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Gene: Atxn7 MGI:2179277

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Gene Summary

Name:
ataxin 7
Synonyms:
Sca7,  ataxin-7,  A430107N12Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral content Atxn7em1(IMPC)Bay HOM Early adult 3.44×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Atxn7 mutations

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

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

The table below shows human diseases associated to Atxn7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Spinocerebellar Ataxia Type 7
Cerebral atrophy, Babinski sign, Abnormal fundus morphology, Macular degeneration, Dysdiadochokin... ORPHA:94147

The table below shows human diseases predicted to be associated to Atxn7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia, Scoliosis OMIM:176250
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Scoliosis, Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Ataxia-Oculomotor Apraxia Type 1
Medial flaring of the eyebrow, Ataxia, Gait disturbance ORPHA:1168
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar... OMIM:615268
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech ORPHA:98766
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax... ORPHA:95434
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Upper limb postural tr... ORPHA:98769
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,... OMIM:617018
Autosomal Spastic Paraplegia Type 30
Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax... ORPHA:101010
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre... OMIM:616053
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Impaired vibratory sensation ORPHA:217012
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Seizure, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Gi... OMIM:618876
Spinocerebellar Ataxia 37
Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Myasthenic Syndrome, Congenital, 18
Ptosis, Difficulty walking, Ataxia OMIM:616330
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Ataxia-Tapetoretinal Degeneration Syndrome
Gait disturbance, Ataxia, Rod-cone dystrophy, Aplasia/Hypoplasia of the cerebellum, Pigmentary re... ORPHA:1178
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia... ORPHA:94122
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Cerebellar atrophy, Inability to walk OMIM:619333
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cerebellar vermis atrophy, Gait dis... ORPHA:363710
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Seizure, Cerebellar atrophy, Limb tremor, Ataxia, Loss of ambulation, Myoclon... OMIM:256731
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Abnormal c... OMIM:162350
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Difficulty walking, Impaired proprioception, Limb ataxia... ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:117210
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Gait imbalance, Seizure, Cerebellar atrophy, Frequent falls, Bilat... OMIM:301020
Spastic Paraplegia 62, Autosomal Recessive
Spastic gait, Babinski sign, Tip-toe gait, Difficulty walking, Hoffmann sign, Lower limb spastici... OMIM:615681
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Cerebellar atrophy, Loss of ambulation, Ataxia, Myoclonus OMIM:600143
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Spastici... OMIM:619742
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Action myoclonus, Bilat... OMIM:616230
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Babinski sign, Optic atrophy, Lower limb spasticity, Cerebellar vermis atrophy, Spas... OMIM:614322
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Seizure, Freq... OMIM:607317
Spastic Paraplegia 18B, Autosomal Recessive
Babinski sign, Inability to walk, Lower limb spasticity, Scoliosis, Gait disturbance, Kyphosis, S... OMIM:611225
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Cerebellar atrophy, Ataxia, Retinal dystrophy OMIM:614706
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Seizure, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Ataxia, Abnormal pyram... ORPHA:79262
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell... OMIM:613908
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Difficulty walking, Myoclonic status epilepticus... ORPHA:2590
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve... ORPHA:284332
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Gait disturbance, Hemiplegia/hemiparesis, Ataxia, Spastic ataxia, Aplasia/Hypoplas... ORPHA:2572
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Ataxia, Unsteady gai... OMIM:616948
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Seizure, Tremor... OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Truncal ataxia, Ataxia, Cerebellar hypoplasia, Dysmetria OMIM:617584
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Spasticity, Cerebellar atrophy, Cogwheel rigidity, Gait disturban... OMIM:616981
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait... OMIM:615768
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Focal myoclonic seizure, Progressive cerebellar ataxia, Photosensitive myoclonic s... ORPHA:263516
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Abnormal nerve conduction velocity, Torticollis, Cerebellar atrophy, G... OMIM:619862
Oculomotor-Levator Synkinesis
Ptosis, Abnormal eyelid morphology, Eyelid retraction OMIM:151610
Spinocerebellar Ataxia 50
Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ptosi... OMIM:620158
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Gait ataxia, Head tremor, Ptosis, Rigidity... ORPHA:101109
Huntington Disease-Like 2
Chorea, Gait disturbance, Involuntary movements, Dystonia, Parkinsonism, Weight loss ORPHA:98934
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Uns... ORPHA:423275
Spastic Ataxia 1, Autosomal Dominant
Gait disturbance, Spastic paraplegia, Ptosis, Dystonia, Spastic ataxia OMIM:108600
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb... ORPHA:276193
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Abnormality of extrapyramidal motor function, Macular degeneration, Seizure, Bilat... OMIM:204200
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Aplasia of the inferior half of the cerebellar vermis, Atrophy of the dentate nucleus, Broad-base... OMIM:610185
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Scoliosis, Frequent falls, Action myoclonus, Gait ataxia, Bilatera... OMIM:616540
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Retinal degeneration, Ataxia, Myoclonus OMIM:204500
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Cerebellar atrophy, G... OMIM:604432
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo... ORPHA:314978
Myasthenic Syndrome, Congenital, 15
Ptosis, Difficulty walking, Frequent falls OMIM:616227
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Myoclonus, Cerebellar hypoplasia OMIM:619303
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Bilateral ptosis, Generalized myoclonic seizure, Difficulty walking, Focal-onset s... ORPHA:330050
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, Scolio... OMIM:614018
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic... OMIM:128230
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten... ORPHA:101110
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebellar atrophy, Gait d... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Limb ataxia, Abnormality of extrapyramidal motor function, Spasticity, Scoliosis, ... OMIM:610743
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid... ORPHA:98763
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Retinal dysplasia OMIM:615041
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia ORPHA:101075
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Cachexia, Tremor, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Parki... OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ... OMIM:614831
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Generalized myoclonic seizure, Ataxia, Myoclonus OMIM:208700
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Chorea, Cerebellar vermis atrophy,... ORPHA:248111
Progressive Myoclonic Epilepsy With Dystonia
Optic atrophy, Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Hemip... ORPHA:352596
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Lower limb spasticity, Cerebellar vermis atrophy, Cerebellar atrophy, Corpus c... OMIM:619389
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ... OMIM:616127
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Lower limb spasticity, Broad-based gait, Retinopathy, Ataxia, Parkinsonism, Myoclon... ORPHA:306511
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Tremor, Cerebellar atrophy, Ptosis, Ataxia, Myoclonus, Abn... OMIM:612016
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Gait ataxia, Abnormal cerebellum morphology, Hemiparesis, Myocl... OMIM:123400
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Camos Syndrome
Optic atrophy, Brain atrophy, Spasticity, Progressive extrapyramidal movement disorder, Ataxia, A... ORPHA:83472
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Inability to walk, Seizure, Athetosis, Cerebellar atrophy, Scoliosis, Gait disturb... OMIM:618241
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Cerebellar hypoplasia, Abnormality of retinal pigmentation, Ataxia ORPHA:2246
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria OMIM:607458
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Retinopathy, Ataxia, Neurodegeneration, Pigm... OMIM:610951
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... OMIM:616291
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia ORPHA:101078
Autosomal Recessive Spastic Paraplegia Type 53
Impaired proprioception, Limb dystonia, Clonus, Kyphosis, Failure to thrive, Impaired vibratory s... ORPHA:319199
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dysmetria, Impaired ... OMIM:614409
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:612437
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertoni... ORPHA:254343
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Migraine, Familial Hemiplegic, 1
Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atr... OMIM:614487
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo... OMIM:604326
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Cogwheel rigidity... OMIM:607346
Glut1 Deficiency Syndrome 1
Babinski sign, Spasticity, Seizure, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis, L... OMIM:606777
Spinocerebellar Ataxia 13
Optic atrophy, Limb ataxia, Progressive cerebellar ataxia, Limb dysmetria, Spasticity, Impaired d... OMIM:605259
Dystonia 23
Torticollis, Cerebellar atrophy, Gait disturbance, Head tremor, Myoclonus OMIM:614860
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Erratic myoclonus, Seizure, Cerebellar atrophy, Ataxia, Myoclonus, Spastic tetra... OMIM:619971
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Inte... OMIM:613728
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Cerebellar ... OMIM:619028
Yoon-Bellen Neurodevelopmental Syndrome
Optic atrophy, Bilateral ptosis, Inability to walk, Spasticity, Infantile spasms, Scoliosis, Bila... OMIM:619701
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:615705
Dystonia 3, Torsion, X-Linked
Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Chorea, Positive Romberg sign, Seizure, Cer... OMIM:607136
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia, Epicanthus, Short neck OMIM:618951
Spinocerebellar Ataxia 28
Limb ataxia, Babinski sign, Spasticity, Cerebellar atrophy, Gait ataxia, Ptosis, Lower limb hyper... OMIM:610246
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:611302
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic sei... OMIM:618587
Spinocerebellar Ataxia 2
Oculomotor apraxia, Fasciculations, Cerebellar atrophy, Action tremor, Rigidity, Ataxia, Myoclonu... OMIM:183090
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria OMIM:608029
Marcus Gunn Phenomenon
Congenital ptosis, Unilateral ptosis OMIM:154600
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Vocal Cord Paralysis And Ptosis
Bilateral ptosis, Vocal cord paralysis OMIM:193240
Cerebellar Ataxia, Cayman Type
Bradykinesia, Broad-based gait, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Intention tremor... OMIM:601238
X-Linked Progressive Cerebellar Ataxia
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Cerebellar vermis ... ORPHA:1175
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Spastic dysarthria, Oculomotor apraxia, Spasticity, Dysdiadochokin... ORPHA:313772
Developmental And Epileptic Encephalopathy 92
Difficulty walking, Inability to walk, Spasticity, Seizure, Ataxia, Myoclonus, Lethargy OMIM:617829
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Focal-onset seizure, Enhancement of the C-reflex, Tremor, Bilateral tonic-clo... OMIM:613608
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Scoliosis, Tremor, Myoclonic seizure, ... OMIM:616421
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Macular degeneration, Truncal ataxia,... ORPHA:284289
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Upper limb ... ORPHA:464440
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Combined Saposin Deficiency
Optic atrophy, Babinski sign, Generalized clonic seizure, Hyperkinetic movements, Fasciculations,... OMIM:611721
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Oculomotor apraxia, Cerebellar vermis atrophy, Incoordination, Truncal ataxia, Cer... OMIM:616204
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Cerebellar atrophy, Intention tremor, Action tremor... OMIM:302500
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Seizure, Ptosis, Hypoplasia of the fovea, Epicanthus, Upslanted palpebral fissure OMIM:620086
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Cerebellar... ORPHA:521406
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Bilateral tonic-clonic seizure... OMIM:204300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Roussy-Lévy Syndrome
Somatic sensory dysfunction, Babinski sign, Limb ataxia, Difficulty walking, Kyphoscoliosis, Impa... ORPHA:3115
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Tremor, Ataxia OMIM:619099
Myasthenic Syndrome, Congenital, 17
Ptosis, Difficulty walking OMIM:616304
Myoclonus, Intractable, Neonatal
Chorea, Dandy-Walker malformation, Athetosis, Ptosis, Myoclonus, Clonic seizure, Optic disc pallor OMIM:617235
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Babinski sign, Oculomotor apraxia, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, ... ORPHA:453521
Dystonia 27
Oromandibular dystonia, Writer's cramp, Torticollis, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Myasthenic Syndrome, Congenital, 13
Ptosis, Scoliosis OMIM:614750
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Hyperkinetic movements, Focal-onset sei... OMIM:619317
Ataxia-Telangiectasia-Like Disorder
Oculomotor apraxia, Cerebellar vermis hypoplasia, Chorea, Dysdiadochokinesis, Cerebellar atrophy,... ORPHA:251347
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Spasticity, Seizure, Ataxia, Myoclonus, Retinal degeneration OMIM:256730
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia, Unsteady gait ORPHA:284271
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Developmental And Epileptic Encephalopathy 23
Telecanthus, Infantile spasms, Bilateral tonic-clonic seizure, Synophrys, Long eyelashes, Hypopla... OMIM:615859
Spastic Paraplegia 30, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Cerebellar atrophy, Spastic paraplegia, Ataxi... OMIM:610357
Peho-Like Syndrome
Optic atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure, Epicanthus, Myoclonus, Status ... OMIM:617507
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Cerebellar vermis atrophy, Gait ataxia, Dilated ... OMIM:213200
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Hyperkinetic movements, Inability to walk, Chorea, Spasticity, Seizure, Cerebell... OMIM:614254
Ataxia, Sensory, 1, Autosomal Dominant
Babinski sign, Gait instability, worse in the dark, Impaired distal proprioception, Positive Romb... OMIM:608984
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Bilateral ... ORPHA:254881
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Spastic dysarthria, Oculomotor ... ORPHA:363429
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Seizure, Hemiparesis, Ataxia, Extrapyramidal dyskinesia,... ORPHA:71277
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Lower limb spasticity, Broad-based gait, Scoliosis, Waddling gait, Kyphosis, O... OMIM:616756
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, Seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Gait ataxia, Unsteady gait,... OMIM:615386
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysdiadochokinesis, Gait ataxia, Ptosis, Limb dysmetria, Dysmetria ORPHA:324262
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Scoliosis, Tr... OMIM:616505
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Truncal ataxia, Episodic ataxia... OMIM:607682
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Generalized myoclonic seizure, Seizure, Spasticity, Ataxia, Myoclonus OMIM:545000
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Cerebellar atrophy, Seizure, Myoclonic ... ORPHA:79263
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Atonic seizure, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Difficulty walking, Tongue fasciculations, Scoliosis, Tremor, Faci... OMIM:159950
Spastic Paraplegia 53, Autosomal Recessive
Gait disturbance, Clonus, Spastic paraplegia, Lower limb hypertonia, Kyphosis, Dystonia, Impaired... OMIM:614898
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:619191
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Difficulty walking, Chorea, Incoordination, Poor motor coordination, Frequent fall... OMIM:500003
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Seizure, Scoliosis, Shuffling gait, Ga... ORPHA:391411
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus, Choreoathetosis OMIM:609056
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormality of macular pigmentation, Seizure, Tremor, Facial p... ORPHA:97229
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Babinski sign, Hypertonia, Spasticity, Spastic tetraparesis, Frequent falls, Gait ... ORPHA:225154
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic gait, Babinski sign, Paroxysmal dyskinesia, Seizure, Scoliosis, Cerebellar atrophy, Optic... OMIM:620538
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance... OMIM:617145
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Ataxia, Myoclonus OMIM:616494
Developmental And Epileptic Encephalopathy 16
Optic atrophy, Abnormality of extrapyramidal motor function, Hemiparesis, Myoclonus, Status epile... OMIM:615338
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Seizure, Scoliosis, Kyphosis, Ataxia, Cherry red spot of th... OMIM:230650
Foxg1 Syndrome
Kyphoscoliosis, Hyperkinetic movements, Difficulty walking, Optic disc hypoplasia, Inability to w... ORPHA:561854
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu... ORPHA:98807
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Scoliosis, Tremor, Gait disturbance, Paraparesis, Kyphosis, Ataxia ORPHA:99014
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Difficulty walking, Limb hypertonia, Spasticity, Tremor, Seizure, Involuntary move... ORPHA:442835
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Hsd10 Disease
Optic atrophy, Seizure, Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesi... ORPHA:391417
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Limb dystonia, Obesity, Ataxia, Cerebellar hypoplasia OMIM:620270
Episodic Ataxia, Type 5
Typical absence seizure, Truncal ataxia, Episodic ataxia, Bilateral tonic-clonic seizure, Atypica... OMIM:613855
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Focal-onset seizure, Impaired tactile sensation, Bilateral tonic-clonic seizure with ... OMIM:619092
Alexander Disease Type I
Cachexia, Spasticity, Scoliosis, Cerebellar atrophy, Failure to thrive, Ataxia, Abnormal pyramida... ORPHA:363717
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Seizure, Tremor, Cerebellar atrophy, Myoclonus, Abnormal pyramidal... ORPHA:139485
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Congenital bilateral ptosis, Congenital fibrosis of extraocular muscles, K... OMIM:609384
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Spastic dysarthria, Lower ... ORPHA:352641
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked potentials, M... OMIM:608105
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Seizure, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Cerebellar dentate... OMIM:213600
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Spinocerebellar Ataxia 49
Babinski sign, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Cerebellar atrop... OMIM:619806
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia, Weight loss OMIM:606438
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Distal sensory impairment, Scoliosis, Kyphosis, Optic disc pallor OMIM:617087
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormal vertebral morphology, Abnormality of the vertebral column, Truncal ataxia, Seizure, Head... OMIM:250620
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Babinski sign, Truncal ataxia, Spasticity, Seizure, Ptosis, Ataxia, Myoclonus, Pig... OMIM:252011
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Spinocerebellar Ataxia Type 13
Optic atrophy, Bradykinesia, Limb ataxia, Difficulty walking, Torticollis, Seizure, Impaired dist... ORPHA:98768
Null Syndrome
Optic atrophy, Difficulty walking, Decreased nerve conduction velocity, Inability to walk, Abnorm... ORPHA:280234
Spinocerebellar Ataxia Type 26
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Pr... ORPHA:101112
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon... ORPHA:86909
Developmental And Epileptic Encephalopathy 40
Seizure, Spasticity, Spastic tetraparesis, Myoclonus, Choreoathetosis, Lethargy OMIM:617065
Isaacs Syndrome
Fasciculations, Distal sensory impairment, Weight loss ORPHA:84142
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Chorea, Seizure, Spasticity, Infantile spasms, Bilateral tonic-clonic seizure, M... OMIM:616139
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis, Hemiplegia ORPHA:2997
Narp Syndrome
Babinski sign, Seizure, Myoclonic spasms, Retinal pigment epithelial mottling, Ataxia, Progressiv... ORPHA:644
Myoclonus-Dystonia Syndrome
Limb myoclonus, Spinal myoclonus, Torticollis, Myoclonus ORPHA:36899
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia,... ORPHA:101
Congenital Disorder Of Glycosylation, Type In
Seizure, Spasticity, Ataxia, Myoclonus, Short neck OMIM:612015
Spinocerebellar Ataxia 46
Limb ataxia, Positive Romberg sign, Cerebellar atrophy, Gait ataxia, Dysmetria OMIM:617770
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Failure to thrive, Ataxia, Kyphosis OMIM:620007
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Babinski sign, Hypertonia, Spastic dysarthria, Loss of ability to walk in early ch... ORPHA:401866
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Ptosis, Dystonia, ... OMIM:618049
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Clumsiness, Optic atrophy, Babinski sign, Hypertonia, Difficulty walking, Imp... ORPHA:137898
Alexander Disease
Babinski sign, Abnormal dentate nucleus morphology, Spasticity, Seizure, Ataxia, Dysmetria, Palat... OMIM:203450
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Gait disturbance, Ga... OMIM:618090
Leukodystrophy, Hypomyelinating, 20
Babinski sign, Hypertonia, Torticollis, Scoliosis, Cerebellar atrophy, Ptosis, Dystonia, Spastic ... OMIM:619071
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atroph... OMIM:620453
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Steppage gait, Distal sensory impairment, Impair... OMIM:607684
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Difficulty walking, Cerebellar atrophy, Cerebral cortical atrophy, Ataxia OMIM:619425
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Cerebellar atrophy, Kyphosis, Synophrys, Unsteady gait, Ataxia OMIM:300861
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Frequent falls, Gait ataxia, Ataxia, Dysmetria OMIM:617691
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Gait ataxia, Ptosis, R... ORPHA:101150
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:607565
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ... OMIM:612736
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc... OMIM:617633
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Scoliosis, Cerebella... ORPHA:93952
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Distal sensory impairment, Scoliosis, Ptosis, Paralysis OMIM:605285
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia OMIM:614229
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Spasticity, Seizure, Hypoplasia of the pons, Myoclonus, Cerebellar hypoplasia, Loss o... OMIM:225753
Atypical Rett Syndrome
Pill-rolling tremor, Generalized myoclonic seizure, Neonatal seizure, Inability to walk, Apraxia,... ORPHA:3095
Myasthenic Syndrome, Congenital, 16
Bilateral ptosis, Hyperlordosis, Gait disturbance, Ptosis, Periodic paralysis OMIM:614198
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visual features, Fo... OMIM:615400
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebral atrophy, Babinski sign, Positive Romberg sign, Spasticity, Cerebellar atrophy, Corpus ca... OMIM:618088
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Abnormal cerebellar peduncle mo... ORPHA:98
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Dravet Syndrome
Epilepsia partialis continua, Focal-onset seizure, Incoordination, Action tremor, Atypical absenc... ORPHA:33069
Caribbean Parkinsonism
Bradykinesia, Orthostatic hypotension, Apraxia, Abnormal autonomic nervous system physiology, Act... ORPHA:97355
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Cerebellar atrophy, Kyphosis, Gait disturbance, Synophrys, Ataxia ORPHA:85317
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ptosis, Tremor, Ataxia OMIM:618637
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Hypertonia, Focal-onset seiz... ORPHA:306
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure... OMIM:616366
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Inability to walk, Writer's cramp... OMIM:128100
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Inability to walk, Myoclonus, Spastic tetraplegia, Status epilepticus OMIM:618285
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Spasticity, Bilateral tonic-clonic seizure, Gait ataxia, Tonic seizure, ... OMIM:620145
