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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 startle reflex Atxn7em1(IMPC)Bay HOM Early adult 3.08×10-18
decreased prepulse inhibition Atxn7em1(IMPC)Bay HOM Early adult 4.90×10-15
abnormal bone structure Atxn7em1(IMPC)Bay HOM Early adult 6.12×10-05
decreased total body fat amount Atxn7em1(IMPC)Bay HOM Early adult 9.35×10-05
increased bone mineral content Atxn7em1(IMPC)Bay HOM Early adult 2.96×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

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
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinop... OMIM:164500
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Cone/cone-rod dystrophy, Somatic sensory dysfunction, Ataxia, Babinski sign, ... ORPHA:94147

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception, Scoliosis OMIM:176250
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia, Scoliosis OMIM:213000
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Cerebellar Ataxia, Cayman Type
Broad-based gait, Abnormal retinal morphology, Gait ataxia, Cerebellar hypoplasia, Nonprogressive... ORPHA:94122
Ataxia-Oculomotor Apraxia Type 1
Medial flaring of the eyebrow, Ataxia, Gait disturbance ORPHA:1168
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance ORPHA:98766
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... ORPHA:101010
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... OMIM:617018
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Giant som... OMIM:618876
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity ORPHA:217012
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Myasthenic Syndrome, Congenital, 18
Ataxia, Difficulty walking, Ptosis OMIM:616330
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Ataxia-Tapetoretinal Degeneration Syndrome
Ataxia, Pigmentary retinopathy, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Rod-cone ... ORPHA:1178
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoc... OMIM:256731
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai... OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Abnormal cerebellum morphology, Myoclonic s... OMIM:162350
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ... OMIM:605259
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizu... OMIM:301020
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Loss of ambulation OMIM:600143
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... OMIM:619742
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor OMIM:601238
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbanc... OMIM:616230
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clon... OMIM:611225
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus OMIM:125370
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Optic atrophy, Retinal dystrophy, Ataxia OMIM:614706
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Gait disturbance, Aplasia/Hypoplas... ORPHA:2572
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Abnormal eyelid morphology, Tremor, Babinski sign, Impaire... ORPHA:251282
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski... OMIM:615362
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Ataxia, Myoclonus, Retinal degeneration OMIM:204500
Spinocerebellar Ataxia 50
Cerebellar atrophy, Ptosis, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Fro... OMIM:620158
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Parkinsonism, Abnormal cerebellum morphology, Optic atrophy, Macu... OMIM:204200
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... ORPHA:423275
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Oculomotor-Levator Synkinesis
Ptosis, Eyelid retraction, Abnormal eyelid morphology OMIM:151610
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Pr... ORPHA:263516
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia ORPHA:98934
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Spastic paraplegia, Gait disturbance, Dystonia, Ptosis OMIM:108600
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,... OMIM:610185
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Scoliosis, Generalize... OMIM:616540
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Myoclonus OMIM:619303
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Bilateral tonic-clonic seizure with genera... ORPHA:2590
Myasthenic Syndrome, Congenital, 15
Frequent falls, Difficulty walking, Ptosis OMIM:616227
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Cerebellar dysplasia OMIM:615041
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Inability to wal... ORPHA:330050
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of ... OMIM:610743
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegener... OMIM:610951
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis ORPHA:101075
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Optic atrophy, Abnormal pyramidal sign, Hemiparesis, Status epilep... ORPHA:352596
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Weight loss, Gait ataxia, Progres... ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Ataxia, Corpus callosum atrophy, Re... OMIM:619389
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Epilepsia partialis continua, Ptosis, Ataxia, Tremor, Abnormal pyramidal sign... OMIM:612016
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Retinopathy, Abnormalit... ORPHA:306511
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Cerebellar vermis hypoplasia, Synophrys, ... OMIM:616127
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Myocl... OMIM:123400
Camos Syndrome
Ataxia, Optic atrophy, Spasticity, Brain atrophy, Aplasia/Hypoplasia of the cerebellum, Progressi... ORPHA:83472
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Inability to walk, Optic atrophy, Seizure, Athetosis, Gait disturba... OMIM:618241
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis ORPHA:101078
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L... ORPHA:319199
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Kyphosis, Babinski sign,... OMIM:614409
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Seizure, Hemiparesis, Myo... OMIM:606777
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr... ORPHA:101108
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic... OMIM:614487
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia, Ataxia ORPHA:2246
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... ORPHA:254343
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Spinocerebellar Ataxia 12
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Cerebellar hypoplasia,... OMIM:619971
Dystonia 23
Cerebellar atrophy, Torticollis, Gait disturbance, Myoclonus, Head tremor OMIM:614860
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Tortuosity of conjunctiva... OMIM:613728
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia OMIM:615705
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ata... OMIM:607136
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... OMIM:183090
Combined Oxidative Phosphorylation Deficiency 45
Epicanthus, Ataxia, Short neck, Tremor, Failure to thrive OMIM:618951
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmet... ORPHA:313772
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Spinocerebellar Ataxia 28
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... OMIM:610246
Vocal Cord Paralysis And Ptosis
Bilateral ptosis, Vocal cord paralysis OMIM:193240
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
X-Linked Progressive Cerebellar Ataxia
Unsteady gait, Babinski sign, Limb ataxia, Dysmetria, Spastic dysarthria, Progressive cerebellar ... ORPHA:1175
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Lethargy, Spasticity OMIM:617829
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Ptosis, Generalized-onset seizure, Slurred speech, Dysmetria, Limb ataxia, An... ORPHA:284289
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking, Giant... OMIM:613608
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Optic atrophy, Macular degeneration, Seizure, Myoclonus, Spasticity, Retinal degeneration OMIM:256730
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... OMIM:616421
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Seizure, Ptosis OMIM:620086
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... OMIM:616204
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Combined Saposin Deficiency
Generalized clonic seizure, Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasc... OMIM:611721
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... OMIM:302500
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, An... ORPHA:521406
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormality of extrapyramidal motor ... OMIM:204300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... ORPHA:276193
Myoclonus, Intractable, Neonatal
Optic disc pallor, Clonic seizure, Chorea, Athetosis, Myoclonus, Dandy-Walker malformation, Ptosis OMIM:617235
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Ptosis OMIM:616304
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Cerebellar vermis hypoplasia, Synophrys, Unsteady gait, Slurred speech, Babinski sign, ... ORPHA:453521
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Kyphoscoliosis OMIM:619099
Myasthenic Syndrome, Congenital, 13
Scoliosis, Ptosis OMIM:614750
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Babinski sign, Abnormal pyramida... ORPHA:363429
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypergonadotropic hyp... ORPHA:251347
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... OMIM:610357
Developmental And Epileptic Encephalopathy 23
Double eyebrow, Telecanthus, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hyp... OMIM:615859
Peho-Like Syndrome
Cerebellar atrophy, Epicanthus, Bilateral tonic-clonic seizure, Optic atrophy, Status epilepticus... OMIM:617507
Roussy-Lévy Syndrome
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai... ORPHA:3115
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Epileptic spasm, Inability to walk, Chorea, Myoclonic seizure, Seizure, Hyper... OMIM:614254
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ... OMIM:213200
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status epilepticus,... ORPHA:71277
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dysmetria, Gait ataxia, P... ORPHA:254881
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... OMIM:616756
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Tremor, Seizure, Myoclonus, Enhancement of the C-reflex OMIM:615127
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasc... OMIM:159950
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysmetria, Gait ataxia, Dysdiadochokinesis, Limb dysmetria, Ptosis ORPHA:324262
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Dysmetria, ... OMIM:616505
Parkinson-Dementia Syndrome
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign OMIM:260540
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure OMIM:611092
Ptosis-Vocal Cord Paralysis Syndrome
Hemiplegia, Ptosis ORPHA:2997
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... OMIM:614898
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, ... ORPHA:79263
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ty... OMIM:607682
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking OMIM:619191
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinop... OMIM:164500
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Spinocerebellar Ataxia Type 36
Ptosis, Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, D... ORPHA:276198
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Riboflavin Transporter Deficiency
Optic disc pallor, Ptosis, Ataxia, Facial palsy, Tremor, Seizure, Abnormality of macular pigmenta... ORPHA:97229
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Optic atrophy, Choreoathetosis, Status epilepticus, Myoclonus OMIM:609056
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... OMIM:617145
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Epicanthus, Ataxia, Head titubation, Dysmetria, Seizure, Abnormality of the vertebral column, Myo... OMIM:250620
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Gait ataxia, Choreoathetosi... ORPHA:225154
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... OMIM:618090
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Gait disturbance, Scoliosis ORPHA:99014
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Optic atrophy, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapy... OMIM:615338
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoc... ORPHA:139485
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, S... ORPHA:391417
Non-Specific Early-Onset Epileptic Encephalopathy
Ptosis, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady ga... ORPHA:442835
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital bilateral ptosis, Kyphosis, Congenital fibrosis of extraocular muscles, Highly arched ... OMIM:609384
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Foxg1 Syndrome
Optic disc hypoplasia, Bilateral tonic-clonic seizure, Kyphoscoliosis, Infantile spasms, Focal-on... ORPHA:561854
