, Uveitis, Seizure, Arthri...	ORPHA:36412
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Kohlschutter-Tonz Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, S...	OMIM:226750
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Uveitis, Developmental cataract	OMIM:617044
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig...	ORPHA:225154
Developmental And Epileptic Encephalopathy 1	Infantile spasms, Tonic seizure, Spastic tetraparesis, EEG with burst suppression, Focal-onset se...	OMIM:308350
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Park...	ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor	OMIM:608029
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Babinski sign, EEG abnormality, Seizure, Gait disturbance, Myoclonus, Apraxia	OMIM:618193
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Rigidity, Chorea, Hypsarrhythmia, Opisthotonus, Seizure, Choreoathetosis, Hyperto...	ORPHA:13
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Limb joint contracture, Infantile spasms, Action tremor, Inability to walk, C...	ORPHA:404454
Insensitivity To Pain, Congenital, With Anhidrosis	Pain insensitivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the...	OMIM:256800
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Thyrocerebroretinal Syndrome	Ataxia, Slurred speech, Seizure, Myoclonus, Nephritis	OMIM:274240
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Inguinal hernia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea,...	ORPHA:485350
Congenital Disorder Of Glycosylation, Type In	Seizure, Spasticity, Ataxia, Myoclonus	OMIM:612015
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Seizure, Unsteady gait, Hypertonia, Myoclonus	OMIM:610090
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ...	OMIM:117360
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Galactosialidosis	Seizure, Corneal opacity	ORPHA:351
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor...	OMIM:617493
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Cataract, Iris coloboma, Corneal scarring	OMIM:212550
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Spastic paraparesis	ORPHA:391417
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere...	ORPHA:254881
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Infantile spasms, Hypoplasia of the pons, Inability to walk, Multifocal epileptiform discharges, ...	ORPHA:411986
Developmental And Epileptic Encephalopathy 72	Infantile spasms, Inability to walk, Hypsarrhythmia, Hyperkinetic movements, Astigmatism	OMIM:618374
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Smith-Magenis Syndrome	Retinal detachment, Hyperactivity, Hypertriglyceridemia, Pes planus, Brachydactyly, Self hugging,...	OMIM:182290
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Hereditary Hyperekplexia	Ataxia, Hiatus hernia, Rigidity, Seizure, Hypertonia, Gait disturbance, Myoclonus, Fasciculations...	ORPHA:3197
Cln5 Disease	Cerebellar atrophy, Generalized-onset seizure, Abnormal central motor function, Ataxia, Tremor, F...	ORPHA:228360
Dravet Syndrome	Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, EEG with burst suppression, Clonic seizure, Myoclo...	OMIM:617290
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Flexion contracture, Focal tonic s...	OMIM:617106
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell...	OMIM:618060
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, A...	ORPHA:85410
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spasticity, Seizure, Palatal tremor	ORPHA:363717
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hypertriglyceridemia, Micrognathia	ORPHA:436182
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Flexion contracture, Dysme...	OMIM:616505
Dystonia 6, Torsion	Torticollis, Myoclonus	OMIM:602629
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Tremor, Tongue fasciculations, Myoclonus, Difficulty walking, Generali...	OMIM:159950
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ...	OMIM:615558
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Atypical Rett Syndrome	Involuntary movements, Infantile spasms, Impaired pain sensation, Tremor, Inability to walk, Loss...	ORPHA:3095
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Limb hypertonia	ORPHA:324588
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Difficulty walking, ...	ORPHA:53351
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus	OMIM:619651
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	OMIM:603552
Mitochondrial Complex I Deficiency, Nuclear Type 31	Seizure, Myoclonus, Dysmetria	OMIM:618251
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet...	OMIM:616127
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, I...	OMIM:617166
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with multifocal slow ac...	ORPHA:289266
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Ga...	ORPHA:98768
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure, Cerebellar vermis atrophy	OMIM:618501
Schizophrenia 15	Hyperactivity	OMIM:613950
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Gait disturbance, Decreased c...	ORPHA:90354
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Loss of ability to walk in early childhood, Babinski sign, Unsteady gait, Spastic diplegi...	ORPHA:401866
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Flexion contracture, Dysmetria, Gait a...	OMIM:616204
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Whipple Disease	Myositis, Pericarditis, Ataxia, Myocarditis, Abnormal pyramidal sign, Uveitis, Seizure, Arthritis...	ORPHA:3452
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Cerebellar atrophy, Impaired vibratory sensation, Atax...	OMIM:607250
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia	OMIM:619175
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl...	OMIM:137440
Sandhoff Disease, Adult Form	Tremor, Spasticity, Fasciculations, Gait ataxia	ORPHA:309169
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl...	OMIM:619092
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo...	OMIM:610539
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	EEG with polyspike wave complexes, Epileptic spasm, Cerebellar vermis hypoplasia, Limb joint cont...	ORPHA:284417
Harel-Yoon Syndrome	Cerebellar atrophy, Corneal opacity, Ataxia, Inability to walk, Generalized non-motor (absence) s...	OMIM:617183
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Corneal arcus, N...	OMIM:245900
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, EEG ...	ORPHA:442835
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly	DECIPHER:8
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,...	ORPHA:208447
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis...	OMIM:133190
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 mon...	OMIM:618412
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Sialidosis Type 1	Cataract, Corneal opacity, Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, E...	ORPHA:812
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ...	OMIM:603516
Chudley-Mccullough Syndrome	Seizure, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:604213
Myoclonus, Intractable, Neonatal	Clonic seizure, Chorea, Athetosis, Myoclonus, Dandy-Walker malformation	OMIM:617235
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, ...	OMIM:619725
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Choreoa...	ORPHA:561854
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Keratitis, Elbow flexion contracture, Corneal scarring, Knee flexion contracture, Keratoconjuncti...	OMIM:148210
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Ataxia, Poor motor coordination, Reduced intraabdominal adip...	ORPHA:363400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Cerebellar dysplasia	OMIM:615041
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Inguinal hernia, Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-ons...	OMIM:614498
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Cataract, Ataxia, Decreased nerve conduction velocity, Achilles tendon contra...	OMIM:612674
Autosomal Recessive Dopa-Responsive Dystonia	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm...	ORPHA:101150
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester...	OMIM:616516
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Enamel hypoplasia	OMIM:226600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Low-frequency s...	OMIM:613101
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	EEG abnormality, Hyperactivity, Low-set ears	ORPHA:436151
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia...	OMIM:617854
Mucolipidosis Iv	Cerebellar atrophy, Corneal opacity, Babinski sign, Spastic tetraplegia, Opacification of the cor...	OMIM:252650
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Babinski si...	ORPHA:98761
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Seizure, Spasticity, Ataxia, Myoclonus	OMIM:620094
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo...	ORPHA:204
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Epileptic spasm, Myoclonus, Hypsarrhythmia	OMIM:619060
Morm Syndrome	Hyperactivity, Cataract, Retinal dystrophy, Retinal atrophy, Aggressive behavior	ORPHA:75858
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor fun...	ORPHA:79279
Microcephaly, Amish Type	Cerebellar vermis hypoplasia, Flexion contracture, Cerebellar hypoplasia, Myoclonus, Limb hypertonia	OMIM:607196
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Pain insensitivity, Broad-based gait, Ataxia, Corneal scarring, Distal sensory impairment, Painle...	OMIM:256810
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreoathetosis,...	OMIM:618877
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Talipes equinovarus, Facial palsy, Abnormal auditory e...	OMIM:601382
Neutral Lipid Storage Disease With Myopathy	Sensorineural hearing impairment, Hypertriglyceridemia, Elevated circulating creatine kinase conc...	OMIM:610717
Bilateral Striopallidodentate Calcinosis	Seizure, Corneal opacity	ORPHA:1980
Juvenile Sialidosis Type 2	Lower limb spasticity, Inguinal hernia, Cataract, Corneal opacity, Ataxia, Dysmetria, Seizure, Um...	ORPHA:93399
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Cockayne Syndrome Type 1	Lower limb spasticity, Cataract, Ataxia, Tremor, Uveitis, Seizure, Conjunctivitis, Gait disturban...	ORPHA:90321
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella...	ORPHA:98756
Muckle-Wells Syndrome	Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Recurrent aphthous stomatitis	ORPHA:575
Posttransplant Acute Limbic Encephalitis	Ataxia, EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, Seizure, My...	ORPHA:163921
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment	OMIM:604218
Hyperekplexia 2	Exaggerated startle response, Hiatus hernia, Hypertonia, Astigmatism, Myoclonus	OMIM:614619
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Flexion contracture, Status epilepticus, Myoclonus, Spasticity	OMIM:618201
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Alzheimer Disease 3	Spastic tetraparesis, Babinski sign, Seizure, Abnormality of extrapyramidal motor function, Myocl...	OMIM:607822
Intellectual Developmental Disorder, X-Linked 101	Clinodactyly, Hyperactivity, Macrotia, Optic atrophy	OMIM:300928
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve...	OMIM:186580