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Babinski sign, Paroxysmal dyskinesia, Chorea, Spasticity, Athetosis, Blepharospasm... OMIM:617282
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Spinocerebellar Ataxia 4
Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar atrophy, Limb... OMIM:600223
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Hyperkinetic movements, Inability to walk, Seizure, Bilateral tonic-clonic seizu... OMIM:618497
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Pontocerebellar atrophy, Inability to walk, Lower limb spasticity, Broad-based gait... OMIM:617854
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Cerebellar atrophy, ... OMIM:616795
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Falls, Abnormality of extrapyramidal motor func... ORPHA:13
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Cerebellar atrophy, Involuntary movements, Myoclonus, Abnormal pyramidal si... OMIM:619780
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Scol... OMIM:617435
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Early Myoclonic Encephalopathy
Generalized myoclonic seizure, Focal seizure with eyelid myoclonia, Focal motor seizure, Infantil... ORPHA:1935
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Retinal dystrophy, Abnormal upper motor neuron morphology, Spasticity, C... OMIM:215470
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spasticity, Scoliosis, Ptosis, Failure to thrive, Dystonia, Spastic tetraplegia, Choreoathetosis OMIM:618238
Autosomal Recessive Ataxia, Beauce Type
Babinski sign, Lower limb spasticity, Fasciculations, Clumsiness, Spasticity, Scoliosis, Upper mo... ORPHA:88644
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ... OMIM:137440
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Cerebellar vermis atrophy, Spast... OMIM:616719
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Rigidity, Ataxia, Tip-toe gait, Babinsk... OMIM:614877
Spinocerebellar Ataxia 26
Limb ataxia, Truncal ataxia, Incoordination, Cerebellar atrophy, Gait ataxia OMIM:609306
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of ambulation, Dysmetria OMIM:617916
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare... ORPHA:726
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Bradykinesia, Distal sensory impairment, Optic neuritis, Parkinsonism with favorab... ORPHA:254886
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Cerebellar atrophy, Limb dyston... ORPHA:71517
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Difficulty walking, Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Ce... ORPHA:512260
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Hypertonia, Decreased nerve conduction velocity, Dysdiadochokinesis, Seizure, Cere... OMIM:618356
Gerstmann-Straussler-Scheinker Syndrome
Abnormality of extrapyramidal motor function, Dysesthesia, Limb myoclonus, Gait ataxia, Abnormal ... ORPHA:356
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Behr Syndrome
Optic atrophy, Babinski sign, Truncal ataxia, Cerebellar vermis atrophy, Tremor, Cerebellar atrop... OMIM:210000
Proximal Myopathy With Extrapyramidal Signs
Difficulty walking, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor, Involun... ORPHA:401768
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia, Small for gestational age OMIM:278780
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hemimegalencephaly
Optic atrophy, Epileptic spasm, Focal motor seizure, Seizure, Focal tonic seizure, Hemiparesis, A... ORPHA:99802
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Seizure, Ptosis, Myoclonic seizure, Ataxia, Myoclonus, Lethargy OMIM:618225
Oculopharyngeal Muscular Dystrophy 1
Ptosis, Gait disturbance, Progressive ptosis OMIM:164300
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Cerebellar atrophy, Gait distu... ORPHA:98764
Primary Dystonia, Dyt4 Type
Kyphoscoliosis, Torticollis, Dysdiadochokinesis, Blepharospasm, Gait disturbance, Involuntary mov... ORPHA:98805
Spinocerebellar Ataxia 36
Limb ataxia, Babinski sign, Hypertonia, Fasciculations, Tongue fasciculations, Incoordination, Tr... OMIM:614153
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Olivopontocerebellar hypoplasia, Myoclonus ORPHA:166063
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Frequent fall... ORPHA:216873
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Hand tremor, Focal-onset seizure, Myoclonus ORPHA:86814
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Inability to walk, Telecanthus, Infantile spasms, Synoph... ORPHA:411986
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Bilateral ptosis, Babinski sign, Difficulty walking, Broad-based gait, Positive Romberg sign, Cer... OMIM:616479
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Spastic diplegia OMIM:619065
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Lower limb spasticity, Ch... ORPHA:485350
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Seizure, Tremor, Myoclonus, Choreoathetosis OMIM:261630
Sandhoff Disease
Failure to thrive, Ataxia, Kyphosis ORPHA:796
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Falls, Bilateral tonic-clonic seizure, Atypic... ORPHA:2382
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni... ORPHA:352582
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Cerebellar atrophy, Gait disturbance, Ac... OMIM:300423
Alexander Disease Type Ii
Babinski sign, Spasticity, Scoliosis, Abnormal autonomic nervous system physiology, Abnormal medu... ORPHA:363722
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Seizure, Tremor, Retinopathy, Ptosis, Ataxia, Lumbar kyphoscoliosis, Cerebellar hy... OMIM:619422
Spastic Paraplegia 39, Autosomal Recessive
Babinski sign, Atrophy of the spinal cord, Cerebellar atrophy, Gait disturbance, Ataxia, Progress... OMIM:612020
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Camptocorm... OMIM:606703
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Spinocerebellar Ataxia 5
Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Cerebellar atrophy, Upper moto... OMIM:600224
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Torticollis, Myoclonus OMIM:159900
Spinocerebellar Ataxia Type 17
Cerebellar Purkinje layer atrophy, Torticollis, Chorea, Spasticity, Neuronal loss in central nerv... ORPHA:98759
Spinocerebellar Ataxia Type 29
Oculomotor apraxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi... ORPHA:208513
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Epicanthus ORPHA:85288
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Pontocerebellar Hypoplasia, Type 2E
Optic atrophy, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Spasticity, Inf... OMIM:615851
Huntington Disease-Like 1
Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Cerebellar atrophy, Frequent ... ORPHA:157941
Juvenile Amyotrophic Lateral Sclerosis
Chorea, Cachexia, Head titubation, Ataxia, Opisthotonus, Tip-toe gait, Hypertonia, Difficulty wal... ORPHA:300605
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Scoliosis, Kyphosis, Gait disturbance, Synophrys, Thick eyebrow, Truncal obesity ORPHA:2429
Spinocerebellar Ataxia Type 19/22
Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca... ORPHA:98772
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Tremor, Dystonia, Myoclonus OMIM:619651
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Impai... OMIM:208920
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Chiari type I malformation, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Wernicke-Korsakoff Syndrome
Ptosis, Ataxia OMIM:277730
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Scoliosis, Tremor, Gait disturbance, Spastic paraparesis, ... ORPHA:101077
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Distal sensory impairment, Impaired pain sensation, Scoliosis, Kyphosis, Obesity, Ataxia, Loss of... OMIM:618124
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Spina bifida occulta, Incoordinati... OMIM:618060
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Spasticity, Decreased body weight, Ptosis, Spastic tetraplegia OMIM:616681
Late Infantile Neuronal Ceroid Lipofuscinosis
Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Inability to walk, C... ORPHA:168491
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Abnormality of extrapyramidal motor function, Spasticity, Seizure, Hemiplegia/hemi... ORPHA:79279
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spinocerebellar Ataxia 27B, Late-Onset
Limb ataxia, Postural tremor, Cerebellar atrophy, Gait ataxia OMIM:620174
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Highly arched eyebrow, Dandy-Walker malformation, Seizure, Spastic tetraparesi... ORPHA:438178
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Spinal rigidity, Lower limb spasticity, Scoliosis, Hyperlordosis, Gait disturbance,... OMIM:617404
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia, Blepharophimosis, Horner syndrome OMIM:141300
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Dandy-Walker malformation, Spasticity, Cerebellar vermis atrophy, Spastic ... OMIM:616154
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Hypertonia, Seizure, Myoclonus OMIM:610992
Combined Oxidative Phosphorylation Deficiency 20
Hypertonia, Ptosis, Ataxia, Cerebellar hypoplasia, Small for gestational age OMIM:615917
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cerebellar hypop... OMIM:617810
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor... ORPHA:1170
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Bilateral ptosis, Babinski sign, Bradykinesia, Limb ataxia, Steppage gait, Impaire... OMIM:258450
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Intellectual Disability-Developmental Delay-Contractures Syndrome
Ptosis, Scoliosis, Kyphosis, Oculomotor apraxia ORPHA:3454
Cdkl5-Deficiency Disorder
Difficulty walking, Focal-onset seizure, Impaired pain sensation, Infantile spasms, Scoliosis, Ga... ORPHA:505652
Myoclonus, Familial, 2
Limb myoclonus, Seizure OMIM:618364
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy... ORPHA:352403
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Azoospermia, Cerebellar atrophy, Testicular atrophy ORPHA:276183
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Babinski sign, Hypertonia, Difficulty walking, Distal sensory impairment, Fasciculations, Incoord... OMIM:616688
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis, Distal sensory impairment, Gait ataxia, Action tremor, Upper limb postural tremor OMIM:180800
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Hypertonia, Unsteady gait, Myoclonus OMIM:610090
Intellectual Developmental Disorder, Autosomal Dominant 26
Short palpebral fissure, Hypertonia, Highly arched eyebrow, Scoliosis, Cerebral palsy, Kyphosis, ... OMIM:615834
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Babinski sign, Tongue fasciculations, Cerebellar vermis ... OMIM:618170
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Cerebellar atrophy, Gait atax... OMIM:609270
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Sialidosis Type 1
Decreased nerve conduction velocity, Abnormal form of the vertebral bodies, Seizure, Tremor, Scol... ORPHA:812
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Frequent falls, Short neck OMIM:300718
Microcephaly, Amish Type
Optic atrophy, Limb hypertonia, Cerebellar vermis hypoplasia, Hypoplasia of the fovea, Myoclonus,... OMIM:607196
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Myasthenic Syndrome, Congenital, 8
Ptosis OMIM:615120
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, O... ORPHA:370022
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Huntington Disease
Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Inability to walk, Chorea, Poor ... ORPHA:399
2p15-16.1 microdeletion syndrome
Ptosis, Downslanted palpebral fissures, Optic disc hypoplasia, Telecanthus DECIPHER:70
Myasthenic Syndrome, Congenital, 12
Fatigable weakness, Waddling gait, Facial palsy, Retinoschisis, Ptosis OMIM:610542
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Seizure, Cerebellar atrophy, Pigmentary retinopathy, Poor motor coo... ORPHA:79264
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Intention tremor, Bilateral tonic-clonic seizure with focal onset, Ptosis, Myoclonus, St... OMIM:610539
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Kyphoscoliosis, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramida... ORPHA:99750
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi... ORPHA:98810
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Head tremor, Ptosis, Dystonia, Myoclonus, Impaired tandem gait, Hand... OMIM:619724
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar... ORPHA:98773
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cerebellar atrophy, Action tremor, Dystonia, ... OMIM:619738
Spermatogenic Failure 17
Male infertility OMIM:617214
Baker-Gordon Syndrome
Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Scoliosis, Involuntary moveme... OMIM:618218
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Mepan Syndrome
Optic atrophy, Chorea, Spasticity, Cerebellar atrophy, Gait disturbance, Ataxia, Myoclonus ORPHA:508093
Spinocerebellar Ataxia 47
Chorea, Spasticity, Cerebellar vermis atrophy, Ptosis, Ataxia, Dysmetria OMIM:617931
Machado-Joseph Disease
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Ptosis, Rigidity, Dysto... ORPHA:70594
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Bilateral ptosis, Fatigable weakness of respiratory muscles, Gait imbalance, Scoliosis, Loss of a... ORPHA:329336
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Seizure, Focal tonic seizure, Limb tremor, Myoclonus OMIM:300699
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Tip-toe gait, Babinski sign, Steppage gait, Lower limb spasticity, Broad-based gait, Fasciculatio... OMIM:615290
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Vocal cord paralysis, Tremor OMIM:158580
Spastic Ataxia 3, Autosomal Recessive
Cerebellar vermis atrophy, Spasticity, Scoliosis, Cerebellar atrophy, Gait ataxia, Dystonia, Loss... OMIM:611390
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Spasticity, Tremor, Scoliosis OMIM:609260
Congenital Arthrogryposis With Anterior Horn Cell Disease
Difficulty walking, Inability to walk, Abnormal anterior horn cell morphology, Seizure, Facial di... OMIM:611890
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... OMIM:606693
Pulmonary Blastoma
Weight loss ORPHA:64741
Pontocerebellar Hypoplasia, Type 7
Optic atrophy, Hypertonia, Oculomotor apraxia, Tongue fasciculations, Spasticity, Seizure, Synoph... OMIM:614969
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Difficulty walking, Focal myoclonic seizure, Retinal dystrophy, Lo... ORPHA:464282
Stxbp1-Related Encephalopathy
Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia ORPHA:599373
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Neuroectodermal Melanolysosomal Disease
Hypertonia, Spasticity, Tremor, Rigidity, Ataxia, Cerebellar hypoplasia, Abnormal cerebellar verm... ORPHA:33445
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Cerebellar atrophy, Ptosis, Ataxia, Dysmetria OMIM:618098
Bilateral Frontoparietal Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Gait imbalance, Cerebellar vermis hypopla... ORPHA:101070
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Dysmetria, Myoclonus OMIM:618251
Spastic Ataxia, Charlevoix-Saguenay Type
Spastic gait, Babinski sign, Decreased sensory nerve conduction velocity, Distal sensory impairme... OMIM:270550
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Congenital ptosis, Hyperlordosis, Gait disturbance, Slender build ORPHA:352470
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Scoliosis, Kyphosis, Intention tremor, Ataxia, Abnormal pyramidal sign, Abnormality of th... ORPHA:48431
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Srd5A3-Cdg
Optic atrophy, Abnormal cerebellar vermis morphology, Optic disc hypoplasia, Seizure, Cerebellar ... ORPHA:324737
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Kyphosis, Failure to thrive, Dystonia, Spastic tetraplegia OMIM:618237
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Limb hypertonia, Abnormality of extrapyramidal motor function, Seizure, Scoliosis,... OMIM:619527
Benign Familial Neonatal Epilepsy
Simple febrile seizure, Focal-onset seizure, Neonatal seizure, Focal tonic seizure, Clonus, Statu... ORPHA:1949
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Masa Syndrome
Lower limb spasticity, Paraplegia, Hyperlordosis, Shuffling gait, Kyphosis, Spastic paraplegia OMIM:303350
Intellectual Developmental Disorder, Autosomal Recessive 48
Narrow palpebral fissure, Tremor, Waddling gait, Inability to walk OMIM:616269
Hyperekplexia 4
Kyphoscoliosis, Hypertonia, Seizure, Infantile spasms, Myoclonus OMIM:618011
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Limb hypertonia, Abnormality of extrapyramidal motor function, Chorea, Spastic... ORPHA:500180
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Cerebellar atrophy, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal... OMIM:613721
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Tremor, Episodic ataxia, Ptosis, Myoclonus, Choreoathetosis, Lethargy OMIM:312170
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia, Giant... OMIM:607876
Postencephalitic Parkinsonism
Bradykinesia, Bilateral ptosis, Babinski sign, Akinesia, Oculogyric crisis, Resting tremor, Tremo... ORPHA:97349
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Kyphoscoliosis, Inability to walk, Spasticity, Tremor, Cerebellar atrophy, Seizure... OMIM:617664
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Optic atrophy, Epileptic spasm, Appendicular spasticity, Seizure, Scoliosis, Hypoplasia of the po... OMIM:617669
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Myasthenic Syndrome, Congenital, 23, Presynaptic
Ptosis, Frequent falls OMIM:618197
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Hypertonia, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Myoclonus, Clonic s... OMIM:617290
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Waddling gait, Small for gestational age, Kyphosis OMIM:618392
Pontine Tegmental Cap Dysplasia
Oculomotor apraxia, Scoliosis, Hemivertebrae, Ptosis, Head titubation, Pontine tegmental cap, Ata... OMIM:614688
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Hypertonia, Scoliosis, Synophrys, Ptosis, Downslanted palpebral fissures, Abnormality of retinal ... ORPHA:1390
Spastic Paraplegia 79B, Autosomal Recessive
Optic atrophy, Babinski sign, Impaired proprioception, Hoffmann sign, Impaired vibration sensatio... OMIM:615491
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scoliosis, Kyphosis, Ptosis, Obesity, Scheuermann-like vertebral ... OMIM:301900
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Bi... OMIM:619725
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Impaired temperature sensation, Fasciculations, Impaired pain sensation, Scoliosi... OMIM:619574
Ataxia-Oculomotor Apraxia Type 4
Kyphoscoliosis, Oculomotor apraxia, Obesity, Dystonia, Ataxia, Somatic sensory dysfunction ORPHA:459033
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Kyphoscoliosis, Apraxia, Resting tremor, Scoliosis, Tr... OMIM:300055
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Myoclonus ORPHA:324588
Meckel Syndrome 13
Retinopathy, Cerebellar hypoplasia, Ataxia, Oculomotor apraxia OMIM:617562
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spinocerebellar Ataxia 34
Limb ataxia, Fasciculations, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Int... OMIM:133190
Thyrocerebrorenal Syndrome
Seizure, Nonprogressive cerebellar ataxia, Slurred speech, Myoclonus ORPHA:3327
Joubert Syndrome 35
Telecanthus, Oculomotor apraxia, Highly arched eyebrow, Cerebellar vermis hypoplasia, Elongated s... OMIM:618161
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Seizure,... OMIM:615673
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Scoliosis, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig... ORPHA:53351
Glycine Encephalopathy 1
Seizure, Lethargy, Myoclonus OMIM:605899
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Baralle-Macken Syndrome
Inability to walk, Spasticity, Kyphosis, Obesity, Dystonia, Upslanted palpebral fissure OMIM:619255
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Incoordination, Tremo... OMIM:302800
X-Linked Intellectual Disability Due To Gria3 Mutations
Babinski sign, Cerebellar vermis hypoplasia, Spasticity, Seizure, Scoliosis, Bilateral tonic-clon... ORPHA:364028
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Hyperkinetic movements, Focal motor seizure, Seizur... ORPHA:725
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Rigidity, Myoclonus OMIM:619057
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Scoliosis, Gait disturbance, Hemiplegia/hemiparesis, Dyst... ORPHA:96
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Impaired proprioception, Pontocerebellar atrophy, Oculomotor apraxia, Chorea, Scolio... OMIM:606002
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperkinetic movements, S... OMIM:271980
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Ptosis, Failure to thrive, Falls OMIM:616326
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, S... OMIM:618877
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis, Posterior fusion of lumbosacral vertebrae OMIM:192800
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Seizure, Spasticity, Ataxia, Myoclonus OMIM:620094
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Bone spicule pigmentation of the retina, Truncal titubation, Positive Ro... ORPHA:88628
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Ptosis, Prolonged miniature endplate currents, Decreased miniature endplate p... OMIM:616321
Jaberi-Elahi Syndrome
Inability to walk, Broad-based gait, Appendicular spasticity, Dandy-Walker malformation, Cerebell... OMIM:617988
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Spasticity, Athetosis, Cerebellar atrophy, Infantile spasms, Bila... OMIM:617493
Hypermanganesemia With Dystonia 2
Tip-toe gait, Babinski sign, Bradykinesia, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss ORPHA:178509
Diabetes And Deafness, Maternally Inherited
Seizure, Ptosis, Unsteady gait, Retinal degeneration, Pigmentary retinopathy OMIM:520000
Spinocerebellar Ataxia 6
Progressive cerebellar ataxia, Incoordination, Truncal ataxia, Cerebellar atrophy, Frequent falls... OMIM:183086
Juvenile Sialidosis Type 2
Optic atrophy, Generalized myoclonic seizure, Lower limb spasticity, Abnormal form of the vertebr... ORPHA:93399
Spinocerebellar Ataxia Type 1
Optic atrophy, Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Abnormal ner... ORPHA:98755
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Oculomotor apraxia, Ptosis, Dystonia, Ataxia, Generalized dystonia, Choreoat... OMIM:245348
Coenzyme Q10 Deficiency, Primary, 1
Right hemiplegia, Seizure, Tremor, Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Lo... OMIM:607426
Marinesco-Sjogren Syndrome
Limb ataxia, Cerebellar cortical atrophy, Spasticity, Scoliosis, Cerebellar atrophy, Kyphosis, Ga... OMIM:248800
Coffin-Siris Syndrome 8
Scoliosis, Long eyelashes, Ptosis, Failure to thrive, Thick eyebrow OMIM:618362
Developmental And Epileptic Encephalopathy 1
Hypertonia, Focal-onset seizure, Generalized myoclonic seizure, Erratic myoclonus, Focal motor se... OMIM:308350
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Antalgic... OMIM:620546
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Apraxia, Seizure, Gait disturbance, Myoclonus OMIM:618193
Ataxia-Telangiectasia-Like Disorder 1
Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Cerebellar atrophy, Freque... OMIM:604391
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Laryngeal... OMIM:606159
Peho Syndrome
Optic atrophy, Seizure, Cerebellar atrophy, Epicanthus, Myoclonus OMIM:260565
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Slender build, Ataxia, Weight loss OMIM:613662
Pelizaeus-Merzbacher Disease
Cachexia, Spasticity, Scoliosis, Gait disturbance, Kyphosis, Dystonia, Ataxia, Failure to thrive ... ORPHA:702
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Bilateral ptosis, Ataxia ORPHA:329314
Autism Spectrum Disorder Due To Auts2 Deficiency
Bilateral ptosis, Short palpebral fissure, Hypertonia, Highly arched eyebrow, Spasticity, Scolios... ORPHA:352490
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Ataxia, Choreoath... OMIM:612438
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos... OMIM:271530
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Epilepsia partialis continua, Difficulty walking, Appendicular spasticity, Cerebel... OMIM:620451
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ... OMIM:607483
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Joubert Syndrome 3
Retinal dystrophy, Oculomotor apraxia, Highly arched eyebrow, Cerebellar vermis hypoplasia, Elong... OMIM:608629
Spinocerebellar Ataxia 1
Fasciculations, Chorea, Impaired vibratory sensation, Optic atrophy, Babinski sign, Impaired prop... OMIM:164400
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Cerebellar atrophy, Abnormal p... OMIM:608768
Parkinson-Dementia Syndrome
Kyphoscoliosis, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:260540
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor neuron morphology, Fa... ORPHA:275872
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Severe Neurodegenerative Syndrome With Lipodystrophy
Spasticity, Tremor, Seizure, Poor motor coordination, Gait ataxia, Ataxia, Myoclonus, Abnormal py... ORPHA:363400
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Poretti-Boltshauser Syndrome
Retinal thinning, Cerebellar cyst, Oculomotor apraxia, Retinal dystrophy, Cerebellar vermis hypop... OMIM:615960
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Abnormal lacrimal duct morphology, Synophrys, Ptosis, Epicanthus, Blepharophimosis ORPHA:126
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss, Gait ataxia OMIM:612075
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Facial-lingual fasciculations, Cerebellar vermis hypoplasia, Dandy-Walker malforma... OMIM:617281
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Congenital Myopathy With Myasthenic-Like Onset
Ptosis, Scoliosis, Failure to thrive, Gait disturbance ORPHA:424107
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Bilateral tonic-cloni... OMIM:619913
Christianson Syndrome
Truncal ataxia, Cachexia, Cerebellar atrophy, Gait ataxia, Dystonia, Thick eyebrow, Aplasia/Hypop... ORPHA:85278
Sjögren-Larsson Syndrome
Macular degeneration, Spasticity, Seizure, Scoliosis, Kyphosis, Retinopathy, Abnormality of retin... ORPHA:816