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p... OMIM:608105
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Babinski sign, Optic atrophy, Pigmentary retinopathy, Seizure, Myoclonus, Truncal ataxia,... OMIM:252011
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Scoliosis, Palatal tre... ORPHA:363717
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Spasticity OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait OMIM:618387
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor OMIM:606438
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... OMIM:117360
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at... ORPHA:98768
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Kyphosis, Optic atrophy, Distal sensory impairment, Difficulty walking, Scoliosis OMIM:617087
Developmental And Epileptic Encephalopathy 40
Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Lethargy, Spasticity OMIM:617065
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Isaacs Syndrome
Weight loss, Fasciculations, Distal sensory impairment ORPHA:84142
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign OMIM:617770
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... ORPHA:137898
Alexander Disease
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Abnormal dentate nucleus morphology, Palat... OMIM:203450
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus ORPHA:36899
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Generalized myoclonic seizure, Photosens... ORPHA:86909
Congenital Disorder Of Glycosylation, Type In
Ataxia, Short neck, Seizure, Myoclonus, Spasticity OMIM:612015
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... OMIM:607684
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Ataxia, Tongue fasciculations OMIM:620007
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Ataxia, Optic atrophy, Difficulty walking, Cerebral cortical atrophy OMIM:619425
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Scoliosis, Dysto... OMIM:619071
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Distal sensory impairment, Difficulty walking, Scoliosis, Ptosis OMIM:605285
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... OMIM:607565
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Narp Syndrome
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ba... ORPHA:644
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Seizure, Hypertonia, Cer... OMIM:225753
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Kyphosis, Synophrys, Unsteady gait, Scoliosis OMIM:300861
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s... ORPHA:93952
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
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
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Cerebral atrophy, Dysmetria, ... OMIM:618088
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Hyperlordosis, Bilateral ptosis, Gait disturbance, Ptosis OMIM:614198
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Oculopharyngeal Muscular Dystrophy 1
Ptosis, Gait disturbance, Progressive ptosis OMIM:164300
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
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Ptosis OMIM:618637
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
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Inability to walk, O... ORPHA:280234
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... ORPHA:98
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyp... OMIM:128100
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Synophrys, Gait disturbance, Scoliosis ORPHA:85317
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Brady... OMIM:617435
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Developmental And Epileptic Encephalopathy 69
Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Status epilepticus, Myoclonus OMIM:618285
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... OMIM:617282
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... OMIM:617854
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Seizur... OMIM:618060
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:618497
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Spinocerebellar Ataxia 42
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Optic atrophy, Spastic diplegi... ORPHA:401866
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Bradykinesia, Hypertoni... ORPHA:13
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degenerati... OMIM:619780
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Chorea, ... ORPHA:485350
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Chorioretinal dystrophy, Retinal dystrophy, Ataxia, Gait ataxia, Spinocerebel... OMIM:215470
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... ORPHA:1935
Hemimegalencephaly
Epileptic spasm, Optic atrophy, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, S... ORPHA:99802
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spastic tetraplegia, Choreoathetosis, Scoliosis, Dystonia, Spasticity, Failure to thrive, Ptosis OMIM:618238
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... OMIM:614877
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Kyphosis, Babins... ORPHA:88644
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:254800
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Seizur... OMIM:618356
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Bradyk... OMIM:137440
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ptosis, Ataxia, Facial palsy, Abnormal retinal morphology, Optic atrophy, Cog... ORPHA:254886
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Lethargy, Spasticity, Ptosis OMIM:618225
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ... ORPHA:2382
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation OMIM:617916
Atypical Rett Syndrome
Involuntary movements, Infantile spasms, Impaired pain sensation, Tremor, Kyphosis, Inability to ... ORPHA:3095
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... ORPHA:71517
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Hypoplastic opti... OMIM:210000
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Spasticity, Ataxia, Tremor OMIM:278780
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Spinocerebellar Ataxia 36
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... OMIM:614153
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Infantile Spasms Syndrome
Myoclonus, Infantile spasms ORPHA:3451
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Infantile spasms, Hypoplasia of the pons, Inability to walk, Synophrys, Generalized ... ORPHA:411986
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Focal dystonia, Gait... ORPHA:216873
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus OMIM:619065
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Uppe... ORPHA:98805
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Broad-based gait, Ataxia, Clonus, Bilateral ptosis, Unsteady gait, Abnormal p... OMIM:616479
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus OMIM:261630
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral toni... ORPHA:352582
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... OMIM:612020
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal auto... ORPHA:363722
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Myoclonus, Olivopontocerebellar hypoplasia ORPHA:166063
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Seizure, Lumbar kyphoscoliosis, Cerebellar hypopl... OMIM:619422
Sandhoff Disease
Kyphosis, Failure to thrive, Ataxia ORPHA:796
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ... OMIM:300423
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Park... ORPHA:314632
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... ORPHA:98759
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... OMIM:615157
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Camptocormia, Involuntary movements, Chorea, Choreoathetosis, Limb hypertonia, My... OMIM:606703
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
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Epicanthus, Bilateral tonic-clonic seizure with generalized onset, Infantile ... OMIM:615851
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Epicanthus, Small for gestational age ORPHA:85288
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Wei... ORPHA:157941
Spinocerebellar Ataxia Type 32
Male infertility, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy ORPHA:276183
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Synophrys, Truncal obesity, Gait disturbance, Scoliosis, Spasticity, Thick eyebrow ORPHA:2429
Juvenile Amyotrophic Lateral Sclerosis
Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb spasticity, Arm dyston... ORPHA:300605
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho... OMIM:611890
Wernicke-Korsakoff Syndrome
Ataxia, Ptosis OMIM:277730
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Gerstmann-Straussler-Scheinker Syndrome
Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Abnormality of extrapyramidal motor fun... ORPHA:356
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculom... OMIM:208920
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia, Long eyelashes, Scoliosis, Abn... ORPHA:48431
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Obesity, Distal sensory impairment, Sco... OMIM:618124
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Dystonia OMIM:617836
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence ... ORPHA:168491
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Spastic tetraplegia, Decreased body weight, Spasticity, Ptosis OMIM:616681
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Optic atrophy, Abnormal pyramidal sign, Seizure, Abnormality of extrapyra... ORPHA:79279
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Hemifacial Atrophy, Progressive
Blepharophimosis, Kyphosis, Ataxia, Horner syndrome OMIM:141300
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
Phosphoserine Aminotransferase Deficiency
Hypertonia, Seizure, Cerebellar vermis hypoplasia, Myoclonus OMIM:610992
Pontocerebellar Hypoplasia, Type 7
Epicanthus, Ataxia, Hypoplasia of the pons, Cryptorchidism, Synophrys, Spastic paraplegia, Optic ... OMIM:614969
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, ... OMIM:617404
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Spastic tetraparesis, Highly arched eyebrow, Inability to walk, Seizure, Dand... ORPHA:438178
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Ptosis, Facial palsy, Parkinsonism, Impaired distal proprioception, Rigidity,... OMIM:258450
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Gm1-Gangliosidosis, Type Iii
Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lumbar ... OMIM:230650
Combined Oxidative Phosphorylation Deficiency 20
Small for gestational age, Ataxia, Hypertonia, Cerebellar hypoplasia, Ptosis OMIM:615917
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Scoliosis, Spastic para... ORPHA:101077
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Spastic tetraparesis, Cerebellar vermis atrophy, Spasticity, Dandy-Walker ... OMIM:616154
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Kyphosis, Scoliosis, Ptosis ORPHA:3454
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... ORPHA:1170
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception... OMIM:616688
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Ptosis, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Babinski... OMIM:618170
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... OMIM:617810
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Kyphoscoliosis, Distal sensory impairment, Gait ataxia, Action tremor OMIM:180800
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Retinal dystrophy, Bilateral tonic-clonic seizure, ... ORPHA:464282
Intellectual Developmental Disorder, Autosomal Dominant 26
Epicanthus, Cerebral palsy, Small for gestational age, Thick eyebrow, Highly arched eyebrow, Kyph... OMIM:615834
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Retinal dystrophy, Ataxia, Elong... ORPHA:370022
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepti... OMIM:610539
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Sialidosis Type 1
Ataxia, Decreased nerve conduction velocity, Kyphosis, Tremor, Slurred speech, Abnormal form of t... ORPHA:812
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Unsteady gait, Hypertonia, Myoclonus OMIM:610090
Myasthenic Syndrome, Congenital, 12
Waddling gait, Facial palsy, Fatigable weakness, Retinoschisis, Ptosis OMIM:610542
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Microcephaly, Amish Type
Hypoplasia of the fovea, Cerebellar vermis hypoplasia, Optic atrophy, Cerebellar hypoplasia, Myoc... OMIM:607196
Myasthenic Syndrome, Congenital, 8
Ptosis OMIM:615120
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor c... ORPHA:79264
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls OMIM:300718
2p15-16.1 microdeletion syndrome
Downslanted palpebral fissures, Telecanthus, Optic disc hypoplasia, Ptosis DECIPHER:70