Crome Syndrome	Cerebellar dysplasia, Seizure, Developmental cataract	OMIM:218900
Cinca Syndrome	Seizure, Skin rash, Uveitis, Arthritis	OMIM:607115
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto...	OMIM:617282
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia	OMIM:250620
Autoinflammation With Arthritis And Dyskeratosis	Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization	OMIM:617388
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Huntington Disease	Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br...	ORPHA:399
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Subependymal Nodular Heterotopia	Interictal EEG abnormality, Focal-onset seizure, Limb myoclonus, Seizure, EEG with focal sharp sl...	ORPHA:101030
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ataxia, Myoclonic seizure, Seizure, Myoclonus, Spasticity	OMIM:618225
Sandhoff Disease, Juvenile Form	Cerebellar atrophy, Incoordination, Ataxia, Limb joint contracture, Abnormal pyramidal sign, Seiz...	ORPHA:309162
Lyme Disease	Arthritis, Paresthesia, Infectious encephalitis, Uveitis	ORPHA:91546
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Corneal opacity, Generalized-onset seizur...	ORPHA:357058
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Torticollis, Unsteady gait, Limb tremor, Myoclonus, Head tremor, Difficulty w...	ORPHA:420492
Scrub Typhus	Anterior uveitis, Skin rash, Tremor, Myocarditis, Seizure, Infectious encephalitis	ORPHA:83317
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Alexander Disease Type Ii	Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Spastic parap...	ORPHA:363722
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, EEG with persistent abnormal rhythmic activit...	ORPHA:282166
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Attention deficit hyperactivity disorder	OMIM:615401
Mitochondrial Dna Depletion Syndrome 19	Infantile spasms, Focal-onset seizure, Multifocal epileptiform discharges, Myoclonus, Tetraparesi...	OMIM:618972
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception...	OMIM:616688
Lafora Disease	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Atonic seizure, ...	ORPHA:501
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Riboflavin Transporter Deficiency	Ataxia, Tremor, Seizure, Myoclonus, Iris hypopigmentation	ORPHA:97229
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Toni...	OMIM:615851
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G...	OMIM:616640
Glycine Encephalopathy 1	Seizure, Myoclonus	OMIM:605899
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Babinski sign, Flexion contracture, Seizure, Myoclonus, Truncal ataxia, Spasticity	OMIM:252011
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Bilateral tonic-clonic seizure, Chorea, Multifocal epileptiform discharges, O...	OMIM:616672
Hyperekplexia 1	Exaggerated startle response, Inguinal hernia, Seizure, Hypertonia, Myoclonus, Umbilical hernia, ...	OMIM:149400
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Inability to walk, P...	ORPHA:280234
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Epileptic spasm, Hypoplasia of the pons, Hypsarrhythmia, Seizure, Myoclo...	OMIM:617669
Juvenile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Poo...	ORPHA:79264
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Cataract, Impaired distal proprioception, Abnormal cerebellar corte...	ORPHA:70595
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U...	ORPHA:727
Intermediate Uveitis	Anterior uveitis, Cataract, Psoriasiform dermatitis, Band keratopathy, Tubulointerstitial nephrit...	ORPHA:279914
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Bilateral coxa valga, Hearing impairment	OMIM:620270
Sialidosis Type 2	Tremor, Seizure, Corneal opacity, Ataxia	ORPHA:87876
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin...	OMIM:300635
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb...	ORPHA:208513
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor	ORPHA:420485
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Rigidity, EEG abnormality, Seizure, Myoclonus	OMIM:300673
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movements, Atheto...	OMIM:618218
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Cochleosaccular Degeneration-Cataract Syndrome	Seizure, Cataract, Ataxia	ORPHA:3233
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,...	OMIM:615491
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia	OMIM:619970
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Corneal scarring, Buphthalmos, Hypertonia, Peters anomaly, Joint co...	OMIM:618460
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Act...	OMIM:619738
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Myoclonus, Aspiration pneumonia	OMIM:619057
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Pellagra-Like Syndrome	Skin rash, Cataract, Ataxia	OMIM:260650
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Cataract, Corneal opacity, Gait ataxia, Seizure, Spasticity, Spastic gait	ORPHA:496790
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, EEG abnormality, Seizure, Gait disturbance, Myoclonus, Apraxia, Spasticity	OMIM:221770
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Cerebellar vermis hypoplasia, Cataract, Ataxia, Babinski sign, Gait ataxia, S...	OMIM:620089
Xfe Progeroid Syndrome	Enamel hypoplasia, Poor coordination, Absence of subcutaneous fat, Corneal scarring	OMIM:610965
Incontinentia Pigmenti	Cataract, Corneal opacity, Abnormal chorioretinal morphology, Skin rash, Keratitis, Hemiplegia/he...	ORPHA:464
Transketolase Deficiency	Cataract, Seborrheic dermatitis, Patent ductus arteriosus, Uveitis, Conjunctivitis	ORPHA:488618
Narp Syndrome	Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Myoclonic spasms	ORPHA:644
Ravine Syndrome	Abnormal auditory evoked potentials, Ataxia, Anorexia	ORPHA:99852
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Alpha-Mannosidosis, Adult Form	Cerebellar atrophy, Cataract, Corneal opacity, Ataxia, Pneumonia, Clumsiness	ORPHA:309288
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells	OMIM:620282
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
Slc35A2-Cdg	Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct...	ORPHA:356961
Parkinsonism-Dystonia 1, Infantile-Onset	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,...	OMIM:613135
Winchester Syndrome	Corneal opacity	OMIM:277950
Mepan Syndrome	Cerebellar atrophy, Ataxia, Chorea, Gait disturbance, Myoclonus, Spasticity	ORPHA:508093
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Cataract, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis,...	ORPHA:445038
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Ataxia, Macular coloboma, Macular atrophy, Abnormal auditory evoked ...	OMIM:619260
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th...	OMIM:614700
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Smith-Magenis Syndrome	Retinal detachment, Pes planus, Hypertriglyceridemia, Toe syndactyly, Micrognathia, Microcornea, ...	ORPHA:819
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder	OMIM:617113
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus	ORPHA:324708
Early Infantile Epileptic Encephalopathy	Tremor, Choreoathetosis, EEG with burst suppression, Hypsarrhythmia, EEG abnormality, Uni- and bi...	ORPHA:1934
Autosomal Recessive Spastic Paraplegia Type 44	Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking...	ORPHA:320401
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Posteriorly rotated ears, Overlapping toe, Micrognathia, Fibular hypoplasia, Ta...	OMIM:201170
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, Chorea, Slu...	ORPHA:98755
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A...	ORPHA:98759
Oculodentodigital Dysplasia	Cataract, Ataxia, Paraparesis, Uveitis, Microcornea, Seizure, Tetraparesis, Spasticity	OMIM:164200
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Facia...	OMIM:617281
Peho Syndrome	Cerebellar atrophy, Seizure, Myoclonus, Hypsarrhythmia	OMIM:260565
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Polyphagia	ORPHA:71529
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Cataract, Ataxia, Tremor, Recurrent pneumonia, Opisthotonus, Choreoathetosis,...	OMIM:616271
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Short humerus, Short femur, Abnormal pinna morphology, Rhizomelia, Sandal gap...	OMIM:607143
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Pyridoxal Phosphate-Responsive Seizures	EEG with burst suppression, Unsteady gait, Seizure, Hypertonia, Status epilepticus, Myoclonus	ORPHA:79096
Schindler Disease, Type I	Seizure, Spasticity, Myoclonus	OMIM:609241
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Bruxism	OMIM:300434
Cog8-Cdg	Cerebellar atrophy, Seizure, Ataxia, Myoclonus	ORPHA:95428
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Spastic paraparesis, Palatal tremor, Truncal ataxia	OMIM:113610
Gaucher Disease, Type Iii	Generalized myoclonic seizure, Ataxia, Myoclonus, Spastic paraparesis	OMIM:231000
Lymphoproliferative Syndrome 2	Recurrent pneumonia, EBV encephalitis, Uveitis	OMIM:615122
Cogan Syndrome	Episcleritis, Keratitis, Uveitis, Scleritis, Conjunctivitis, Inflammatory abnormality of the eye	ORPHA:1467
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Eales Disease	Anterior uveitis, Iris neovascularization, Spastic paraparesis	ORPHA:40923
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms	OMIM:619470
Intellectual Developmental Disorder, Autosomal Dominant 45	Cerebral palsy, Bilateral tonic-clonic seizure, Skin rash, Chorea, Generalized non-motor (absence...	OMIM:617600
Spinocerebellar Ataxia 36	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ...	OMIM:614153
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Tapered finger, Long fingers, Gait ...	OMIM:609425
Morquio Syndrome C	Corneal opacity	OMIM:252300
Congenital Rubella Syndrome	Cataract, Corneal opacity, Skin rash, Patent ductus arteriosus, Spastic diplegia, Aplasia/Hypopla...	ORPHA:290
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar...	OMIM:618598
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hypertriglyceridemia	OMIM:614480
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper...	OMIM:301008
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog...	ORPHA:98772
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Hartnup Disorder	Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria	OMIM:234500
Vitreoretinopathy, Neovascular Inflammatory	Uveitis	OMIM:193235
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Corneal scarring	OMIM:301220
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl...	OMIM:620352
Adenylosuccinase Deficiency	Cerebellar atrophy, Inability to walk, Opisthotonus, Gait ataxia, Seizure, Myoclonus, Hemiplegia,...	OMIM:103050
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent...	ORPHA:85436
Relapsing Polychondritis	Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve...	ORPHA:728
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Choreoathetosis, Seizure, Myoclonus, Episodic ataxia	OMIM:312170
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Gait disturbance, Myoclonus	OMIM:600795
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bilateral vocal cord paresis, Flexion contracture, Corneal scarring	OMIM:614653