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Gait disturbance, Ptosis, Ataxia OMIM:125250
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Downslanted palpebral fissures, Obesity, Kyphosis ORPHA:276630
Pelizaeus-Merzbacher Disease
Generalized dystonia, Inability to walk, Writer's cramp, Broad-based gait, Cerebellar vermis atro... OMIM:312080
Autism, Susceptibility To, X-Linked 6
Ptosis, Obesity OMIM:300872
Non-Distal Deletion 10Q
Gait disturbance, Synophrys, Ptosis, Ataxia, Epicanthus, Upslanted palpebral fissure ORPHA:1581
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ptosis, Ataxia, Pigmentary retinopathy, Myoclonus OMIM:560000
Mcdonough Syndrome
Short palpebral fissure, Cachexia, Scoliosis, Kyphosis, Synophrys, Ptosis ORPHA:2471
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Babinski sign, Kyphoscoliosis, Scissor gait, Lower limb spasticity, Seizure, Intent... ORPHA:466722
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Photosensitive tonic-clonic seizure, Generalized-onset s... ORPHA:307
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Babinski sign, Hypertonia, Focal-onset seizure, Generalized myoclonic seizure, Lim... OMIM:614498
Congenital Myasthenic Syndromes With Glycosylation Defect
Difficulty walking, Fatigable weakness, Scoliosis, Facial palsy, Waddling gait, Frequent falls, A... ORPHA:353327
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Appendicular spasticity, Seizure, Infantile spasms, Almond-shaped palpebral fissur... OMIM:620352
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Babinski sign, Seizure, Cerebellar atrophy, Ptosis, Ataxia, Lethargy OMIM:618226
Tay-Sachs Disease
Optic atrophy, Typical absence seizure, Inability to walk, Ankle clonus, Fasciculations, Incoordi... ORPHA:845
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typi... ORPHA:208447
Isolated Atp Synthase Deficiency
Optic atrophy, Tetraplegia, Seizure, Cerebellar atrophy, Spastic paraplegia, Ptosis, Myoclonic se... ORPHA:254913
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Thyrocerebroretinal Syndrome
Seizure, Ataxia, Slurred speech, Myoclonus OMIM:274240
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Hengel-Maroofian-Schols Syndrome
Gait imbalance, Inability to walk, Tetraplegia, Spasticity, Upper motor neuron dysfunction, Cereb... OMIM:619641
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Optic atrophy, Epileptic spasm, Spasticity, Seizure, Vocal cord paralysis, Scoliosis, Hypoplasia ... ORPHA:500144
Schindler Disease, Type I
Optic atrophy, Spasticity, Seizure, Myoclonus OMIM:609241
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Epicanthus OMIM:300434
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Titubation, Head tremor, Gait ataxia, Somatic sensory dysfunction, Dysmetria ORPHA:98771
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired distal proprioception, Positive Romberg sign, Seizure, Gait ataxia, Ptosis, Myoclonus, I... ORPHA:70595
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Apraxia, Abnormal upper motor neuron morphology, Spasticity, Seizure, Gait disturb... OMIM:221770
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Ptosis, Hypogonadism, Kyphosis, Gait disturbance ORPHA:1875
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Dysmetria OMIM:614867
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Babinski sign, Hypertonia, Chorea, Spasticity, Cerebral palsy, Ptosis, Dystonia, Choreoathetosis OMIM:618451
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Prominent protruding coccyx, Tremor, Synophrys, Long eyelashes, Abnormal sacral segmentation, Dow... ORPHA:480907
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Cerebellar dentate nucleus calcification, Dystonia, Ataxia,... ORPHA:542310
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Horizontal eyebrow, Ptosis, Epicanthus OMIM:619311
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis, Difficulty walking, Ataxia, Dystonia OMIM:616684
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Cerebellar atrophy, Ataxia, Testicular atrophy OMIM:613909
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, Babinski sign, Hyperkinetic movements, Cerebellar vermis hypoplasia, Spasticity, S... OMIM:620089
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Temporal optic disc pallor, Spasticity, Seizure, Cerebellar atrophy, Gait disturba... ORPHA:98673
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Impaired distal v... OMIM:300623
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Seizure, Unilateral ptosis OMIM:300928
Spinocerebellar Ataxia Type 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Resting tremor, Cerebellar v... ORPHA:458803
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Almond-shaped palpebral fissure, Slender build, Epicanthus, U... OMIM:300831
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Abnormality of extrapyramidal motor function, Spasticity, Seizure, Ataxia, Myoclon... OMIM:614299
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Gait disturbance, Almond-shaped palpebral fissure, Synophrys, Ptosis, Epic... ORPHA:589905
Hereditary Hyperekplexia
Hypertonia, Fasciculations, Spasticity, Seizure, Gait disturbance, Rigidity, Ataxia, Myoclonus ORPHA:3197
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cere... ORPHA:529665
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Upper motor neuron dysfu... ORPHA:204
Spermatogenic Failure 25
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia OMIM:617960
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Oromandibular Dystonia
Hyperkinetic movements, Torticollis, Lingual dystonia, Blepharospasm, Limb dystonia, Weight loss,... ORPHA:93958
Brown-Vialetto-Van Laere Syndrome 1
Gait imbalance, Tongue fasciculations, Truncal ataxia, Scoliosis, Facial palsy, Knee clonus, Voca... OMIM:211530
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia, Failure to thrive ORPHA:477673
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of ambulation, Post... OMIM:607694
4H Leukodystrophy
Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper motor neuron dysf... ORPHA:289494
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Telecanthus, Broad-based gait, Seizure, Long palpebral fissure, Myoclonus OMIM:616158
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Oculopharyngodistal Myopathy 3
Ptosis, Tremor, Ataxia, Pigmentary retinopathy OMIM:619473
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Kyphoscoliosis, Lower limb spasticity, Broad-based gait, Resting tremor, Tremor, Shuffling gait, ... ORPHA:3077
Ataxia With Vitamin E Deficiency
Xanthelasma, Impaired proprioception, Progressive cerebellar ataxia, Positive Romberg sign, Dysdi... OMIM:277460
Angelman Syndrome
Optic atrophy, Generalized myoclonic seizure, Inability to walk, Broad-based gait, Seizure, Tremo... ORPHA:72
Oculopharyngodistal Myopathy
Difficulty walking, Paraplegia, Vocal cord paresis, Loss of ambulation, Weight loss, Progressive ... ORPHA:98897
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Frequent falls, Gait... ORPHA:102
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
Unilateral ptosis, Unilateral narrow palpebral fissure OMIM:182875
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Tremor, Failure to thrive, Ataxia, Cerebellar hypoplasia OMIM:619556
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio... OMIM:607454
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Short palpebral fissure, Telecanthus, Ptosis, Epicanthus, Short neck, Blepharophi... OMIM:277720
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis, Abnormality of retinal pigmentation, Facial palsy, Hemiplegia ORPHA:2743
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Gait imbalance, Secondary amenorrhea, Incoordi... ORPHA:79239
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Bilateral ptosis, Downslanted palpebral fissures, Spasticity, Chiari type I malformation OMIM:618859
X-Linked Creatine Transporter Deficiency
Hypertonia, Chorea, Cachexia, Athetosis, Ptosis, Dystonia, Ataxia ORPHA:52503
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Steppage gait, Fasciculations, Impaired vibration sensation in the lower limbs, Frequent falls, P... ORPHA:521411
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Babinski sign, Inability to walk, Scoliosis, Exaggerated startle response, Kyphosi... OMIM:609541
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139431
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Difficulty walking, Focal-onset seizure, Chiari type I malformation, Sclerotic ver... OMIM:618476
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Hypertonia, Cerebellar vermis hypoplasia, Seizure, Spastic tetraparesis, Myoclon... ORPHA:284417
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Limb hypertonia, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypopla... OMIM:619909
Warburg Micro Syndrome 1
Optic atrophy, Kyphoscoliosis, Cerebellar vermis hypoplasia, Ptosis, Cerebellar hypoplasia, Spast... OMIM:600118
Spinocerebellar Ataxia Type 8
Bradykinesia, Limb ataxia, Spastic dysarthria, Cerebellar vermis atrophy, Spasticity, Cerebellar ... ORPHA:98760
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Trisomy 5P
Ptosis, Scoliosis, Obesity ORPHA:1742
Neurodevelopmental Disorder With Spasticity And Poor Growth
Babinski sign, Oculomotor apraxia, Limb hypertonia, Spasticity, Seizure, Infantile spasms, Scolio... OMIM:618076
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia ORPHA:1646
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Hyperlordosis, Cerebellar atrophy, Kyphosis, Hypergonadotropic hypogonadism... ORPHA:3085
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Babinski sign, Akinesia, Cerebellar cortical atrophy, Resting tremor, Macular degeneration, Spast... ORPHA:247234
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Craniofacial dystonia, Cerebella... ORPHA:420492
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Babinski sign, Spasticity, Spastic tetraparesis, Cerebellar atrophy, Gait disturbance, Ptosis, At... OMIM:615838
Episodic Ataxia Type 1
Tip-toe gait, Kyphoscoliosis, Hypertonia, Scoliosis, Cerebellar atrophy, Poor coordination, Clums... ORPHA:37612
Spermatogenic Failure 63
Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hypertonia, Inability to walk, Cachexia, Spasticity, Scoliosis, Ptosis, Downslanted palpebral fis... OMIM:616801
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619528
Posttransplant Acute Limbic Encephalitis
Seizure, Ataxia, Abnormal autonomic nervous system physiology, Myoclonus ORPHA:163921
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Positive Romberg sign, Dysdiadochokinesis, Seizure, Cerebellar atrophy, Gait distu... OMIM:301310
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hypertonia, Myoclonic seizure, Optic disc pallor, Myoclonus OMIM:618240
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Alzheimer Disease 3
Babinski sign, Apraxia, Optic ataxia, Abnormality of extrapyramidal motor function, Seizure, Spas... OMIM:607822
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Idiopathic Achalasia
Weight loss ORPHA:930
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Hypertonia, Dandy-Walker malformation, Spasticity, Seizure, Dilated fourth ventric... ORPHA:3078
Phenylketonuria
Tremor, Ataxia, Lower limb spasticity ORPHA:716
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Broad-based gait, Resting tremor, Axial... ORPHA:227510
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Falls, Hyperlordosis, Gait disturbance, Ptosis, Slender build OMIM:615156
Joubert Syndrome 1
Dysgenesis of the cerebellar vermis, Retinal dysplasia, Retinal dystrophy, Highly arched eyebrow,... OMIM:213300
Joubert Syndrome 30
Retinal dystrophy, Dandy-Walker malformation, Seizure, Cerebellar atrophy, Ptosis, Superior cereb... OMIM:617622
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Cerebellar atrophy, Facial palsy, Kyphosis, Hypergonadotropic hypogonadism, Ptos... OMIM:615084
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis, Posterior fusion of lumbosacral vertebrae, Sacral dimple, Abnormal form of the vertebral ... ORPHA:2064
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Ptosis, Obesity ORPHA:171706
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Seizure, Distal sensory impairment, Myoclonus OMIM:604218
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Babinski sign, Broad-based gait, Impaired distal proprioception, Positive Romberg sign, Seizure, ... OMIM:607459
4Q21 Microdeletion Syndrome
Scoliosis, Tremor, Kyphosis, Synophrys, Long eyelashes, Ptosis, Short neck, Cerebellar hypoplasia ORPHA:238750
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Chorea, Scoliosis, Cerebral palsy, Bilateral tonic-cloni... OMIM:617600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Tip-toe gait, Cerebellar cyst, Difficulty walking, Scoliosis, Hyperlordosis, Cerebellar atrophy, ... OMIM:606612
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Hypertonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Febrile seizure... ORPHA:289266
Spermatogenic Failure 30
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia OMIM:618110
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Arthrogryposis, Distal, Type 2B3
Scoliosis, Ptosis, Downslanted palpebral fissures OMIM:618436
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Spinal rigidity, Hyperlordosis, Gait disturbance ORPHA:157973
Spinal Muscular Atrophy, X-Linked 2
Decreased compound muscle action potential amplitude, Tongue fasciculations, Scoliosis, Facial pa... OMIM:301830
Rett Syndrome
Truncal ataxia, Spasticity, Scoliosis, Cachexia, Gait apraxia, Gait ataxia, Kyphosis, Dystonia OMIM:312750
Adenylosuccinase Deficiency
Inability to walk, Spasticity, Seizure, Cerebellar atrophy, Gait ataxia, Opisthotonus, Myoclonus,... OMIM:103050
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Frequent falls, Long eyelashes... OMIM:617523
Developmental And Epileptic Encephalopathy 84
Short palpebral fissure, Babinski sign, Chorea, Spasticity, Synophrys, Ptosis, Dystonia, Opisthot... OMIM:618792
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Frequent falls, Gait... ORPHA:98933
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
King-Denborough Syndrome
Kyphoscoliosis, Bilateral ptosis, Scoliosis, Thoracic kyphosis, Ptosis, Downslanted palpebral fis... OMIM:619542
Flynn-Aird Syndrome
Impaired pain sensation, Cachexia, Scoliosis, Kyphosis, Ataxia ORPHA:2047
Ophthalmoplegia, External, And Myopia
Ptosis, Retinal degeneration, Chorioretinal degeneration OMIM:311000
Gaucher Disease, Type Iii
Generalized myoclonic seizure, Spastic paraparesis, Ataxia, Myoclonus OMIM:231000
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Scoliosis, Tremor, Hemiparesis, Obesity, Epicanthus, Impaired vibratory sensation, Hy... OMIM:619737
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Positive Romberg sign, Truncal ataxia, Tremor, Spasticity, Abnormal auto... OMIM:105210
Sialidosis Type 2
Seizure, Tremor, Kyphosis, Ataxia, Abnormal macular morphology ORPHA:87876
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Cerebellar atrophy, Bilateral tonic-clonic seizure, Opisthotonus, Myoclonus, Cerebellar h... OMIM:616672
Adult Intestinal Botulism
Ptosis, Diaphragmatic paralysis, Cerebral palsy ORPHA:178487
Childhood-Onset Nemaline Myopathy
Bradykinesia, Spinal rigidity, Difficulty walking, Fatigable weakness of bulbar muscles, Scoliosi... ORPHA:171439
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Abnormal vertebral morphology, Retinal dystrophy, Oculomotor apraxia, High... ORPHA:220493
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Scoliosis, Hyperlordosis, Kyphosis, Synophrys, Ptosis, Downslanted palpebral fissu... OMIM:615761
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Cog8-Cdg
Cerebellar atrophy, Seizure, Ataxia, Myoclonus ORPHA:95428
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Impaired vibratory sensation, Ptosis, Impaired proprioception, Gait ataxia OMIM:243180
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar vermis atrophy, Spasticity, Tremor, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi... OMIM:614381
Perry Syndrome
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Short stepped shuf... OMIM:168605
Weiss-Kruszka Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Epicanthus ORPHA:502430
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Cerebellar atrophy, Exaggerated startle ... OMIM:618056
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Inability to walk, Spasticity, Frequent falls, Gait disturbance, Opisthotonus, Weig... ORPHA:216866
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system p... OMIM:146500
Wagr Syndrome
Scoliosis, Ptosis, Dysfunction of lateral corticospinal tracts, Obesity ORPHA:893
Retinal Dystrophy With Leukodystrophy
Bilateral ptosis, Truncal titubation, Falls, Waddling gait, Dysmetria OMIM:618863
Spermatogenic Failure 50
Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Hall-Riggs Syndrome
Scoliosis, Kyphosis, Failure to thrive, Irregular vertebral endplates, Epicanthus, Platyspondyly OMIM:234250
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Spinal rigidity, Kyphosis OMIM:618323
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Bilateral ptosis, Oculomotor apraxia, Chorea, Cerebellar atrophy, Focal emotional seizure with la... ORPHA:404454
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Rigidity, Ataxia, Somatic sensory dysfunction OMIM:603472
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Arthrogryposis, Distal, Type 5
Hypertonia, Scoliosis, Kyphosis, Ptosis, Abnormality of retinal pigmentation, Epicanthus, Blephar... OMIM:108145
Tubulinopathy-Associated Dysgyria
Generalized non-motor (absence) seizure, Bilateral ptosis, Startle-induced seizure, Oculomotor ap... ORPHA:467166
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Distal sensory impairment, Inability to walk, Tremor, Somatic sensory dysfun... ORPHA:90117
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Ataxia, Palatal tremor, Optic atrophy, Babinski sign, Abnormality of the vert... ORPHA:909
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Scoliosis, Premature ovarian insufficiency, Loss of ambulation, Female infertility OMIM:619518
Orofaciodigital Syndrome Type 3
Focal seizure with eyelid myoclonia, Oculomotor apraxia, Cerebellar vermis hypoplasia, Dandy-Walk... ORPHA:2752
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ptosis, Cachexia, Ataxia ORPHA:1933
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig... ORPHA:240085
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Spasticity, Seizure, Long eyel... OMIM:619076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Retinal dystrophy, Cerebellar vermis hypoplasia, Facial palsy, Cerebellar dysp... OMIM:613155
Neuraminidase Deficiency
Seizure, Cherry red spot of the macula, Myoclonus, Dysmetria, Slurred speech OMIM:256550
Hypertrichosis Cubiti
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... ORPHA:2220
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Epileptic spasm, Cerebellar atrophy, Myoclonus OMIM:619060
Neuroferritinopathy
Bradykinesia, Babinski sign, Difficulty walking, Resting tremor, Chorea, Abnormal dentate nucleus... ORPHA:157846
Birk-Landau-Perez Syndrome
Limb ataxia, Difficulty walking, Oculomotor apraxia, Limb hypertonia, Long eyelashes, Ptosis, Cam... OMIM:617595
Intellectual Developmental Disorder With Autism And Macrocephaly
Clumsiness, Ptosis, Downslanted palpebral fissures, Overweight OMIM:615032
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Spastic tetraparesis, Cerebella... OMIM:618598
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Ptosis, Scoliosis, Torticollis OMIM:618155
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Eyelid myoclonus, Absence seizure with eyelid myoclonia,... OMIM:613839
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Ptosis, Thick eyebrow OMIM:606242
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Cerebellar vermis hypoplasia, Spasticity, Tremor, Gait disturbance, Abnor... OMIM:300957
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Ataxia, Athetosis OMIM:617106
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Spasticity, Hyperlordosis, Cerebellar atrophy, Scoliosis, Kyphosis, Synophrys,... OMIM:618443
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperkinetic movements, Optic nerve h... OMIM:617302
Pyruvate Dehydrogenase Deficiency
Spasticity, Tremor, Cerebral palsy, Gait disturbance, Dystonia, Ataxia, Epicanthus, Abnormal pyra... ORPHA:765
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia OMIM:614307
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Dandy-Walker malformation, Optic nerve hypoplasia, Scoliosis, Hypoplasia of... OMIM:618736
Microtriplication 11Q24.1
Hyperkinetic movements, Scoliosis, Synophrys, Long eyelashes, Speech apraxia, Retrocerebellar cys... ORPHA:289522
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Bilateral ptosis, Temporal optic disc pallor, Absent brainstem auditory responses,... ORPHA:1215
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Difficulty walking, Lower limb spasticity, Impaired tactile sensation, Tetrapleg... ORPHA:206443
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Scoliosis, Hyperlordosis, Prolonged miniature endplate currents, Ptosis OMIM:603034
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... OMIM:619911
Inclusion Body Myopathy And Brain White Matter Abnormalities
Fasciculations, Ptosis, Low back pain, Babinski sign OMIM:619733
3-Methylglutaconic Aciduria Type 7
Hypertonia, Abnormality of extrapyramidal motor function, Spasticity, Seizure, Cerebellar atrophy... ORPHA:445038
Joubert Syndrome 7
Oculomotor apraxia, Retinal dystrophy, Scoliosis, Ptosis, Ataxia OMIM:611560
X-Linked Cerebral Adrenoleukodystrophy
Hoffmann sign, Difficulty walking, Inability to walk, Oculomotor apraxia, Lower limb spasticity, ... ORPHA:139396
Isolated Succinate-Coq Reductase Deficiency
Babinski sign, Spasticity, Spastic tetraparesis, Frequent falls, Lower limb hypertonia, Ataxia, L... ORPHA:3208
Microphthalmia, Syndromic 13
Kyphoscoliosis, Ptosis, Chorioretinal coloboma OMIM:300915
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Babinski sign, Gait imbalance, Oculomotor apraxia, Cerebellar vermis atrophy, Head tremor, Dyston... ORPHA:64753
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Babinski sign, Pontocerebellar atrophy, Difficulty walking, Oculomotor apraxia, Lo... ORPHA:171629
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Rigidity, Gait disturbance, Myoclonus OMIM:600795
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Oculomotor apraxia, Highly arched eyebrow, Seizure, Scoliosis, Gait distur... ORPHA:247262
Spinocerebellar Ataxia 27A
Limb ataxia, Abnormal vestibulo-ocular reflex, Cerebellar atrophy, Gait ataxia, Postural tremor, ... OMIM:193003
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Combined Oxidative Phosphorylation Defect Type 29
Abnormal autonomic nervous system physiology, Optic neuropathy, Myoclonic spasms, Retinopathy, Bi... ORPHA:478029
Myasthenic Syndrome, Congenital, 10
Ptosis, Waddling gait, Fatigable weakness OMIM:254300
Congenital Sialidosis Type 2
Optic atrophy, Yellow/white lesions of the retina, Spasticity, Seizure, Ataxia, Hypoplasia of the... ORPHA:93400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Bradykinesia, Premature ovarian insufficiency, Resting tremor, Impaired distal proprioception, Se... OMIM:157640
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Ptosis, Thick eyebrow, Upslanted palpebral fissure, Chorea OMIM:620535
Proteus Syndrome
Kyphoscoliosis, Ptosis, Downslanted palpebral fissures, Spinal canal stenosis, Limbal dermoid OMIM:176920
Myasthenic Syndrome, Congenital, 14
Fatigable weakness, Scoliosis, Hyperlordosis, Waddling gait, Ptosis OMIM:616228
Leigh Syndrome
Optic atrophy, Spasticity, Seizure, Ptosis, Ataxia, Pigmentary retinopathy OMIM:256000
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
Coach Syndrome 3
Ptosis, Ataxia, Oculomotor apraxia OMIM:619113
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Seizure, Infantile spasms, Spastic tetraparesis, Ptosis, Myoclonus OMIM:614261
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Torticollis, Limb hypertonia, Athetosis, Blepharospasm, Exaggerated startle respon... OMIM:608643
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Combined Oxidative Phosphorylation Defect Type 7
Difficulty walking, Distal sensory impairment, Inability to walk, Ptosis, Failure to thrive, Atax... ORPHA:254930
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Axial dystonia... OMIM:612953
Migraine, Familial Hemiplegic, 2
Apraxia, Tremor, Cerebellar atrophy, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysme... OMIM:602481
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Tremor, Hyperlordosis, Gait disturbance, Aplasia/Hypoplasia of the cerebellum ORPHA:1192
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Inab... ORPHA:501
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Tip-toe gait, Decreased distal sensory nerve action potential, Difficulty walking,... ORPHA:99956
Congenital Myopathy 6 With Ophthalmoplegia
Ptosis, Scoliosis, Waddling gait OMIM:605637
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis OMIM:617732
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Ptosis, Obesity, Blepharophimosis, Telecanthus OMIM:606772
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Ptosis, Scoliosis, Facial palsy, Decreased miniature endplate potentials OMIM:608930
Microcephalic Primordial Dwarfism, Montreal Type
Hypertonia, Scoliosis, Vertebral segmentation defect, Kyphosis, Ptosis ORPHA:2617
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Ptosis, Ataxia, Parkinsonism, Babinski sign OMIM:615911
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Falls, Progressive extrapyramidal muscular rigidity, Axia... ORPHA:240071
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Joubert Syndrome 26
Cerebellar vermis hypoplasia, Ptosis OMIM:616784
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Den Hoed-De Boer-Voisin Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... OMIM:619229
Ring Chromosome 1 Syndrome
Ptosis, Downslanted palpebral fissures, Telecanthus ORPHA:1437
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Difficulty walking, Progressive cerebellar ataxia, Spastic dysarthria, Spinocerebellar atrophy, I... ORPHA:95433
Zimmermann-Laband Syndrome 3
Kyphosis, Thick eyebrow, Synophrys, Long eyelashes OMIM:618658
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Tremor ORPHA:457365
Proximal Xq28 Duplication Syndrome