Hereditary Geniospasm
Chin myoclonus, Intention tremor ORPHA:53372
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... ORPHA:401768
Cdkl5-Deficiency Disorder
Infantile spasms, Impaired pain sensation, Focal-onset seizure, Kyphosis, Synophrys, Gait disturb... ORPHA:505652
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Opto-chiasmatic atrophy, Impaired proprioception, Dysmetria, Loss of ambulation, I... OMIM:615491
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... OMIM:619606
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... ORPHA:98810
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spinocerebellar Ataxia 47
Ataxia, Chorea, Dysmetria, Spasticity, Cerebellar vermis atrophy, Ptosis OMIM:617931
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia,... OMIM:619724
Huntington Disease
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... ORPHA:399
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,... ORPHA:99750
Baker-Gordon Syndrome
Epicanthus, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movem... OMIM:618218
Mepan Syndrome
Cerebellar atrophy, Ataxia, Chorea, Optic atrophy, Gait disturbance, Myoclonus, Spasticity ORPHA:508093
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Spermatogenic Failure 17
Male infertility OMIM:617214
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Bilateral ptosis, Abnormal pyramidal sign, Pigmentary retinopathy, Fatigable weakness of respirat... ORPHA:329336
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus OMIM:300699
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Ptosis, Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykine... ORPHA:70594
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,... OMIM:109150
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Scoliosis, Spasticity OMIM:609260
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Hypogonadism, Gait disturbance, Decreased testicular size, Ptosis ORPHA:1875
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria, Ptosis OMIM:618098
Spastic Ataxia 3, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Scoliosis, Dystonia, Loss of ... OMIM:611390
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o... ORPHA:101070
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebellar verm... ORPHA:33445
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
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
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Myoclonus, Dysmetria OMIM:618251
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, Lo... OMIM:270550
Dna2-Related Mitochondrial Dna Deletion Syndrome
Hyperlordosis, Congenital ptosis, Gait disturbance, Difficulty walking, Slender build ORPHA:352470
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Kyphosis, Crypt... ORPHA:364028
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis, Babinski sign, S... OMIM:615290
Pulmonary Blastoma
Weight loss ORPHA:64741
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait OMIM:303350
Pontocerebellar Hypoplasia, Type 16
Ptosis, Hypoplasia of the pons, Optic atrophy, Spastic tetraplegia, Seizure, Abnormality of extra... OMIM:619527
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Choreoathetosis, Seizure, Myoclonus, Episodic ataxia, Lethargy, Ptosis OMIM:312170
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Kyphosis, Spastic tetraplegia, Dystonia, Failure to thrive OMIM:618237
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evo... OMIM:607876
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Inability to walk, Narrow palpebral fissure, Tremor OMIM:616269
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Gait ataxi... ORPHA:500180
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Epileptic spasm, Hypoplasia of the pons, Optic atrophy, Hypoplastic opti... OMIM:617669
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Kyphoscoliosis, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Se... OMIM:617664
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Upslanted palpe... OMIM:617290
Myasthenic Syndrome, Congenital, 23, Presynaptic
Frequent falls, Ptosis OMIM:618197
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Hyperekplexia 4
Seizure, Hypertonia, Myoclonus, Kyphoscoliosis OMIM:618011
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Pontine Tegmental Cap Dysplasia
Ataxia, Head titubation, Hemivertebrae, Dysmetria, Ankle clonus, Scoliosis, Pontine tegmental cap... OMIM:614688
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal ... OMIM:619574
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Thyrocerebrorenal Syndrome
Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Borjeson-Forssman-Lehmann Syndrome
Ptosis, Kyphosis, Obesity, Narrow palpebral fissure, Scoliosis, Blepharophimosis, Scheuermann-lik... OMIM:301900
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Epicanthus, Abnormal retinal vascular morphology, Synophrys,... ORPHA:1390
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwheel rigidity, ... OMIM:619725
Meckel Syndrome 13
Oculomotor apraxia, Retinopathy, Cerebellar hypoplasia, Ataxia OMIM:617562
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, Chorea, Opt... ORPHA:98755
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Limb hypertonia ORPHA:324588
Joubert Syndrome 35
Telecanthus, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Synophrys, Oculomotor a... OMIM:618161
Myopathy With Extrapyramidal Signs
Ptosis, Epicanthus, Ataxia, Clonus, Short neck, Tremor, Chorea, Optic atrophy, Clumsiness, Choreo... OMIM:615673
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Babinski sign... OMIM:300055
Glycine Encephalopathy 1
Seizure, Myoclonus, Lethargy OMIM:605899
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... ORPHA:53351
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Ptosis, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis,... OMIM:607483
Baralle-Macken Syndrome
Inability to walk, Kyphosis, Obesity, Upslanted palpebral fissure, Dystonia, Spasticity OMIM:619255
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Benign Familial Neonatal Epilepsy
Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure... ORPHA:1949
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Scoliosis, Difficulty walking ORPHA:306669
Srd5A3-Cdg
Cerebellar atrophy, Optic disc hypoplasia, Ataxia, Kyphosis, Abnormal sacrum morphology, Abnormal... ORPHA:324737
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Hand tremor, Dysmetria, D... OMIM:302800
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Ptosis, Weakness due to upper motor neuron dysfunction, Kyphoscoliosis, Pr... ORPHA:466722
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Continuous Spikes And Waves During Sleep
Speech apraxia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Ty... ORPHA:725
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Seizure, Spasticity, Ataxia, Myoclonus OMIM:620094
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibrat... OMIM:606002
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis, Posterior fusion of lumbosacral vertebrae OMIM:192800
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Optic atrophy, Myoclonus OMIM:619057
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Kypho... ORPHA:97349
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreoathetosis,... OMIM:618877
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Coffin-Siris Syndrome 8
Long eyelashes, Scoliosis, Failure to thrive, Thick eyebrow, Ptosis OMIM:618362
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Decreased miniature endplate potentials, Prolonged miniature endplate current... OMIM:616321
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor... OMIM:617493
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Kyphosis, Impaired vibration... ORPHA:88628
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Sparse eyelashes, Tremor, Kyphosis, Inability to walk,... OMIM:617988
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizu... OMIM:271980
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Failure to thrive, Falls, Ptosis OMIM:616326
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Tuberculosis
Weight loss ORPHA:3389
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Optic atrophy, Abnormal form of the vertebral bodies, Dysmetria, L... ORPHA:93399
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Pigmentary retinopathy, Seizure, Retinal degeneration, Ptosis OMIM:520000
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... OMIM:245348
Peho Syndrome
Cerebellar atrophy, Epicanthus, Optic atrophy, Seizure, Myoclonus OMIM:260565
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... OMIM:617013
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... OMIM:183086
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Seizure, Status epilepticus, ... OMIM:607426
Developmental And Epileptic Encephalopathy 1
Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset seizure, Abnormal pyramidal si... OMIM:308350
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Spasticity, Failure to... OMIM:248800
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Bilateral ptosis, Optic atrophy, Ataxia ORPHA:329314
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Seizure, Gait disturbance, Myoclonus, Apraxia OMIM:618193
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Choreoathetosis, Gait disturbance, Scol... ORPHA:702
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb... OMIM:164400
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Autism Spectrum Disorder Due To Auts2 Deficiency
Epicanthus, Cerebral palsy, Small for gestational age, Highly arched eyebrow, Kyphosis, Bilateral... ORPHA:352490
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Retinal atrophy, Retinal thinning, Retinal dystrophy, Cerebellar vermis... OMIM:615960
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Small for gestational age, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Seizure, Status ep... ORPHA:363400
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Weight loss OMIM:613662
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis ORPHA:126
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Spasticity, Ptosis OMIM:125250
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Ataxia, Kyphoscoliosis, Obesity, Dystonia, Oculomotor apraxia ORPHA:459033
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Weight loss, Failure to thrive, Cachexia, Gait ataxia OMIM:612075
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus,... OMIM:619913
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Joubert Syndrome 3
Epicanthus, Cerebellar vermis hypoplasia, Retinal dystrophy, Ataxia, Highly arched eyebrow, Pigme... OMIM:608629
Christianson Syndrome
Cerebellar atrophy, Cachexia, Truncal ataxia, Gait ataxia, Dystonia, Aplasia/Hypoplasia of the ce... ORPHA:85278
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Facia... OMIM:617281
Autism, Susceptibility To, X-Linked 6
Obesity, Ptosis OMIM:300872
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Kyphoscoliosis, Cryptorchidism, Optic atrophy, Spastic diplegia, Ce... OMIM:600118
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Macular... ORPHA:816
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Downslanted palpebral fissures, Obesity, Scoliosis ORPHA:276630
Non-Distal Deletion 10Q
Epicanthus, Ataxia, Synophrys, Upslanted palpebral fissure, Gait disturbance, Ptosis ORPHA:1581
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Congenital Myasthenic Syndromes With Glycosylation Defect
Waddling gait, Lumbar hyperlordosis, Abnormal peripheral nervous system synaptic transmission, Fa... ORPHA:353327
Mcdonough Syndrome
Cachexia, Kyphosis, Synophrys, Scoliosis, Short palpebral fissure, Ptosis ORPHA:2471
Thyrocerebroretinal Syndrome
Seizure, Slurred speech, Ataxia, Myoclonus OMIM:274240
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... OMIM:312080
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Al... OMIM:620352
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Cryptorchidism, Decreased compound muscle action potential amplitude, Degeneration ... OMIM:301830
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Ataxia, Babinski sign, Optic atrophy, Seizure, Lethargy, Ptosis OMIM:618226
Schindler Disease, Type I
Seizure, Spasticity, Optic atrophy, Myoclonus OMIM:609241
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin... OMIM:614498
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Ataxia, Myoclonus, Ptosis OMIM:560000
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Seizure, Gait disturbance, Myoclonus, Apraxia, Abnormal upper motor neuron morphol... OMIM:221770
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ... ORPHA:228360
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Hyperlor... ORPHA:3085
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Hypoplasia of the pons, Vocal cord paralysis, Optic atrophy, Seizure, Increased ... ORPHA:500144
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Ck Syndrome