Mannosidosis, Beta A, Lysosomal	Hearing impairment, Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior	OMIM:248510
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba...	OMIM:609270
Early-Onset Lafora Body Disease	Seizure, Ataxia, Myoclonus, Spastic tetraparesis	ORPHA:324290
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Chorioretinitis, Iritis, Hypopyon	OMIM:109650
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb...	OMIM:164400
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cataract, Chorea, Seizure, Hyperkinetic movements, Difficulty walking, Truncal ataxia	ORPHA:369847
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Agenesis of cerebellar vermis, Corneal opacity, Cataract, Hypoplasia of the...	OMIM:613153
Dystonia 34, Myoclonic	Torticollis, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor	OMIM:619724
Anterior Segment Dysgenesis 3	Rieger anomaly, Cerebellar vermis hypoplasia, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld...	OMIM:601631
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Mucolipidosis Type Iii	Corneal opacity, Acne	ORPHA:577
Neuraminidase Deficiency	Inguinal hernia, Cataract, Slurred speech, Dysmetria, Seizure, Myoclonus	OMIM:256550
Hyperekplexia 3	Exaggerated startle response, Bilateral tonic-clonic seizure, Hiatus hernia, Hypertonia, Myoclonus	OMIM:614618
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx...	OMIM:601559
Nipah Virus Disease	Tremor, Seizure, Infectious encephalitis, Myoclonus	ORPHA:99825
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Chorioretinitis, Panuveitis, Panniculitis, Optic neuritis	OMIM:301081
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Bronchiectasis, Uveitis	OMIM:612387
Glycogen Storage Disease Ixa1	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Brachydactyly, Cataract, Rhizomelia, Short iliac bones, Metaphyseal widening, Elevated circulatin...	OMIM:614376
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Cinca Syndrome	Retrobulbar optic neuritis, Inflammatory abnormality of the eye, Uveitis	ORPHA:1451
Shigellosis	Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Febr...	ORPHA:810
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Optic a...	ORPHA:52368
Systemic-Onset Juvenile Idiopathic Arthritis	Juvenile rheumatoid arthritis, Anterior uveitis, Pericarditis, Skin rash	ORPHA:85414
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Impaired distal vibration sensation, Distal sensory impairment, Steppage gait, Tip-toe gait, Fasc...	OMIM:614436
Juvenile Xanthogranuloma	Uveitis, Blepharitis, Iritis, Asymmetry of iris pigmentation	ORPHA:158000
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Pontocerebellar Hypoplasia, Type 7	Ataxia, Hypoplasia of the pons, Spastic paraplegia, Opisthotonus, Choreoathetosis, Seizure, Hyper...	OMIM:614969
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Seizure, Contractures of the large joints, Hypertonia, Cerebellar hypop...	ORPHA:3078
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Incoordination, Tremor, Inability to walk, Typi...	ORPHA:845
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Epileptic spasm, Hypoplasia of the pons, Vocal cord paralysis, Hypsarrhythmia, Seizure, Myoclonus...	ORPHA:500144
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Progressive cer...	OMIM:277460
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Leprosy	Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, Uveitis, Steppage gait, Pa...	ORPHA:548
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia	OMIM:258865
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Seizure, Hyperkinetic movements	ORPHA:397933
Developmental And Epileptic Encephalopathy 101	Seizure, Limb joint contracture, Myoclonus, Opisthotonus	OMIM:619814
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my...	OMIM:613839
Dystonia 26, Myoclonic	Blepharospasm, Torticollis, Myoclonus	OMIM:616398
Valinemia	Hyperkinetic movements	OMIM:277100
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Abs...	ORPHA:1215
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Hypoplasia of the pons, Hand tremor, Limb ataxia, Hypoplasia of the ventral pons, Tongue ...	OMIM:607596
Congenital Sialidosis Type 2	Inguinal hernia, Cataract, Corneal opacity, Ataxia, Dysmetria, Developmental cataract, Seizure, M...	ORPHA:93400
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, EEG abnormality, Seizure,...	ORPHA:98794
Cysticercosis	Somatic sensory dysfunction, Generalized-onset seizure, Ataxia, Focal-onset seizure, Iridocycliti...	ORPHA:1560
Porphyria Cutanea Tarda	Scarring, Corneal scarring	ORPHA:101330
Developmental And Epileptic Encephalopathy 2	Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Hypsarrhythm...	OMIM:300672
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Unsteady gait, Seizure, Gait disturbance, Myoclonus	ORPHA:412217
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Hyperphenylalaninem...	OMIM:261600
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne...	OMIM:614170
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Conjunctivitis, Chronic otitis media	OMIM:608710
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Peritonitis, Uveitis, Arthritis, Conjunct...	ORPHA:32960
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Sjögren-Larsson Syndrome	Corneal erosion, Abnormal pyramidal sign, Spastic diplegia, Seizure, Spasticity, Inflammatory abn...	ORPHA:816
Gm1-Gangliosidosis, Type Iii	Slurred speech, Ataxia, Opacification of the corneal stroma	OMIM:230650
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthotonus, Seizure, Hy...	OMIM:619847
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Posteriorly rotated ears, Sandal gap, Conductive hearing...	OMIM:618885
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc...	OMIM:600501
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks	ORPHA:2898
Tyrosinemia Type 2	Tremor, Seizure, Corneal opacity, Ataxia	ORPHA:28378
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hypertonia, Myoclonus, Myoclonic seizure	OMIM:618240
Combined Oxidative Phosphorylation Deficiency 34	Congenital sensorineural hearing impairment, Pancytopenia, Elevated circulating creatinine concen...	OMIM:617872
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Low-set ...	OMIM:258860
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Knee flexion contracture, Cer...	OMIM:616531
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Seizure, Broad-based gait, Myoclonus	OMIM:616158
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Mucolipidosis Type Iv	Gait disturbance, Corneal opacity, Ataxia	ORPHA:578
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia, Polyphagia	OMIM:617885
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Loss of ambulation, R...	OMIM:607426
Hereditary Sensory And Autonomic Neuropathy Type 4	Pain insensitivity, Somatic sensory dysfunction, Fasciitis, Impaired temperature sensation, Corne...	ORPHA:642
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Optic Atrophy 11	Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Splen...	OMIM:617302
D-Glyceric Aciduria	Bilateral tonic-clonic seizure, Spastic tetraplegia, Hypsarrhythmia, Opisthotonus, Seizure, Focal...	OMIM:220120
Angelman Syndrome	Keratoconus, Broad-based gait, Ataxia, Infantile spasms, Tremor, Inability to walk, EEG abnormali...	ORPHA:72
Temple Syndrome	Hypertriglyceridemia, Posteriorly rotated ears, Micrognathia, Small hand, Short foot, Hypercholes...	OMIM:616222
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia	ORPHA:1020
Citrullinemia Type Ii	Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper...	ORPHA:247585
Incontinentia Pigmenti	Cataract, Maculopapular exanthema, Keratitis, Uveitis, Seizure, Spasticity	OMIM:308300
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,...	OMIM:109150
Microtriplication 11Q24.1	Keratoconus, Attached earlobe, Posteriorly rotated ears, Metatarsus adductus, Hyperlipidemia, Sma...	ORPHA:289522
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Inability to walk, Flexion contracture, Developmental cataract, Cer...	OMIM:613155
Den Hoed-De Boer-Voisin Syndrome	EEG with focal spike waves, Tremor, Amelogenesis imperfecta, Ataxia, Hypsarrhythmia, EEG abnormal...	OMIM:619229
Hurler-Scheie Syndrome	Rhinitis, Corneal opacity, Abnormal pyramidal sign	ORPHA:93476
Cholesteryl Ester Storage Disease	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Seiz...	ORPHA:464282
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Myoclonus	OMIM:619609
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cataract, Ataxia, Skin rash, Infantile spasms, Chorea, Spastic tetraplegia, Gait ataxia, Seizure,...	OMIM:618321
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status...	OMIM:612949
Neurodevelopmental Disorder With Spasticity And Poor Growth	Ataxia, Clonus, Infantile spasms, Achilles tendon contracture, Babinski sign, Myoclonic seizure, ...	OMIM:618076
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i...	OMIM:601455
Localized Scleroderma	Fasciitis, Uveitis, Seizure, Arthritis, Focal impaired awareness seizure, Esophagitis, Hashimoto ...	ORPHA:90289
Gillespie Syndrome	Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Hypoplasia of the iris, Cerebellar h...	OMIM:206700
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Landau-Kleffner Syndrome	Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive...	ORPHA:98818
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gai...	OMIM:254900
Rift Valley Fever	Skin rash, Paralysis, Paraparesis, Hepatitis, Uveitis, Hemiparesis, Decerebrate rigidity, Infecti...	ORPHA:319251
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Limb hypertonia	OMIM:233910
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Griscelli Syndrome Type 1	Retinopathy, Hyperlipidemia, Ataxia, Iris hypopigmentation	ORPHA:79476
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Sensorineural hearing impa...	OMIM:612541
Generalized Pustular Psoriasis	Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma	ORPHA:247353
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Seizure, Astigmatism, Spastic paraparesis, Spasticity	OMIM:270200
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Polyphagia, Orthostati...	ORPHA:66628
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor...	OMIM:619927
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic astigmatism, My...	OMIM:152950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Speech apraxia, Waddling gait, Cataract, Ataxia, Tremor, Inability to walk, C...	OMIM:615356
Erythrokeratodermia Variabilis	Skin rash, Cataract, Corneal opacity	ORPHA:317
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Seizure, Corneal opacity, Developmental cataract	OMIM:618815
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Babinski sign, ...	ORPHA:364028
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Myoclonic seizure, EEG abnormality, Seizure, Myoclonus	OMIM:614946
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ataxia, Ocular albinism, Abnormal pyramidal sign, Spastic tetraplegia,...	ORPHA:2719
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait...	OMIM:168601
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper limb spasticity, G...	ORPHA:457240
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy...	OMIM:616973
Neuroferritinopathy	Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk...	ORPHA:157846