Ptosis, Gait disturbance, Blepharophimosis, Epicanthus ORPHA:1762
Epilepsy, Progressive Myoclonic, 10
Generalized myoclonic seizure, Progressive cerebellar ataxia, Spasticity, Seizure, Ataxia, Spasti... OMIM:616640
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
3-Methylglutaconic Aciduria, Type Viib
Hyperkinetic movements, Spasticity, Tremor, Cerebellar atrophy, Seizure, Ataxia, Opisthotonus, My... OMIM:616271
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Scoliosis, Hemivertebrae, Tremor, Sparse eyelashes, Failure to thrive,... ORPHA:370079
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Kleefstra Syndrome 2
Scoliosis, Thick eyebrow, Kyphosis OMIM:617768
Typical Nemaline Myopathy
Fatigable weakness of respiratory muscles, Spinal rigidity, Scoliosis, Facial diplegia, Facial pa... ORPHA:171436
D-Glyceric Aciduria
Focal clonic seizure, Appendicular spasticity, Optic nerve hypoplasia, Spasticity, Seizure, Bilat... OMIM:220120
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Retinal dystrophy, Highly arched eyebrow, Cerebellar vermis hypoplasia, Se... ORPHA:2318
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Seizure, Infantile spasms, Cerebellar atrophy, Scoliosis, Kyphosis, Long palpebral fissure OMIM:619797
Joubert Syndrome
Oculomotor apraxia, Abnormal form of the vertebral bodies, Highly arched eyebrow, Cerebellar verm... ORPHA:475
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Waddling gait, Facial palsy, Kyphosis, Ptosis OMIM:255200
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Telecanthus, Ptosis, Sparse eyebrow, Dystonia, Thick eyebrow, Epicanthus OMIM:617268
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Tremor, Distal sensory impairment, Gait disturbance OMIM:118300
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Abnormal form of the vertebral bodies, Ptosis, Chiari malformation, Abnormal sacru... ORPHA:93262
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Distichiasis ORPHA:2598
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis, Abnormal retinal morphology ORPHA:2786
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Telecanthus, Highly arched eyebrow, Ptosis, Epicanthus inversus,... OMIM:110100
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spastic par... OMIM:300894
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Oculogyric crisis, Limb hypertonia, Tremor, Ptosis, Failure to thrive, Dystonia ORPHA:35708
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Ectropion, S-shaped palpebral fissures, Highly arched eyebrow, Punctal stenosis, Secondary amenor... ORPHA:572333
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Oculopharyngeal Muscular Dystrophy
Ptosis, Spondylolisthesis ORPHA:270
Oculopharyngodistal Myopathy 4
Postural tremor, Ptosis, Tremor OMIM:619790
Mosaic Trisomy 14
Ptosis, Failure to thrive, Short neck, Blepharophimosis ORPHA:1703
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor, Weight loss OMIM:613239
Thymic Carcinoma
Diaphragmatic paralysis, Palpebral edema, Weight loss ORPHA:99868
Japanese Encephalitis
Pill-rolling tremor, Hypertonia, Paralysis, Eyelid fasciculation, Respiratory paralysis, Abnormal... ORPHA:79139
Joubert Syndrome 8
Hypertonia, Oculomotor apraxia, Optic disc pallor, Ptosis, Ataxia, Pigmentary retinopathy OMIM:612291
Tremor, Nystagmus, And Duodenal Ulcer
Abnormal cerebellum morphology, Kinetic tremor, Tremor OMIM:190310
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss, Myoclonus, Horner syndrome OMIM:256700
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Babinski sign, Spasticity, Shuffling gait, Abnormal autonomic nervous system physio... ORPHA:171695
Sandhoff Disease, Infantile Form
Spasticity, Seizure, Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seiz... ORPHA:309155
Combined Oxidative Phosphorylation Deficiency 7
Distal sensory impairment, Failure to thrive, Ptosis, Ataxia, Facial paralysis OMIM:613559
O'Donnell-Luria-Rodan Syndrome
Seizure, Downslanted palpebral fissures, Kyphosis OMIM:618512
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Epileptic spasm, Telecanthus, Bilateral tonic-clonic seizure with generalized onset, Seizure, Foc... ORPHA:314655
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Ptosis, Scoliosis, Epicanthus ORPHA:1825
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Cerebellar atrophy, Kyphosis, Hypergonadotropic hypogonadism, Ptosis, Neuropathi... ORPHA:352447
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Ptosis, Decreased body weight OMIM:300580
Dystonia-Deafness Syndrome 1
Kyphoscoliosis, Leg dystonia, Oculogyric crisis, Loss of ambulation, Generalized dystonia, Small ... OMIM:607371
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Scoliosis, Ptosis, Spinal rigidity, Loss of ambulation OMIM:619566
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Oculomotor apraxia, Highly arched eyebrow, Cerebellar vermis hypoplasia, S... ORPHA:220497
Neuropathy, Congenital Hypomyelinating, 3
Babinski sign, Cachexia, Spasticity, Cerebellar atrophy, Ptosis, Dystonia, Epicanthus OMIM:618186
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Ptosis, Epicanthus ORPHA:1373
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Impaired distal vibration sensation, Gait ataxia, Action tremor, Head titubation, A... ORPHA:99027
Winchester Syndrome
Kyphosis OMIM:277950
Arthrogryposis, Distal, Type 7
Ptosis OMIM:158300
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Scoliosis, Seizure, Infantile spasms, Cervical platyspondyly, Ptosis, Cerebellar hypoplasia OMIM:618731
Wolfram Syndrome 1
Optic atrophy, Seizure, Tremor, Ptosis, Ataxia, Testicular atrophy, Pigmentary retinopathy OMIM:222300
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Babinski sign, Hypertonia, Spasticity, Seizure, Cerebral palsy, Clonus, Febrile seizure (within t... OMIM:619847
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Ptosis, Abnormal fundus morphology, Epicanthus ORPHA:2958
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Cerebellar atrophy, Intention tremor, Action tremor, Gait ataxia, Unst... OMIM:254900
Developmental And Epileptic Encephalopathy 100
Short palpebral fissure, Typical absence seizure, Focal-onset seizure, Myoclonic status epileptic... OMIM:619777
Aceruloplasminemia
Limb ataxia, Akinesia, Torticollis, Chorea, Abnormal dentate nucleus morphology, Tremor, Blepharo... ORPHA:48818
Saccharopinuria
Tremor, Distal sensory impairment, Spastic diplegia, Gait ataxia ORPHA:3124
Hypotonia-Cystinuria Syndrome
Ptosis, Failure to thrive, Epicanthus ORPHA:163690
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Chronic Hiccup
Weight loss ORPHA:396
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Generalized dystonia, Abnormality of extrapyramidal motor ... OMIM:614298
Pyridoxal Phosphate-Responsive Seizures
Hypertonia, Seizure, Unsteady gait, Myoclonus, Status epilepticus ORPHA:79096
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cerebellar vermis atrophy, Seizure, Tremor, Kyphosis, Gait ataxia, Hypogonadism OMIM:300354
X-Linked Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Spinal rigidity, Scoliosis, Hyperlordosis, Vocal cord paralysis, Waddling gait, Gai... ORPHA:98863
Gm1 Gangliosidosis
Platyspondyly, Abnormal form of the vertebral bodies, Abnormality of extrapyramidal motor functio... ORPHA:354
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Apraxia, Oculomotor apraxia, Seizure, Ataxia, Parkinsonism, Myoclonus ORPHA:1020
Tetrasomy 12P
Telecanthus, Cachexia, Ptosis, Sparse eyebrow, Short neck, Upslanted palpebral fissure ORPHA:884
Oculopharyngeal Muscular Dystrophy 2
Ptosis, Loss of ambulation OMIM:620460
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Refsum Disease, Classic
Ptosis, Ataxia, Retinal degeneration, Rod-cone dystrophy, Somatic sensory dysfunction OMIM:266500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar d... OMIM:615181
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Ptosis, Facial palsy, Fatigable weakness OMIM:616322
Multiple Mitochondrial Dysfunctions Syndrome 1
Focal-onset seizure, Abnormality of extrapyramidal motor function, Spastic tetraparesis, Opisthot... OMIM:605711
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Cachexia, Scoliosis, Tremor, Kyphosis, Synophrys, Downslanted palpebral fissure... ORPHA:85293
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ptosis, Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature en... OMIM:254210
Subacute Inflammatory Demyelinating Polyneuropathy
Steppage gait, Difficulty walking, Distal sensory impairment, Positive Romberg sign, Tremor, Freq... ORPHA:206594
Congenital Myopathy 4A, Autosomal Dominant
Ptosis, Scoliosis, Failure to thrive, Lumbar hyperlordosis OMIM:255310
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ptosis, Ataxia, Gait ataxia OMIM:613077
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis, Downslanted palpebral fissures, Thick e... OMIM:300590
11Q22.2Q22.3 Microdeletion Syndrome
Ptosis, Obesity, Thick eyebrow, Epicanthus ORPHA:444002
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Kyphoscoliosis, Bilateral ptosis, Focal-onset seizure, Torticollis, Oculomotor apraxia, Inability... ORPHA:300570
Dystonia-Aphonia Syndrome
Seizure, Cerebellar atrophy, Gait disturbance, Unsteady gait, Myoclonus ORPHA:412217
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bilateral ptosis, Highly arched eyebrow, Seizure, Scoliosis, Cerebellar atrophy, Focal emotional ... ORPHA:329224
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Falls, Impaired v... ORPHA:447753
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Dy... OMIM:617675
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Hyperkinetic movements, Inability to walk, Loss of ability to walk in early childhood, Spasticity... OMIM:612073
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Tip-toe gait, Difficulty walking, Scoliosis, Hyperlordosis, Waddling gait, Frequent falls, Kyphos... OMIM:607155
Distal Duplication 15Q
Hypertonia, Ptosis, Downslanted palpebral fissures, Short neck, Blepharophimosis ORPHA:1707
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy, Fatigable weakness OMIM:616325
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Torticollis, Scoliosis, Kyphosis, Frequent falls, Short neck ORPHA:75840
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Seizure, Tremor, Scoliosis, Ataxia, Myoclonus ORPHA:98794
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Impaired distal vibration sensation, Spasticity, Gait disturb... OMIM:616586
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ptosis, Facial palsy OMIM:609283
Joubert Syndrome 14
Optic atrophy, Highly arched eyebrow, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Pt... OMIM:614424
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Seizure, Ataxia, Optic disc pallor, Myoclonus OMIM:619167
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Generalized non-motor (absence) seizure, Inability to walk by childhood/adolescence, Cervical spi... OMIM:620224
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Scoliosis, Kyphosis, Abnormality of the palpebral fissures ORPHA:178148
Char Syndrome
Highly arched eyebrow, Ptosis, Thick eyebrow OMIM:169100
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Holocarboxylase Synthetase Deficiency
Keratoconjunctivitis, Ataxia, Weight loss ORPHA:79242
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Difficulty walking, Hyperkinetic movements, Chorea, Seizure, Truncal ataxia, Scoliosis ORPHA:369847
Wieacker-Wolff Syndrome
Apraxia, Oculomotor apraxia, Spasticity, Hyperlordosis, Scoliosis, Kyphosis, Ptosis, Dystonia, Sh... OMIM:314580
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Inability to wa... OMIM:218000
Valinemia
Hyperkinetic movements OMIM:277100
Sclerosteosis
Optic atrophy, Ptosis, Facial palsy ORPHA:3152
Warburg Micro Syndrome 4
Optic atrophy, Babinski sign, Inability to walk, Seizure, Cerebellar atrophy, Ptosis, Spastic tet... OMIM:615663
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Difficulty walking, Hyperkinetic movements, Inability to walk, Chorea, Truncal ataxia, Tremor, At... OMIM:615356
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Limb hypertonia, Tremor, Athetosis, Cerebellar atrophy, Dystonia, Ataxia, Spastic tet... OMIM:617710
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis, Progressive spasticity OMIM:619972
Zimmermann-Laband Syndrome 2
Kyphosis, Synophrys, Long eyelashes, Thick eyebrow, Short neck OMIM:616455
Pure Mitochondrial Myopathy
Bilateral ptosis, Fatigable weakness of bulbar muscles, Scoliosis, Waddling gait, Frequent falls,... ORPHA:254854
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Seizure, Tremor, Gait disturbance, Bilateral tonic-clonic seizure, Cerebe... ORPHA:457240
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Scoliosis, Kyphosis, Gait disturbance ORPHA:2181
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Cerebellar vermis hypoplasia, Seizure, Tremor, Cerebellar atroph... OMIM:212065
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ptosis, Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature en... OMIM:605809
D-Glyceric Aciduria
Seizure, Chorea, Spasticity, Myoclonus ORPHA:941
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis, Pigmentary retinopathy OMIM:618234
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ptosis, Failure to thrive, Ataxia OMIM:619046
Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Spinal rigidity, Scoliosis, Hyperlordosis, Vocal cord paralysis, Waddling gait, Gai... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Spinal rigidity, Scoliosis, Hyperlordosis, Vocal cord paralysis, Waddling gait, Gai... ORPHA:98853
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Highly arched eyebrow, Generalized-... OMIM:615476
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Ptosis, Spasticity, Chorea OMIM:620149
Houge-Janssens Syndrome 1
Scoliosis, Ptosis, Downslanted palpebral fissures, Gait ataxia OMIM:616355
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Seizure, Spasticity, Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Febril... OMIM:612949
Orofaciodigital Syndrome Xvi
Short palpebral fissure, Inability to walk, Oculomotor apraxia, Retinopathy, Ptosis, Ataxia OMIM:617563
Freeman-Sheldon Syndrome
Scoliosis, Ptosis, Downslanted palpebral fissures, Failure to thrive ORPHA:2053
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Congenital ptosis, Fatigable weakness OMIM:254190
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Ptosis, Retinal detachment, Chorioretinal coloboma ORPHA:1473
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Crouzon Syndrome
Optic atrophy, Ptosis, Conjunctivitis, Chiari malformation, Cerebellar hypoplasia, Abnormal sacru... ORPHA:207
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Seizure, Abnormal s... OMIM:208900
Developmental And Epileptic Encephalopathy 68
Spasticity, Exaggerated startle response, Clonus, Myoclonus, Status epilepticus OMIM:618201
Hsd10 Disease, Infantile Type
Optic atrophy, Hyperkinetic movements, Seizure, Spastic tetraparesis, Loss of ambulation, Poor co... ORPHA:391428
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Xeroderma Pigmentosum, Complementation Group F
Scoliosis, Tremor, Ataxia, Decreased body weight OMIM:278760
Fatal Familial Insomnia
Ataxia, Weight loss, Myoclonus OMIM:600072
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Seizure, Tremor, Rigidity, Choreoathetosis, Lethargy OMIM:233910
Chromosome 3Pter-P25 Deletion Syndrome
Sacral dimple, Highly arched eyebrow, Spasticity, Seizure, Synophrys, Ptosis, Epicanthus, Upslant... OMIM:613792
Nipah Virus Disease
Seizure, Tremor, Myoclonus ORPHA:99825
Blepharophimosis-Impaired Intellectual Development Syndrome
Highly arched eyebrow, Seizure, Scoliosis, Synophrys, Sparse eyelashes, Long eyelashes, Ptosis, S... OMIM:619293
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Telecanthus, Lower limb spasticity, Optic nerve hypoplasia, Scoliosis, Facial pals... ORPHA:261349
Radio-Tartaglia Syndrome
Gait imbalance, Highly arched eyebrow, Scoliosis, Tremor, Long eyebrows, Long eyelashes, Synophry... OMIM:619312
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Seizure, Sensory ataxia, Gait disturbance, Ptosis, Parkinsonism,... OMIM:609286
Cardiofaciocutaneous Syndrome 4
Telecanthus, Optic nerve hypoplasia, Scoliosis, Absent eyebrow, Sparse eyelashes, Ptosis, Epicant... OMIM:615280
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Lower limb spasticity, Chorea, Progressive spasticity, Decreased body weight, ... OMIM:300260
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Babinski sign, Truncal ataxia, Spasticity, Seizure, Cerebellar atrophy, Scoliosis, Lower limb hyp... OMIM:301072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Seizure, Decreased nerve conduction velocity, Waddling gait, Kyphosis OMIM:618138
Fibrosis Of Extraocular Muscles, Congenital, 1
Bilateral ptosis, Levator palpebrae superioris atrophy, Congenital fibrosis of extraocular muscle... OMIM:135700
Coffin-Siris Syndrome 5
Dandy-Walker malformation, Seizure, Long eyelashes, Ptosis, Thick eyebrow, Cerebellar hypoplasia OMIM:616938
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Seizure, Spastic tetraparesis, Gait disturbance, Ptosis, Ataxia, Fatigable weaknes... ORPHA:436271
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology, Ptosis OMIM:258470
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Ptosis, Failure to thrive, Short neck OMIM:618958
Congenital Myopathy 19
Ptosis, Scoliosis, Gait disturbance OMIM:618578
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Liposarcoma
Weight loss, Paresthesia ORPHA:69078
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Long eyelashes, Synophrys, Ptosis, Downslanted palpebral fissures, Speech ... OMIM:615009
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Myoclonus OMIM:619609
Glossopharyngeal Neuralgia
Chiari type I malformation, Dysesthesia, Vocal cord paralysis, Weight loss, Abnormality of the ce... ORPHA:221098
Chromosome 2P16.1-P15 Deletion Syndrome
Kyphoscoliosis, Short palpebral fissure, Telecanthus, Optic nerve hypoplasia, Spasticity, Hypopla... OMIM:612513
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... ORPHA:261529
Bachmann-Bupp Syndrome
Large for gestational age, Dysgenesis of the cerebellar vermis, Lower limb spasticity, Absent eye... OMIM:619075
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Shuffling gait, Gait disturbance, Rigidity, Loss of ambulation, Par... OMIM:168601
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Hyperkinetic movements ORPHA:397933
Joubert Syndrome With Hepatic Defect
Oculomotor apraxia, Highly arched eyebrow, Cerebellar vermis hypoplasia, Seizure, Tremor, Scolios... ORPHA:1454
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Broad eyebrow, Cerebellar vermis hypoplasia, Seizure, Scoliosis, Ptosis, Chorioret... ORPHA:494344
Legius Syndrome
Ptosis, Downslanted palpebral fissures, Short neck, Epicanthus OMIM:611431
Chromosome 3Q13.31 Deletion Syndrome
Ptosis, Downslanted palpebral fissures, Kyphosis, Epicanthus OMIM:615433
Takenouchi-Kosaki Syndrome
Optic atrophy, Highly arched eyebrow, Seizure, Scoliosis, Cerebellar atrophy, Synophrys, Ptosis, ... OMIM:616737
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scoliosis, Tremor, Kyphosis, Synophrys, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Ep... OMIM:617061
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Chorea, Seizure, Infantile spasms, Gait ataxia, Ataxia, Myoclonus, Spastic tetraplegia, Lethargy OMIM:618321
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Seizure, Cerebellar atrophy, Kyphosis, Intention tremor, Hypoplasia of the pons, H... OMIM:619708
Developmental And Epileptic Encephalopathy 2
Generalized myoclonic seizure, Inability to walk, Seizure, Infantile spasms, Generalized-onset se... OMIM:300672
Cornelia De Lange Syndrome 5
Telecanthus, Highly arched eyebrow, Seizure, Synophrys, Long eyelashes, Ptosis, Hypogonadism, Sho... OMIM:300882
Coffin-Siris Syndrome 3
Dandy-Walker malformation, Seizure, Scoliosis, Long eyelashes, Ptosis, Thick eyebrow, Cerebellar ... OMIM:614608
Mulibrey Nanism
Cachexia ORPHA:2576
Foxp1 Syndrome
Oromotor apraxia, Spasticity, Ptosis, Downslanted palpebral fissures, Failure to thrive, Overweig... ORPHA:391372
Joubert Syndrome 37
Oculomotor apraxia, Cerebellar vermis hypoplasia, Ptosis, Obesity, Lumbar hyperlordosis OMIM:619185
Cockayne Syndrome Type 2
Difficulty walking, Lower limb spasticity, Limb hypertonia, Scoliosis, Gait disturbance, Kyphosis... ORPHA:90322
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Myoclonus OMIM:616398
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Hadziselimovic Syndrome
Ptosis, Failure to thrive, Epicanthus, Cerebellar hypoplasia OMIM:612946
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Difficulty walking, Scoliosis, Waddling gait, Kyphosis, Synophrys, Downslanted pa... OMIM:300280
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Ptosis, Weight loss, Abnormality of the extraocular muscles, Paresthesia ORPHA:298
Progressive Hemifacial Atrophy
Ptosis, Seizure ORPHA:1214
Mitochondrial Dna Depletion Syndrome 19
Focal-onset seizure, Spasticity, Infantile spasms, Myoclonus, Tetraparesis OMIM:618972
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Distal sensory impairment, Torticolli... OMIM:609136
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis, Gait disturbance ORPHA:85193
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Ptosis, Obesity, Blepharophimosis, Telecanthus ORPHA:397973
Hypomelanosis Of Ito
Scoliosis, Kyphosis, Epicanthus OMIM:300337
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ptosis OMIM:617069
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Shuffling gait, Waddling gait, Loss of ambulation ORPHA:209335
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Synophrys, Ptosis, Thick eyebrow, Blepharophimosis ORPHA:2057
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Small for gestational age, Kyphosis OMIM:618484
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Hyperkinetic movements, Highly arched eyebrow, Gait disturbance, Long palpebral fissure, Ptosis OMIM:620469
Schaaf-Yang Syndrome
Short palpebral fissure, Inability to walk, Scoliosis, Kyphosis, Obesity, Thick eyebrow, Failure ... OMIM:615547
Cluster Headache, Familial
Ptosis OMIM:119915
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Hyperkinetic movements, Truncal ataxia, Loss of ability to walk in first decade, Seizure, Cerebel... OMIM:300243
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Slanting of the palpebral fissure, Congenital ptosis, Scoliosis, Tremor, Kyphosis, Gait ataxia, S... ORPHA:476126
Lathosterolosis
Cerebellar cortical atrophy, Seizure, Abnormal thoracic spine morphology, Ptosis, Downslanted pal... ORPHA:46059
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Spastic... ORPHA:1934
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Prominent protruding coccyx, Gait imbalance, Cerebellar vermis hypoplasia, Spastic... OMIM:300966
Ververi-Brady Syndrome
Scoliosis, Intention tremor, Ptosis, Unsteady gait, Upslanted palpebral fissure OMIM:617982
Developmental And Epileptic Encephalopathy 72
Infantile spasms, Hyperkinetic movements, Inability to walk OMIM:618374
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Chiari type I malformation, Scoliosis, Ptosis, Thoracolumbar scoliosis, Epicanthu... OMIM:114300
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of respiratory muscles, Scoliosis, Thoracic kyphoscoliosis, Facial palsy, Decr... ORPHA:98913
Stiff-Person Syndrome
Frequent falls, Exaggerated startle response, Myoclonic spasms, Rigidity, Opisthotonus, Lumbar hy... OMIM:184850
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Alexander Disease
Chorea, Tetraplegia, Tremor, Spasticity, Hyperlordosis, Gait disturbance, Clonus, Kyphosis, Ptosi... ORPHA:58
Coach Syndrome 1
Oculomotor apraxia, Cerebellar vermis hypoplasia, Spasticity, Seizure, Ptosis, Ataxia, Aplasia/Hy... OMIM:216360
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis OMIM:618393
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Gait ataxia, Ptosis, Downslanted palpebral fissures, Eyelid coloboma OMIM:268850
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia, Scoliosis, Hyperesthesia, Downslanted palpebral fissures, Spa... ORPHA:371364
Early-Onset Lafora Body Disease
Seizure, Spastic tetraparesis, Ataxia, Myoclonus ORPHA:324290
Craniosynostosis 6
Spina bifida occulta, Dandy-Walker malformation, Scoliosis, Cerebellar atrophy, Ptosis OMIM:616602
Meckel Syndrome, Type 10
Sacral dimple, Dandy-Walker malformation, Seizure, Dilated fourth ventricle, Ptosis, Epicanthus, ... OMIM:614175
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Fliedner-Zweier Syndrome
Hypertonia, Scoliosis, Cerebellar atrophy, Kyphosis, Obesity, Epicanthus OMIM:620511
Subependymal Nodular Heterotopia
Focal-onset seizure, Seizure, Focal aware seizure, Limb myoclonus, Acroparesthesia ORPHA:101030
9P13 Microdeletion Syndrome
Highly arched eyebrow, Scoliosis, Thick eyebrow, Epicanthus, Myoclonus, Hand tremor ORPHA:324313
Micro Syndrome
Optic atrophy, Cerebellar vermis hypoplasia, Spasticity, Seizure, Scoliosis, Kyphosis, Retinal co... ORPHA:2510
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Spasticity, Seizure, Cerebellar atrophy, Ptosis, Status epilepticus OMIM:616239
Scapuloperoneal Spinal Muscular Atrophy
Distal sensory impairment, Torticollis, Broad-based gait, Scoliosis, Hyperlordosis, Kyphosis OMIM:181405
Baraitser-Winter Syndrome 2
Telecanthus, Highly arched eyebrow, Long palpebral fissure, Ptosis, Short neck OMIM:614583
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Scoliosis, Waddling gait, Ptosis, Short neck, Coronal cleft vertebrae, Platyspond... OMIM:255800
Clark-Baraitser syndrome
Scoliosis, Downslanted palpebral fissures, Obesity, Kyphosis OMIM:300602
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Hyperkinetic movements, Chorea, Seizure, Athetosis, ... OMIM:615273
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Akinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medi... ORPHA:411602
Ruvalcaba Syndrome
Scoliosis, Downslanted palpebral fissures, Kyphosis, Retinal dystrophy OMIM:180870
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Seizure, Rigidity, Myoclonus OMIM:300673
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Ptosis, Hypertonia, Cerebellar hypoplasia OMIM:615351
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Hypertonia ORPHA:1389
Neonatal Adrenoleukodystrophy
Optic atrophy, Ptosis, Seizure, Abnormality of retinal pigmentation ORPHA:44
Refsum Disease
Retinopathy, Ptosis, Hemiplegia/hemiparesis, Abnormality of retinal pigmentation, Ataxia, Abnorma... ORPHA:773