Epicanthus, Hyperlordosis, Almond-shaped palpebral fissure, Kyphosis, Upslanted palpebral fissure... OMIM:300831
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Abnormal cerebellar cortex morpholo... ORPHA:70595
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Brown-Vialetto-Van Laere Syndrome 1
Ptosis, Ataxia, Facial palsy, Kyphosis, Abnormal cerebellum morphology, Vocal cord paralysis, Clu... OMIM:211530
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Ataxia, Spastic paraplegia, Optic atrophy, Tetraplegia, Myoclonic seizure, Se... ORPHA:254913
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor ORPHA:98771
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
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Epicanthus, Tremor, Synophrys, Prominent protruding coccyx, Obesity, Spastic diplegia, Long eyela... ORPHA:480907
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Epicanthus, Scoliosis OMIM:300434
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Ataxia, Kyphoscoliosis, Dystonia OMIM:616684
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Incoordination, Tremor, Inability to walk, Typi... ORPHA:845
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Horizontal eyebrow, Ptosis OMIM:619311
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Optic atrophy, Opto-chia... OMIM:620089
Hengel-Maroofian-Schols Syndrome
Cerebellar atrophy, Epicanthus, Thick eyebrow, Inability to walk, Synophrys, Tetraplegia, Gait im... OMIM:619641
Joubert Syndrome 30
Cerebellar atrophy, Retinal dystrophy, Seizure, Superior cerebellar dysplasia, Dandy-Walker malfo... OMIM:617622
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... ORPHA:204
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... ORPHA:240094
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Optic atrophy, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Lethargy... OMIM:614299
Classic Galactosemia
Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur... ORPHA:79239
Intellectual Developmental Disorder, X-Linked 101
Unilateral ptosis, Seizure, Optic atrophy OMIM:300928
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Epicanthus, Almond-shaped palpebral fissure, Synophrys, Increased body weight, Hand tremor, Upsla... ORPHA:589905
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... ORPHA:458803
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal... OMIM:300623
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Ataxia, Morning glory anomaly, Spastic paraplegia, Optic atrophy, Hemiparesis... ORPHA:98673
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Oromandibular Dystonia
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... ORPHA:93958
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Oculopharyngodistal Myopathy 3
Tremor, Pigmentary retinopathy, Ataxia, Ptosis OMIM:619473
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Hereditary Hyperekplexia
Ataxia, Rigidity, Seizure, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Babinski sign, Impaired vibration sensation in the lower limbs, Impaired p... ORPHA:352641
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Broad-based gait, Telecanthus, Inability to walk, Seizure, Myoclonus, Long palpebral fissure OMIM:616158
Angelman Syndrome
Optic disc pallor, Broad-based gait, Ataxia, Infantile spasms, Tremor, Inability to walk, Optic a... ORPHA:72
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ... OMIM:607694
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Abnor... ORPHA:289494
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
Unilateral ptosis, Unilateral narrow palpebral fissure OMIM:182875
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Epicanthus, Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Focal-onset seizure, Optic atro... OMIM:618476
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Spasticity, Ptosis OMIM:618451
Multiple System Atrophy
Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p... ORPHA:102
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Chiari type I malformation, Bilateral ptosis, Spasticity, Downslanted palpebral fissures OMIM:618859
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Kyphoscoliosis, Tremor, Ob... ORPHA:3077
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Cerebellar vermis hypoplasia, Spastic tetraparesis, Short neck, Seizure, Hyperto... ORPHA:284417
Congenital Myopathy With Myasthenic-Like Onset
Failure to thrive, Gait disturbance, Scoliosis, Ptosis ORPHA:424107
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive ORPHA:477673
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Failure to thrive OMIM:619556
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Hemiplegia, Abnormality of retinal pigmentation, Facial palsy, Ptosis ORPHA:2743
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
X-Linked Creatine Transporter Deficiency
Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia, Ptosis ORPHA:52503
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat... ORPHA:542310
Oculopharyngodistal Myopathy
Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis, Progressive ... ORPHA:98897
Whistling Face Syndrome, Recessive Form
Epicanthus, Telecanthus, Kyphoscoliosis, Short neck, Blepharophimosis, Short palpebral fissure, P... OMIM:277720
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... ORPHA:98760
Trisomy 5P
Obesity, Scoliosis, Ptosis ORPHA:1742
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Opti... OMIM:609541
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Gait disturba... OMIM:615838
Episodic Ataxia Type 1
Cerebellar atrophy, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, T... ORPHA:37612
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... ORPHA:247234
Adult Intestinal Botulism
Ptosis, Cerebral palsy, Diaphragmatic paralysis ORPHA:178487
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Epicanthus, Failure to thrive in infancy, Cachexia, Short neck, Inability to walk, Hypertonia, Sc... OMIM:616801
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Neurodevelopmental Disorder With Spasticity And Poor Growth
Epicanthus, Ataxia, Clonus, Infantile spasms, Synophrys, Babinski sign, Myoclonic seizure, Opisth... OMIM:618076
Posttransplant Acute Limbic Encephalitis
Seizure, Ataxia, Abnormal autonomic nervous system physiology, Myoclonus ORPHA:163921
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Epicanthus, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, ... OMIM:619909
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... ORPHA:529665
Alzheimer Disease 3
Spastic tetraparesis, Babinski sign, Seizure, Abnormality of extrapyramidal motor function, Myocl... OMIM:607822
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Hypertonia, Myoclonus, Myoclonic seizure OMIM:618240
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Optic atrophy, Seizure, Hypertonia, Cerebellar hypoplasia, Myoclonus, S... ORPHA:3078
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment OMIM:604218
Adenylosuccinase Deficiency
Cerebellar atrophy, Inability to walk, Opisthotonus, Gait ataxia, Seizure, Myoclonus, Hemiplegia,... OMIM:103050
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis, Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral ver... ORPHA:2064
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... OMIM:617600
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Ptosis ORPHA:171706
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Camptocormia, Postural tremor, Parkinsonism, Ri... ORPHA:227510
Childhood-Onset Nemaline Myopathy
Waddling gait, Spinal rigidity, Fatigable weakness of bulbar muscles, Clumsiness, Bradykinesia, F... ORPHA:171439
4Q21 Microdeletion Syndrome
Short neck, Tremor, Kyphosis, Synophrys, Long eyelashes, Cerebellar hypoplasia, Scoliosis, Ptosis ORPHA:238750
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Impaired distal proprioception, Retinal pigment epithelial mottling, Hy... OMIM:607459
Gaucher Disease, Type Iii
Generalized myoclonic seizure, Ataxia, Myoclonus, Spastic paraparesis OMIM:231000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Hyperlordosis, Falls, Gait disturbance, Slender build, Ptosis OMIM:615156
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Cerebellar atrophy, Hypergonadotropic hypogonadism, Facial palsy,... OMIM:615084
Rett Syndrome
Dystonia, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Spasticity OMIM:312750
Idiopathic Achalasia
Weight loss ORPHA:930
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Gait disturbance, Cachexia, Hyperlordosis ORPHA:157973
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... OMIM:617523
Arthrogryposis, Distal, Type 2B3
Downslanted palpebral fissures, Scoliosis, Ptosis OMIM:618436
Joubert Syndrome 1
Optic disc pallor, Hemifacial spasm, Cerebellar vermis hypoplasia, Retinal dystrophy, Agenesis of... OMIM:213300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Vertebral fusion, Facial palsy, Hyperlordosis, Kyphosis, Tip-toe gait, Scolio... OMIM:606612
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis ORPHA:2047
Developmental And Epileptic Encephalopathy 84
Epicanthus, Chorea, Babinski sign, Synophrys, Opisthotonus, Dystonia, Blepharophimosis, Spasticit... OMIM:618792
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration, Ptosis OMIM:311000
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Bilateral tonic-clonic seizure, Chorea, Opisthotonus, Status epilepticus, Myo... OMIM:616672
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p... ORPHA:98933
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... ORPHA:90117
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Hypertonia, Myoclonus, Febr... ORPHA:289266
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Aganglionic megacolon, Retinal dystrophy, Ataxia, Highly arched eye... ORPHA:220493
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Epicanthus, Tremor, Hypoesthesia, Obesity, Hemiparesis, Hypertonia,... OMIM:619737
Glut1 Deficiency Syndrome 2
Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612126
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Sialidosis Type 2
Ataxia, Tremor, Kyphosis, Seizure, Abnormal macular morphology ORPHA:87876
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
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Upslanted palpebral fissure, Scoliosis, Downsl... OMIM:615761
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... OMIM:614381
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Retinal Dystrophy With Leukodystrophy
Waddling gait, Truncal titubation, Bilateral ptosis, Dysmetria, Falls OMIM:618863
Amyloidosis, Hereditary, Transthyretin-Related
Ptosis, Ataxia, Tremor, Amyloid deposition in the vitreous humor, Abnormal pyramidal sign, Parapl... OMIM:105210
Hall-Riggs Syndrome
Epicanthus, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive OMIM:234250
Wagr Syndrome
Dysfunction of lateral corticospinal tracts, Obesity, Scoliosis, Ptosis ORPHA:893
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral ptosis, Thoracic kyphosis, Scoliosis,... OMIM:619542
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Infantile spasms, Kyphosis, Cryptorchidism, Seizure, Scoliosis, Long palpebra... OMIM:619797
Intellectual Developmental Disorder With Autism And Macrocephaly
Overweight, Ptosis, Downslanted palpebral fissures, Clumsiness OMIM:615032
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance OMIM:603472
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Epicanthus, Tremor, Truncal titubation, Abnorma... OMIM:618056
Birk-Landau-Perez Syndrome
Ptosis, Camptocormia, Failure to thrive in infancy, Limb ataxia, Choreoathetosis, Upslanted palpe... OMIM:617595
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ataxia, Startle-induced seizure, Infantile spasms, Hypoplasia of th... ORPHA:467166
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chorea, Lagophthalmos, Athetosis, Myoclonus, Scoliosis, Oculomotor apraxia, Atonic seizure, Cone/... ORPHA:404454
Microtriplication 11Q24.1
Speech apraxia, Short neck, Synophrys, Retrocerebellar cyst, Seizure, Upslanted palpebral fissure... ORPHA:289522
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Epileptic spasm, Myoclonus OMIM:619060
Hypertrichosis Cubiti
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... ORPHA:2220
Neuraminidase Deficiency
Slurred speech, Dysmetria, Seizure, Myoclonus, Cherry red spot of the macula OMIM:256550
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... ORPHA:157846
Caribbean Parkinsonism
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... ORPHA:97355
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Imp... OMIM:146500
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Optic disc pallor, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Seiz... OMIM:619076
Cerebrotendinous Xanthomatosis
Abnormal eyelid morphology, Abnormal pyramidal sign, Thoracic kyphosis, Abnormal cerebellar pedun... ORPHA:909
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia, Ptosis ORPHA:1933
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Seizure, Downslanted palpebral fissures, Cryptorchidism OMIM:618512