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Polyphagia, Orthostati...	ORPHA:179494
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ...	ORPHA:64280
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Dysmetria,...	ORPHA:139396
Episodic Ataxia Type 7	Episodic ataxia, Hyperkinetic movements	ORPHA:209970
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopigmentati...	ORPHA:167
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Seizure, Hyperkinetic movem...	OMIM:300957
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia	OMIM:619013
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon...	ORPHA:309155
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Reni Syndrome	Hypertriglyceridemia, Ataxia, Sensorineural hearing impairment, Hypoalbuminemia, Lymphopenia	OMIM:617575
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Cataract, Iridocyclitis, Chronic mucocutaneous cand...	OMIM:240300
Autoimmune Hypoparathyroidism	Cataract, Chronic mucocutaneous candidiasis, Conjunctivitis, Paresthesia, Myoclonic spasms, Hypoc...	ORPHA:36913
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Gait disturbance, Fasciculations	OMIM:608030
D-Glyceric Aciduria	Seizure, Chorea, Myoclonus, Spasticity	ORPHA:941
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Cataract, Ataxia, Impaired distal proprioception, Hypoesthesia, Babinski sign, ...	OMIM:607459
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals	OMIM:219750
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Cataract, Limb joint contracture, Tremor, Myocl...	OMIM:620327
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Broad finger, Astigmatism, Abnormal auditory evoked potentials	OMIM:617523
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr...	OMIM:603553
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Short ...	OMIM:268305
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Porphyria, Congenital Erythropoietic	Atypical scarring of skin, Joint contracture of the hand, Conjunctivitis, Corneal scarring	OMIM:263700
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Ataxia, Photosensitive tonic-clonic seizure, Loss of ability to walk in first...	OMIM:300243
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Babinski sign, D...	ORPHA:88644
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur...	ORPHA:206443
Japanese Encephalitis	Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Weakness due to upper ...	ORPHA:79139
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl...	ORPHA:466722
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo...	ORPHA:158048
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity	OMIM:614299
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Sandal gap, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flappi...	OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive...	OMIM:615541
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Gomez-Lopez-Hernandez Syndrome	Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia...	OMIM:601853
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Skin rash, An...	ORPHA:91500
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism...	OMIM:618718
Plin1-Related Familial Partial Lipodystrophy	Calf muscle hypertrophy, Hypertriglyceridemia	ORPHA:280356
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, Hi...	ORPHA:85408
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty...	OMIM:119100
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Corneal scarring, Developmental cataract, Seizure, Keloids, Enamel hypop...	OMIM:309000
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,...	OMIM:615960
Unilateral Polymicrogyria	Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S...	ORPHA:268943
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Corneal opacity, Eczema, Keratitis, Corneal erosion, Cheilitis, Uveitis, Scleritis,...	ORPHA:2273
Multicentric Carpotarsal Osteolysis Syndrome	Inability to walk, Corneal opacity	OMIM:166300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Gm1 Gangliosidosis	Corneal opacity, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Patent du...	ORPHA:354
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Parkinsonian-Pyramidal Syndrome	Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Shufflin...	ORPHA:171695
Brachyolmia Type 1, Toledo Type	Gait disturbance, Opacification of the corneal stroma	OMIM:271630
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Tetraplegia, Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculations	OMIM:604484
Osteoporosis-Pseudoglioma Syndrome	Loss of ambulation, Corneal opacity, Waddling gait	ORPHA:2788
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Autoimmune thrombocytopenia, Se...	ORPHA:760
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia	OMIM:177000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Cataract, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar cyst	OMIM:615181
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia, Iri...	ORPHA:411515
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Tongue fasciculations, Fasciculations	OMIM:613435
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Retinopathy	ORPHA:71
Caribbean Parkinsonism	Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive...	ORPHA:97355
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Blepharitis, Corneal neovascula...	ORPHA:163934
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment...	OMIM:109120
Multiple Sulfatase Deficiency	Cerebellar atrophy, Spasticity, Corneal opacity, Ataxia	OMIM:272200
C3 Glomerulopathy	Drusen, Yellow/white lesions of the retina, Central serous chorioretinopathy, Elevated circulatin...	ORPHA:329918
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se...	OMIM:619827
Brucellosis	Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit...	ORPHA:1304
Osteopetrosis, Autosomal Recessive 9	Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	EEG abnormality, Spasticity, Seizure, Myoclonus	OMIM:246450
Familial Dysautonomia	Ataxia, Corneal opacity, Impaired pain sensation, Abnormal pupil morphology, Corneal erosion, Sei...	ORPHA:1764
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decreased nerve conduction...	ORPHA:206436
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Ataxia, Tremor, Inability to walk, Slurred speech, Bronch...	OMIM:208900
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Cataract, Corneal scarring, Chiari type I malformation, EEG abnormality, Seizure, Chiari malforma...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Cataract, Corneal scarring, Chiari type I malformation, EEG abnormality, Seizure, Chiari malforma...	ORPHA:353277
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Ataxia, Sensorineural hearing impairment, Abnormal granulocyte morphology, ...	ORPHA:98907
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal ton...	ORPHA:314655
Nephronophthisis-Like Nephropathy 2	Polydipsia, Elevated circulating creatinine concentration	OMIM:619468
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Seizure, Status epilepticus, Abnorma...	OMIM:615673
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Recurrent otitis media, Conjunctivitis, Corneal opacity	OMIM:602562
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Femoral b...	OMIM:608940
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Hyperopic astigmatism, Cone-s...	ORPHA:397973
Alstrom Syndrome	Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Pes planus, Hypertriglyceridemi...	OMIM:203800
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98855
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ...	OMIM:612953
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs...	OMIM:619777
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis...	OMIM:608643
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Seizure, Joint contracture, Myoclonus	OMIM:614462
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Sensorineural hearing impairm...	ORPHA:540
Alpha-Mannosidosis	Chronic otitis media, Arthritis, Cataract, Corneal opacity	ORPHA:61
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin...	ORPHA:529799
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Cont...	OMIM:620141
Lathosterolosis	Cataract, Microcornea, Seizure, Chiari malformation, Myoclonus, Opacification of the corneal stro...	ORPHA:46059
Werner Syndrome	Cataract, Elevated hemoglobin A1c, Retinal degeneration, Hypertriglyceridemia	OMIM:277700
Scheie Syndrome	Rhinitis, Cerebral palsy, Corneal opacity, Spastic paraparesis	ORPHA:93474
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Polyphagia, Aggressive behavior	ORPHA:329249
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Seizure, Ataxia, Myoclonus, Aspiration pneumonia	OMIM:619167
Oculocerebrocutaneous Syndrome	Corneal opacity, Hemiplegia/hemiparesis, Seizure, Cerebellar hypoplasia, Abnormal cerebellar verm...	ORPHA:1647
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Ataxia, Postural tremor, Seborrheic dermatitis, Babinski sign, Seizure, Lower...	OMIM:301072
Charcot-Marie-Tooth Disease Type 1F	Restless legs, Absent brainstem auditory responses, Flexion contracture of finger, Optic nerve hy...	ORPHA:101085
Immunodeficiency 23	Somatic sensory dysfunction, Membranoproliferative glomerulonephritis, Ataxia, Eczema, Allergic r...	OMIM:615816
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Elevated plasm...	OMIM:603471
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Orofaciodigital Syndrome Type 3	Cerebellar vermis hypoplasia, Focal seizure with eyelid myoclonia, Myoclonus, Oculomotor apraxia,...	ORPHA:2752
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Cerebrotendinous Xanthomatosis	Abnormal pyramidal sign, Abnormal motor evoked potentials, Juvenile cataract, Abnormal cerebellar...	ORPHA:909
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Short fourth metatarsal, Short metacarpal, Aggressive behavior, Sensorineural hear...	OMIM:600430
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles...	OMIM:615947
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Serotonin Syndrome	Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus, Mydriasis	ORPHA:43116
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Microcornea, Seizure, Chorioretinal coloboma, Inferior cerebellar vermis ...	ORPHA:139471
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia	OMIM:612716
Hallermann-Streiff Syndrome	Cerebellar hypoplasia, Uveitis, Developmental cataract	ORPHA:2108
Bilateral Perisylvian Polymicrogyria	EEG with polyspike wave complexes, EEG with parietal focal spikes, Lower limb spasticity, EEG wit...	ORPHA:98889
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Diffuse cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Hyperphosphatasia-Intellectual Disability Syndrome	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Seizure, Shallow anter...	ORPHA:247262
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Linear Verrucous Nevus Syndrome	Cataract, Seizure, Abnormal cornea morphology, Iris coloboma, Dandy-Walker malformation	ORPHA:2611
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Seizure, Hypertonia, Gait disturbance, Hyperkinetic movements	OMIM:236270
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Finger swelling, Conjunctivitis, Lymphopeni...	OMIM:617591
Seckel Syndrome 10	Microretrognathia, Retinal detachment, Hypertriglyceridemia, Elevated hemoglobin A1c, Metaphyseal...	OMIM:617253