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Ptosis, Downslanted palpebral fissures, Unilateral narrow palpebral fissure ORPHA:3038
Combined Oxidative Phosphorylation Deficiency 57
Seizure, Myoclonus, Bull's eye maculopathy OMIM:620167
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Ascher Syndrome
Ptosis, Abnormal eyelid morphology, Blepharophimosis, Upper eyelid edema ORPHA:1253
Acquired Hypertrichosis Lanuginosa
Abnormal eyelid morphology, Abnormal eyebrow morphology, Weight loss ORPHA:2221
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Horizontal eyebrow, Ptosis, Ataxia, Epicanthus, Short neck, Spastic paraparesis, ... ORPHA:369891
Frontoocular Syndrome
Short palpebral fissure, Ptosis, Epicanthus, Upslanted palpebral fissure, Blepharophimosis OMIM:605321
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Fatigable weakness of skeletal muscles, Ptosis OMIM:616324
Leukodystrophy, Hypomyelinating, 10
Babinski sign, Hyperkinetic movements, Inability to walk, Spasticity, Seizure, Downslanted palpeb... OMIM:616420
Prieto Syndrome
Ptosis, Epicanthus OMIM:309610
Myasthenic Syndrome, Congenital, 22
Ptosis, Waddling gait OMIM:616224
Rhabdoid Tumor
Hemiplegia, Cerebral palsy, Weight loss ORPHA:69077
Mohr-Tranebjaerg Syndrome
Babinski sign, Oromandibular dystonia, Generalized dystonia, Inability to walk, Apraxia, Tremor, ... ORPHA:52368
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Limb hypertonia, Highly arched eyebrow, Scoliosis, Kyphosis, Syn... OMIM:617190
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Ptosis, Short neck ORPHA:2522
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Kyphosis, Obesity, Epicanthus, Short neck ORPHA:3191
Chromosome Xq13 Duplication Syndrome
Short palpebral fissure, Medial flaring of the eyebrow, Highly arched eyebrow, Seizure, Almond-sh... OMIM:301069
Developmental And Epileptic Encephalopathy 101
Seizure, Opisthotonus, Myoclonus OMIM:619814
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Aplasia/Hypoplasia of the vertebrae, Retinal dystrophy, Scoliosis, Peripheral reti... ORPHA:168549
Wieacker-Wolff Syndrome, Female-Restricted
Inability to walk, Oculomotor apraxia, Spasticity, Scoliosis, Facial palsy, Kyphosis, Ptosis, Sho... OMIM:301041
Hyperekplexia 1
Hypertonia, Nocturnal seizures, Seizure, Frequent falls, Exaggerated startle response, Myoclonus OMIM:149400
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Generalized myoclonic seizure, Inability to walk, Focal motor seizure, Kyphosis, ... ORPHA:3063
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Highly arched eyebrow, Dandy-Walker malformation, Scoliosis, Ptosi... ORPHA:2319
Toxin-Mediated Infectious Botulism
Paralysis, Ptosis, Diaphragmatic paralysis, Cerebral palsy ORPHA:230800
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Ptosis, Facial palsy, Fatigable weakness OMIM:616313
Spinocerebellar Ataxia-Dysmorphism Syndrome
Optic atrophy, Spina bifida occulta, Ptosis, Epicanthus, Aplasia/Hypoplasia of the cerebellum ORPHA:1185
Immunodeficiency 23
Cortical myoclonus, Scoliosis, Ataxia, Myoclonus, Somatic sensory dysfunction OMIM:615816
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ptosis, Palpebral edema, Abnormality of retinal pigmentation ORPHA:1259
Myopathic Ehlers-Danlos Syndrome
Tip-toe gait, Kyphoscoliosis, Scoliosis, Hyperlordosis, Kyphosis, Failure to thrive ORPHA:536516
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Seizure, Scoliosis, Cerebellar atrophy, Ptosis, Downslanted palpebral fissures, Epicanthus, Upsla... OMIM:618659
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus OMIM:619989
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis, Weight loss OMIM:188580
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hypertonia, Hyperkinetic movements, Seizure, Gait disturbance, Lethargy OMIM:236270
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy, Fatigable weakness OMIM:608931
Deafness, X-Linked 7
Ptosis, Thick eyebrow, Telecanthus OMIM:301018
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ptosis, Prolonged miniature endplate currents, Fatigable weakness OMIM:601462
Developmental And Epileptic Encephalopathy 89
Epileptic spasm, Hypertonia, Hyperkinetic movements, Highly arched eyebrow, Tetraparesis, Spastic... OMIM:619124
Arachnoid Cyst
Distal sensory impairment, Inability to walk, Seizure, Facial palsy, Sciatica, Gait disturbance, ... ORPHA:2356
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Abnormal autonomic nervous system physiology, Myoclonus ORPHA:168593
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Conjunctival hamartoma ORPHA:312
Rhyns Syndrome
Ptosis, Rod-cone dystrophy ORPHA:140976
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ptosis OMIM:617070
Alg1-Cdg
Scoliosis, Seizure, Cerebellar atrophy, Kyphosis ORPHA:79327
Melas
Optic atrophy, Focal-onset seizure, Seizure, Gait disturbance, Bilateral tonic-clonic seizure, He... ORPHA:550
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Hyperekplexia 3
Hypertonia, Bilateral tonic-clonic seizure, Exaggerated startle response, Myoclonus OMIM:614618
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spondyloepiphyseal Dysplasia Congenita
Retinal detachment, Vitreoretinopathy, Scoliosis, Waddling gait, Kyphosis, Atlantoaxial instabili... OMIM:183900
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Amyotrophy, Hereditary Neuralgic
Ptosis, Brachial plexus neuropathy, Epicanthus, Upslanted palpebral fissure, Blepharophimosis OMIM:162100
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis, Slender build OMIM:300676
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Oculopharyngodistal Myopathy 2
Ptosis OMIM:618940
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Difficulty walking, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Scoliosis, Cerebel... ORPHA:502423
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Hypertonia, Focal myoclonic seizure, Scoliosis, Cerebellar atrophy,... OMIM:203700
Li-Campeau Syndrome
Ptosis, Downslanted palpebral fissures, Thick eyebrow, Telecanthus OMIM:619189
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Spinocerebellar Ataxia Type 7
Cerebral atrophy, Babinski sign, Abnormal fundus morphology, Macular degeneration, Dysdiadochokin... ORPHA:94147
47,Xyy Syndrome
Congenital stationary night blindness, Male infertility, Dysgenesis of the cerebellar vermis, Azo... ORPHA:8
Wilson Disease
Difficulty walking, Increased body weight, Back pain, Failure to thrive, Weight loss, Clumsiness ORPHA:905
Congenital Myopathy 22A, Classic
Bilateral ptosis, Spinal rigidity, Scoliosis, Waddling gait, Frequent falls, Synophrys, Kyphosis,... OMIM:620351
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Hypertonia, Fasciculations, Fatigable weakness of skeletal muscles, Spasticity, Se... ORPHA:284339
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Moynahan Syndrome
Cachexia ORPHA:2574
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:94080
Whipple Disease
Erectile dysfunction, Seizure, Ataxia, Myoclonus, Abnormal pyramidal sign ORPHA:3452
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus, Upslanted palpebral fissure, Blepharophimosis, Ocular albinism ORPHA:1352
Coffin-Lowry Syndrome
Optic atrophy, Hypertonia, Abnormal form of the vertebral bodies, Seizure, Progressive spasticity... ORPHA:192
Neuroblastoma
Antalgic gait, Ataxia, Horner syndrome, Myoclonus ORPHA:635
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ptosis ORPHA:83619
Myopathy, Centronuclear, 1
Ptosis, Hyperlordosis OMIM:160150
Arthrogryposis, Distal, Type 12
Spinal rigidity, Scoliosis, Thoracic kyphosis, Ptosis, Acroparesthesia, Hypoesthesia OMIM:620545
Paternal Uniparental Disomy Of Chromosome 1
Macular dystrophy, Abnormal retinal morphology on macular OCT, Seizure, Pain insensitivity, Myocl... ORPHA:251004
Urban-Rogers-Meyer Syndrome
Kyphosis, Obesity, Epicanthus, Short neck, Upslanted palpebral fissure ORPHA:3409
15Q24 Microdeletion Syndrome
Broad eyebrow, Scoliosis, Kyphosis, Failure to thrive, Downslanted palpebral fissures, Obesity, E... ORPHA:94065
Joubert Syndrome 5
Oculomotor apraxia, Retinal coloboma, Ptosis, Ataxia, Agenesis of cerebellar vermis, Thickened su... OMIM:610188
Spondylometaphyseal Dysplasia, Kozlowski Type
Difficulty walking, Abnormality of the vertebral column, Vertebral wedging, Increased interverteb... ORPHA:93314
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Paresthesia, Myoclonic spasms ORPHA:94090
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis ORPHA:330054
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Farber Disease
Macular degeneration, Spasticity, Seizure, Infantile spasms, Paraparesis, Cherry red spot of the ... ORPHA:333
Marbach-Schaaf Neurodevelopmental Syndrome
Short palpebral fissure, Torticollis, Tremor, Speech apraxia, Obesity, Epicanthus, Hemidystonia, ... OMIM:619680
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphos... ORPHA:2635
Fetal Trimethadione Syndrome
Ptosis, Scoliosis, Epicanthus, Synophrys ORPHA:1913
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Distal sensory impairment, Kyphosis OMIM:151800
Dworschak-Punetha Neurodevelopmental Syndrome
Optic disc hypoplasia, Seizure, Sparse lateral eyebrow, Ptosis, Short neck OMIM:619955
9Q21.13 Microdeletion Syndrome
Difficulty walking, Scoliosis, Vertebral segmentation defect, Long palpebral fissure, Ptosis ORPHA:531151
Kury-Isidor Syndrome
Sacral dimple, Seizure, Scoliosis, Ptosis, Downslanted palpebral fissures, Exudative vitreoretino... OMIM:619762
Kinsship Syndrome
Generalized non-motor (absence) seizure, Short palpebral fissure, Focal-onset seizure, Sacral dim... OMIM:619297
Abetalipoproteinemia
Kyphoscoliosis, Babinski sign, Impaired proprioception, Steppage gait, Broad-based gait, Impaired... ORPHA:14
Presynaptic Congenital Myasthenic Syndromes
Tip-toe gait, Kyphoscoliosis, Spinal rigidity, Difficulty walking, Fatigable weakness, Frontalis ... ORPHA:98914
Congenital Myasthenic Syndrome
Tip-toe gait, Kyphoscoliosis, Spinal rigidity, Difficulty walking, Fatigable weakness, Frontalis ... ORPHA:590
Leigh Syndrome
Optic atrophy, Hyperkinetic movements, Abnormality of extrapyramidal motor function, Chorea, Spas... ORPHA:506
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Large for gestational age, Scoliosis, Hyperlordosis, Cerebellar atrophy, Kyphosis, Gait ataxia, D... OMIM:617011
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Spasticity, Seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Myoc... OMIM:618426
Kearns-Sayre Syndrome
Ptosis, Seizure, Ataxia, Pigmentary retinopathy OMIM:530000
Noonan Syndrome 8
Large for gestational age, Ptosis, Downslanted palpebral fissures, Failure to thrive, Epicanthus,... OMIM:615355
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Ptosis ORPHA:1154
Kallmann Syndrome
Erectile dysfunction, Paraplegia, Seizure, Tremor, Dyspareunia, Gait disturbance, Ptosis, Ataxia,... ORPHA:478
Brain-Lung-Thyroid Syndrome
Apraxia, Falls, Chorea, Incoordination, Intention tremor, Involuntary movements, Ataxia, Myoclonu... ORPHA:209905
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Spinal rigidity, Scoliosis, Hyperlordosis, Waddling gait, Gait disturbance, Kyphosi... ORPHA:98855
Primary Ciliary Dyskinesia
Male infertility, Rod-cone dystrophy, Female infertility, Abnormal sperm motility ORPHA:244
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Hypopigmentation of the fundus, Kyphosis, Abnormal optic nerve morphology ORPHA:77300
Myasthenic Syndrome, Congenital, 24, Presynaptic
Ptosis, Oculomotor apraxia OMIM:618198
Marden-Walker Syndrome
Inferior cerebellar vermis hypoplasia, Dandy-Walker malformation, Seizure, Scoliosis, Kyphosis, P... OMIM:248700
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Ptosis, Spinal rigidity OMIM:608423
Trisomy 13
Optic atrophy, Abnormal eyelash morphology, Seizure, Scoliosis, Kyphosis, Abnormal retinal vascul... ORPHA:3378
3Mc Syndrome
Caudal appendage, Telecanthus, Spina bifida occulta, Highly arched eyebrow, Scoliosis, Hyperlordo... ORPHA:293843
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Telecanthus, Spina bifida occulta, Scoliosis, Cerebellar atrophy, Ptosis, Failure... OMIM:193700
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Chromosome 5Q12 Deletion Syndrome
Sacral dimple, Decreased body mass index, Long palpebral fissure, Ptosis, Epicanthus, Short neck OMIM:615668
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Seizure, Scoliosis, Gait disturbance, Synophrys, Ptosis, Downslanted palpebral fissures, Sparse e... OMIM:620098
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ptosis, Failure to thrive OMIM:613561
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Niemann-Pick Disease Type C
Focal-onset seizure, Lower limb spasticity, Chorea, Cerebellar vermis atrophy, Tremor, Cataplexy,... ORPHA:646
Fazio-Londe Disease
Ptosis OMIM:211500
Bruck Syndrome 1
Pterygium, Vertebral wedging, Scoliosis, Kyphosis, Platyspondyly OMIM:259450
Eosinophilic Fasciitis
Weight loss, Paresthesia ORPHA:3165
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ptosis ORPHA:663
Bruck Syndrome
Platyspondyly, Scoliosis, Kyphosis, Pterygium ORPHA:2771
Spondyloepiphyseal Dysplasia Congenita
Spinal rigidity, Retinal detachment, Cervical instability, Scoliosis, Waddling gait, Abnormally o... ORPHA:94068
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Seizure, Lethargy, Myoclonus OMIM:614922
Combined Oxidative Phosphorylation Deficiency 14
Seizure, Myoclonic seizure, Cerebellar atrophy, Myoclonus OMIM:614946
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Ptosis, Short neck, Cervical C2/C3 vertebral fusion OMIM:616549
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Telecanthus, Highly arched eyebrow, Absent eyelashes, Ptosis, Absent lacrimal punctum, Thick eyebrow ORPHA:228396
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Apraxia, Gait disturbance... OMIM:254780
Ullrich Congenital Muscular Dystrophy 1A
Spinal rigidity, Torticollis, Scoliosis, Kyphosis, Failure to thrive, Slender build OMIM:254090
Metatropic Dysplasia
Kyphoscoliosis, Caudal appendage, Relatively short spine, Scoliosis, Long coccyx, Kyphosis, Aniso... OMIM:156530
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral ptosis, Broad-based gait, Bilateral tonic-clonic seizure, Synophrys, Epicanthus, Upslan... OMIM:616351
Myasthenic Syndrome, Congenital, 20, Presynaptic
Fatigable weakness, Scoliosis, Facial palsy, Kyphosis, Ptosis OMIM:617143
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Peripheral Primitive Neuroectodermal Tumor
Abnormal superior cerebellar peduncle morphology, Torticollis, Abnormal thoracic spine morphology... ORPHA:370348
Infantile Sialic Acid Storage Disease
Ptosis, Failure to thrive, Epicanthus OMIM:269920
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Gait disturbance, Telecanthus ORPHA:2774
Foxg1 Syndrome Due To 14Q12 Microdeletion
Palpebral edema, Scoliosis, Kyphosis, Downslanted palpebral fissures, Epicanthus, Blepharophimosis ORPHA:261144
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Difficulty walking, Blepharospasm, Upper motor neuron dy... ORPHA:306674
Oculopharyngodistal Myopathy 1
Bilateral ptosis, Difficulty walking, Tremor, Ptosis, Ataxia, Weight loss OMIM:164310
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Terminal Osseous Dysplasia
Ptosis, Upslanted palpebral fissure, Telecanthus, Epicanthus OMIM:300244
Sifrim-Hitz-Weiss Syndrome
Short palpebral fissure, Fused cervical vertebrae, Gait imbalance, Ptosis, Epicanthus, Chiari mal... OMIM:617159
Ring Chromosome 10 Syndrome
Short neck, Downslanted palpebral fissures, Cachexia ORPHA:1438
Fountain Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Synophrys, Ptos... ORPHA:3219
Aredyld Syndrome
Cachexia, Scoliosis, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Stickler Syndrome, Type Vi
Ptosis, Downslanted palpebral fissures OMIM:620022
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Telecanthus, Pterygium, Spina bifida ... ORPHA:2990
12Q14 Microdeletion Syndrome
Scoliosis, Tremor, Synophrys, Failure to thrive, Thick eyebrow, Chiari malformation ORPHA:94063
Myopathy, Myofibrillar, 8
Scoliosis, Ptosis, Spinal rigidity, Frequent falls OMIM:617258
Serotonin Syndrome
Hypertonia, Seizure, Tremor, Abnormality of the autonomic nervous system, Clonus, Rigidity, Myocl... ORPHA:43116
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Myoclonic spasms, Conjunctivitis, Short neck, Paresthesia ORPHA:94089
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Monosomy 18P
Kyphoscoliosis, Ptosis, Epicanthus, Generalized dystonia, Short neck ORPHA:1598
Crisponi Syndrome
Scoliosis, Hypertonia, Kyphosis ORPHA:1545
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Renpenning Syndrome
Cachexia, Upslanted palpebral fissure, Epicanthus, Thin eyebrow ORPHA:3242
Unilateral Polymicrogyria
Focal-onset seizure, Generalized tonic seizure, Poor fine motor coordination, Seizure, Infantile ... ORPHA:268943
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyp... OMIM:313400
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kyphosis, Ptosis, Downslanted pa... ORPHA:2789
Coffin-Siris Syndrome 2
Dandy-Walker malformation, Seizure, Long eyelashes, Ptosis, Thick eyebrow, Cerebellar hypoplasia OMIM:614607
Intellectual Developmental Disorder, Autosomal Dominant 42
Generalized non-motor (absence) seizure, Focal-onset seizure, Inability to walk, Limb hypertonia,... OMIM:616973
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Stickler Syndrome, Type I
Beaking of vertebral bodies, Spondylolisthesis, Retinal detachment, Membranous vitreous appearanc... OMIM:108300
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Seizure, Long palpebral fissure, Ptosis, Chorioretinal coloboma, Epicanthu... OMIM:243310
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Retinal dystrophy, Seizure, Kyphosis, Rod-cone dystrophy ORPHA:261222
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphoscoliosis, Large for gestational age, Difficulty walking, Broad eyebrow, Kyphosis, Shallow o... ORPHA:457359
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Inferior cerebellar vermis hypoplasia, Limb hypertonia, Fasciculations, Tremor, Cerebellar atroph... OMIM:620327
Trisomy 20P
Abnormal form of the vertebral bodies, Highly arched eyebrow, Incoordination, Scoliosis, Vertebra... ORPHA:261318
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Scoliosis, Hyperlordosis, Waddling gait, K... OMIM:253000
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Ptosis, Scoliosis, Hyperlordosis ORPHA:2511
Emanuel Syndrome
Kyphoscoliosis, Sacral dimple, Hooded eyelid, Dandy-Walker malformation, Seizure, Infertility, Sc... ORPHA:96170
Hyperekplexia 2
Hypertonia, Exaggerated startle response, Myoclonus OMIM:614619
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bilateral ptosis, Highly arched eyebrow, Seizure, Scoliosis, Kyphosis, Downslanted palpebral fiss... ORPHA:404440
Intellectual Developmental Disorder, Autosomal Dominant 57
Tip-toe gait, Telecanthus, Scoliosis, Kyphosis, Ptosis, Failure to thrive, Epicanthus, Upslanted ... OMIM:618050
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Spastic paraplegia, Ptosis, Spasticity, Lower limb spasticity ORPHA:2824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Cerebellar cyst, Retinal dysplasia, Spasticity, Retinal atrophy, Seizure, Cerebell... OMIM:253280
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Ptosis, Cachexia, Hemiplegia ORPHA:3217
Noonan Syndrome 11
Ptosis, Downslanted palpebral fissures OMIM:618499
Xia-Gibbs Syndrome
Retrocerebellar cyst, Ptosis, Downslanted palpebral fissures, Failure to thrive, Upslanted palpeb... OMIM:615829
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Myoclonic spasms, Paresthesia, Conjunctivitis ORPHA:36913
Frank-Ter Haar Syndrome
Scoliosis, Downslanted palpebral fissures, Kyphosis, Beaking of vertebral bodies ORPHA:137834
Synaptic Congenital Myasthenic Syndromes
Bilateral ptosis, Abnormal synaptic transmission at the neuromuscular junction, Scoliosis, Facial... ORPHA:98915
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypertonia, Focal-onset seizure, Seizure, Infantile spasms, Myoclonus, Exaggerated startle respon... OMIM:620423
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Cervical spinal canal stenosis, Multiple pterygia, Spondylolisthesis, Scolio... OMIM:178110
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Truncal ataxia, Seizure, Ptosis, Ataxia, Pigmentary retinopathy OMIM:220110
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Ptosis, Levator palpebrae superioris atrophy, Congenital fibrosis of extraocular muscles, Superio... OMIM:600638
Perlman Syndrome
Status epilepticus, Ptosis, Seizure, Epicanthus ORPHA:2849
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Frias Syndrome
Ptosis, Downslanted palpebral fissures OMIM:609640
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Meningioma
Difficulty walking, Focal-onset seizure, Seizure, Facial palsy, Hemifacial spasm, Impotence, Abno... ORPHA:2495
Cerebral Creatine Deficiency Syndrome 1
Hypertonia, Broad-based gait, Spasticity, Gait disturbance, Speech apraxia, Ptosis, Poor hand-eye... OMIM:300352
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Ptosis, Hypergonadotropic hypogonadism ORPHA:2229
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Spasticity, Tremor, Spastic paraplegia, Ataxia, Dysmetria OMIM:618527
Craniosynostosis 3
Ptosis OMIM:615314
Kniest Dysplasia
Bilateral ptosis, Fused cervical vertebrae, Retinal detachment, Vertebral wedging, Vitreoretinopa... ORPHA:485
Hypotonia-Cystinuria Syndrome
Seizure, Facial palsy, Hypergonadotropic hypogonadism, Long eyelashes, Ptosis OMIM:606407
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral ptosis, Large for gestational age, Sacral dimple, Absent eyelashes, Spasticity, Absent ... ORPHA:544488
Noonan Syndrome 5
Large for gestational age, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Sh... OMIM:611553
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Hartsfield Syndrome
Ptosis, Downslanted palpebral fissures, Telecanthus ORPHA:2117
Intellectual Developmental Disorder, Autosomal Recessive 65
Ptosis, Downslanted palpebral fissures, Unsteady gait, Gait ataxia OMIM:618109
Baraitser-Winter Cerebrofrontofacial Syndrome
Palpebral edema, Telecanthus, Highly arched eyebrow, Euryblepharon, Seizure, Scoliosis, Retinosch... ORPHA:2995
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Hypertonia, Resting tremor, Abnormality of extrapyramidal motor function, Seizure, ... ORPHA:254892
Fucosidosis
Anterior beaking of lumbar vertebrae, Spasticity, Kyphosis, Failure to thrive, Abnormal pyramidal... ORPHA:349
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Ptosis, Upslanted palpebral fissure, Bilateral tonic-clonic seizure, Synophrys OMIM:616083
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Downslanted palpebral fissures, Ataxia, Epicanthus ORPHA:2479
Wars2-Related Combined Oxidative Phosphorylation Defect
Difficulty walking, Limb hypertonia, Cerebellar vermis hypoplasia, Tremor, Athetosis, Cerebellar ... ORPHA:572798
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Bone Dysplasia, Lethal Holmgren Type
Short neck, Failure to thrive, Weight loss ORPHA:1842
Noonan Syndrome 4
Bilateral ptosis, Large for gestational age, Scoliosis, Ptosis, Downslanted palpebral fissures, S... OMIM:610733
Waardenburg Syndrome Type 1
Telecanthus, Scoliosis, Synophrys, Ptosis, Thick eyebrow, White eyelashes, White eyebrow ORPHA:894
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Scoliosis, Waddling gait, Kyphosis, Atlantoaxial instability, Hypopl... OMIM:607326
Pleural Mesothelioma
Weight loss ORPHA:50251
Focal Myositis
Weight loss ORPHA:48918
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Sacral dimple, Kyphosis OMIM:618272
Follicular Lymphoma
Weight loss ORPHA:545
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait OMIM:168600
Cleft Palate-Large Ears-Small Head Syndrome
Ptosis ORPHA:2013
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Ptosis, Thick eyebrow, Blepharophimosis, Synophrys OMIM:210745
Congenital Myopathy 5 With Cardiomyopathy
Ptosis, Scoliosis OMIM:611705
Aarskog-Scott Syndrome
Ptosis, Downslanted palpebral fissures, Epicanthus, Short neck, Abnormality of the cervical spine... ORPHA:915
Cono-Spondylar Dysplasia
Scoliosis, Kyphosis, Failure to thrive, Poor coordination, Short neck ORPHA:420794
3C Syndrome
Optic atrophy, Dandy-Walker malformation, Scoliosis, Hemivertebrae, Kyphosis, Downslanted palpebr... ORPHA:7
Distal Duplication 6P
Sacral dimple, Abnormal eyelash morphology, Ptosis, Short neck, Blepharophimosis ORPHA:1745
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Ptosis, Short neck OMIM:609654
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Ataxia ORPHA:42
Wild Type Attr Amyloidosis
Impaired vibratory sensation, Spinal canal stenosis, Weight loss ORPHA:330001
Neurofibromatosis-Noonan Syndrome
Ptosis, Downslanted palpebral fissures ORPHA:638
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Generalized non-motor (absence) seizure, Short palpebral fissure, Telecanthus, Spina bifida occul... OMIM:617360
Aicardi-Goutieres Syndrome 9
Hypertonia, Spasticity, Scoliosis, Spastic tetraparesis, Lower limb hypertonia, Failure to thrive... OMIM:619487
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis, Ptosis, Downslanted palpebral fissures ORPHA:3121
Atelis Syndrome 2
Short palpebral fissure, Sacral dimple, Seizure, Remnants of the hyaloid vascular system, Kyphosi... OMIM:620185
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Seizure, Myoclonus OMIM:614462
Prolactinoma
Male hypogonadism, Erectile dysfunction, Seizure, Decreased fertility in males, Dyspareunia, Impo... ORPHA:2965
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ptosis, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Frontofacionasal Dysplasia
Upper eyelid coloboma, Telecanthus, Limbal dermoid, Ptosis, Aplasia/Hypoplasia of the eyebrow, Ab... ORPHA:1791
Codas Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Ptosis, Coronal cleft vertebrae, Epicanthus ORPHA:1458
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Spermatogenic Failure 77
Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia OMIM:620103
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Noonan Syndrome 9
Ptosis, Downslanted palpebral fissures, Short neck, Sparse eyebrow OMIM:616559
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Seizure, Scoliosis, Clonus, Myoclonus, Spastic tetraplegia, Status epilepticus OMIM:619055
Rett Syndrome, Congenital Variant
Apraxia, Chorea, Spasticity, Athetosis, Scoliosis, Kyphosis, Dystonia OMIM:613454
Mast Cell Sarcoma
Weight loss ORPHA:66661
Reni Syndrome
Ptosis, Seizure, Ataxia, Hypogonadism OMIM:617575
3-Hydroxy-3-Methylglutaric Aciduria