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Female infertility, Premature ovarian insufficiency, Scoliosis OMIM:619518
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Hypoplasia of the pons, Scoliosis, Spina bifida occulta, Downslanted palp... OMIM:618736
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbanc... ORPHA:216866
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... OMIM:613839
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Focal seizure with eyelid myoclonia, Thoracic kyphosis, Myoclonus, ... ORPHA:2752
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism, Epicanthus, Abnormal fundus morphology, Ptosis ORPHA:2958
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Impaired vibration sensation in the lower limbs, Clumsiness, Steppage gait, Fasciculations, Frequ... ORPHA:521411
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Bilateral ptosis, Spastic paraplegia, Optic atrophy,... ORPHA:1215
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Pyruvate Dehydrogenase Deficiency
Epicanthus, Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Upslanted p... ORPHA:765
Aromatic L-Amino Acid Decarboxylase Deficiency
Ptosis, Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, A... OMIM:608643
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Scoliosis, Ptosis OMIM:618155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Inability to walk, Cerebellar hypo... OMIM:613155
Myasthenic Syndrome, Congenital, 5
Hyperlordosis, Prolonged miniature endplate currents, Fatigable weakness, Scoliosis, Ptosis OMIM:603034
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Ptosis OMIM:606242
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... OMIM:300957
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Epicanthus, Kyphosis, Hypertonia, Scoliosis, Blepharophimosi... OMIM:108145
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, ... OMIM:618443
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, ... ORPHA:445038
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Kyphosis, Babinski sign, Optic a... ORPHA:171629
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Gait disturbance, Myoclonus OMIM:600795
Microphthalmia, Syndromic 13
Kyphoscoliosis, Chorioretinal coloboma, Ptosis OMIM:300915
Proteus Syndrome
Kyphoscoliosis, Spinal canal stenosis, Limbal dermoid, Downslanted palpebral fissures, Ptosis OMIM:176920
Optic Atrophy 11
Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial diplegia, Seizure,... OMIM:617302
Inclusion Body Myopathy And Brain White Matter Abnormalities
Low back pain, Babinski sign, Fasciculations, Ptosis OMIM:619733
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Hyperphosphatasia-Intellectual Disability Syndrome
Epicanthus, Ataxia, Aganglionic megacolon, Bilateral tonic-clonic seizure, Short neck, Highly arc... ORPHA:247262
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Blepharophimosis, Telecanthus, Obesity, Ptosis OMIM:606772
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Ataxia, Optic atrophy, Dysmetria, Seizure, Yellow/white lesions of the r... ORPHA:93400
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare... ORPHA:3208
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Cryptorchidism, Babinski sign, Spastic tetraplegia, Spasticity, Opisthoto... OMIM:619847
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Limb myocl... ORPHA:139396
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Cerebellar atrophy, Cryptorchidism, Inability to walk,... OMIM:615663
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
Joubert Syndrome 7
Ataxia, Retinal dystrophy, Scoliosis, Oculomotor apraxia, Ptosis OMIM:611560
Coach Syndrome 3
Oculomotor apraxia, Ataxia, Ptosis OMIM:619113
Leigh Syndrome
Ataxia, Optic atrophy, Pigmentary retinopathy, Seizure, Spasticity, Ptosis OMIM:256000
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Microcephaly-Capillary Malformation Syndrome
Infantile spasms, Spastic tetraparesis, Optic atrophy, Seizure, Myoclonus, Ptosis OMIM:614261
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Optic neuropathy, Poor coordination, Abnormal autonomic nervous s... ORPHA:478029
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Myasthenic Syndrome, Congenital, 10
Waddling gait, Ptosis, Fatigable weakness OMIM:254300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Pa... OMIM:157640
Myasthenic Syndrome, Congenital, 14
Waddling gait, Hyperlordosis, Fatigable weakness, Scoliosis, Ptosis OMIM:616228
Lafora Disease
Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal... ORPHA:501
Congenital Myopathy 6 With Ophthalmoplegia
Waddling gait, Scoliosis, Ptosis OMIM:605637
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Decreased miniature endplate potentials, Facial palsy, Scoliosis, Ptosis OMIM:608930
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum ORPHA:1192
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis OMIM:617732
Combined Oxidative Phosphorylation Defect Type 7
Thoracic scoliosis, Ataxia, Inability to walk, Abnormal pyramidal sign, Distal sensory impairment... ORPHA:254930
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Ptosis OMIM:615911
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis, Ptosis ORPHA:2617
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Thick eyebrow, Ataxia, Generalized clonic seizure, Tremor, Focal-onset sei... OMIM:619229
Joubert Syndrome 26
Cerebellar vermis hypoplasia, Ptosis OMIM:616784
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Kyphoscoliosis, Tremor, Inability to walk, Optic... ORPHA:99956
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Impaired vibration sensation in the lower limbs, Gait ataxia, Spasti... ORPHA:95433
Ring Chromosome 1 Syndrome
Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:1437
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... OMIM:616640
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movement... OMIM:616271
Proximal Xq28 Duplication Syndrome
Blepharophimosis, Epicanthus, Gait disturbance, Ptosis ORPHA:1762
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Tremor, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis ORPHA:457365
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Aganglionic megacolon, Retinal dystrophy, Ataxia, Highly arched eye... ORPHA:2318
Proximal 16P11.2 Microduplication Syndrome
Sparse eyelashes, Tremor, Sparse eyebrow, Hemivertebrae, Scoliosis, Failure to thrive, Decreased ... ORPHA:370079
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper limb spasticity, G... ORPHA:457240
Joubert Syndrome
Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Abnormal form of the vertebr... ORPHA:475
Pyridoxal Phosphate-Responsive Seizures
Unsteady gait, Seizure, Hypertonia, Status epilepticus, Myoclonus ORPHA:79096
Typical Nemaline Myopathy
Waddling gait, Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Fatigable weak... ORPHA:171436
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal sacrum morphology, Optic atrophy, Abnormal form of the vertebral bodies, Chiari malforma... ORPHA:93262
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Lethargy, Limb hypertonia OMIM:233910
Zimmermann-Laband Syndrome 3
Kyphosis, Synophrys, Long eyelashes, Thick eyebrow OMIM:618658
Charcot-Marie-Tooth Disease And Deafness
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:118300
Myopathy, Centronuclear, 2
Waddling gait, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Ptosis OMIM:255200
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Distichiasis, Scoliosis ORPHA:2598
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Kyphosis, Cryptorchidism, Gait ataxia, Seizure, Hypogonadism, Decreased testicular size, ... OMIM:300354
Oculopharyngeal Muscular Dystrophy
Ptosis, Spondylolisthesis ORPHA:270
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Spastic tetraplegia, Opisthotonus, Seizur... OMIM:220120
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic par... OMIM:300894
Trisomy X
Tremor, Epicanthus, Upslanted palpebral fissure ORPHA:3375
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Abnormal... ORPHA:171695
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decreased nerve conduction... ORPHA:206436
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Palatal tremor, Truncal ataxia OMIM:113610
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Ptosis OMIM:619790
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal punctum, Highly arched eyebrow... ORPHA:572333
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Abnormal retinal morphology ORPHA:2786
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Epicanthus, Telecanthus, Sparse eyebrow, Dystonia, Thick eyebrow, Ptosis OMIM:617268
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cerebellar atrophy, Highly arched eyebrow, Cryptorchidism, Partial absence of cerebellar vermis, ... ORPHA:329224
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis, Weight loss OMIM:613239
Joubert Syndrome 8
Optic disc pallor, Ataxia, Pigmentary retinopathy, Hypertonia, Oculomotor apraxia, Ptosis OMIM:612291
Blepharophimosis, Ptosis, And Epicanthus Inversus
Ptosis, Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, ... OMIM:110100
Japanese Encephalitis
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Facial palsy, Weakness... ORPHA:79139
Mitochondrial Dna Depletion Syndrome 19
Infantile spasms, Focal-onset seizure, Hydrocele testis, Myoclonus, Tetraparesis, Spasticity OMIM:618972
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Ptosis, Torticollis, Pain insensitivity, Bilateral tonic-clonic seizure, Telecanthus, Infantile s... OMIM:620224
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Epileptic spasm, Telecanthus, Bilateral tonic-clonic seizure with generalized ons... ORPHA:314655
Neuroblastoma, Susceptibility To, 1
Ataxia, Horner syndrome, Weight loss, Myoclonus, Failure to thrive OMIM:256700
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Mosaic Trisomy 14
Blepharophimosis, Ptosis, Failure to thrive, Short neck ORPHA:1703
Chromosome 3Q13.31 Deletion Syndrome
Epicanthus, Kyphosis, Cryptorchidism, Seizure, Downslanted palpebral fissures, Decreased testicul... OMIM:615433
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Epicanthus, Scoliosis, Ptosis ORPHA:1825
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, Highly arched eyebrow, Tremor, Seizu... ORPHA:220497
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... ORPHA:309155
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Ptosis, Decreased body weight OMIM:300580
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Kleefstra Syndrome 2
Kyphosis, Thick eyebrow, Scoliosis OMIM:617768
Dystonia-Deafness Syndrome 1
Generalized dystonia, Small for gestational age, Oculogyric crisis, Kyphoscoliosis, Leg dystonia,... OMIM:607371
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Combined Oxidative Phosphorylation Deficiency 7
Ataxia, Distal sensory impairment, Facial paralysis, Failure to thrive, Ptosis OMIM:613559
Wolfram Syndrome 1
Ataxia, Tremor, Optic atrophy, Pigmentary retinopathy, Seizure, Testicular atrophy, Ptosis OMIM:222300
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Ptosis ORPHA:1373
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Epicanthus, Cachexia, Babinski sign, Dystonia, Spasticity, Ptosis OMIM:618186
Winchester Syndrome
Kyphosis OMIM:277950
Arthrogryposis, Distal, Type 7
Ptosis OMIM:158300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Loss of ambulation, Ptosis, Scoliosis, Spinal rigidity OMIM:619566
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal p... OMIM:614298
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, P... ORPHA:206594
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ... OMIM:619777
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Fatigable weakness, Facial palsy, Ptosis OMIM:616322
Thymic Carcinoma
Diaphragmatic paralysis, Palpebral edema, Weight loss ORPHA:99868
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Vocal cord paraly... ORPHA:98863
Distal Duplication 15Q
Short neck, Cryptorchidism, Seizure, Hypertonia, Blepharophimosis, Downslanted palpebral fissures... ORPHA:1707
Hypotonia-Cystinuria Syndrome
Epicanthus, Failure to thrive, Ptosis ORPHA:163690
Blepharophimosis-Impaired Intellectual Development Syndrome
Epicanthus, Sparse eyelashes, Highly arched eyebrow, Hypoplasia of the pons, Cryptorchidism, Syno... OMIM:619293
Chromosome 3Pter-P25 Deletion Syndrome
Sacral dimple, Epicanthus, Highly arched eyebrow, Cryptorchidism, Synophrys, Upslanted palpebral ... OMIM:613792
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cervical platyspondyly, Infantile spasms, Seizure, Cerebellar hypoplasia, Scoliosis, Ptosis OMIM:618731
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia ORPHA:1020
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Chronic Hiccup
Weight loss ORPHA:396
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Dystonia, Hyperlordosis, Tremor, Kyphosis, Unsteady gait, Abnormal ... ORPHA:354
Tetrasomy 12P
Telecanthus, Cachexia, Short neck, Sparse eyebrow, Upslanted palpebral fissure, Ptosis ORPHA:884
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebel... OMIM:615181