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Posterior uveitis	OMIM:605808
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Myoclonus	OMIM:560000
Multiple Mitochondrial Dysfunctions Syndrome 1	Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyramidal motor func...	OMIM:605711
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Mend Syndrome	Hyperactivity, Cataract, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Aggr...	ORPHA:401973
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98863
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Coach Syndrome 2	Elevated circulating creatinine concentration, Chorioretinal coloboma	OMIM:619111
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu...	ORPHA:2751
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98853
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Birdshot Chorioretinopathy	Cataract, Abnormal chorioretinal morphology, Choroidal neovascularization, Abnormal choroid morph...	ORPHA:179
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Fatal Familial Insomnia	Ataxia, Myoclonus	OMIM:600072
Vernal Keratoconjunctivitis	Scarring, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea...	ORPHA:70476
Sympathetic Ophthalmia	Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber, Posterior uveitis,...	ORPHA:79098
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia, Hypoplasia...	ORPHA:239
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Eczema, Inabil...	OMIM:617799
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Blau Syndrome	Pericarditis, Cataract, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Irido...	ORPHA:90340
3-Methylglutaconic Aciduria, Type Iv	Inguinal hernia, Cerebellar dysplasia	OMIM:250951
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Acromelic Frontonasal Dysostosis	Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly...	OMIM:603671
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Hyperactivity, Cataract, Abnormal pinna morphology, Short metacarp...	OMIM:123450
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Pgm3-Cdg	Membranoproliferative glomerulonephritis, Ataxia, Eczema, Allergic rhinitis, Osteomyelitis, Recur...	ORPHA:443811
Bloom Syndrome	Skin rash, Pneumonia, Cheilitis, Uveitis, Rhinitis, Otitis media	ORPHA:125
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Se...	OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Cerebellar cyst, Spasticity, Buphthalmos, EEG abnormality, Seizure, Myoclonus, Opacific...	OMIM:253280
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Macrotia, Abnormal repetitiv...	ORPHA:391307
Autoimmune Lymphoproliferative Syndrome	Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Seizure, Arthritis, Colitis, Pann...	ORPHA:3261
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine concentration, H...	ORPHA:470
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop...	ORPHA:444463
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Brain-Lung-Thyroid Syndrome	Incoordination, Ataxia, Involuntary movements, Chorea, Recurrent pneumonia, Clumsiness, Choreoath...	ORPHA:209905
Walker-Warburg Syndrome	Cataract, Corneal opacity, Chorioretinal dysplasia, Microcornea, Seizure, Cerebellar hypoplasia, ...	ORPHA:899
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Micrognathia, Absent radius...	ORPHA:3320
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypertonia, Myoclonus, Spast...	OMIM:618426
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Talipes equinov...	OMIM:608104
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Marburg Hemorrhagic Fever	Pericarditis, Maculopapular exanthema, Skin rash, Dysesthesia, Orchitis, Uveitis, Atypical absenc...	ORPHA:99826
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Fibular hypoplasia, Lateral humeral condyle aplasia, Opacification of ...	OMIM:164900
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Listeriosis	Somatic sensory dysfunction, Pericarditis, Ataxia, Pneumonia, Osteomyelitis, Tremor, Pustule, Per...	ORPHA:533
Senior-Loken Syndrome 1	Polydipsia, Retinal dystrophy, Elevated circulating creatinine concentration, Anemia	OMIM:266900
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Patent ductus arteriosus, Corneal opacity	OMIM:618961
Farber Disease	Corneal opacity, Infantile spasms, Paraparesis, Seizure, Abnormal conjunctiva morphology, Arthrit...	ORPHA:333
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls	OMIM:184850
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Long toe, Hyperactivity, Optic nerve hypoplasia, Hyperopic astigmatism, Micrognathia, Long finger...	ORPHA:363686
Microcephaly-Capillary Malformation Syndrome	Seizure, Spastic tetraparesis, Myoclonus, Infantile spasms	OMIM:614261
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Hearing impairment	OMIM:616733
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia	OMIM:604367
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Corneal opacity, Involuntary movements, Chorea, Dysmetria, Myoclonic seizure,...	OMIM:615273
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Stickler Syndrome	Cataract, Ectopia lentis, Hemiplegia/hemiparesis, Osteoarthritis, Uveitis, Astigmatism, Chronic o...	ORPHA:828
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Micrognathia,...	OMIM:618150
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia	OMIM:301080
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Generalized-onset seizure, Loss of ability to walk in early childhood, Infantile spasms, Inabilit...	OMIM:612073
Wilson Disease	Hepatitis, Clumsiness, Kayser-Fleischer ring, Arthritis, Difficulty walking, Acute hepatitis	ORPHA:905
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration, Bowing of the legs	OMIM:615605
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Decreased nerve conduction velocity, Sp...	OMIM:609136
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Pneumonia	ORPHA:1867
Niemann-Pick Disease Type C	Speech apraxia, Lower limb spasticity, Generalized-onset seizure, Ataxia, Tremor, Focal-onset sei...	ORPHA:646
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small p...	ORPHA:96334
Syndromic Recessive X-Linked Ichthyosis	Seizure, Corneal opacity	ORPHA:281090
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Sensorineural hearing impairment, Hypertriglyceridemia, Micrognathia	OMIM:615381
Developmental And Epileptic Encephalopathy 89	Cerebellar atrophy, Omphalocele, Epileptic spasm, Bilateral tonic-clonic seizure with generalized...	OMIM:619124
Mandibuloacral Dysplasia	Hypertriglyceridemia, Micrognathia, Increased circulating free fatty acid level, Short clavicles,...	ORPHA:2457
Cystinosis	Corneal opacity, Abnormal pyramidal sign, Gait disturbance	ORPHA:213
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Hyperactivity, Blue irides, Short metatarsal, Advanced ossification of carpal b...	OMIM:614613
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, Preaxial polydactyly...	ORPHA:163681
Enthesitis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Knee osteoarthritis, Oligoarthritis, Enthesitis, Arthritis, Sacroiliac arthriti...	ORPHA:85438
Molybdenum Cofactor Deficiency, Complementation Group B	Bilateral tonic-clonic seizure, Ectopia lentis, Lens luxation, Spastic tetraplegia, Opisthotonus,...	OMIM:252160
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227990
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte...	OMIM:263520
Spondyloepimetaphyseal Dysplasia, Missouri Type	Waddling gait, Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowi...	OMIM:602111
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Pes planus, Hypertriglyceridemia, Arachnodactyly, Sandal gap, Phalangeal dislocati...	ORPHA:536532
H Syndrome	Hallux valgus, Pes planus, Histiocytosis, Hypertriglyceridemia, Microcytic anemia, Hepatosplenome...	ORPHA:168569
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity, Blepharitis	OMIM:602400
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Myoclonus	ORPHA:168593
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Cataract, Posteriorly rotated ears, Elevated circulating creatine kinase concentration,...	OMIM:608836
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia, Iris hypopigmentation	ORPHA:79477
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Impaired vibration sensation in the lower limbs, Clumsiness, Steppage gait, Fasciculations, Frequ...	ORPHA:521411
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Symblepharon, Pneumonia, Kerat...	ORPHA:95455
Arthrogryposis, Distal, Type 2A	Hip contracture, Shoulder flexion contracture, Abnormal auditory evoked potentials, Hearing impai...	OMIM:193700
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Antiphospholipid Syndrome, Familial	Keratitis, Scleritis, Iritis	OMIM:107320
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227982
Fucosidosis	Corneal opacity, Abnormal pyramidal sign, Spastic tetraplegia, Seizure, Spasticity	ORPHA:349
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Seizure, Hyperkinetic...	ORPHA:391428
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Retinoblastoma	Hypopyon, Heterochromia iridis, Leukocoria, Uveitis	ORPHA:790
African Trypanosomiasis	Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, Abnormal central motor ...	ORPHA:3385
Scheie Syndrome	Corneal opacity	OMIM:607016
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Cataract, Tremor, ...	ORPHA:466768
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Normocytic anemia, Abnormal retinal vascular morphology, Avascular necr...	ORPHA:247691
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Large hands, Hypercholesterolemia, Long foot, Increased C-peptide level	ORPHA:528
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Abnormal pinna morphology, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic...	OMIM:617925
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Autoimmune thrombocytopeni...	ORPHA:77293
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Inflammatory abnormality of the eye, Zonular cataract, ...	ORPHA:39044
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Primary Sclerosing Cholangitis	Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Pancreatitis	ORPHA:171
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia, Pedal edema	OMIM:152800
Neuroblastoma, Susceptibility To, 1	Ataxia, Myoclonus	OMIM:256700
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Sarcoidosis, Susceptibility To, 1	Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine, Chorioret...	OMIM:181000
Seckel Syndrome 1	11 pairs of ribs, Pes planus, Hyperactivity, Ivory epiphyses, Abnormal pinna morphology, Abnormal...	OMIM:210600
Leukodystrophy, Hypomyelinating, 10	Inability to walk, Babinski sign, Seizure, Hyperkinetic movements, Spasticity	OMIM:616420
Neurodevelopmental Disorder With Or Without Autism Or Seizures	EEG with burst suppression, Hyperactivity, Absent thumb, Hypsarrhythmia	OMIM:619239
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Leigh Syndrome	Cerebellar atrophy, Cataract, Ataxia, Involuntary movements, Infantile spasms, Eczema, Chorea, Sp...	ORPHA:506
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Partial absence of cerebellar vermis, Buphthalmos, Seizure, Congenital contracture, Per...	OMIM:613150
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are...	ORPHA:3240