Spastic hemiparesis, Seizure, Spasticity, Ataxia, Myoclonus, Lethargy ORPHA:20
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Mucopolysaccharidosis, Type Ivb
Scoliosis, Hyperlordosis, Kyphosis, Ovoid vertebral bodies, Ataxia, Hypoplasia of the odontoid pr... OMIM:253010
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Seizure, Ptosis, Downslanted palpebral fissures, Blepharophimosis OMIM:617333
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Kyphosis, Hypoplastic vertebral ... ORPHA:2916
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Small for gestational age, Weight loss ORPHA:424
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Spina bifida occulta, Cerebellar vermis hypoplasia, Scoliosis, Kyphosis, Cerebella... OMIM:618291
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Weight loss ORPHA:142
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Optic atrophy, Ptosis, Seizure, Broad-based gait OMIM:609037
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Ptosis OMIM:619465
Erdheim-Chester Disease
Xanthelasma, Abnormal cerebellum morphology, Ptosis, Ataxia, Weight loss ORPHA:35687
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Long palpebral fissure, Ptosis, Kyphosis, Thoracic scoliosis OMIM:603387
Noonan Syndrome 13
Broad eyebrow, Highly arched eyebrow, Infantile spasms, Generalized-onset seizure, Scoliosis, Alm... OMIM:619087
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Ptosis, Scoliosis, Hyperlordosis, Vertebral segmentation defect ORPHA:1323
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Facial palsy, Ptosis, Downslanted palpebral fissures, Hypogonadotropic hypogonadism ORPHA:3068
Multiple Pterygium Syndrome, Escobar Variant
Anterior clefting of vertebral bodies, Bilateral ptosis, Axillary pterygium, Popliteal pterygium,... OMIM:265000
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Oculomotor apraxia, Elongated superior cerebellar peduncle, Seizure... OMIM:615636
19P13.12 Microdeletion Syndrome
Scoliosis, Kyphosis, Synophrys, Obesity, Epicanthus, Short neck, Aplasia/Hypoplasia of the cerebe... ORPHA:254346
Thanatophoric Dysplasia
Seizure, Kyphosis, Downslanted palpebral fissures, Abnormal sacroiliac joint morphology, Platyspo... ORPHA:2655
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Kyphosis, Synophrys, Hypogonadism, Short neck ORPHA:2983
Waardenburg Syndrome Type 2
Ptosis, Telecanthus ORPHA:895
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Hyperkinetic movements, Athetoid cerebral palsy, Chorea, Scoliosis, Almond-shaped ... ORPHA:522077
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Intellectual Developmental Disorder, Autosomal Dominant 73
Highly arched eyebrow, Hyperlordosis, Kyphosis, Tip-toe gait, Axillary pterygium, Cerebellar verm... OMIM:620450
Arthrogryposis, Distal, Type 4
Lumbar scoliosis, Scoliosis, Torticollis, Kyphosis OMIM:609128
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Hypertonia, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Abnormal eye... ORPHA:2526
Mitochondrial Complex I Deficiency, Nuclear Type 1
Babinski sign, Tongue fasciculations, Spasticity, Cerebellar atrophy, Optic neuropathy, Bilateral... OMIM:252010
Trisomy 9P
Sacral dimple, Scoliosis, Kyphosis, Downslanted palpebral fissures, Short neck ORPHA:236
Congenital Myopathy 1B, Autosomal Recessive
Ptosis, Scoliosis, Facial palsy OMIM:255320
Pgm3-Cdg
Cortical myoclonus, Seizure, Ataxia, Myoclonus, Narrow palpebral fissure ORPHA:443811
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Ptosis, Blepharophimosis, Epicanthus ORPHA:3236
Emanuel Syndrome
Sacral dimple, Torticollis, Dandy-Walker malformation, Scoliosis, Kyphosis, Failure to thrive, Up... OMIM:609029
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Seizure, Infertility, Scoliosis, Kyphosis, Almond-shaped palpebra... ORPHA:398069
Iatrogenic Botulism
Ptosis, Diaphragmatic paralysis, Cerebral palsy ORPHA:254509
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Hypertonia, Seizure, Scoliosis, Kyphosis, Hypoplastic vertebral bodi... OMIM:230500
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Scoliosis, Synophrys, Ptosis, Failure to thrive, Ataxia, Epicanthus invers... OMIM:617062
Neurodegeneration With Brain Iron Accumulation 1
Bradykinesia, Babinski sign, Akinesia, Abnormality of extrapyramidal motor function, Spasticity, ... OMIM:234200
Cockayne Syndrome
Retinal atrophy, Cerebellar atrophy, Kyphosis, Action tremor, Cerebellar dentate nucleus calcific... ORPHA:191
Cohen Syndrome
Optic atrophy, Abnormal eyelid morphology, Abnormal eyelash morphology, Seizure, Scoliosis, Kypho... ORPHA:193
Nmda Receptor Encephalitis
Orthostatic tachycardia, Focal-onset seizure, Orthostatic hypotension, Abnormal sudomotor regulat... ORPHA:217253
Pfapa Syndrome
Weight loss ORPHA:42642
Tick-Borne Encephalitis
Fatigable weakness of respiratory muscles, Hyperkinetic movements, Abnormal glossopharyngeal nerv... ORPHA:297
Wound Botulism
Ptosis, Diaphragmatic paralysis, Cerebral palsy ORPHA:178475
Arthrogryposis, Distal, Type 5D
Highly arched eyebrow, Scoliosis, Hyperlordosis, Ptosis, Lagophthalmos, Short neck OMIM:615065
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Ptosis, Scoliosis, Kyphosis ORPHA:1969
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Scoliosis, Abnormal vertebral morphology, Weight loss, Abnormal sacroiliac joint morphology ORPHA:324964
Chromosome 17P13.1 Deletion Syndrome
Sacral dimple, Telecanthus, Highly arched eyebrow, Scoliosis, Synophrys, Ptosis, Downslanted palp... OMIM:613776
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypertonia, Severe failure to thrive, Downslanted palpebral fissures, Unilateral ptosis, Opisthot... ORPHA:3304
Congenital Disorder Of Glycosylation, Type Iio
Seizure, Ptosis, Downslanted palpebral fissures OMIM:616828
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Seizure, Ptosis, Hemiplegia/hemiparesis, Eyelid coloboma, Cerebellar h... ORPHA:1647
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Cerebellar cortical atrophy, Limb hypertonia, Abnormality of extrapyramidal motor ... ORPHA:521426
Isolated Permanent Neonatal Diabetes Mellitus
Bilateral ptosis, Apraxia, Failure to thrive, Ataxia, Weight loss ORPHA:99885
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertonia, Hyperkinetic movements, Seizure, Ptosis, Unsteady gait, Myoclonus, Choreoathetosis ORPHA:17
Juberg-Hayward Syndrome
Highly arched eyebrow, Ptosis OMIM:216100
Chromosome 18P Deletion Syndrome
Ptosis, Dystonia, Epicanthus, Short neck, Small for gestational age OMIM:146390
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Optic atrophy, Dandy-Walker malformation, Seizure, Ptosis, Epicanthus OMIM:220500
Wolf-Hirschhorn Syndrome
Optic atrophy, Sacral dimple, Abnormal vertebral morphology, Abnormality of the vertebral column,... ORPHA:280
Pelger-Huet Anomaly
Lower limb hypertonia, Failure to thrive, Kyphosis OMIM:169400
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Upslanted palpebral fissure, Kyphosis, Aplasia/Hypoplasia of the eyebrow ORPHA:3082
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cervical spinal canal stenosis, Distal sensory impairment, Scoliosis, Hyperlordosis, Ptosis, Spin... OMIM:616007
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Optic atrophy, Inability to walk, Seizure, Scoliosis, Kyphosis, Unsteady gait OMIM:618493
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Bilateral ptosis, Scoliosis, Kyphosis, Synophrys, Epicanthus OMIM:619557
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Hypertonia, Seizure, Ptosis, Chorioretinal coloboma, Blepharophimosis ORPHA:2031
Childhood Absence Epilepsy
Typical absence seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Febrile seizu... ORPHA:64280
Dermoodontodysplasia
Ptosis, Abnormal eyelid morphology ORPHA:1660
Galloway-Mowat Syndrome 1
Optic atrophy, Dandy-Walker malformation, Spasticity, Seizure, Cerebellar atrophy, Ptosis, Ataxia... OMIM:251300
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Hypertonia, Exaggerated startle response, Long eyelashes, Clonus, Ptosis OMIM:617301
Oculogastrointestinal Muscular Dystrophy
Ptosis, Cachexia ORPHA:1876
8P23.1 Microdeletion Syndrome
Downslanted palpebral fissures, Obesity, Weight loss, Epicanthus, Short neck, Upslanted palpebral... ORPHA:251071
Progressive Supranuclear Palsy
Bradykinesia, Falls, Tremor, Blepharospasm, Rigidity, Dystonia, Unsteady gait ORPHA:683
Hyperlysinemia
Tip-toe gait, Neck hypertonia, Tremor, Spastic tetraparesis, Poor motor coordination, Failure to ... ORPHA:2203
Teebi Hypertelorism Syndrome 2
Ptosis, Thick eyebrow, Upper eyelid coloboma OMIM:619736
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral tonic... OMIM:614231
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Congenital Disorder Of Glycosylation, Type Il
Short neck, Failure to thrive, Cerebellar atrophy, Kyphosis OMIM:608776
Giant Cell Arteritis
Ptosis, Ataxia, Weight loss, Paresthesia ORPHA:397
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal sensory impairment, Cachexia, Ptosis, Slender build, Weight loss, Hypoesthesia OMIM:603041
Kosaki Overgrowth Syndrome
Xanthelasma, Scoliosis, Ptosis, Downslanted palpebral fissures, Thoracolumbar scoliosis OMIM:616592
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital bilateral ptosis, Ptosis, Failure to thrive, Truncal obesity, Small for gestational age ORPHA:73272
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Scoliosis, Kyphosis, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:616449
Acrodermatitis Enteropathica
Abnormal eyelid morphology, Blepharitis, Abnormal eyebrow morphology, Failure to thrive, Weight l... ORPHA:37
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia, Scoliosis, Kyphosis ORPHA:79107
Foodborne Botulism
Paralysis, Ptosis, Diaphragmatic paralysis, Cerebral palsy ORPHA:228371
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Ptosis ORPHA:2868
Lateral Meningocele Syndrome
Chiari type I malformation, Telecanthus, Scoliosis, Kyphosis, Biconcave vertebral bodies, Ptosis,... OMIM:130720
3Mc Syndrome 2
Caudal appendage, Abnormal vertebral morphology, Torticollis, Abnormality of the vertebral column... OMIM:265050
Glucocorticoid Deficiency 2
Focal motor seizure, Myoclonic seizure, Spastic tetraparesis, Myoclonus OMIM:607398
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypertonia, Hyperkinetic movements, Abnormality of the orbital region, Optic nerve hypoplasia, Sp... ORPHA:468631
Beta-Ketothiolase Deficiency
Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss ORPHA:134
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Large for gestational age, Sacral dimple, Highly arched eyebrow, Sco... OMIM:213980
Progressive Non-Infectious Anterior Vertebral Fusion
Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Sc... ORPHA:2062
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Bilateral Perisylvian Polymicrogyria
Focal-onset seizure, Limb hypertonia, Oromotor apraxia, Lower limb spasticity, Cerebellar vermis ... ORPHA:98889
Mucopolysaccharidosis, Type Ii
Seizure, Kyphosis, Ptosis, Papilledema, Abnormality of retinal pigmentation, Short neck OMIM:309900
Choreoacanthocytosis
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Falls, Resting tremor, ... ORPHA:2388
Trisomy 17P
Hypertonia, Broad eyebrow, Scoliosis, Ptosis, Downslanted palpebral fissures, Short neck ORPHA:261290
Desbuquois Dysplasia 1
Scoliosis, Hyperlordosis, Waddling gait, Kyphosis, Obesity, Platyspondyly, Short neck OMIM:251450
Alternating Hemiplegia Of Childhood
Paroxysmal dyskinesia, Oculomotor apraxia, Chorea, Tremor, Failure to thrive, Rigidity, Dystonia,... ORPHA:2131
Microphthalmia/Coloboma 9
Retinal detachment, Ptosis, Narrow palpebral fissure, Macular coloboma OMIM:615145
Autosomal Dominant Hypocalcemia
Optic atrophy, Cortical myoclonus, Fatigable weakness, Paresthesia ORPHA:428
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Bilateral ptosis, Hypoplastic coccygeal vertebrae, Retinal dystrophy, Elongated su... OMIM:619512
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Irregular menstruation, Seizure, Retinal atro... OMIM:216400
Non-Functioning Pituitary Adenoma
Male hypogonadism, Erectile dysfunction, Seizure, Decreased fertility in males, Impotence, Female... ORPHA:91349
Gabriele-De Vries Syndrome
Tip-toe gait, Telecanthus, Tremor, Waddling gait, Epiblepharon, Ptosis, Downslanted palpebral fis... OMIM:617557
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Platyspondyly, Scoliosis, Kyphosis, Abnormal curvature of the vertebral column, T... ORPHA:93360
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Ptosis ORPHA:1067
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculomotor apraxia, Oculogyric crisis, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor... OMIM:612716
Cardiofaciocutaneous Syndrome 2
Ptosis, Absent eyebrow OMIM:615278
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Conjunctivitis ORPHA:47
Weaver Syndrome
Generalized non-motor (absence) seizure, Hypertonia, Poor fine motor coordination, Spasticity, Se... OMIM:277590
Ethylene Glycol Poisoning
Seizure, Facial palsy, Ataxia, Myoclonus, Slurred speech ORPHA:31826
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Ptosis OMIM:221320
Holoprosencephaly
Optic atrophy, Abnormal form of the vertebral bodies, Highly arched eyebrow, Chorea, Spasticity, ... ORPHA:2162
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Difficulty walking, Spasticity, Waddling gait, Ptosis OMIM:251900
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Highly arched eyebrow, Dandy-Walker malformation, Seizure, Scoliosis, Cerebellar a... ORPHA:487796
3M Syndrome
Increased vertebral height, Scoliosis, Hyperlordosis, Kyphosis, Thick eyebrow, Short neck, Decrea... ORPHA:2616
Microphthalmia, Lenz Type
Seizure, Hyperlordosis, Scoliosis, Kyphosis, Chorioretinal coloboma, Optic disc coloboma, Ankylob... ORPHA:568
Aarskog-Scott Syndrome
Scoliosis, Ptosis, Downslanted palpebral fissures, Hypoplasia of the odontoid process, Failure to... OMIM:305400
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Broad lateral eyebrow, Long eyelashes, Ptosis, Obesity, Epicanthus OMIM:608624
Arthrogryposis Multiplex Congenita 5
Kyphoscoliosis, Hypertonia, Akinesia, Scoliosis, Ptosis, Short neck, Hand tremor, Upslanted palpe... OMIM:618947
Cowden Syndrome 1
Angioid streaks of the fundus, Seizure, Scoliosis, Kyphosis, Intention tremor, Dysplastic ganglio... OMIM:158350
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Inability to walk, Seizur... OMIM:617799
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Isolated Complex I Deficiency
Optic neuropathy, Ptosis, Ataxia, Lethargy, Optic disc pallor ORPHA:2609
Borjeson-Forssman-Lehmann Syndrome
Seizure, Ptosis, Thick eyebrow, Hypogonadism, Blepharophimosis ORPHA:127
22Q11.2 Duplication Syndrome
Seizure, Scoliosis, Ptosis, Downslanted palpebral fissures, Epicanthus ORPHA:1727
Alpha-Mannosidosis
Short neck, Scoliosis, Kyphosis ORPHA:61
Distal Deletion 3P
Abnormal vestibulo-ocular reflex, Sacral dimple, Telecanthus, Spasticity, Ptosis, Epicanthus, Sho... ORPHA:1620
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Bickerstaff Brainstem Encephalitis
Babinski sign, Impaired proprioception, Abnormal cranial nerve morphology, Tetraplegia, Dysesthes... ORPHA:79138
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Scoliosis, Kyphosis, Ptosis, Failure to thrive, Epicanthus, Sma... OMIM:610443
2Q31.1 Microdeletion Syndrome
Short palpebral fissure, Seizure, Scoliosis, Vertebral segmentation defect, Kyphosis, Synophrys, ... ORPHA:251014
Familial Colorectal Cancer Type X
Hypertonia, Gait disturbance, Hemiplegia/hemiparesis, Weight loss, Abnormal pyramidal sign, Pares... ORPHA:440437
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Kyphosis, Gait disturbance, Spinal canal stenosis, Platyspondyly, Short... ORPHA:582
Carey-Fineman-Ziter Syndrome
Scoliosis, Facial palsy, Ptosis, Downslanted palpebral fissures, Epicanthus, Aplasia/Hypoplasia o... ORPHA:1358
Schwartz-Jampel Syndrome
Hypertonia, Spinal rigidity, Cachexia, Scoliosis, Hyperlordosis, Blepharospasm, Abnormally ossifi... ORPHA:800
Scorpion Envenomation
Hyperkinetic movements, Seizure, Tremor, Hemifacial spasm, Ataxia, Priapism, Myoclonus, Paresthesia ORPHA:466677
Ehlers-Danlos Syndrome, Classic-Like, 2
Bilateral ptosis, Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Ptosis, Thin eyebrow, T... OMIM:618000
Auriculocondylar Syndrome 2A
Ptosis OMIM:614669
Keipert Syndrome
Ptosis, Epicanthus ORPHA:2662
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Myoclonic spasms, Involuntary movements, Oligomenorrhea, Hypergonadotropic... ORPHA:79443
Saethre-Chotzen Syndrome
Optic atrophy, Abnormal form of the vertebral bodies, Seizure, Hyperlordosis, Blepharospasm, Scol... ORPHA:794
Triosephosphate Isomerase Deficiency
Spasticity, Tremor, Kyphosis, Failure to thrive, Dystonia, Unsteady gait OMIM:615512
Listeriosis
Seizure, Tremor, Conjunctivitis, Hemiparesis, Back pain, Ataxia, Myoclonus, Somatic sensory dysfu... ORPHA:533
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3098
Monosomy 9Q22.3
Abnormality of the vertebral column, Seizure, Kyphosis, Retinopathy, Downslanted palpebral fissur... ORPHA:77301
Achondroplasia
Cervical spinal canal stenosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis,... ORPHA:15
Miller Fisher Syndrome
Facial palsy, Ptosis, Ataxia, Tetraparesis, Paresthesia ORPHA:98919
Diastrophic Dysplasia
Scoliosis, Hypoplastic cervical vertebrae, Kyphosis, Abnormal form of the vertebral bodies ORPHA:628
Koolen-De Vries Syndrome
Seizure, Scoliosis, Vertebral segmentation defect, Kyphosis, Ptosis, Epicanthus, Upslanted palpeb... ORPHA:96169
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Spastic tetraparesis, Ptosis, Failure to thrive, Dystonia OMIM:614924
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Babinski sign, Hypertonia, Abnormality of extrapyramidal motor function, Seizure, ... OMIM:617527
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Ptosis, Tremor, Clonus OMIM:619424
Paroxysmal Hemicrania
Ptosis, Palpebral edema, Conjunctival hyperemia ORPHA:157835
Rubinstein-Taybi Syndrome
Telecanthus, Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Epicanthus, Failure t... ORPHA:783
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Ptosis, Downslanted palpebral fissures, Telecanthus, Epicanthus ORPHA:1778
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short palpebral fissure, Sparse eyelashes, Ptosis, Sparse eyebrow, Long palpebral fissure, Failur... OMIM:613026
Pseudoachondroplasia
Beaking of vertebral bodies, Scoliosis, Waddling gait, Kyphosis, Hypoplasia of the odontoid proce... OMIM:177170
Amyotrophic Lateral Sclerosis
Babinski sign, Fasciculations, Cachexia, Spasticity, Paralysis ORPHA:803
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Myoclonic spasms, Hypergonadotropic hypogonadism, Oligomenorrhea, Conjunct... ORPHA:79444
Immunodeficiency 27A
Weight loss OMIM:209950
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Opsoclonus-Myoclonus Syndrome
Limb myoclonus, Rigidity, Ataxia, Myoclonus ORPHA:1183
Phelan-Mcdermid Syndrome
Palpebral edema, Sacral dimple, Broad-based gait, Impaired pain sensation, Seizure, Long eyelashe... OMIM:606232
Pde4D Haploinsufficiency Syndrome
Caudal interpedicular narrowing, Long palpebral fissure, Ptosis, Obesity, Irregular vertebral end... ORPHA:439822
Yao Syndrome
Weight loss, Keratoconjunctivitis sicca OMIM:617321
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Kyphoscoliosis, Vertebral compression fracture, Broad-based gait, Seizure, Scoliosis, Synophrys, ... OMIM:309583
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Short palpebral fissure, Highly arched eyebrow, Impaired pain sensation, Scoliosis, Decreased bod... OMIM:619005
Graves Disease
Weight loss OMIM:275000
Cowden Syndrome 5
Angioid streaks of the fundus, Scoliosis, Seizure, Kyphosis, Intention tremor OMIM:615108
Thrombocytopenia, Paris-Trousseau Type
Ptosis OMIM:188025
Muenke Syndrome
Seizure, Ptosis, Downslanted palpebral fissures OMIM:602849
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Ptosis, Seizure, Facial palsy OMIM:610131
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Tremor, Spasticity, Rigidity OMIM:176500
Goldberg-Shprintzen Megacolon Syndrome
Seizure, Ptosis, Sparse eyebrow, Aganglionic megacolon ORPHA:66629
Riddle Syndrome
Gait disturbance, Conjunctival telangiectasia, Poor hand-eye coordination, Ataxia, Weight loss, C... ORPHA:420741
Sialuria
Seizure, Hyperkinetic movements, Epicanthus, Neuropathic spinal arthropathy ORPHA:3166
Cap Polyposis
Weight loss ORPHA:160148
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Scoliosis, Thoracolumbar scoliosis, Ptosis, Epicanthus, Platyspondyly, Short neck OMIM:616723
Hoxha-Aliu Syndrome
Sacral dimple, Increased vertebral height, Abnormal vertebral morphology, Highly arched eyebrow, ... OMIM:620662
Acrofacial Dysostosis, Cincinnati Type
Upper eyelid coloboma, Lower limb spasticity, Pterygium, Dandy-Walker malformation, Seizure, Infa... OMIM:616462
Fetal Alcohol Syndrome
Ptosis, Vertebral segmentation defect, Telecanthus, Epicanthus ORPHA:1915
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Ohdo Syndrome
Seizure, Ptosis, Sparse eyebrow, Epicanthus, Blepharophimosis OMIM:249620
Cockayne Syndrome Type 3
Difficulty walking, Retinal dystrophy, Seizure, Retinal atrophy, Scoliosis, Retinal hemorrhage, O... ORPHA:90324
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Optic atrophy, Seizure, Ptosis, Epicanthus, Lacrimal duct stenosis ORPHA:457193
Basel-Vanagaite-Smirin-Yosef Syndrome
Difficulty walking, Inability to walk, Spasticity, Seizure, Scoliosis, Kyphosis, Ptosis, Downslan... ORPHA:464738
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Inability to walk, Broad-based gait, Seizure, Scoliosis, Exaggerated startle res... ORPHA:438213
Poliomyelitis
Fatigable weakness of respiratory muscles, Hyperkinetic movements, Inability to walk, Fasciculati... ORPHA:2912
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:276621
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Highly arched eyebrow, Ptosis, Upslanted palpebral fissure, Epicanthus inversus ORPHA:2988
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Cervical spinal canal stenosis, Hypertonia, Focal myoclonic seizure, Sacral dimple, Inability to ... ORPHA:508533
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Ptosis, Scoliosis, Retinal detachment ORPHA:2712
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3344
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Scoliosis, Tremor, Kyphosis, Speech apraxia, Slender build, Ataxia, Cerebellar hy... OMIM:300967
Malignant Atrophic Papulosis
Ptosis, Weight loss, Pain insensitivity ORPHA:679
Osteosarcoma
Weight loss ORPHA:668
Jacobsen Syndrome
Optic atrophy, Telecanthus, Abnormal eyelash morphology, Spasticity, Ptosis, Chorioretinal colobo... OMIM:147791
Chronic Beryllium Disease
Weight loss ORPHA:133
Molybdenum Cofactor Deficiency, Complementation Group B
Hypertonia, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms, Opisthotonus, Spastic tetr... OMIM:252160
Alveolar Echinococcosis
Abnormal vertebral morphology, Hemiparesis, Ataxia, Weight loss, Low back pain ORPHA:284
Arima Syndrome
Optic atrophy, Retinal dystrophy, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Ptosis,... OMIM:243910
Inhalational Botulism
Paralysis, Ptosis ORPHA:254504
Intellectual Developmental Disorder, Autosomal Dominant 29
Short palpebral fissure, Hypertonia, Hyperlordosis, Synophrys, Ptosis, Downslanted palpebral fiss... OMIM:616078
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Kyphosis ORPHA:1883
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Takayasu Arteritis
Weight loss ORPHA:3287
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... ORPHA:2311
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Scoliosis, Hyperlordosis, Upper motor neuron dysfunction, Kypho... ORPHA:763
20Q11.2 Microduplication Syndrome
Palpebral edema, Sacral dimple, Lingual dystonia, Ptosis, Downslanted palpebral fissures, Epicant... ORPHA:363659
Frontonasal Dysplasia 1
Ptosis, Epicanthus OMIM:136760
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia OMIM:618086
Prader-Willi Syndrome
Impaired pain sensation, Poor gross motor coordination, Poor fine motor coordination, Seizure, In... OMIM:176270
Cardiofaciocutaneous Syndrome 1
Optic nerve dysplasia, Hypertonia, Oculomotor apraxia, Absent eyelashes, Seizure, Scoliosis, Abse... OMIM:115150
Goldberg-Shprintzen Syndrome
Telecanthus, Limb hypertonia, Highly arched eyebrow, Synophrys, Ptosis, Downslanted palpebral fis... OMIM:609460
Pseudoxanthoma Elasticum, Forme Fruste
Angioid streaks of the fundus, Macular degeneration, Scoliosis, Kyphosis, Retinal hemorrhage OMIM:177850
Becker Nevus Syndrome
Scoliosis, Kyphosis, Spina bifida occulta ORPHA:64755
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Cowden Syndrome 6
Angioid streaks of the fundus, Scoliosis, Seizure, Kyphosis, Intention tremor OMIM:615109
Phosphoribosylpyrophosphate Synthetase Superactivity
Ptosis, Downslanted palpebral fissures, Ataxia, Epicanthus, Small for gestational age OMIM:300661
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Kyphosis, Hypoplasia of the odont... OMIM:253220
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Palpebral edema, Cerebral palsy, Kyphosis, Head titubation, Ataxia, Tip-toe gait, Hypertonia, Bro... OMIM:619475
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Cole-Carpenter Syndrome
Scoliosis, Downslanted palpebral fissures, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Cronkhite-Canada Syndrome
Cachexia, Aplasia/Hypoplasia of the eyebrow ORPHA:2930
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Increased vertebral height, Thoracic kyphoscoliosis, Ptosis, Failure to thrive in infancy, Lumbar... OMIM:613385
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Optic nerve hypoplasia, Seizure, Scoliosis, Kyphosis, Upslanted palpebral ... ORPHA:261250
Doors Syndrome
Optic atrophy, Bilateral ptosis, Spina bifida occulta, Dandy-Walker malformation, Hemivertebrae, ... ORPHA:79500
Celiac Disease, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:212750
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Ptosis, Downslanted palpebral fissures, Epicanthus, Short neck, Pigmenta... OMIM:614230
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Trichiasis, Entropion, Kyphosis, Sparse eyebrow, Thin eyebrow OMIM:609944
Autosomal Dominant Centronuclear Myopathy
Ptosis, Difficulty walking, Large for gestational age ORPHA:169189
Cdags Syndrome
Ectropion, Kyphosis, Sparse eyelashes, Ptosis, Sparse eyebrow OMIM:603116
Pfeiffer Syndrome
Ptosis, Hyperlordosis, Short neck ORPHA:710