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Ptosis, Decreased miniature en... OMIM:254210
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyramidal motor func... OMIM:605711
Schuurs-Hoeijmakers Syndrome
Speech apraxia, Highly arched eyebrow, Cryptorchidism, Synophrys, Seizure, Long eyelashes, Cerebe... OMIM:615009
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Epicanthus, Cachexia, Short neck, Tremor, Kyphosis, Synophrys, Obesity, Scolios... ORPHA:85293
Refsum Disease, Classic
Somatic sensory dysfunction, Ataxia, Rod-cone dystrophy, Retinal degeneration, Ptosis OMIM:266500
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gai... OMIM:254900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, Tremor, Seizure, Myoclonus, Scoliosis, Gait imbalance ORPHA:98794
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Cerebellar vermis hypoplasia, Cryptorchidism, Optic atrophy, Seizure, Scoliosis, Chor... ORPHA:494344
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Fatigable weakness, Facial palsy, Ptosis OMIM:616325
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ptosis, Ataxia, Gait ataxia OMIM:613077
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Unsteady gait, Seizure, Gait disturbance, Myoclonus ORPHA:412217
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Short neck, Synophrys, Long eyelashes, Downslanted palpebral fissures, Thi... OMIM:300590
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, Ptosis OMIM:609283
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Torticollis, Optic nerve hypopl... ORPHA:300570
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Loss of ability to walk in early childhood, Small for gestational age, Inability to walk, Athetos... OMIM:612073
Autosomal Dominant Spastic Paraplegia Type 9A
Low back pain, Tremor, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Im... ORPHA:447753
11Q22.2Q22.3 Microdeletion Syndrome
Epicanthus, Obesity, Thick eyebrow, Ptosis ORPHA:444002
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... OMIM:617675
Joubert Syndrome 14
Epicanthus, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Morning glory an... OMIM:614424
Congenital Myopathy 19
Cryptorchidism, Gait disturbance, Scoliosis, Ptosis OMIM:618578
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis, Frequent falls ORPHA:75840
Ruvalcaba Syndrome
Retinal dystrophy, Kyphosis, Cryptorchidism, Scoliosis, Downslanted palpebral fissures OMIM:180870
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Epicanthus, Ataxia, Tonic seizure, Rigidity, Cryptorch... OMIM:300260
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, Tetraplegia, Pseu... OMIM:616586
Wieacker-Wolff Syndrome
Dystonia, Hyperlordosis, Short neck, Kyphosis, Upslanted palpebral fissure, Scoliosis, Apraxia, O... OMIM:314580
Char Syndrome
Thick eyebrow, Highly arched eyebrow, Ptosis OMIM:169100
Valinemia
Hyperkinetic movements OMIM:277100
Sclerosteosis
Optic atrophy, Facial palsy, Ptosis ORPHA:3152
Congenital Myopathy 4A, Autosomal Dominant
Failure to thrive, Lumbar hyperlordosis, Scoliosis, Ptosis OMIM:255310
Ataxia-Telangiectasia
Conjunctival telangiectasia, Female hypogonadism, Ataxia, Tremor, Inability to walk, Slurred spee... OMIM:208900
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Pure Mitochondrial Myopathy
Waddling gait, Lumbar hyperlordosis, Fatigable weakness of bulbar muscles, Bilateral ptosis, Fati... ORPHA:254854
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Seizure, Ataxia, Myoclonus OMIM:619167
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis, Synophrys, Long eyelashes, Thick eyebrow OMIM:616455
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Progressive spasticity, Ptosis OMIM:619972
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Cerebellar atrophy, Hypergonadotropic hypogonadism, Spinal rigidi... ORPHA:352447
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Ptosis, Decreased miniature en... OMIM:605809
Holocarboxylase Synthetase Deficiency
Keratoconjunctivitis, Ataxia, Weight loss ORPHA:79242
D-Glyceric Aciduria
Seizure, Chorea, Myoclonus, Spasticity ORPHA:941
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Kyphosis, Seizure, Waddling gait OMIM:618138
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Tremor, Inability... OMIM:218000
Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Obesity... ORPHA:261
Takenouchi-Kosaki Syndrome
Cerebellar atrophy, Ataxia, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Synophrys, Opt... OMIM:616737
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Obesity... ORPHA:98853
Chromosome 2P16.1-P15 Deletion Syndrome
Epicanthus, Telecanthus, Optic nerve hypoplasia, Kyphoscoliosis, Hypoplasia of the pons, Cryptorc... OMIM:612513
Orofaciodigital Syndrome Xvi
Ataxia, Inability to walk, Oculomotor apraxia, Retinopathy, Short palpebral fissure, Ptosis OMIM:617563
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy, Kyphosis, Scoliosis OMIM:618234
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status... OMIM:612949
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness, Congenital ptosis OMIM:254190
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Kyphosis, Gait disturbance, Scoliosis ORPHA:2181
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dyston... OMIM:617710
Houge-Janssens Syndrome 1
Ptosis, Downslanted palpebral fissures, Scoliosis, Gait ataxia OMIM:616355
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Seizure, Hyperkinetic movements, Scoliosis, Truncal ataxia, Difficulty walking ORPHA:369847
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypergonadotropic hyp... OMIM:212065
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cryptorchidism, Abnormal autonomic nervous system physiology, Myoclonus ORPHA:168593
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Chorea, Spasticity, Ptosis OMIM:620149
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Ataxia, Ptosis OMIM:619046
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Scoliosis, Decreased body weight OMIM:278760
Freeman-Sheldon Syndrome
Failure to thrive, Downslanted palpebral fissures, Scoliosis, Ptosis ORPHA:2053
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Epicanthus, Telecanthus, Facial palsy, Optic nerve hypoplasia, Blepharophi... ORPHA:261349
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Cerebellar atrophy, Dystonia, Ataxia, Hyperlordosis, Tremor, Inabi... OMIM:615356
Cornelia De Lange Syndrome 5
Telecanthus, Highly arched eyebrow, Short neck, Cryptorchidism, Synophrys, Seizure, Hypogonadism,... OMIM:300882
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, White eyelashes, Aganglionic megacolon, Ataxia,... OMIM:609136
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Ptosis, Abnormal cranial nerve morphology OMIM:258470
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Statu... OMIM:301072
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Highly arched eyebrow... OMIM:615476
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Choreoathetosis, Seizur... ORPHA:391428
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... OMIM:168601
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Chorioretinal coloboma, Ptosis ORPHA:1473
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Abnormality of the palpebral fissures, Scoliosis, Short neck ORPHA:178148
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Micro Syndrome
Abnormality of retinal pigmentation, Cerebellar vermis hypoplasia, Kyphosis, Cryptorchidism, Abno... ORPHA:2510
Aceruloplasminemia
Abnormal dentate nucleus morphology, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Ak... ORPHA:48818
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity OMIM:618201
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty wal... OMIM:607155
Crouzon Syndrome
Abnormal sacrum morphology, Optic atrophy, Chiari malformation, Conjunctivitis, Cerebellar hypopl... ORPHA:207
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Optic nerve hypoplasia, Cerebellar hyp... OMIM:615280
Nipah Virus Disease
Tremor, Seizure, Myoclonus ORPHA:99825
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Highly arched eyebrow, Synophrys, Seizure... OMIM:617751
Fatal Familial Insomnia
Ataxia, Myoclonus, Weight loss OMIM:600072
Radio-Tartaglia Syndrome
Epicanthus, Ataxia, Highly arched eyebrow, Long eyebrows, Tremor, Synophrys, Obesity, Upslanted p... OMIM:619312
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Ataxia, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Pigmentary retinopathy, Sei... ORPHA:436271
Coffin-Siris Syndrome 5
Thick eyebrow, Seizure, Long eyelashes, Cerebellar hypoplasia, Dandy-Walker malformation, Ptosis OMIM:616938
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Myoclonus OMIM:619609
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Parkinsonism, Sensory ataxia, Seizure, Hypogonadism, Gait distur... OMIM:609286
Combined Oxidative Phosphorylation Deficiency 47
Ptosis, Platyspondyly, Failure to thrive, Short neck OMIM:618958
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Agenesis of cerebellar vermis, Hypoplasia of the pons, Cerebellar hypoplasia,... OMIM:613153
Fibrosis Of Extraocular Muscles, Congenital, 1
Bilateral ptosis, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atroph... OMIM:135700
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Glossopharyngeal Neuralgia
Dysesthesia, Vocal cord paralysis, Weight loss, Chiari type I malformation, Abnormality of the ce... ORPHA:221098
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Hyperkinetic movements ORPHA:397933
Li-Campeau Syndrome
Telecanthus, Cryptorchidism, Seizure, Downslanted palpebral fissures, Thick eyebrow, Ptosis OMIM:619189
Developmental And Epileptic Encephalopathy 2
Multifocal seizures, Generalized-onset seizure, Infantile spasms, Inability to walk, Seizure, Myo... OMIM:300672
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Kyphosis, Head titubation, Optic atrophy, Dys... OMIM:619708
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Oculomotor apraxia, Optic di... ORPHA:1454
Cockayne Syndrome Type 2
Lower limb spasticity, Ataxia, Kyphosis, Cryptorchidism, Gait disturbance, Conjunctivitis, Scolio... ORPHA:90322
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Kyphosis, Short neck OMIM:618393
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Blepharophimosis, Telecanthus, Obesity, Ptosis ORPHA:397973
Bachmann-Bupp Syndrome
Lower limb spasticity, Absent eyebrow, Sparse eyelashes, Large for gestational age, Dysgenesis of... OMIM:619075
Legius Syndrome
Ptosis, Epicanthus, Downslanted palpebral fissures, Short neck OMIM:611431
Coffin-Siris Syndrome 3
Thick eyebrow, Seizure, Long eyelashes, Cerebellar hypoplasia, Scoliosis, Dandy-Walker malformati... OMIM:614608
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Myoclonus OMIM:616398
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Gait ataxia, Seizure, Myoclonus, Lethargy OMIM:618321
Joubert Syndrome 37
Lumbar hyperlordosis, Cerebellar vermis hypoplasia, Obesity, Oculomotor apraxia, Ptosis OMIM:619185
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Ataxia, Photosensitive tonic-clonic seizure, Loss of ability to walk in first... OMIM:300243
Mulibrey Nanism
Cachexia ORPHA:2576
Hadziselimovic Syndrome
Epicanthus, Failure to thrive, Cerebellar hypoplasia, Ptosis OMIM:612946
Schaaf-Yang Syndrome
Thick eyebrow, Kyphosis, Cryptorchidism, Inability to walk, Seizure, Hypogonadism, Scoliosis, Sho... OMIM:615547
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Epicanthus, Tremor, Kyphosis, Synophrys, Upslanted palpebral fissure, Scolios... OMIM:617061
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ptosis OMIM:617069
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Oromotor apraxia, Blepharophimosis, Spasticity, Failure to thrive, Downslanted palpeb... ORPHA:391372
Progressive Hemifacial Atrophy
Seizure, Ptosis ORPHA:1214
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss, Abnormality of the extraocular muscles, Paresthesia, Ptosis ORPHA:298
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis ORPHA:2057
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Arthrogryposis, Distal, Type 3
Epicanthus, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Cryptorchi... OMIM:114300
Hypomelanosis Of Ito
Kyphosis, Epicanthus, Scoliosis OMIM:300337
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Broad-based gait, Hyperlordosis, Kyphosis, Distal sensory impairment, Scoliosis OMIM:181405
Uruguay Faciocardiomusculoskeletal Syndrome
Waddling gait, Kyphoscoliosis, Kyphosis, Synophrys, Difficulty walking, Scoliosis, Downslanted pa... OMIM:300280
Pontocerebellar Hypoplasia Type 7
Epicanthus, Involuntary movements, Olivopontocerebellar hypoplasia, Fatigable weakness of skeleta... ORPHA:284339
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Seizure, Vertebral segmentation defect, Difficulty walking, Scoliosis, Long palpe... ORPHA:531151
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Epicanthus, Tremor, Kyphosis, Synophrys, Congenital ptosis, Gait ataxia, Scoliosis, Slanting of t... ORPHA:476126