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Paralysis, Hypertonia, Status epileptic...	OMIM:203700
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad-based gait, Cerebellar vermis hypoplasia, Corneal opacity, Corneal dystrophy, Hypoplasia of...	ORPHA:495875
Combined Oxidative Phosphorylation Deficiency 57	Seizure, Myoclonus	OMIM:620167
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Lowry-Maclean Syndrome	Corneal opacity, Developmental glaucoma, Hemiparesis, Seizure, Megalocornea	ORPHA:2409
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Cockayne Syndrome A	Hip contracture, Cataract, Ataxia, Retinal atrophy, Abnormal auditory evoked potentials, Abnormal...	OMIM:216400
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia	OMIM:616881
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Facial diplegia, Hyp...	ORPHA:31150
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Ectopia lentis, Lens luxation, Spastic tetraplegia, Opisthotonus, Seizure, ...	OMIM:252150
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Cataract, Corneal opacity, Ataxia, Pneumonia, Spastic paraplegia, Clumsiness,...	ORPHA:309282
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Micrognathia, Multifocal epileptiform discharges, Upper limb...	ORPHA:369837
Zellweger Syndrome	Cataract, Corneal opacity, Abnormal chorioretinal morphology, Brushfield spots, Seizure, Posterio...	ORPHA:912
Microphthalmia With Limb Anomalies	Toe syndactyly, Posteriorly rotated ears, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous s...	OMIM:206920
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia	OMIM:613027
19P13.12 Microdeletion Syndrome	Finger syndactyly, Hyperactivity, Toe clinodactyly, Sandal gap, External ear malformation, Hyperl...	ORPHA:254346
De Barsy Syndrome	Cerebellar vermis hypoplasia, Corneal opacity, Cataract, Patent ductus arteriosus, Athetosis, Pro...	ORPHA:2962
Combined Oxidative Phosphorylation Deficiency 11	Seizure, Myoclonus, Tongue fasciculations	OMIM:614922
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor...	ORPHA:99027
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Hepatosplenomegaly, Increased circulating...	ORPHA:444490
Pseudo-Torch Syndrome 1	Cataract, Patent ductus arteriosus, Seizure, Cerebellar hypoplasia, Opacification of the corneal ...	OMIM:251290
Stankiewicz-Isidor Syndrome	Hyperactivity, Micrognathia, Absent thumb, Short thumb, 2-3 toe syndactyly, Abnormal optic disc m...	OMIM:617516
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Minimal change glomerulonephritis, Focal hemiclonic seizure, Hemiparesis, Seizur...	ORPHA:1830
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Mucopolysaccharidosis, Type Ivb	Ataxia, Corneal opacity, Opacification of the corneal stroma	OMIM:253010
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Hypertriglyceridemia	ORPHA:2348
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Corneal opacity, Focal-onset seizure, Babinski sign, Polycoria, Developmental...	OMIM:175780
Joubert Syndrome 1	Hemifacial spasm, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Oculomotor...	OMIM:213300
Mucopolysaccharidosis Type 3	Vocal cord paresis, Cataract, Corneal opacity, Ataxia, Abnormal pyramidal sign, Seizure, Hyperton...	ORPHA:581
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Hyperactivity, Congenital hip dislocation, Retinal...	OMIM:617052
Paternal Uniparental Disomy Of Chromosome 1	Seizure, Pain insensitivity, Membranoproliferative glomerulonephritis, Myoclonus	ORPHA:251004
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Pseudohypoparathyroidism Type 1B	Cataract, Conjunctivitis, Paresthesia, Myoclonic spasms, Hypocalcemic seizures	ORPHA:94089
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spastic hemiparesis, Hypsarrhythmia, EEG abnormality, Seizure, Myoclonus, Spasticity	ORPHA:20
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Accessory spleen, Hypertriglyceridemia, Macular atrophy, Splenomegaly, Bilater...	OMIM:619418
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br...	ORPHA:306674
Leptospirosis	Pericarditis, Skin rash, Hepatitis, Uveitis, Chorioretinitis, Optic neuritis, Conjunctival hyperemia	ORPHA:509
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Tularemia	Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Conjunctival hyperemia, Inf...	ORPHA:3392
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism, Myoclonus	ORPHA:1352
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Seizure, Astigmatism, Corneal opacity, Cerebellar hypoplasia	OMIM:301056
Fanconi-Bickel Syndrome	Bowing of the long bones, Hypertriglyceridemia, Generalized aminoaciduria, Hypophosphatemia	ORPHA:2088
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Ethylene Glycol Poisoning	Ataxia, Gastritis, Slurred speech, Renal tubular epithelial necrosis, Seizure, Myoclonus	ORPHA:31826
Alagille Syndrome 1	Hypoplasia of the ulna, Cataract, Hypertriglyceridemia, Band keratopathy, Macrotia, Chorioretinal...	OMIM:118450
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Melas	Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Hem...	ORPHA:550
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Multiple joint contractures, Bilateral tonic-clonic seizure, Clonus, Infan...	ORPHA:447997
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ...	ORPHA:229717
Sarcoidosis	Cataract, Maculopapular exanthema, Erythema nodosum, Bronchiectasis, Uveitis, Tubulointerstitial ...	ORPHA:797
Scorpion Envenomation	Hemifacial spasm, Acute pancreatitis, Ataxia, Tremor, Myocarditis, Seizure, Hyperkinetic movement...	ORPHA:466677
Trisomy 10P	Thumb contracture, Posteriorly rotated ears, Abnormal auditory evoked potentials, Micrognathia, E...	ORPHA:171929
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Lipodystrophy, Congenital Generalized, Type 4	Splenomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:613327
Microphthalmia, Isolated, With Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea	OMIM:615145
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Cockayne Syndrome B	Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conductio...	OMIM:133540
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Eczema, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Cidec-Related Familial Partial Lipodystrophy	Calf muscle hypertrophy, Hypertriglyceridemia	ORPHA:435651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Buphthalmos, Seizure, Cerebellar hypoplasia, Peters anomaly, Cerebella...	OMIM:236670
9P13 Microdeletion Syndrome	Recurrent otitis media, Myoclonus, Hand tremor	ORPHA:324313
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus	OMIM:619055
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ...	OMIM:274150
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d...	ORPHA:206448
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperchol...	ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en...	ORPHA:264580
Opsoclonus-Myoclonus Syndrome	Rigidity, Limb myoclonus, Ataxia, Myoclonus	ORPHA:1183
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno...	ORPHA:411634
Xp21 Deletion Syndrome	Finger clinodactyly, Calf muscle hypertrophy, Hypertriglyceridemia, Elevated circulating creatine...	ORPHA:261476
Oligomeganephronia	Micrognathia, Optic disc coloboma, Elevated circulating creatinine concentration, Polydipsia, Hea...	ORPHA:2260
Methanol Poisoning	Hyperlipidemia, Addictive alcohol use, Abnormal optic nerve morphology	ORPHA:31825
Nmda Receptor Encephalitis	Generalized-onset seizure, Involuntary movements, Rigidity, Focal-onset seizure, EEG with tempora...	ORPHA:217253
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Paresthesia, Myoclonic spasms	ORPHA:94090
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acroosteolysis of distal phalanges...	ORPHA:280365
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Paralysis, Rigidity, Tetraplegia, Hemiparesis, Seizure, Hypertonia, Hemiplegia, ...	ORPHA:2396
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Hyperuricemia, Elevated circulating creatinine concentration, Self-mutilation	ORPHA:79233
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Broad-based gait, Cataract, Ataxia, Sensorineural hearing impairment, Dysmetria, Dys...	OMIM:616541
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Cataract, Hypertriglyceridemia, Dysmetria, Gait ataxia, Developmental ca...	OMIM:606721
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C...	OMIM:619846
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso...	OMIM:610042
Pediatric-Onset Graves Disease	Keratitis, Episcleritis, Hyperkinetic movements, Tremor	ORPHA:525731
Chromosome 6Pter-P24 Deletion Syndrome	Patent ductus arteriosus, Seizure, Axenfeld anomaly, Opacification of the corneal stroma, Peters ...	OMIM:612582
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Hypoplasia of the iris, Seizure, Cerebellar hypoplasia, Limbal dermoid, Dandy-Walke...	OMIM:613001
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Increased circulating guanosine concentration,...	OMIM:613179
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Fibrochondrogenesis 1	Hypoplastic scapulae, Abnormal pinna morphology, Rhizomelia, Dumbbell-shaped long bone, Broad lon...	OMIM:228520
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Poliomyelitis	Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations, I...	ORPHA:2912
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Al-Gazali Syndrome	Recurrent pneumonia, Corneal opacity, Sclerocornea	OMIM:609465
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes...	ORPHA:275761
Mucopolysaccharidosis Type 1	Sinusitis, Corneal opacity, Hemiplegia/hemiparesis, Paresthesia, Chronic otitis media	ORPHA:579
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Cataract, Hearing impairment, Thrombocytopenia, Reticulocytopeni...	ORPHA:508542
Malt Lymphoma	Posterior uveitis	ORPHA:52417
Pseudohypoparathyroidism Type 1A	Cataract, Involuntary movements, Band keratopathy, Choreoathetosis, Conjunctivitis, Paresthesia, ...	ORPHA:79443
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Macrocytic ane...	OMIM:250250
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili...	OMIM:617237
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Unsteady gait, Choreoathetosis, Seizure, Hypertonia, Hyperkinetic movem...	ORPHA:17
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Oculoauricular Syndrome	Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po...	OMIM:612109
Coloboma, Ocular, Autosomal Dominant	Corneal opacity, Chorioretinal coloboma, Peters anomaly	OMIM:120200
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Inflammatory abnormality of the eye	ORPHA:93262
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Cataract, Ataxia, Spastic tetraplegia, Hypoplasia of the iris, Seizure, Opaci...	OMIM:251300
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hy...	OMIM:618183
Multiple Sulfatase Deficiency	Seizure, Cataract, Corneal opacity	ORPHA:585
Vici Syndrome	Cataract, Elevated circulating creatine kinase concentration, Macular atrophy, Micrognathia, Sens...	OMIM:242840
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phalanx of finger, Abnormal ...	ORPHA:508533
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Abscess, Abnormality of the lower limb, Eleva...	ORPHA:36234