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypertonia, Typical absence seizure, Generalized myoclonic seizure, Sacral dimple, Broad-based ga... ORPHA:268261
Igg4-Related Aortitis
Low back pain, Weight loss ORPHA:449400
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Cenani-Lenz Syndrome
Ectropion, Abnormal form of the vertebral bodies, Scoliosis, Ptosis, Downslanted palpebral fissures ORPHA:3258
Acrofrontofacionasal Dysostosis 2
Ptosis, Downslanted palpebral fissures, Sacral dimple OMIM:239710
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Hypertonia, Generalized myoclonic seizure, Thoracolumbar kyphosis, Oculomotor apraxi... ORPHA:2072
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Seizure, Spasticity, Myoclonus OMIM:246450
Insulin-Like Growth Factor I Deficiency
Ptosis, Decreased body weight OMIM:608747
Neutral Lipid Storage Disease With Ichthyosis
Ectropion, Difficulty walking, Ptosis, Ataxia ORPHA:98907
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Supranuclear Palsy, Progressive, 1
Bradykinesia, Akinesia, Gait imbalance, Retrocollis, Falls, Axial dystonia, Tremor, Limb dystonia... OMIM:601104
Acrofrontofacionasal Dysostosis
Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Aplasia/Hypoplasia of the eyebrow ORPHA:1784
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Seizure, Scoliosis, Gait disturbance, Synophrys, Kyphosis,... ORPHA:3042
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Ptosis, Downslanted palpebral fissures, Lacrimal duct stenosis, Sparse eyebrow ORPHA:73246
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Optic atrophy, Bilateral ptosis, Retinal dystrophy, Long eyelashes, Long palpebral fissure, Downs... ORPHA:324540
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Nager Syndrome
Ptosis, Downslanted palpebral fissures, Sparse lower eyelashes, Aplasia/Hypoplasia of the eyebrow... ORPHA:245
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Chiari type I malformation, Highly arched eyebrow, Optic nerve hypoplasia, Dandy-Walker malformat... OMIM:617506
Arthrogryposis, Distal, Type 1A
Ptosis, Scoliosis OMIM:108120
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Tremor, Vocal cord paralysis, Weight loss ORPHA:29072
Scarf Syndrome
Abnormal form of the vertebral bodies, Ptosis, Downslanted palpebral fissures, Epicanthus, Short ... ORPHA:3134
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Abnormal vertebral morphology, Oculomotor apraxia, Highly arched eyebrow, Synophrys, Ptosis, Down... OMIM:616728
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Scoliosis, Hemivertebrae, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:104350
Thanatophoric Dysplasia Type 2
Platyspondyly, Seizure, Kyphosis ORPHA:93274
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short palpebral fissure, Telecanthus, Ptosis, Short neck, Cerebellar hypoplasia, Blepharophimosis OMIM:217980
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Cachexia, Failure to thrive, Sparse or absent eyelashes ORPHA:217346
Mesomelia-Synostoses Syndrome
Downslanted palpebral fissures, Ptosis, Abnormal eyebrow morphology, Telecanthus ORPHA:2496
Weiss-Kruszka Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:618619
Camurati-Engelmann Disease
Optic atrophy, Optic nerve compression, Abnormality of the vertebral column, Scoliosis, Hyperlord... ORPHA:1328
Kbg Syndrome
Telecanthus, Thoracic kyphosis, Synophrys, Long palpebral fissure, Ptosis, Downslanted palpebral ... OMIM:148050
Leishmaniasis
Weight loss ORPHA:507
Harrod Syndrome
Failure to thrive, Scoliosis, Kyphosis ORPHA:2115
Metachromatic Leukodystrophy
Tip-toe gait, Incoordination, Decerebrate rigidity, Tremor, Progressive spasticity, Frequent fall... ORPHA:512
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Spasticity, Ptosis, Ataxia, Somatic sensory dysfunction OMIM:615510
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Kaposi Sarcoma
Weight loss ORPHA:33276
Chilton-Okur-Chung Neurodevelopmental Syndrome
Bilateral ptosis, Limb hypertonia, Hooded eyelid, Highly arched eyebrow, Cerebellar vermis hypopl... OMIM:619841
Acrocraniofacial Dysostosis
Spina bifida occulta, Telecanthus, Abnormal form of the vertebral bodies, Ptosis, Downslanted pal... ORPHA:949
Congenital Myopathy 13
Kyphoscoliosis, Short palpebral fissure, Telecanthus, Scoliosis, Ptosis, Downslanted palpebral fi... OMIM:255995
Xfe Progeroid Syndrome
Cachexia, Scoliosis, Failure to thrive, Poor coordination OMIM:610965
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypertonia, Lower limb spasticity, Infantile spasms, Bilateral tonic-clonic seizure, Clonus, Myoc... ORPHA:447997
Hurler Syndrome
Bilateral ptosis, Kyphosis, Biconcave vertebral bodies, Short neck, Hypoplasia of the odontoid pr... OMIM:607014
Distal Triplication 15Q
Large for gestational age, Telecanthus, Dandy-Walker malformation, Scoliosis, Kyphosis ORPHA:314588
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Male hypogonadism, Kyphosis OMIM:615381
Mucolipidosis Iii Gamma
Short neck, Scoliosis, Hyperlordosis, Kyphosis OMIM:252605
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Aase-Smith Syndrome I
Ptosis, Dandy-Walker malformation OMIM:147800
Mucolipidosis Iii Alpha/Beta
Spondylolisthesis, Scoliosis, Kyphosis, Retinopathy, Retinal degeneration OMIM:252600
3Mc Syndrome 1
Caudal appendage, Sacral dimple, Telecanthus, Spina bifida occulta, Highly arched eyebrow, Synoph... OMIM:257920
Mucopolysaccharidosis Type 6
Short neck, Ovoid vertebral bodies, Failure to thrive, Kyphosis ORPHA:583
Majeed Syndrome
Cachexia, Failure to thrive, Weight loss ORPHA:77297
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Tetraplegia, Tremor, Periodic hypokalemic paresis, Obesity, Weight loss, P... ORPHA:79102
Buratti-Harel Syndrome
Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis, Epicanthus OMIM:619314
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Scoliosis, Kyphosis, Failure to thrive, Upslanted palpebral fissure OMIM:617602
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Ohdo Syndrome, X-Linked
Scoliosis, Decreased body weight, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicant... OMIM:300895
Sunct Syndrome
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:57145
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Scoliosis, Seizure, Kyphosis, Gait disturbance, Hypogonadism ORPHA:500055
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Vertebral segmentation defect, Upslanted palpebral fissure, Kyphosis ORPHA:1005
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Ptosis, Hypogonadotrop... ORPHA:45358
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Noonan Syndrome 14
Kyphosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Short neck, Lacrimal duct s... OMIM:619745
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Impotence, Non-obstructive azoospermia, Hypergonadotropic hypogonadism, Kyphosis, Ab... ORPHA:2232
Short Syndrome
Weight loss, Telecanthus ORPHA:3163
Duane Retraction Syndrome
Short palpebral fissure, Optic disc hypoplasia, Oculomotor apraxia, Abnormal form of the vertebra... ORPHA:233
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Ptosis, Seizure, Azoospermia OMIM:300845
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Downslanted palpebral fissures, Scoliosis, Kyphosis OMIM:619951
Fryns-Smeets-Thiry Syndrome
Cachexia, Scoliosis ORPHA:2058
X-Linked Mandibulofacial Dysostosis
Ptosis, Downslanted palpebral fissures, Epicanthus, Aplasia/Hypoplasia of the eyebrow ORPHA:1131
Cardiofaciocutaneous Syndrome
Sparse or absent eyelashes, Abnormal eyelash morphology, Scoliosis, Long palpebral fissure, Ptosi... ORPHA:1340
Molybdenum Cofactor Deficiency, Complementation Group A
Seizure, Spastic tetraparesis, Myoclonic spasms, Opisthotonus, Spastic tetraplegia OMIM:252150
Bullous Pemphigoid
Weight loss ORPHA:703
Marshall-Smith Syndrome
Kyphoscoliosis, Hypertonia, Atlantoaxial dislocation, Highly arched eyebrow, Scoliosis, Thoracic ... OMIM:602535
Poems Syndrome
Hyperesthesia, Weight loss, Sclerotic vertebral endplates, Paresthesia ORPHA:2905
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Scoliosis, Hemivertebrae, Kyphosis, Downslanted palpebral fissures, Short neck ORPHA:958
Orthostatic Hypotension 1
Ptosis, Seizure, Retrograde ejaculation, Orthostatic hypotension OMIM:223360
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Spasticity, Ataxia ORPHA:220295
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Irregular menstruation, Seizure, Kyphosis, Platyspondyly, Focal impaired awareness seizure, Lumba... OMIM:616482
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Enlarged cerebellum, Bilateral ptosis, Oculomotor apraxia, Synophrys, Clonus, Lower limb hyperton... ORPHA:477993
Cole-Carpenter Syndrome 2
Platyspondyly, Downslanted palpebral fissures, Kyphosis OMIM:616294
Polyarteritis Nodosa
Weight loss ORPHA:767
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Distichiasis, Ptosis, Conjunctivitis, Lacrimal punctal atresia ORPHA:91416
Mend Syndrome
Hypertonia, Sacral dimple, Dandy-Walker malformation, Seizure, Kyphosis, Narrow palpebral fissure... OMIM:300960
Carey-Fineman-Ziter Syndrome 1
Spinal rigidity, Scoliosis, Ptosis, Downslanted palpebral fissures, Failure to thrive, Lagophthal... OMIM:254940
Shprintzen-Goldberg Syndrome
Telecanthus, Abnormal form of the vertebral bodies, Scoliosis, Ptosis, Downslanted palpebral fiss... ORPHA:2462
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Paget Disease Of Bone 5, Juvenile-Onset
Angioid streaks of the fundus, Kyphosis, Retinopathy, Retinal degeneration, Macular scar OMIM:239000
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Scoliosis, Thoracic kyphosis, Waddling gait, Kyphosis, Hypoplasia of... OMIM:223800
Tsh-Secreting Pituitary Adenoma
Male hypogonadism, Erectile dysfunction, Seizure, Tremor, Decreased fertility in males, Impotence... ORPHA:91347
Agel Amyloidosis
Bilateral ptosis, Facial palsy, Ataxia, Orthostatic hypotension due to autonomic dysfunction, Ble... ORPHA:85448
Microcephalic Primordial Dwarfism, Montreal Type
Ptosis OMIM:210700
Infant Botulism
Ptosis, Cerebral palsy, Keratoconjunctivitis sicca ORPHA:178478
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Vertebral compression fracture, Retinal calcification, Vitreoretinopathy, Exudati... OMIM:259770
Six2-Related Frontonasal Dysplasia
Small for gestational age, Ptosis, Epicanthus inversus ORPHA:488437
Polymyositis
Weight loss, Gait disturbance ORPHA:732
Cardiac Valvular Dysplasia, X-Linked
Ptosis OMIM:314400
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Short palpebral fissure, Cervical spinal canal stenosis, Focal-onset seizure, Sacr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Short palpebral fissure, Cervical spinal canal stenosis, Focal-onset seizure, Sacr... ORPHA:363958
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Marden-Walker Syndrome
Short palpebral fissure, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Ptosis, Fail... ORPHA:2461
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Dandy-Walker malformation, Seizure, Sparse ... OMIM:605627
Congenital Multicore Myopathy With External Ophthalmoplegia
Ptosis, Scoliosis, Facial diplegia, Facial palsy ORPHA:98905
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Retinal detachment, Seizure, Scoliosis, Kyphosis, Hemiplegia/hemiparesis, Abnormal... ORPHA:394
Polyvalvular Heart Disease Syndrome
Ptosis ORPHA:228410
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Seizure, Spasticity, Scoliosis, Hemivertebrae, Bilateral tonic-clonic seizure, Ky... OMIM:301040
Seckel Syndrome
Scoliosis, Cachexia, Downslanted palpebral fissures ORPHA:808
Wiedemann-Steiner Syndrome
Short palpebral fissure, Sacral dimple, Telecanthus, Synophrys, Long eyelashes, Ptosis, Failure t... ORPHA:319182
Trichohepatoneurodevelopmental Syndrome
Ectropion, Scoliosis, Decreased body weight, Almond-shaped palpebral fissure, Synophrys, Ptosis, ... OMIM:618268
17Q24.2 Microdeletion Syndrome
Scoliosis, Synophrys, Ptosis, Downslanted palpebral fissures, Failure to thrive in infancy, Thick... ORPHA:529962
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Highly arched eyebrow, Seizure, Laterally extended eyebrow, Synophrys, Long eyelas... OMIM:610759
Kaufman Oculocerebrofacial Syndrome
Telecanthus, Ptosis, Sparse eyebrow, Ovoid vertebral bodies, Failure to thrive, Epicanthus, Upsla... OMIM:244450
Nephroblastoma
Weight loss ORPHA:654
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Sacral dimple, Seizure, Ptosis, Downslanted palpebral fissures, Epicanthus... OMIM:613603
Jackson-Weiss Syndrome
Ptosis ORPHA:1540
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Broad-based gait, Ptosis, Downslanted palpebral fissures, Hemiparesis, Thick eyebrow, Failure to ... ORPHA:369950
Kabuki Syndrome
Butterfly vertebrae, Abnormal form of the vertebral bodies, Highly arched eyebrow, Scoliosis, Hem... ORPHA:2322
Congenital Disorder Of Glycosylation, Type 2V
Narrow palpebral fissure, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:619493
Mend Syndrome
Sacral dimple, Limb hypertonia, Telecanthus, Dandy-Walker malformation, Kyphosis, Failure to thri... ORPHA:401973
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Upslanted palpebral fissure, Kyphosis OMIM:619123
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Seizure, Broad eyebrow, Kyphosis OMIM:619244
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Telecanthus, Broad-based gait, Highly arched eyebrow, Seizure, Bilateral tonic-clonic seizure, Re... OMIM:280000
Zttk Syndrome
Optic atrophy, Broad eyebrow, Spasticity, Seizure, Scoliosis, Hemivertebrae, Kyphosis, Downslante... OMIM:617140
Genitopalatocardiac Syndrome
Scoliosis, Downslanted palpebral fissures, Kyphosis ORPHA:2075
Aicardi-Goutières Syndrome
Hypertonia, Difficulty walking, Abnormality of extrapyramidal motor function, Extrapyramidal musc... ORPHA:51
Prolidase Deficiency
Ptosis, Failure to thrive OMIM:170100
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Paresthesia OMIM:175500
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Eosinophilic Granulomatosis With Polyangiitis
Hemiplegia/hemiparesis, Weight loss, Gait disturbance ORPHA:183
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Scoliosis, Kyphosis OMIM:259420
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Impaired pain sensation, Scoliosis, Vertebral segmentation defect, Shallow orbits, Long palpebral... ORPHA:453499
Acromelic Frontonasal Dysplasia
Ptosis, Seizure, Telecanthus, Retrocerebellar cyst ORPHA:1827
Aromatase Deficiency
Primary amenorrhea, Female infertility, Male infertility, Hypergonadotropic hypogonadism ORPHA:91
Rhyns Syndrome
Ptosis, Rod-cone dystrophy OMIM:602152
Aicardi-Goutieres Syndrome 7
Hypertonia, Lower limb spasticity, Limb hypertonia, Tetraplegia, Spastic tetraparesis, Cerebellar... OMIM:615846
Shprintzen Omphalocele Syndrome
Scoliosis, Decreased body weight, Kyphosis, Epicanthus, Lumbar hyperlordosis OMIM:182210
Frontorhiny
Ptosis, Scoliosis, Lumbar hyperlordosis, Epicanthus ORPHA:391474
Acrofrontofacionasal Dysostosis 1
Optic atrophy, S-shaped palpebral fissures, Seizure, Long eyebrows, Long eyelashes, Ptosis OMIM:201180
Silver-Russell Syndrome
Cachexia, Scoliosis, Failure to thrive in infancy, Obesity ORPHA:813
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies, Obesity, Abdominal obesity OMIM:219090
Mucolipidosis Type Ii
Inability to walk, Kyphosis, Shallow orbits, Weight loss, Epicanthus ORPHA:576
Loeys-Dietz Syndrome 5
Kyphoscoliosis, Spondylolisthesis, Cervical spine instability, Long palpebral fissure, Ptosis, Do... OMIM:615582
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Scoliosis, Neck pterygia, Kyphosis, Ptosis... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Secondary amenorrhea, Scoliosis, Neck pterygia, Kyphosis, Ptosis... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Secondary amenorrhea, Scoliosis, Neck pterygia, Kyphosis, Ptosis... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Secondary amenorrhea, Scoliosis, Neck pterygia, Kyphosis, Ptosis... ORPHA:881
Cardiac-Valvular Ehlers-Danlos Syndrome
Kyphoscoliosis, Seizure, Ptosis, Thoracolumbar scoliosis, Thick eyebrow ORPHA:230851
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Lymphedema-Distichiasis Syndrome
Ectropion, Kyphosis, Distichiasis, Ptosis, Conjunctivitis OMIM:153400
Monosomy 22Q13.3
Palpebral edema, Sacral dimple, Cerebellar cortical atrophy, Impaired pain sensation, Long eyelas... ORPHA:48652
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Scoliosis, Seizure, Kyphosis ORPHA:261190
Solitary Fibrous Tumor
Low back pain, Weight loss ORPHA:2126
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Ptosis, Downslanted palpebral fissures, Kyphosis ORPHA:2215
African Trypanosomiasis
Somatic sensory dysfunction, Impaired proprioception, Akinesia, Difficulty walking, Fasciculation... ORPHA:3385
Familial Glucocorticoid Deficiency
Failure to thrive, Tetraplegia, Weight loss ORPHA:361
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Cerebellar calcifications, Seizure, Tremor, A... OMIM:133540
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Bilateral ptosis, Sacral dimple, Impaired temperature sensation, Kyphosis, Thorac... ORPHA:536532
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Simple febrile seizure, Retinal detachment, Seizure, Scoliosis, Gait disturbance, Kyphosis, Abnor... ORPHA:464311
Au-Kline Syndrome
Sacral dimple, Vertebral segmentation defect, Shallow orbits, Sparse lateral eyebrow, Ptosis, Dow... OMIM:616580
Primary Hepatic Neuroendocrine Carcinoma
Ptosis, Weight loss ORPHA:100085
Van Maldergem Syndrome 1
Short palpebral fissure, Sacral dimple, Scoliosis, Ptosis, Epicanthus, Blepharophimosis OMIM:601390
Shprintzen-Goldberg Craniosynostosis Syndrome
Chiari type I malformation, Telecanthus, C1-C2 vertebral abnormality, Scoliosis, Shallow orbits, ... OMIM:182212
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss, Keratoconjunctivitis sicca ORPHA:79128
Multiple Endocrine Neoplasia, Type Iib
Scoliosis, Hyperlordosis, Kyphosis, Thick eyebrow, Failure to thrive in infancy OMIM:162300
Lathosterolosis
Butterfly vertebrae, Lumbosacral meningocele, Chiari type II malformation, Ptosis, Epicanthus OMIM:607330
8Q21.11 Microdeletion Syndrome
Ptosis, Downslanted palpebral fissures, Epicanthus, Short neck, Blepharophimosis ORPHA:284160
Scarf Syndrome
Abnormal form of the vertebral bodies, Ptosis, Downslanted palpebral fissures, Epicanthus, Short ... OMIM:312830
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Inability to walk, Impaired pain sensation, Optic nerve hypoplasia, Seiz... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Inability to walk, Impaired pain sensation, Optic nerve hypoplasia, Seiz... ORPHA:352665
3Mc Syndrome 3
Sacral dimple, Highly arched eyebrow, Ptosis, Epicanthus inversus, Blepharophimosis OMIM:248340
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy OMIM:616323
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Van Maldergem Syndrome 2
Short palpebral fissure, Sacral dimple, Scoliosis, Ptosis, Epicanthus, Narrow palpebral fissure, ... OMIM:615546
Lymphedema-Hypoparathyroidism Syndrome
Ptosis, Telecanthus OMIM:247410
Smith-Lemli-Opitz Syndrome
Optic atrophy, Hypertonia, Aganglionic megacolon, Abnormal form of the vertebral bodies, Abnormal... ORPHA:818
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Caudal interpedicular narrowing, Scoliosis, Kyphosis, Posterior scalloping of vertebral bodies, I... OMIM:603546
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Pachydermoperiostosis
Ptosis, Scoliosis, Cerebral palsy, Impaired temperature sensation ORPHA:2796
Myasthenic Syndrome, Congenital, 19
Ptosis, Spinal rigidity, Facial palsy OMIM:616720
Myasthenia Gravis
Ptosis, Facial palsy, Fatigable weakness OMIM:254200
Phace Syndrome
Retinal vascular malformation, Abnormality of the orbital region, Optic nerve hypoplasia, Dandy-W... ORPHA:42775
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ptosis, Failure to thrive OMIM:615453
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Noonan Syndrome 10
Scoliosis, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Short neck OMIM:616564
Cog1-Cdg
Kyphoscoliosis, Butterfly vertebrae, Cerebellar vermis hypoplasia, Vertebral segmentation defect,... ORPHA:263508
Loeffler Endocarditis
Weight loss ORPHA:75566
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism ORPHA:1578
Spondyloenchondrodysplasia
Platyspondyly, Chorea, Spasticity, Kyphosis ORPHA:1855
Loeys-Dietz Syndrome 4
Torticollis, Spondylolisthesis, Scoliosis, Ptosis, Downslanted palpebral fissures OMIM:614816
Cowden Syndrome
Conjunctival hamartoma, Scoliosis, Kyphosis, Abnormal cerebellum morphology, Failure to thrive, A... ORPHA:201
Codas Syndrome
Scoliosis, Ptosis, Lumbar scoliosis, Vocal cord paresis, Hypoplasia of the odontoid process, Coro... OMIM:600373
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Genitourinary And/Or Brain Malformation Syndrome
Kyphoscoliosis, Short palpebral fissure, Ptosis, Chordee, Epicanthus inversus, Epicanthus, Chiari... OMIM:618820
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Ptosis, Hypergonadotropic hypogonadism OMIM:212112
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Telecanthus, Scoliosis, Kyphosis, Long eyelashes, Epicanthus, Short neck, Upslante... OMIM:616894
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Spasticity, Seizure, Cerebellar atrophy, Ptosis, Ataxia, Rod-cone dystrophy OMIM:124000
Rheumatoid Arthritis
Weight loss OMIM:180300
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Telecanthus, Blepharophimosis, Long eyelashes, Ptosis, Small for gestational age OMIM:604314
Ophthalmoplegia, Familial Static
Ptosis OMIM:165000
Char Syndrome
Ptosis, Downslanted palpebral fissures ORPHA:46627
Spondylodysplastic Ehlers-Danlos Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Abnormal vertebral morphology, Congenital kyphoscoli... ORPHA:536471
Mgat2-Cdg
Scoliosis, Kyphosis, Long eyelashes, Failure to thrive, Downslanted palpebral fissures ORPHA:79329
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Beck-Fahrner Syndrome
Seizure, Ptosis, Lacrimal duct stenosis OMIM:618798
Vici Syndrome
Cerebellar vermis hypoplasia, Seizure, Ptosis, Epicanthus, Hypopigmentation of the fundus, Macula... OMIM:242840
Thanatophoric Dysplasia Type 1
Platyspondyly, Seizure, Kyphosis, Abnormal sacroiliac joint morphology ORPHA:1860
Familial Thrombocytosis
Weight loss, Paresthesia ORPHA:71493
Hajdu-Cheney Syndrome
Telecanthus, Scoliosis, Kyphosis, Synophrys, Biconcave vertebral bodies, Failure to thrive, Downs... ORPHA:955
Wolman Disease
Cachexia ORPHA:75233
Fetal Hydantoin Syndrome
Ptosis, Epicanthus ORPHA:1912
Multiple Myeloma
Weight loss, Vertebral compression fracture, Paresthesia ORPHA:29073
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Ptosis, Fatigable weakness ORPHA:257
Dysostosis, Stanescu Type
Short neck, Scoliosis, Hyperlordosis, Kyphosis ORPHA:1798
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Short palpebral fissure, Seizure, Scoliosis, Ptosis, Downslanted palpebral fissure... OMIM:309590
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypocalcemic seizures ORPHA:2239
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Ptosis, Downslanted palpebral fissures, Chiari malformation OMIM:123790
Multiple Synostoses Syndrome 1
Waddling gait, Ptosis, Spinal canal stenosis, Hypoplastic spinal processes, Upslanted palpebral f... OMIM:186500
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Acro-Renal-Ocular Syndrome
Short palpebral fissure, Aganglionic megacolon, Optic disc hypoplasia, Vertebral segmentation def... ORPHA:959
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Telecanthus, Scoliosis, Ptosis, Myoclonic seizure, Hooded upper eyelid, Multifocal seizures OMIM:618548
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:617821
Helsmoortel-Van Der Aa Syndrome
Bilateral ptosis, Short palpebral fissure, Truncal obesity, Scoliosis, Hyperlordosis, Ptosis, Dow... OMIM:615873
Ménétrier Disease
Weight loss ORPHA:2494
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Retinal detachment, Ptosis, Downslanted palpebral fissures, Epicanthus, Platyspon... OMIM:225400
Proboscis Lateralis
Orbital cyst, Abnormal nasolacrimal system morphology, Abnormality of the ocular adnexa, Optic ne... ORPHA:141099
Cornelia De Lange Syndrome 1
Optic atrophy, Hypertonia, Curly eyelashes, Highly arched eyebrow, Seizure, Synophrys, Long eyela... OMIM:122470
Trisomy 18
Hypertonia, Cachexia, Epicanthus, Chiari malformation, Blepharophimosis ORPHA:3380
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Highly arched eyebrow, Ptosis, Short palpebral fissure, Long eyelashes OMIM:615866
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Ptosis, Seizure, Upslanted palpebral fissure OMIM:619758
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Kyphosis OMIM:219080
Aniridia 1
Bilateral ptosis, Optic nerve hypoplasia, Chorioretinal hypopigmentation, Ptosis, Hypoplasia of t... OMIM:106210
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity, Kyphosis OMIM:610475
Cystic Echinococcosis
Weight loss, Abnormality of the vertebral column ORPHA:400
Autosomal Recessive Robinow Syndrome
Sacral dimple, Scoliosis, Vertebral segmentation defect, Kyphosis, Long eyelashes, Long palpebral... ORPHA:1507
Behçet Disease
Gait disturbance, Hemiparesis, Ataxia, Weight loss, Abnormal pyramidal sign, Keratoconjunctivitis... ORPHA:117
Aniridia-Absent Patella Syndrome
Ptosis ORPHA:1069
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Ptosis OMIM:606220
Native American Myopathy
Bilateral ptosis, Inability to walk, Downslanted palpebral fissures, Abnormal curvature of the ve... ORPHA:168572
Lymphedema-Distichiasis Syndrome
Ectropion, Ptosis, Distichiasis, Conjunctivitis ORPHA:33001
Dubowitz Syndrome
Short palpebral fissure, Sacral dimple, Telecanthus, Sparse lateral eyebrow, Ptosis, Epicanthus, ... OMIM:223370
Simple Cryoglobulinemia
Spontaneous pain sensation, Weight loss, Paresthesia ORPHA:91139
Felty Syndrome
Weight loss ORPHA:47612
Ramon Syndrome
Scoliosis, Seizure, Pigmentary retinopathy, Kyphosis, Optic disc pallor OMIM:266270
Pneumocystosis
Weight loss ORPHA:723
Alkaptonuria
Intervertebral disk degeneration, Kyphosis, Low back pain, Brown pigmentation of the conjunctiva,... OMIM:203500
Alstrom Syndrome
Scoliosis, Pigmentary retinopathy, Kyphosis, Hypergonadotropic hypogonadism, Cone/cone-rod dystro... OMIM:203800
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Ptosis, Downslanted palpebral fissures ORPHA:1555
Autosomal Dominant Robinow Syndrome
Sacral dimple, Curly eyelashes, Abnormal form of the vertebral bodies, Euryblepharon, Scoliosis, ... ORPHA:3107
Mosaic Trisomy 20
Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spinal canal stenos... ORPHA:1724
Frontofacionasal Dysplasia