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Sacral dimple, Cerebellar vermis hypoplasia, Ataxia, Short neck, Tremor, Kyph... OMIM:300966
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Lathosterolosis
Abnormal thoracic spine morphology, Ptosis, Epicanthus, Seizure, Chiari malformation, Myoclonus, ... ORPHA:46059
Schwartz-Jampel Syndrome, Type 1
Waddling gait, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Coronal cleft... OMIM:255800
Developmental And Epileptic Encephalopathy 72
Inability to walk, Hyperkinetic movements, Infantile spasms OMIM:618374
Prieto Syndrome
Cryptorchidism, Epicanthus, Ptosis OMIM:309610
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cerebellar atrophy, Epicanthus, Cryptorchidism, Upslanted palpebral fissure, Seizure, Scoliosis, ... OMIM:618659
Ververi-Brady Syndrome
Unsteady gait, Upslanted palpebral fissure, Scoliosis, Intention tremor, Ptosis OMIM:617982
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure,... ORPHA:1934
Richieri-Costa/Guion-Almeida Syndrome
Gait ataxia, Eyelid coloboma, Spina bifida occulta, Downslanted palpebral fissures, Ptosis OMIM:268850
Early-Onset Lafora Body Disease
Seizure, Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Craniosynostosis 6
Cerebellar atrophy, Scoliosis, Spina bifida occulta, Dandy-Walker malformation, Ptosis OMIM:616602
X-Linked Intellectual Disability, Snyder Type
Unilateral ptosis, Involuntary movements, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Cryptorchidis... ORPHA:3063
9P13 Microdeletion Syndrome
Epicanthus, Highly arched eyebrow, Hand tremor, Myoclonus, Scoliosis, Thick eyebrow ORPHA:324313
Subependymal Nodular Heterotopia
Focal-onset seizure, Seizure, Focal aware seizure, Limb myoclonus, Acroparesthesia ORPHA:101030
Coach Syndrome 1
Optic disc pallor, Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellar ver... OMIM:216360
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Small for gestational age, Scoliosis OMIM:618484
Meckel Syndrome, Type 10
Dilated fourth ventricle, Sacral dimple, Epicanthus, Seizure, Narrow palpebral fissure, Cerebella... OMIM:614175
47,Xyy Syndrome
Male infertility, Macroorchidism, Cryptorchidism, Oligozoospermia, Azoospermia, Seizure, Dysgenes... ORPHA:8
Alexander Disease
Ataxia, Clonus, Hyperlordosis, Short neck, Kyphosis, Chorea, Tremor, Abnormal pyramidal sign, Tet... ORPHA:58
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Dyst... ORPHA:411602
Stiff-Person Syndrome
Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Opisthotonus, Myoclonic spasms, Fre... OMIM:184850
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Short neck, Spastic tetraplegia, Hyperesthesia, Scoliosis, Severe failure to thrive, Do... ORPHA:371364
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Toxin-Mediated Infectious Botulism
Ptosis, Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Optic atrophy, Seizure, Status epilepticus, Spasticity, Ptosis OMIM:616239
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Facial palsy, Fatigable weakness of neck muscles, Scoliosis, Fatigable w... ORPHA:98913
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Seizure, Myoclonus OMIM:300673
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Seizure, Hypertonia, Cerebellar hypoplasia, Ptosis OMIM:615351
Clark-Baraitser syndrome
Kyphosis, Downslanted palpebral fissures, Obesity, Scoliosis OMIM:300602
Baraitser-Winter Syndrome 2
Telecanthus, Highly arched eyebrow, Short neck, Long palpebral fissure, Ptosis OMIM:614583
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Incoordination, Ataxia, Short neck, Cryptorchidism, Upslanted palpebral fissure, Hori... ORPHA:369891
Rhabdoid Tumor
Hemiplegia, Cerebral palsy, Weight loss ORPHA:69077
Cluster Headache, Familial
Ptosis OMIM:119915
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Seizure, Optic atrophy, Ptosis ORPHA:44
Refsum Disease
Abnormality of retinal pigmentation, Ataxia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Ret... ORPHA:773
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Ptosis, Fatigable weakness of skeletal muscles OMIM:616324
Ascher Syndrome
Blepharophimosis, Ptosis, Upper eyelid edema, Abnormal eyelid morphology ORPHA:1253
Rhyns Syndrome
Rod-cone dystrophy, Ptosis ORPHA:140976
Frontoocular Syndrome
Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:605321
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Acquired Hypertrichosis Lanuginosa
Abnormal eyelid morphology, Abnormal eyebrow morphology, Weight loss ORPHA:2221
Combined Oxidative Phosphorylation Deficiency 57
Seizure, Bull's eye maculopathy, Myoclonus OMIM:620167
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Myasthenic Syndrome, Congenital, 22
Waddling gait, Ptosis OMIM:616224
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Congenital Disorder Of Deglycosylation 1
Ptosis, Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Myoclonic seizure, Seizure,... OMIM:615273
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Fatigable weakness, Facial palsy, Ptosis OMIM:616313
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Ptosis ORPHA:2522
Marden-Walker Syndrome
Epicanthus, Short neck, Cryptorchidism, Kyphosis, Seizure, Cerebellar hypoplasia, Scoliosis, Blep... OMIM:248700
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis ORPHA:3038
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Babinski sign, Prominent eyelashes, Upslanted palpebral fissure, Seizure, Hype... OMIM:616420
Subaortic Stenosis-Short Stature Syndrome
Epicanthus, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:3191
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Wieacker-Wolff Syndrome, Female-Restricted
Facial palsy, Short neck, Kyphosis, Inability to walk, Scoliosis, Oculomotor apraxia, Spasticity,... OMIM:301041
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Retinal dystrophy, Peripheral retinal de... ORPHA:168549
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Highly arched eyebrow, Scoliosis, Abnormal vertebral morphology, Dan... ORPHA:2319
Developmental And Epileptic Encephalopathy 101
Seizure, Myoclonus, Opisthotonus OMIM:619814
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Optic atrophy, Aplasia/Hypoplasia of the cerebellum, Spina bifida occulta, Ptosis ORPHA:1185
Arachnoid Cyst
Back pain, Facial palsy, Abnormal cerebellum morphology, Cranial nerve compression, Paraparesis, ... ORPHA:2356
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Palpebral edema, Ptosis ORPHA:1259
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Shashi-Pena Syndrome
Ptosis, Epicanthus, Highly arched eyebrow, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Cervic... OMIM:617190
Hyperekplexia 1
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures OMIM:149400
Trisomy 13
Abnormal retinal vascular morphology, Kyphosis, Cryptorchidism, Abnormal eyelash morphology, Opti... ORPHA:3378
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis, Weight loss OMIM:188580
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Scoliosis ORPHA:1548
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Fatigable weakness, Facial palsy, Ptosis OMIM:608931
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Failure to thrive ORPHA:536516
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents, Ptosis OMIM:601462
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Highl... OMIM:619124
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Deafness, X-Linked 7
Telecanthus, Thick eyebrow, Ptosis OMIM:301018
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ptosis OMIM:617070
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Seizure, Hypertonia, Gait disturbance, Hyperkinetic movements, Lethargy OMIM:236270
Melas
Abnormal central motor function, Hypogonadotropic hypogonadism, Ataxia, Bilateral tonic-clonic se... ORPHA:550
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure... OMIM:301069
Bruck Syndrome 1
Kyphosis, Vertebral wedging, Platyspondyly, Scoliosis, Pterygium OMIM:259450
Amyotrophy, Hereditary Neuralgic
Epicanthus, Upslanted palpebral fissure, Brachial plexus neuropathy, Blepharophimosis, Ptosis OMIM:162100
Kallmann Syndrome
Dyspareunia, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Decreased fertility, ... ORPHA:478
Immunodeficiency 23
Somatic sensory dysfunction, Ataxia, Myoclonus, Scoliosis, Cortical myoclonus OMIM:615816
Oculopharyngodistal Myopathy 2
Ptosis OMIM:618940
Alg1-Cdg
Cerebellar atrophy, Kyphosis, Seizure, Scoliosis ORPHA:79327
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:619989
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss ORPHA:312
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Coffin-Siris Syndrome 2
Thick eyebrow, Cryptorchidism, Seizure, Long eyelashes, Cerebellar hypoplasia, Dandy-Walker malfo... OMIM:614607
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis... ORPHA:502423
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Cone/cone-rod dystrophy, Somatic sensory dysfunction, Ataxia, Babinski sign, ... ORPHA:94147
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Retinal detachment, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypo... OMIM:183900
Wilson Disease
Back pain, Increased body weight, Clumsiness, Weight loss, Difficulty walking, Failure to thrive ORPHA:905
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ptosis ORPHA:83619
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Epicanthus, Telecanthus, Abnormal auditory evoked potentials, Kyphoscoliosis,... OMIM:193700
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Epicanthus, Kyphosis, Optic atrophy, Abnormal form of the ve... ORPHA:192
Moynahan Syndrome
Cachexia ORPHA:2574
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:94080
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Upslanted palpebral fissure, Ocular albinism, Myoclonus, Blepharophimosis ORPHA:1352
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Abnormal retinal morphology on macular OCT, Seizure, Myoclonus, Macular dystr... ORPHA:251004
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Farber Disease
Infantile spasms, Paraparesis, Macular degeneration, Seizure, Abnormal conjunctiva morphology, My... ORPHA:333
15Q24 Microdeletion Syndrome
Epicanthus, Small for gestational age, Kyphosis, Obesity, Scoliosis, Failure to thrive, Downslant... ORPHA:94065
Baraitser-Winter Syndrome 1
Epicanthus, Highly arched eyebrow, Short neck, Cryptorchidism, Seizure, Chorioretinal coloboma, L... OMIM:243310
Perlman Syndrome
Epicanthus, Cryptorchidism, Seizure, Status epilepticus, Ptosis ORPHA:2849
Myopathy, Centronuclear, 1
Ptosis, Hyperlordosis OMIM:160150
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epileptic... OMIM:203700
Urban-Rogers-Meyer Syndrome
Epicanthus, Short neck, Kyphosis, Obesity, Upslanted palpebral fissure ORPHA:3409
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo... ORPHA:93314
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Congenital Myopathy 22A, Classic
Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Synophrys, Bilateral ptosis, Scolio... OMIM:620351
Whipple Disease
Ataxia, Abnormal pyramidal sign, Seizure, Myoclonus, Erectile dysfunction ORPHA:3452
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Epicanthus, Hemidystonia, Tremor, Obesity, Upslanted palpebral fissu... OMIM:619680
Trisomy 20P
Epicanthus, Incoordination, Highly arched eyebrow, Short neck, Blepharophimosis, Kyphosis, Crypto... ORPHA:261318
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Purpura Simplex
Menorrhagia, Ptosis OMIM:179000
Peripheral Primitive Neuroectodermal Tumor
Back pain, Abnormal thoracic spine morphology, Somatic sensory dysfunction, Torticollis, Weight l... ORPHA:370348
3Mc Syndrome
Ptosis, Telecanthus, Highly arched eyebrow, Hyperlordosis, Prominent coccyx, Scoliosis, Blepharop... ORPHA:293843
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Seizure, Hypertonia, Myoclonus, Spast... OMIM:618426
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Kyphosis, Cryptorchidism, Bilateral ptosis, Upslanted palpebral fissure, S... ORPHA:404440
Kearns-Sayre Syndrome
Pigmentary retinopathy, Seizure, Ataxia, Ptosis OMIM:530000
Leigh Syndrome
Cerebellar atrophy, Ataxia, Involuntary movements, Infantile spasms, Chorea, Optic atrophy, Spast... ORPHA:506
Kinsship Syndrome
Sacral dimple, Bilateral tonic-clonic seizure, Spastic tetraparesis, Short neck, Focal-onset seiz... OMIM:619297
Joubert Syndrome 5
Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Retinal colob... OMIM:610188
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Large for gestational age, Hyperlordosis, Kyphosis, Sparse eyebrow, Gait atax... OMIM:617011
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Tip-toe gait, Gait d... ORPHA:98855
Kury-Isidor Syndrome
Sacral dimple, Short neck, Exudative vitreoretinopathy, Seizure, Scoliosis, Downslanted palpebral... OMIM:619762
Dworschak-Punetha Neurodevelopmental Syndrome
Optic disc hypoplasia, Short neck, Seizure, Sparse lateral eyebrow, Ptosis OMIM:619955
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Abetalipoproteinemia
Impaired vibratory sensation, Abnormality of retinal pigmentation, Broad-based gait, Ataxia, Kyph... ORPHA:14