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Pes cavus, Elevated circulating creatin...	OMIM:615980
Schimke Immunoosseous Dysplasia	Waddling gait, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplasia of the capital femoral epi...	OMIM:242900
Tbck-Related Intellectual Disability Syndrome	Multifocal seizures, Corneal opacity, Eczema, Inability to walk, Seizure	ORPHA:488632
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Corneal opacity, General...	ORPHA:2072
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Elevated circulating creatinine concentration, Recurrent corneal erosion...	OMIM:223900
Stromme Syndrome	Cerebellar vermis hypoplasia, Cataract, Sclerocornea, Microcornea, Cerebellar hypoplasia, Peters ...	OMIM:243605
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Gaucher Disease	Osteomyelitis, Corneal opacity, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic sei...	ORPHA:355
46,Xy Sex Reversal 4	Micrognathia, Sensorineural hearing impairment, Elevated circulating creatinine concentration, Mi...	OMIM:154230
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen...	ORPHA:79330
Mucopolysaccharidosis Type 4	Corneal opacity, Gait disturbance	ORPHA:582
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Decreased HDL cholesterol concentration, Flexion contracture of finger, Hypertrigl...	OMIM:256040
Hurler Syndrome	Cerebral palsy, Corneal opacity, Abnormal pyramidal sign, Rhinitis, Spastic paraparesis	ORPHA:93473
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula...	ORPHA:958
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting	OMIM:618314
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Seizure, Aniridia, Iris coloboma	ORPHA:251038
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Dyrk1A-Related Intellectual Disability Syndrome	Corneal opacity, Eczema, Patent ductus arteriosus, Seizure, Astigmatism, Gait disturbance, Febril...	ORPHA:464306
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Inability to walk, Unsteady gait, Focal motor seizure, EEG abnormality, My...	ORPHA:3063
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Retinal degeneration, Acanthocytosis, Abnormal foot morphology, ...	OMIM:234200
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Palmoplantar hyperhidrosis, Palmoplantar keratoderma	OMIM:610644
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Wagro Syndrome	Aniridia, Cataract, Corneal opacity	OMIM:612469
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Sanjad-Sakati Syndrome	Seizure, Astigmatism, Corneal opacity	ORPHA:2323
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Charge Syndrome	Micrognathia, Hand monodactyly, Hypocalcemia, Iris coloboma, Self-mutilation, Hypoplasia of the u...	OMIM:214800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hyperchole...	ORPHA:79259
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Pseudohypoparathyroidism Type 1C	Cataract, Conjunctivitis, Paresthesia, Myoclonic spasms, Hypocalcemic seizures	ORPHA:79444
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Decreased fibular diameter, Micrognath...	OMIM:619127
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Anorexia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lymphop...	ORPHA:169160
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Hypoplasia of the thymus, Small earlobe, Genu varum, Long toe, Large hands, Low-set...	OMIM:264090
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Iris coloboma, Sclerocornea	ORPHA:77298
Omodysplasia 2	Short humerus, Posteriorly rotated ears, Micrognathia, Fibular hypoplasia, Hypoplastic distal hum...	OMIM:164745
Oromandibular Dystonia	Blepharospasm, Torticollis, Hyperkinetic movements	ORPHA:93958
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Kinsship Syndrome	Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ...	OMIM:619297
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Mucopolysaccharidosis Type 7	Corneal opacity, Hepatitis	ORPHA:584
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Corneal opacity, Simple febrile seizure, Patent ductus arteriosus, Seizure, Astigmatism, Gait dis...	ORPHA:464311
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Elevated circulating creatinine concentration, Anemia, Increased blood u...	ORPHA:230
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Ataxia, Keratitis, Spasticity, Seizure, Abnormality of ext...	ORPHA:910
Schimmelpenning-Feuerstein-Mims Syndrome	Seizure, Corneal opacity	OMIM:163200
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Takayasu Arteritis	Seizure, Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis	ORPHA:3287
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Cataract, Corneal opacity	ORPHA:2399
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Narrow greater sciatic not...	OMIM:617425
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Developmental cataract	OMIM:616603
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Clonus, ...	ORPHA:649
Phace Syndrome	Cataract, Sclerocornea, Hemiplegia/hemiparesis, Lens coloboma, Seizure, Cerebellar hypoplasia, He...	ORPHA:42775
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Pontocerebellar Hypoplasia Type 7	Involuntary movements, Olivopontocerebellar hypoplasia, Seizure, Hypertonia, Myoclonus, Fascicula...	ORPHA:284339
Acquired Generalized Lipodystrophy	Calf muscle pseudohypertrophy, Abnormal circulating lipid concentration, Hypertriglyceridemia	ORPHA:79086
Tibial Hemimelia	Absent tibia	OMIM:275220
Histiocytoid Cardiomyopathy	Corneal opacity, Seizure, Hemiplegia, Cerebellar malformation, Megalocornea, Congenital aphakia	ORPHA:137675
Gorlin-Chaudhry-Moss Syndrome	Patent ductus arteriosus, Astigmatism, Sclerocornea	ORPHA:2095
Hurler Syndrome	Recurrent otitis media, Corneal opacity, Opacification of the corneal stroma	OMIM:607014
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Progressive flexion contractures, Chorea, EEG with focal sharp waves, Choreoathetosis, EE...	ORPHA:522077
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ...	ORPHA:49041
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity, Gait disturbance	OMIM:259600
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Micrognathia, Optic atrophy, Dysmetria, Knee flexion contracture, Bilateral talipes equin...	OMIM:619708
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c, Long foot, Splenomegaly, Large hands, Macrotia, Po...	OMIM:269700
Flotch Syndrome	Inflammatory abnormality of the eye, Blepharitis	ORPHA:2045
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Autoimmune Polyendocrinopathy Type 1	Chronic mucocutaneous candidiasis, Cataract, Opacification of the corneal stroma	ORPHA:3453
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Abnormal medulla oblongat...	ORPHA:297
Wilson Disease	Poor motor coordination, Tremor, Rigidity, Hypoesthesia, Osteoarthritis, Atypical or prolonged he...	OMIM:277900
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Long foot, Splenomegaly, Large hands, Macrotia, Polyphagia	OMIM:608594
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Talipes calcaneovalgus, Dysdia...	OMIM:610217
Focal Dermal Hypoplasia	Corneal opacity, Ectopia lentis, Patent ductus arteriosus, Hypoplasia of the iris, Chorioretinal ...	ORPHA:2092
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Brushfield spots, Patent ductus arteriosus, Unsteady gait, Seizure, Opacification of th...	OMIM:214100
Atypical Werner Syndrome	Pes planus, Abnormality of retinal pigmentation, Hypertriglyceridemia, Rocker bottom foot, Microg...	ORPHA:79474
Mirage Syndrome	Hyponatremia, Rocker bottom foot, Radial club hand, Thrombocytopenia, Hyperkalemia, Leukopenia, T...	OMIM:617053
Autosomal Dominant Hypocalcemia	Paresthesia, Eczema, Cortical myoclonus	ORPHA:428
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Hypoplastic vertebral bodies, Long toe, Ataxia, 2-3 toe syndactyly, Low-se...	ORPHA:3455
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Hyperactivity, Autoimmune hemolytic anemia, Sandal gap, Micrognathia...	OMIM:251260
Mucopolysaccharidosis Type 2	Papilledema, Hyperactivity, Abnormality of retinal pigmentation, Corneal opacity, Otosclerosis, I...	ORPHA:580
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Cataract, Generalized-onset seizure, Brushfield spots, Seizure, Athetosis, Ce...	OMIM:614866
Hurler-Scheie Syndrome	Corneal opacity	OMIM:607015
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Neurofibromatosis Type 1	Cataract, Corneal opacity, Ataxia, Seizure, Paresthesia, Chorioretinal coloboma, Lisch nodules, H...	ORPHA:636
Mosaic Trisomy 9	Patent ductus arteriosus, Corneal opacity, Dandy-Walker malformation	ORPHA:99776
Mend Syndrome	Microretrognathia, Hyperactivity, Cataract, Posteriorly rotated ears, Broad hallux, Overlapping t...	OMIM:300960
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Mucoepithelial Dysplasia, Hereditary	Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis...	OMIM:158310
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial h...	OMIM:236680
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Posteriorly rotated ears, Hypoplastic scapulae, Micrognat...	OMIM:200980
Fryns Syndrome	Seizure, Corneal opacity, Dandy-Walker malformation	ORPHA:2059
Galactosialidosis	Conjunctival telangiectasia, Seizure, Opacification of the corneal stroma	OMIM:256540
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Mucopolysaccharidosis, Type Vii	Recurrent otitis media, Corneal opacity	OMIM:253220
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Familial Multiple Lipomatosis	Chorioretinitis, Hyperlipidemia, Bowing of the long bones	ORPHA:199276
Primary Intestinal Lymphangiectasia	Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia...	ORPHA:90362
Argininemia	Hyperactivity, Anorexia, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Spastic gait	OMIM:207800
Moebius Syndrome	Corneal opacity, Blepharitis	ORPHA:570
Premature Aging Syndrome, Penttinen Type	Retrocerebellar cyst, Corneal stromal edema, Corneal opacity	OMIM:601812
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Cataract, Hearing impairment, Hyperlipidemia, Osteolytic def...	ORPHA:90153
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc...	OMIM:615688
Wolf-Hirschhorn Syndrome	Ataxia, Sclerocornea, Chronic otitis media, Seizure, Aplasia/Hypoplasia of the cerebellum, Megalo...	ORPHA:280
Pelvis-Shoulder Dysplasia	Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Seizure, Cataract, Opacification of the corneal stroma	OMIM:214110
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Clonus, Chorioretinal dysplasia, Abnormal pupil morphology, Cheilitis,...	ORPHA:534
Nocardiosis	Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc...	ORPHA:31204
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Hyperlipidem...	ORPHA:324
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga...	ORPHA:39812
Kindler Epidermolysis Bullosa	Corneal opacity, Recurrent skin infections, Cheilitis, Inflammation of the large intestine, Colit...	ORPHA:2908
Mucopolysaccharidosis, Type Iva	Waddling gait, Recurrent pneumonia, Opacification of the corneal stroma	OMIM:253000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia, Anemia	OMIM:174000
Neutral Lipid Storage Myopathy	Sensorineural hearing impairment, Hypertriglyceridemia, Difficulty walking, Abnormal circulating ...	ORPHA:98908
Mosaic Variegated Aneuploidy Syndrome	Cataract, Corneal opacity, Seizure, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation	ORPHA:1052