S-shaped palpebral fissures, Telecanthus, Ptosis, Eyelid coloboma, Absent inner eyelashes, Blepha... OMIM:229400
Nail-Patella Syndrome
Scoliosis, Ptosis, Back pain, Antecubital pterygium, Lumbar hyperlordosis OMIM:161200
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Visceral Myopathy, Familial, With External Ophthalmoplegia
Ptosis OMIM:277320
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Ptosis, Scoliosis, Failure to thrive OMIM:615895
Wagro Syndrome
Ptosis, Downslanted palpebral fissures, Obesity OMIM:612469
Cree Mental Retardation Syndrome
Ptosis, Downslanted palpebral fissures OMIM:606851
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Hypertonia, Telecanthus, Seizure, Scoliosis, Ptosis, Epicanthus, Short neck, Bleph... OMIM:618164
Refractory Celiac Disease
Weight loss ORPHA:398063
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Dyrk1A-Related Intellectual Disability Syndrome
Seizure, Scoliosis, Gait disturbance, Kyphosis, Febrile seizure (within the age range of 3 months... ORPHA:464306
Waardenburg Syndrome
Aganglionic megacolon, Telecanthus, Synophrys, Ptosis, Abnormal eyebrow morphology ORPHA:3440
Neurofibromatosis Type 1
Abnormal eyelid morphology, Seizure, Scoliosis, Kyphosis, Abnormality of retinal pigmentation, At... ORPHA:636
Faciocardiomelic Syndrome
Large for gestational age, Telecanthus, Ptosis, Short eyelashes, Cuboid-shaped vertebral bodies OMIM:612731
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Large for gestational age, Long eyelashes, Ptosis, Downslanted palpebral fissures, Failure to thr... OMIM:607721
Fanconi Anemia
Short palpebral fissure, Abnormal eyelid morphology, Scoliosis, Almond-shaped palpebral fissure, ... ORPHA:84
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Pemphigus Vulgaris
Weight loss ORPHA:704
Spondyloperipheral Dysplasia
Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates, Platyspondyly, Short neck OMIM:271700
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Stickler Syndrome
Abnormal vitreous humor morphology, Spondylolisthesis, Telecanthus, Abnormal form of the vertebra... ORPHA:828
Tyshchenko Syndrome
Ptosis OMIM:615102
Primary Myelofibrosis
Cachexia ORPHA:824
Muenke Syndrome
Ptosis ORPHA:53271
Polycythemia Vera
Weight loss, Paresthesia ORPHA:729
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia ORPHA:48
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Ptosis, Primary amenorrhea, Pseudopapilledema OMIM:146255
Intestinal Botulism
Ptosis ORPHA:178481
Myasthenia Gravis
Ptosis, Seizure, Paresthesia ORPHA:589
Somatomammotropinoma
Palpebral edema, Impotence, Cerebral palsy, Synophrys, Kyphosis, Spinal canal stenosis, Dysmenorr... ORPHA:314769
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Palpebral edema, Abnormal lacrimal duct morphology, Abnormality of the ... ORPHA:79078
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Scoliosis, Hyperlordosis, Failure to thrive, Weight loss ORPHA:2020
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Dubowitz Syndrome
Sacral dimple, Telecanthus, Spina bifida occulta, Seizure, Scoliosis, Sparse lateral eyebrow, Pto... ORPHA:235
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss ORPHA:465508
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypertonia, Scoliosis, Kyphosis, Epicanthus, Short neck, Upslanted palpebral fissure OMIM:619194
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hyperlordosis, Synophrys, Ptosis, Downslanted palpebral fissures, Obesity, Epicanthus OMIM:301066
Congenital Myopathy 17
Ptosis, Downslanted palpebral fissures, Failure to thrive in infancy, Telecanthus OMIM:618975
Gabriele-De Vries Syndrome
Telecanthus, Tremor, Waddling gait, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Dysto... ORPHA:506358
Lynch Syndrome
Hypertonia, Gait disturbance, Hemiplegia/hemiparesis, Weight loss, Abnormal pyramidal sign, Pares... ORPHA:144
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Hurler-Scheie Syndrome
Scoliosis, Kyphosis OMIM:607015
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Failure to thrive, Epicanthus, Sho... OMIM:613563
Noonan Syndrome With Multiple Lentigines
Ptosis, Scoliosis, Decreased fertility, Spina bifida occulta ORPHA:500
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Intervertebral space narrowing, Highly arched eyebrow, Scoliosis, Waddling gait, ... OMIM:143095
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Sacral dimple, Scoliosis, Hemivertebrae, Long eyelashes, Long palpebral fissu... OMIM:268310
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
1P36 Deletion Syndrome
Optic atrophy, Seizure, Scoliosis, Gait disturbance, Kyphosis, Horizontal eyebrow, Hemiplegia/hem... ORPHA:1606
Branchio-Oculo-Facial Syndrome
Ptosis, Upslanted palpebral fissure, Nasolacrimal duct obstruction ORPHA:1297
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Scoliosis, Hemivertebrae, Kyphosis, Epicanthus, Short neck OMIM:618223
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Stevens-Johnson Syndrome
Entropion, Weight loss, Conjunctivitis ORPHA:36426
Marfanoid-Progeroid-Lipodystrophy Syndrome
Downslanted palpebral fissures, Kyphosis, Keratoconjunctivitis sicca OMIM:616914
Acromelic Frontonasal Dysostosis
Telecanthus, Optic nerve hypoplasia, Seizure, Remnants of the hyaloid vascular system, Retrocereb... OMIM:603671
Klatskin Tumor
Weight loss ORPHA:99978
Toxic Epidermal Necrolysis
Entropion, Weight loss, Conjunctivitis ORPHA:537
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Budd-Chiari Syndrome
Weight loss ORPHA:131
Neurofibromatosis-Noonan Syndrome
Scoliosis, Ptosis, Downslanted palpebral fissures, Short neck, Epicanthus, Lisch nodules OMIM:601321
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Abnormal vertebral morphology, Abnormality of the vertebral column, Abnorm... ORPHA:2273
Malt Lymphoma
Abnormal nasolacrimal system morphology, Weight loss ORPHA:52417
Moebius Syndrome
Facial palsy, Blepharitis, Ptosis, Epicanthus, Hypogonadotropic hypogonadism ORPHA:570
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Seizure, Tetraplegia, Myoclonus OMIM:618278
Charge Syndrome
Optic atrophy, Highly arched eyebrow, Abnormal cranial nerve morphology, Dandy-Walker malformatio... ORPHA:138
Cohen-Gibson Syndrome
Seizure, Scoliosis, Gait disturbance, Ptosis, Downslanted palpebral fissures, Epicanthus, Poor co... OMIM:617561
Arboleda-Tham Syndrome
Optic atrophy, Gait imbalance, Highly arched eyebrow, Seizure, Ptosis, Conjunctivitis, Lower limb... OMIM:616268
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Ovoid vertebral bodies, Thoracol... OMIM:618019
Gjc2-Related Late-Onset Primary Lymphedema
Ptosis ORPHA:568051
Acromegaly
Palpebral edema, Impotence, Cerebral palsy, Synophrys, Kyphosis, Spinal canal stenosis, Dysmenorr... ORPHA:963
Caroli Disease
Weight loss, Conjunctival icterus ORPHA:53035
Jacobsen Syndrome
Ectropion, Abnormal form of the vertebral bodies, Seizure, Scoliosis, Ptosis, Downslanted palpebr... ORPHA:2308
Skin Creases, Congenital Symmetric Circumferential, 2
Short palpebral fissure, Seizure, Synophrys, Ptosis, Downslanted palpebral fissures, Epicanthus, ... OMIM:616734
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Coffin-Siris Syndrome 4
Dandy-Walker malformation, Seizure, Scoliosis, Long eyelashes, Ptosis, Thick eyebrow OMIM:614609
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity, Kyphosis OMIM:610489
Tukel Syndrome
Ptosis, Congenital fibrosis of extraocular muscles OMIM:609428
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Synophrys, Cervical C5/C6 vertebrae fusion, Ptosis, Epicanthus inversus, Epicanthu... OMIM:613458
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Poorly formed metencephalon, Retinal dysplasia OMIM:601374
Microphthalmia, Syndromic 2
Retinal detachment, Dandy-Walker malformation, Seizure, Scoliosis, Remnants of the hyaloid vascul... OMIM:300166
Osteogenesis Imperfecta
Vertebral compression fracture, Enlarged vertebral pedicles, Abnormal form of the vertebral bodie... ORPHA:666
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss ORPHA:199299
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigable weakness of respiratory muscles, Difficulty walking, Inability to walk, Scoliosis, Hype... ORPHA:365
Rubinstein-Taybi Syndrome 1
Broad eyebrow, Spina bifida occulta, Highly arched eyebrow, Incoordination, Scoliosis, Long eyela... OMIM:180849
Intellectual Developmental Disorder, X-Linked 112
Retinopathy, Scoliosis, Kyphoscoliosis, Kyphosis OMIM:301111
Granulomatosis With Polyangiitis
Weight loss, Conjunctivitis OMIM:608710
Pituitary Apoplexy
Ptosis, Oligomenorrhea, Impotence, Hypergonadotropic hypogonadism ORPHA:95613
Chromosome Xq26.3 Duplication Syndrome
Seizure, Kyphosis OMIM:300942
Familial Osteodysplasia, Anderson Type
Abnormal form of the vertebral bodies, Scoliosis, Seizure, Kyphosis, Thick eyebrow ORPHA:2769
Lysosomal Acid Lipase Deficiency
Xanthelasma, Cachexia, Failure to thrive, Weight loss ORPHA:275761
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Myasthenic Syndrome, Congenital, 21, Presynaptic
Fatigable weakness of skeletal muscles, Ptosis, Difficulty walking OMIM:617239
Campomelic Dysplasia
Short neck, Scoliosis, Poorly ossified cervical vertebrae, Kyphosis ORPHA:140
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Leopard Syndrome 1
Kyphoscoliosis, Spina bifida occulta, Hypoplasia of the ovary, Delayed menarche, Ptosis, Epicanth... OMIM:151100
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Ptosis, Blepharophimosis ORPHA:2728
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Adult-Onset Still Disease
Weight loss ORPHA:829
Thymoma
Weight loss ORPHA:99867
Neuroocular Syndrome
Sacral dimple, Highly arched eyebrow, Distichiasis, Long eyelashes, Synophrys, Ptosis, Downslante... OMIM:619539
Williams Syndrome
Abnormal form of the vertebral bodies, Hyperlordosis, Kyphosis, Ataxia, Sacral dimple, Scoliosis,... ORPHA:904
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Ptosis, Downslanted palpebral fissures, Sacral dimple, Eyelid coloboma ORPHA:2211
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Teebi-Shaltout Syndrome
Highly arched eyebrow, Ptosis, Caudal appendage, Telecanthus OMIM:272950
Familial Pancreatic Carcinoma
Back pain, Weight loss ORPHA:1333
Chime Syndrome
Seizure, Retinal coloboma, Ptosis, Epicanthus, Upslanted palpebral fissure ORPHA:3474
Brucellosis
Chorea, Failure to thrive, Sacroiliac arthritis, Weight loss, Small for gestational age ORPHA:1304
Fetal Akinesia Deformation Sequence 1
Short palpebral fissure, Telecanthus, Ptosis, Short neck, Small for gestational age, Cerebellar h... OMIM:208150
Opitz Gbbb Syndrome
Telecanthus, Dandy-Walker malformation, Vertebral segmentation defect, Ptosis, Downslanted palpeb... ORPHA:2745
Rapp-Hodgkin Syndrome
Sparse eyelashes, Ptosis, Absent lacrimal punctum, Sparse eyebrow OMIM:129400
Hermansky-Pudlak Syndrome
Weight loss, Long eyelashes ORPHA:79430
Visual Impairment And Progressive Phthisis Bulbi
Ptosis OMIM:618283
Juvenile Dermatomyositis
Palpebral edema, Weight loss ORPHA:93672
Hunter-Macdonald Syndrome
Short palpebral fissure, Scoliosis, Ptosis, Upslanted palpebral fissure, Blepharophimosis OMIM:611962
22Q11.2 Deletion Syndrome
Optic atrophy, Retinal arteriolar tortuosity, Aganglionic megacolon, Telecanthus, Abnormal eyelid... ORPHA:567
Myhre Syndrome
Short palpebral fissure, Ptosis, Hypogonadism, Platyspondyly, Blepharophimosis ORPHA:2588
Ayme-Gripp Syndrome
Broad eyebrow, Chiari type I malformation, Seizure, Ptosis, Downslanted palpebral fissures, Upsla... OMIM:601088
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ptosis, Seizure OMIM:309520
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short palpebral fissure, Typical absence seizure, Focal-onset seizure, Sacral dimple, Ptosis, Ato... OMIM:617157
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Ptosis, Failure to thrive in infancy ORPHA:228426
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Al Amyloidosis
Weight loss ORPHA:85443
Spondyloarthropathy, Susceptibility To, 1
Back pain, Sacroiliac arthritis, Kyphosis OMIM:106300
Kikuchi-Fujimoto Disease
Palpebral edema, Ataxia, Weight loss ORPHA:50918
Myasthenia, Limb-Girdle, Autoimmune
Ptosis, Fatigable weakness OMIM:159400
Insulin-Resistance Syndrome Type B
Increased body weight, Decreased body weight, Abnormality of body weight, Weight loss ORPHA:2298
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis OMIM:610915
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Kabuki Syndrome 1
Bilateral ptosis, Abnormal vertebral morphology, Highly arched eyebrow, Seizure, Scoliosis, Bilat... OMIM:147920
Coffin-Siris Syndrome
Dandy-Walker malformation, Seizure, Scoliosis, Ptosis, Thick eyebrow, Prominent eyelashes ORPHA:1465
Cardiospondylocarpofacial Syndrome
Fused cervical vertebrae, Telecanthus, Scoliosis, Ptosis, Failure to thrive, Epicanthus, Upslante... OMIM:157800
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Keratoconjunctivitis sicca ORPHA:309031
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Scoliosis ORPHA:109
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Synophrys,... ORPHA:444077
Cornelia De Lange Syndrome
Hypertonia, Curly eyelashes, Highly arched eyebrow, Seizure, Synophrys, Long eyelashes, Blepharit... ORPHA:199
Combined Oxidative Phosphorylation Deficiency 33
Ptosis OMIM:617713
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Torticollis, Ptosis, Antecubital pterygium, Epicanthus, Short neck, Blepharo... OMIM:609945
Nijmegen Breakage Syndrome
Short neck, Abnormal eyelid morphology, Upslanted palpebral fissure, Cachexia ORPHA:647
Frank-Ter Haar Syndrome
Kyphoscoliosis, Kyphosis, Downslanted palpebral fissures, Anterior concavity of thoracic vertebra... OMIM:249420
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Weight loss ORPHA:49041
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Enlarged cerebellum, Aganglionic megacolon, Focal-onset seizure, Broad eyebrow, Telecanthus, Broa... ORPHA:261537
Menke-Hennekam Syndrome 1
Short palpebral fissure, Telecanthus, Scoliosis, Long eyelashes, Ptosis, Downslanted palpebral fi... OMIM:618332
Pearson Syndrome
Ptosis, Seizure, Ataxia, Pigmentary retinopathy ORPHA:699
Glycogen Storage Disease Xii
Ptosis, Short neck, Epicanthus OMIM:611881
Coffin-Lowry Syndrome
Lumbar kyphosis, Telecanthus, Highly arched eyebrow, Scoliosis, Decreased body weight, Kyphosis, ... OMIM:303600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Oculocerebrorenal Syndrome Of Lowe
Azoospermia, Seizure, Scoliosis, Kyphosis, Clonus, Platyspondyly, Chorioretinal dysplasia, Upslan... ORPHA:534
Coffin-Siris Syndrome 1
Sacral dimple, Spina bifida occulta, Dandy-Walker malformation, Seizure, Scoliosis, Kyphosis, Gai... OMIM:135900
Noonan Syndrome 3
Ptosis, Downslanted palpebral fissures, Chiari type I malformation, Epicanthus OMIM:609942
Branchiooculofacial Syndrome
Telecanthus, Seizure, Hyperlordosis, Facial palsy, Kyphosis, Retinal coloboma, Ptosis, Agenesis o... OMIM:113620
Treacher Collins Syndrome 1
Upper eyelid coloboma, Ptosis, Downslanted palpebral fissures, Lower eyelid coloboma, Sparse lowe... OMIM:154500
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Optic atrophy, Kyphoscoliosis, Seizure, Ptosis, Lower limb hypertonia, Epicanthus, Hypogonadism, ... OMIM:309580
Rat-Bite Fever
Back pain, Weight loss ORPHA:31205
Holoprosencephaly 4
Ptosis OMIM:142946
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the cervical spine, Weight loss ORPHA:85408
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Scoliosis, Hypogonadotropic hypogonadism, Kyphosis OMIM:619718
14Q22Q23 Microdeletion Syndrome
Ptosis, Downslanted palpebral fissures, Optic nerve aplasia, Epicanthus ORPHA:264200
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal-onset seizure, Highly arched eyebrow, Atypical absence seizure, Optic atrophy, Enlarged cer... ORPHA:261552
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Scoliosis, Seizure, Difficulty walking, Kyphosis OMIM:619482
Pancreatoblastoma
Weight loss ORPHA:677
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Abnormal nasolacrimal system morphology, Facial palsy, Kyphosis, Hypogonadism ORPHA:2658
Reactive Arthritis
Weight loss, Conjunctivitis ORPHA:29207
Systemic Lupus Erythematosus
Chorea, Weight loss ORPHA:536
Noonan Syndrome 2
Telecanthus, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Short neck OMIM:605275
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal form of the vertebral bodies, Highly arched eyebrow, Scoliosis, Kyphosis,... OMIM:194190
Costello Syndrome
Enlarged cerebellum, Chiari type I malformation, Ptosis, Downslanted palpebral fissures, Failure ... OMIM:218040
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Marfan Syndrome
Spondylolisthesis, Cachexia, Scoliosis, Kyphosis, Downslanted palpebral fissures, Slender build ORPHA:558
Smith-Lemli-Opitz Syndrome
Hypertonia, Aganglionic megacolon, Sacral dimple, Chiari type I malformation, Dandy-Walker malfor... OMIM:270400
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Neurofaciodigitorenal Syndrome
Ptosis, Downslanted palpebral fissures, Epicanthus ORPHA:2673
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyelashes, Kyphosis, Absent eyebrow ORPHA:85199
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Microsporidiosis
Cachexia, Keratoconjunctivitis, Weight loss ORPHA:2552
Lacrimoauriculodentodigital Syndrome
Abnormal lacrimal duct morphology, Hypoplasia of the lacrimal punctum, Lacrimal gland aplasia, Se... ORPHA:2363
Q Fever
Weight loss ORPHA:781
Mesomelia-Synostoses Syndrome
Ptosis, Downslanted palpebral fissures, Abnormal vertebral morphology, Telecanthus OMIM:600383
Sotos Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Aganglionic megacolon, Ab... ORPHA:821
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Castleman Disease
Weight loss ORPHA:160
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Highly arched eyebrow, Ptosis, Short neck ORPHA:2282
Degcags Syndrome
Sacral dimple, Abnormal eyelash morphology, Vocal cord paralysis, Synophrys, Long eyelashes, Ptos... OMIM:619488
Monosomy 13Q14
Ptosis, Short neck, Epicanthus, Retinoblastoma ORPHA:1587
Auriculocondylar Syndrome
Ptosis ORPHA:137888
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Cerebellar vermis hypoplasia, Seizure, Ptosis, Cerebellar hypoplasia OMIM:274000
Noonan Syndrome 1
Kyphoscoliosis, Male infertility, Ptosis, Downslanted palpebral fissures, Hypogonadism, Epicanthu... OMIM:163950
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Scoliosis, Abnormal autonomic nervous system physiology, Pto... ORPHA:285
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Failure to thrive in infancy ORPHA:37042
Good Syndrome
Ptosis, Fatigable weakness ORPHA:169105
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Noonan Syndrome
Scoliosis, Delayed menarche, Ptosis, Downslanted palpebral fissures, Hypogonadotropic hypogonadism ORPHA:648
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Loss of eyelashes, Shuffling gait, Shallow orbits, Absent eyebrow, Weig... ORPHA:740
Pyomyositis
Weight loss ORPHA:764
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Ptosis OMIM:167100
Primrose Syndrome
Seizure, Kyphosis, Synophrys, Hypergonadotropic hypogonadism, Ptosis, Downslanted palpebral fissu... OMIM:259050
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyelashes, Ptosis, Sparse eyebrow, Eyelid coloboma, Epicanthus ORPHA:306542
Zygomycosis
Retinal arterial occlusion, Abnormal cranial nerve morphology, Retinal detachment, Ptosis, Chemosis ORPHA:73263
Poland Syndrome
Retinal hamartoma, Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral segmentation defect,... ORPHA:2911
Meckel Syndrome, Type 1
Dandy-Walker malformation, Dilated fourth ventricle, Ptosis, Short neck, Epicanthus inversus, Chi... OMIM:249000
Granulomatosis With Polyangiitis
Hemiplegia, Weight loss ORPHA:900
Tropical Pancreatitis
Weight loss ORPHA:103918
Aspartylglucosaminuria
Beaking of vertebral bodies, Spondylolysis, Spondylolisthesis, Scoliosis, Spasticity, Kyphosis, P... OMIM:208400
Nocardiosis
Weight loss, Dacryocystitis, Conjunctivitis ORPHA:31204
Norrie Disease
Hypertonia, Cachexia, Scoliosis, Clonus, Failure to thrive, Aplasia/Hypoplasia of the cerebellum ORPHA:649
17Q11 Microdeletion Syndrome
Focal-onset seizure, Beaking of vertebral bodies T12-L3, Abnormality of the vertebral column, Ret... ORPHA:97685
Juvenile Polyposis Of Infancy
Cachexia, Downslanted palpebral fissures ORPHA:79076
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Ptosis OMIM:259100
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Trichiasis, Chiari type I malformation, Highly arched eyebrow, Ptosis, Downslanted palpebral fiss... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Trichiasis, Chiari type I malformation, Highly arched eyebrow, Ptosis, Downslanted palpebral fiss... ORPHA:353277
Holoprosencephaly 9
Optic nerve hypoplasia, Seizure, Ptosis, Absent lacrimal punctum, Epicanthus, Short neck OMIM:610829
Immunodeficiency 31C
Weight loss OMIM:614162
Proteus Syndrome
Retinal hamartoma, Abnormal form of the vertebral bodies, Seizure, Scoliosis, Retinal nonattachme... ORPHA:744
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Loeys-Dietz Syndrome 1
Spondylolisthesis, Scoliosis, Cervical spine instability, Ptosis, Downslanted palpebral fissures,... OMIM:609192
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Butterfly vertebrae, Aganglionic megacolon, Absent eyelashes, Seizure, Scoliosis, Absent eyebrow,... OMIM:308205
Cystinosis, Nephropathic
Failure to thrive, Failure to thrive in infancy, Weight loss OMIM:219800
Occipital Horn Syndrome
Platyspondyly, Seizure, Orthostatic hypotension, Kyphosis OMIM:304150
Diamond-Blackfan Anemia
Ptosis, Short neck, Small for gestational age, Epicanthus ORPHA:124
Igg4-Related Kidney Disease
Weight loss, Dacryocystitis ORPHA:449395
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ptosis, Seizure, Difficulty walking OMIM:618748
Cleidocranial Dysplasia 1
Scoliosis, Spondylolysis, Spondylolisthesis, Kyphosis OMIM:119600
Occipital Horn Syndrome
Scoliosis, Downslanted palpebral fissures, Platyspondyly, Kyphosis ORPHA:198
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Wrinkly Skin Syndrome
Scoliosis, Kyphosis, Failure to thrive, Downslanted palpebral fissures, Epicanthus OMIM:278250
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Weight loss OMIM:181000
Intellectual Developmental Disorder, Autosomal Dominant 68
Ptosis, Epicanthus OMIM:619934
Ppoma
Weight loss ORPHA:97278
Dermatomyositis
Abnormal eyelid morphology, Weight loss ORPHA:221
Sarcoidosis
Enlarged lacrimal glands, Dacryocystitis, Weight loss, Abnormal conjunctiva morphology, Keratocon... ORPHA:797
Somatostatinoma
Weight loss ORPHA:97283
Parathyroid Carcinoma
Weight loss ORPHA:143
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Peters-Plus Syndrome
Seizure, Scoliosis, Hemivertebrae, Retinal coloboma, Ptosis, Short neck, Narrow palpebral fissure... OMIM:261540
Vipoma
Weight loss ORPHA:97282
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Trichorhinophalangeal Syndrome, Type Ii
Seizure, Scoliosis, Ptosis, Hemiparesis, Febrile seizure (within the age range of 3 months to 6 y... OMIM:150230
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Grfoma
Weight loss ORPHA:97261
Glucagonoma
Weight loss ORPHA:97280
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ptosis OMIM:620303
Postinfectious Vasculitis
Weight loss ORPHA:48435
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Thick eyebrow ORPHA:1519
Alström Syndrome
Typical absence seizure, Drusen, Irregular menstruation, Retinal dystrophy, Incoordination, Poor ... ORPHA:64
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Kyphosis, Anterior wedging of T12, Hypoplasia of the odontoid process, Platyspondy... OMIM:300106
Autosomal Dominant Cutis Laxa
Ptosis, Scoliosis, Abnormal curvature of the vertebral column ORPHA:90348
Charge Syndrome
Scoliosis, Hemivertebrae, Facial palsy, Retinal coloboma, Ptosis, Downslanted palpebral fissures,... OMIM:214800
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Failure to thrive, Scoliosis, Kyphosis OMIM:309000
Microphthalmia, Syndromic 1
Kyphoscoliosis, Aganglionic megacolon, Seizure, Scoliosis, Ptosis, Chorioretinal coloboma, Optic ... OMIM:309800
Viss Syndrome
Ectropion, Butterfly vertebrae, Retinal detachment, Scoliosis, Kyphosis, Long palpebral fissure, ... OMIM:619472
Chronic Graft Versus Host Disease
Weight loss, Keratoconjunctivitis sicca ORPHA:99921
Multiple Endocrine Neoplasia Type 1
Weight loss ORPHA:652
Yunis-Varon Syndrome
Severe failure to thrive, Cerebellar vermis hypoplasia, Kyphosis, Sparse eyelashes, Failure to th... OMIM:216340
Mowat-Wilson Syndrome
Aganglionic megacolon, Broad eyebrow, Seizure, Ptosis, Downslanted palpebral fissures, Abnormal e... OMIM:235730
Cushing Syndrome Due To Ectopic Acth Secretion
Vertebral compression fracture, Increased body weight, Weight loss, Abdominal obesity, Truncal ob... ORPHA:99889
Okamoto Syndrome
Long palpebral fissure, Ptosis, Scoliosis ORPHA:2729
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Craniofacial Microsomia 1
Upper eyelid coloboma, Scoliosis, Hemivertebrae, Vertebral hypoplasia, Ptosis, Block vertebrae, C... OMIM:164210
Singleton-Merten Syndrome 1
Ptosis, Scoliosis, Waddling gait, Decreased body weight OMIM:182250
Kawasaki Disease
Conjunctival hyperemia, Ptosis, Conjunctivitis ORPHA:2331
Pallister-Killian Syndrome
Kyphoscoliosis, Hypertonia, Sacral dimple, Inability to walk, Telecanthus, Sparse eyelashes, Ptos... OMIM:601803
Pallister-Hall Syndrome
Hemivertebrae, Focal emotional seizure with laughing, Ptosis, Downslanted palpebral fissures, Cer... ORPHA:672
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Saethre-Chotzen Syndrome
Ptosis, Abnormal nasolacrimal system morphology, Shallow orbits OMIM:101400
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Ptosis OMIM:161700
Goodpasture Syndrome
Weight loss OMIM:233450
Vascular Ehlers-Danlos Syndrome
Telecanthus, Abnormal eyelash morphology, Hypoplastic lacrimal duct, Ptosis, Epicanthus, Aplasia/... ORPHA:286
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565

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 Atxn7

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 Atxn7.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The SAGA coactivator complex acts on the whole transcribed genome and is required for RNA polymerase II transcription. Genes & development (September 2014) Atxn7l3tm1(KOMP)Wtsi PMC4173158

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Atxn7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atxn7em1(IMPC)Bay Exon Deletion Mice
Atxn7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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