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Multiple joint contractures, Camptodactyly of finger, Ankle flexion contractu...	ORPHA:468631
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Epileptic spasm, Exaggerated startle response, Broad-based gait, Involuntary movements, Inability...	ORPHA:438213
Legius Syndrome	Hyperactivity, Cataract, Acute monocytic leukemia, Diaphyseal dysplasia, Xanthelasma, Vestibular ...	ORPHA:137605
Choreoacanthocytosis	Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta...	ORPHA:2388
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Mucopolysaccharidosis Type 6	Chronic otitis media, Sinusitis, Opacification of the corneal stroma	ORPHA:583
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Sialuria	Seizure, Hyperkinetic movements	ORPHA:3166
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype...	ORPHA:340
Meningioma	Hemifacial spasm, Abnormal central motor function, Ataxia, Focal-onset seizure, Abnormal cerebell...	ORPHA:2495
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Opacification of the corneal stroma	OMIM:313400
Glycogen Storage Disease Ib	Splenomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Neutropenia, Lipemia retinalis	OMIM:232220
Microphthalmia, Syndromic 3	Cataract, Sclerocornea, Patent ductus arteriosus, Spastic tetraplegia, Spastic diplegia	OMIM:206900
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Oculoectodermal Syndrome	Patent ductus arteriosus, Chorioretinal atrophy, Microcornea, Seizure, Astigmatism, Opacification...	OMIM:600268
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Hyp...	ORPHA:90154
Cholestasis-Lymphedema Syndrome	Splenomegaly, Hyperlipidemia	ORPHA:1414
Doors Syndrome	Small cerebellar cortex, Cataract, Bilateral tonic-clonic seizure, EEG abnormality, Focal impaire...	ORPHA:79500
Williams Syndrome	Flat cornea, Cataract, Corneal opacity, Involuntary movements, Ataxia, Tremor, Patent ductus arte...	ORPHA:904
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Seizure, Myoclonus, Tetraplegia, Hepatocellular necrosis	OMIM:618278
Mucopolysaccharidosis, Type Vi	Seizure, Corneal opacity, Pneumonia	OMIM:253200
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia	ORPHA:29073
Osteogenesis Imperfecta	Somatic sensory dysfunction, Corneal opacity, Ataxia, Osteoarthritis, Gait disturbance, Tetrapare...	ORPHA:666
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals	OMIM:210370
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of...	OMIM:218330
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Long ear, Aplasia/Hypop...	OMIM:276820
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Corneal opacity	ORPHA:79396
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Glycerol Kinase Deficiency	Low-set ears, Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma	ORPHA:536471
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Long fibula, Abnormal metaphysis morphology, Lymphopenia, Anemia	ORPHA:935
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Elevated circulating creatinine concentration, Low-set ears	OMIM:617478
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Keratoconjunctivitis, Scleritis, Seborrhoeic blepharitis, Pa...	ORPHA:95159
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Short clavi...	OMIM:608612
Congenital Analbuminemia	Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hyp...	ORPHA:86816
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Down-sloping shoulders, Micrognathia, Coxa valga, Hyperlipidemia, Short clavicles, Os...	OMIM:248370
Carpenter Syndrome 1	Microcornea, Patent ductus arteriosus, Opacification of the corneal stroma	OMIM:201000
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc...	OMIM:304120
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Seizure, Peters anomaly, Iris coloboma	OMIM:309801
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Unsteady gait, Slurred speech, Enterocol...	ORPHA:707
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Linear Skin Defects With Multiple Congenital Anomalies 3	Seizure, Sclerocornea	OMIM:300952
Microphthalmia With Linear Skin Defects Syndrome	Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Seizure, Status epilepticus, Posterior em...	ORPHA:2556
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity	ORPHA:364577
Isotretinoin-Like Syndrome	Micrognathia, Aplasia/Hypoplasia of the inner ear, Microtia, Anotia, Hypocalcemia, Bilateral sens...	ORPHA:2306
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea	OMIM:614230
Smith-Lemli-Opitz Syndrome	Cataract, Sclerocornea, Patent ductus arteriosus, Seizure, Hypertonia, Aplasia/Hypoplasia of the ...	ORPHA:818
Proboscis Lateralis	Cataract, Corneal opacity, Patent ductus arteriosus, Microcornea, Chorioretinal coloboma, Iris co...	ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Agenesis of cerebellar vermis, Seizure, Cerebellar hemisphere hypoplasia, Cerebellar hypoplasia, ...	OMIM:615287
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cataract, Sclerocornea, Patent ductus art...	OMIM:619869
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Mucopolysaccharidosis Type 2, Severe Form	Seizure, Abnormal uvea morphology, Corneal opacity, Arthritis	ORPHA:217085
Orofaciodigital Syndrome Type 4	Finger syndactyly, Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Mic...	ORPHA:2753
Mucopolysaccharidosis Type 2, Attenuated Form	Seizure, Abnormal uvea morphology, Corneal opacity, Arthritis	ORPHA:217093
Primary Triglyceride Deposit Cardiomyovasculopathy	Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, Vacuolated lymp...	ORPHA:565612
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Pauci-Immune Glomerulonephritis	Granulomatosis, Elevated circulating creatinine concentration	ORPHA:93126
Chime Syndrome	Seizure, Corneal opacity	ORPHA:3474
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hyperuricemia, Lipemia retinalis	OMIM:232200
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Opacification of the corneal stroma	ORPHA:1692
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Meckel Syndrome	Cataract, Abnormal chorioretinal morphology, Sclerocornea, Microcornea, Aplasia/Hypoplasia of the...	ORPHA:564
Hypohidrotic Ectodermal Dysplasia	Keratoconjunctivitis sicca, Sinusitis, Inflammatory abnormality of the eye, Eczema	ORPHA:238468
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Posteriorly rotated ears, Facial palsy, Arachnodactyly, Micrognathia,...	OMIM:300373
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Mucolipidosis Ii Alpha/Beta	Recurrent pneumonia, Tip-toe gait, Opacification of the corneal stroma, Recurrent otitis media, M...	OMIM:252500
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Chronic Granulomatous Disease	Sinusitis, Inflammatory abnormality of the eye, Eczema, Otitis media	ORPHA:379
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil...	OMIM:600802
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Pes planus, Cataract, Ataxia, Hypertriglyceridemia, R...	ORPHA:64
Nodular Non-Suppurative Panniculitis	Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Autosomal Dominant Cutis Laxa	Pyelonephritis, Corneal opacity, Bronchiectasis, Developmental cataract	ORPHA:90348
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Keratoconjunctivitis, Scleritis, Seborrhoeic blepharitis, Pa...	ORPHA:79277
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Larsen Syndrome	Corneal opacity	OMIM:150250
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity	ORPHA:920
Peters Plus Syndrome	Cataract, Corneal opacity, Patent ductus arteriosus, Microcornea, Peters anomaly, Iris coloboma, ...	ORPHA:709
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Pancreatitis, Prostatitis, S...	ORPHA:900
Digeorge Syndrome	Acne, Sclerocornea, Seborrheic dermatitis, Patent ductus arteriosus, Recurrent pneumonia, Hemipar...	OMIM:188400
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Hereditary Acrokeratotic Poikiloderma	Pustule, Eczema, Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Corneal ulceration, Corneal opacity, Shuffling gait	ORPHA:740
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Aggressive behavior, Hyperlipidemia, Sensorineural hearing impairment, Hyperkalemia...	ORPHA:293987
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Postaxial polydactyly, Conjugated hyperbilirubinemia, Increased circulating ferritin ...	OMIM:619534
Lathosterolosis	Seizure, Chiari malformation, Opacification of the corneal stroma, Cataract	OMIM:607330
Gaucher Disease, Type Iiic	Seizure, Opacification of the corneal stroma	OMIM:231005
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Igg4-Related Kidney Disease	Eosinophilia, Elevated circulating C-reactive protein concentration, Elevated circulating creatin...	ORPHA:449395
Eec Syndrome	Keratitis, Corneal erosion, Blepharitis, Inflammatory abnormality of the eye	ORPHA:1896
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent skin infections, Eczema, Keratitis, Erythroderma, Seizure, Chiari malformation, Opacifi...	OMIM:308205
Glycogen Storage Disease Ic	Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Cataract, Brachydactyly, Micrognathi...	ORPHA:444077
Fraser Syndrome 1	Seizure, Corneal opacity	OMIM:219000
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity	OMIM:608670
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc...	ORPHA:567983
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary...	OMIM:263650
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Cerebellar dysplasia	OMIM:601374
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia, Pedal edema	ORPHA:567546
Aromatase Deficiency	Hyperlipidemia, Delayed epiphyseal ossification, Genu valgum	ORPHA:91
Woodhouse-Sakati Syndrome	Hyperlipidemia, Sensorineural hearing impairment, Protruding ear, Choreoathetosis, Hearing impair...	OMIM:241080
Yunis-Varon Syndrome	Cataract, Cerebellar hypoplasia, Sclerocornea	ORPHA:3472
Fryns Syndrome	Opacification of the corneal stroma, Seizure, Dandy-Walker malformation	OMIM:229850
Roberts-Sc Phocomelia Syndrome	Patent ductus arteriosus, Cataract, Corneal opacity, Opacification of the corneal stroma	OMIM:268300
Microphthalmia, Syndromic 6	Microcornea, Inferior cerebellar vermis hypoplasia, Cerebellar hypoplasia, Sclerocornea	OMIM:607932
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Woodhouse-Sakati Syndrome	Choreoathetosis, Hyperlipidemia, Bilateral sensorineural hearing impairment, Protruding ear	ORPHA:3464
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Cataract, Sclerocornea, Cerebellar hypoplasia, Aspiration pneumonia	OMIM:216340
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy	ORPHA:391665
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia		ORPHA:248

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 Cstb

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 Cstb.

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

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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
Cstb^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Cstb^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cstb^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cstb MGI:109514

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Cstb mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data