Noonan Syndrome 8
Epicanthus, Large for gestational age, Short neck, Failure to thrive, Downslanted palpebral fissu... OMIM:615355
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Sifrim-Hitz-Weiss Syndrome
Epicanthus, Hypogonadotropic hypogonadism, Cryptorchidism, Upslanted palpebral fissure, Fused cer... OMIM:617159
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis, Abnormal optic nerve morphology, Hypopigmentation of the fundus ORPHA:77300
Brain-Lung-Thyroid Syndrome
Incoordination, Ataxia, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Falls, Myoclo... ORPHA:209905
Myasthenic Syndrome, Congenital, 24, Presynaptic
Oculomotor apraxia, Ptosis OMIM:618198
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Seizure, Myoclonus, Myoclonic seizure OMIM:614946
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Ptosis, Spinal rigidity OMIM:608423
Fazio-Londe Disease
Ptosis OMIM:211500
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis ORPHA:330054
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Waddling gait, Ptosis, Ataxia, Kyphoscoliosis, Spinal rigidity, F... ORPHA:98914
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Waddling gait, Ptosis, Ataxia, Kyphoscoliosis, Spinal rigidity, F... ORPHA:590
Fetal Trimethadione Syndrome
Epicanthus, Synophrys, Scoliosis, Ptosis ORPHA:1913
Niemann-Pick Disease Type C
Speech apraxia, Lower limb spasticity, Generalized-onset seizure, Ataxia, Tremor, Focal-onset sei... ORPHA:646
Primary Ciliary Dyskinesia
Male infertility, Rod-cone dystrophy, Abnormal sperm motility, Female infertility ORPHA:244
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Ptosis OMIM:613561
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Ptosis ORPHA:1154
Combined Oxidative Phosphorylation Deficiency 11
Seizure, Tongue fasciculations, Lethargy, Myoclonus OMIM:614922
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis ORPHA:228396
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Ptosis, Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Short neck OMIM:616549
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Seizure, Gait disturbance, Sc... OMIM:620098
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Spinal rigidity, Kyphosis, Scoliosis, Failure to thrive, Slender build OMIM:254090
Intellectual Developmental Disorder, Autosomal Dominant 34
Epicanthus, Broad-based gait, Bilateral tonic-clonic seizure, Bilateral ptosis, Synophrys, Upslan... OMIM:616351
Myasthenic Syndrome, Congenital, 20, Presynaptic
Facial palsy, Kyphosis, Fatigable weakness, Scoliosis, Ptosis OMIM:617143
Foxg1 Syndrome Due To 14Q12 Microdeletion
Epicanthus, Palpebral edema, Kyphosis, Scoliosis, Blepharophimosis, Downslanted palpebral fissures ORPHA:261144
Eosinophilic Fasciitis
Paresthesia, Weight loss ORPHA:3165
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis, Pterygium ORPHA:2771
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... ORPHA:306674
Terminal Osseous Dysplasia
Upslanted palpebral fissure, Epicanthus, Telecanthus, Ptosis OMIM:300244
Chromosome 5Q12 Deletion Syndrome
Sacral dimple, Epicanthus, Short neck, Long palpebral fissure, Decreased body mass index, Ptosis OMIM:615668
Lateral Meningocele Syndrome
Epicanthus, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral b... ORPHA:2789
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Telecanthus, Gait disturbance, Cachexia ORPHA:2774
Infantile Sialic Acid Storage Disease
Epicanthus, Failure to thrive, Ptosis OMIM:269920
Ruvalcaba Syndrome
Kyphosis, Cryptorchidism, Seizure, Scoliosis, Abnormal vertebral epiphysis morphology, Downslante... ORPHA:3121
Spondyloepiphyseal Dysplasia Congenita
Back pain, Retinal detachment, Abnormally ossified vertebrae, Lumbar hyperlordosis, Waddling gait... ORPHA:94068
Ring Chromosome 10 Syndrome
Downslanted palpebral fissures, Cachexia, Short neck ORPHA:1438
Serotonin Syndrome
Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus, Abnormality of the autonomic nervous sy... ORPHA:43116
Aredyld Syndrome
Upslanted palpebral fissure, Cachexia, Aplasia/Hypoplasia of the eyebrow, Scoliosis ORPHA:1133
Fountain Syndrome
Epicanthus, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida o... ORPHA:3219
12Q14 Microdeletion Syndrome
Tremor, Synophrys, Chiari malformation, Scoliosis, Failure to thrive, Thick eyebrow ORPHA:94063
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Kyphosis, Failure to thrive, Short neck OMIM:608776
Crisponi Syndrome
Kyphosis, Hypertonia, Scoliosis ORPHA:1545
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Autosomal Recessive Multiple Pterygium Syndrome
Epicanthus, Telecanthus, Multiple pterygia, Abnormal eyelid morphology, Spina bifida occulta, Ant... ORPHA:2990
Renpenning Syndrome
Upslanted palpebral fissure, Epicanthus, Thin eyebrow, Cachexia ORPHA:3242
Monosomy 18P
Epicanthus, Generalized dystonia, Kyphoscoliosis, Short neck, Ptosis ORPHA:1598
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Spasticity, Seizure, Hypoplasia of the retina, Retinal dysplasia,... OMIM:253280
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Emanuel Syndrome
Sacral dimple, Hooded eyelid, Kyphoscoliosis, Cryptorchidism, Upslanted palpebral fissure, Seizur... ORPHA:96170
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Retinal dystrophy, Kyphosis, Seizure, Rod-cone dystrophy ORPHA:261222
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Intellectual Developmental Disorder, Autosomal Dominant 42
Cerebral palsy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic... OMIM:616973
Congenital Ptosis
Congenital Horner syndrome, Unilateral ptosis, Telecanthus, Premature ovarian insufficiency, Cong... ORPHA:91411
Stickler Syndrome, Type I
Retinal detachment, Kyphosis, Platyspondyly, Vitreoretinopathy, Membranous vitreous appearance, R... OMIM:108300
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Sparse eyebrow, Kyphosis, Gait a... ORPHA:457359
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... ORPHA:268943
Oculopharyngodistal Myopathy 1
Ataxia, Tremor, Bilateral ptosis, Weight loss, Difficulty walking, Ptosis OMIM:164310
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Ptosis, Scoliosis, Hyperlordosis ORPHA:2511
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168600
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Lower limb spasticity, Spasticity, Spastic paraplegia, Ptosis ORPHA:2824
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hemiplegia/hemiparesis, Seizure, Eyelid coloboma, Cerebellar hypoplasia, Abnormal... ORPHA:1647
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Xia-Gibbs Syndrome
Upslanted palpebral fissure, Retrocerebellar cyst, Failure to thrive, Downslanted palpebral fissu... OMIM:615829
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Autoimmune Hypoparathyroidism
Conjunctivitis, Myoclonic spasms, Paresthesia, Hypocalcemic seizures ORPHA:36913
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia ORPHA:683
Myopathy, Myofibrillar, 8
Ptosis, Frequent falls, Scoliosis, Spinal rigidity OMIM:617258
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Ptosis, Multiple pterygia, Short neck, Hemivertebrae, Antecubital pterygium, Po... OMIM:178110
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Fasciculations, Cerebellar hypoplasia, ... OMIM:620327
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Ataxia, Optic atrophy, Pigmentary retinopathy, Seizure, Truncal ataxia, Ptosis OMIM:220110
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Sacral dimple, Sparse eyelashes, Bilateral cryptorchidism, Absent eyelashes, Spar... ORPHA:544488
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Ptosis, Levator palpebrae superioris atrophy, Congenital fibrosis of extraocular muscles, Superio... OMIM:600638
Intellectual Developmental Disorder, Autosomal Dominant 57
Epicanthus, Telecanthus, Kyphosis, Upslanted palpebral fissure, Tip-toe gait, Scoliosis, Blepharo... OMIM:618050
Synaptic Congenital Myasthenic Syndromes
Waddling gait, Facial palsy, Bilateral ptosis, Prolonged miniature endplate currents, Abnormal sy... ORPHA:98915
Noonan Syndrome 13
Epicanthus, Generalized-onset seizure, Infantile spasms, Short neck, Highly arched eyebrow, Crypt... OMIM:619087
Noonan Syndrome 11
Downslanted palpebral fissures, Ptosis OMIM:618499
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Seizure, Spasticity, Myoclonus OMIM:246450
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Stickler Syndrome, Type Vi
Downslanted palpebral fissures, Ptosis OMIM:620022
Craniosynostosis 3
Ptosis OMIM:615314
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Unsteady gait, Gait ataxia, Downslanted palpebral fissures, Ptosis OMIM:618109
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Downslanted palpebral fissures, Scoliosis ORPHA:137834
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Noonan Syndrome 5
Epicanthus, Large for gestational age, Sparse eyebrow, Short neck, Downslanted palpebral fissures... OMIM:611553
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Hypertonia, Gait disturbance, Poor hand-eye coordination, Dysto... OMIM:300352
Hartsfield Syndrome
Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:2117
Aarskog-Scott Syndrome
Epicanthus, Short neck, Cryptorchidism, Downslanted palpebral fissures, Abnormal vertebral segmen... ORPHA:915
Frias Syndrome
Downslanted palpebral fissures, Ptosis OMIM:609640
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Meningioma
Back pain, Papilledema, Hemifacial spasm, Abnormal central motor function, Hypogonadotropic hypog... ORPHA:2495
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia, Ptosis ORPHA:3217
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Facial palsy, Seizure, Long eyelashes, Ptosis OMIM:606407
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Ataxia, Facial palsy, Tremor, Rigidity, Gait ataxia, Cogwheel... ORPHA:254892
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Upslanted palpebral fissure, Synophrys, Bilateral tonic-clonic seizure, Ptosis OMIM:616083
Megalocornea-Intellectual Disability Syndrome
Epicanthus, Ataxia, Kyphosis, Scoliosis, Downslanted palpebral fissures ORPHA:2479
Nmda Receptor Encephalitis
Orthostatic hypotension, Generalized-onset seizure, Involuntary movements, Orthostatic tachycardi... ORPHA:217253
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Downslanted palpebral fissures, Ptosis ORPHA:638
Waardenburg Syndrome Type 1
Telecanthus, White eyelashes, White eyebrow, Synophrys, Scoliosis, Thick eyebrow, Ptosis ORPHA:894
Noonan Syndrome 4
Epicanthus, Large for gestational age, Sparse eyebrow, Short neck, Bilateral ptosis, Scoliosis, D... OMIM:610733
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Ptosis ORPHA:2229
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormal eyelid morphology, Abnorma... ORPHA:193
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Blepharophimosis, Synophrys, Thick eyebrow, Ptosis OMIM:210745
Bone Dysplasia, Lethal Holmgren Type
Weight loss, Failure to thrive, Short neck ORPHA:1842
Reni Syndrome
Ataxia, Cryptorchidism, Seizure, Hypogonadism, Ptosis OMIM:617575
3C Syndrome
Short neck, Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis, Chorioretinal coloboma, Aplasia/Hy... ORPHA:7
Smith-Mccort Dysplasia 1
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... OMIM:607326
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... ORPHA:572798
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Large for gestational age OMIM:618272
Distal Duplication 6P
Sacral dimple, Short neck, Abnormal eyelash morphology, Blepharophimosis, Ptosis ORPHA:1745
Prolactinoma
Dyspareunia, Ptosis, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism,... ORPHA:2965
Cleft Palate-Large Ears-Small Head Syndrome
Ptosis ORPHA:2013
19P13.12 Microdeletion Syndrome
Epicanthus, Aplasia/Hypoplasia of the cerebellar vermis, Short neck, Cryptorchidism, Kyphosis, Sy... ORPHA:254346
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Short neck, ... ORPHA:485
Congenital Myopathy 5 With Cardiomyopathy
Scoliosis, Ptosis OMIM:611705
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Follicular Lymphoma
Weight loss ORPHA:545
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Lower limb hypertonia, ... OMIM:619487
Baraitser-Winter Cerebrofrontofacial Syndrome
Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Short neck, Optic disc coloboma,... ORPHA:2995
Mucopolysaccharidosis, Type Iva
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... OMIM:253000
Focal Myositis
Weight loss ORPHA:48918
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Epicanthus, Telecanthus, Thick eyebrow, Highly arched eyebrow, Generalized non-motor (absence) se... OMIM:617360
Short Stature And Facioauriculothoracic Malformations
Ptosis, Abnormal odontoid process morphology, Short neck OMIM:609654
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Seizure, Myoclonus OMIM:614462
Fucosidosis
Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa... ORPHA:349
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Cachexia ORPHA:42
Atelis Syndrome 2
Sacral dimple, Epicanthus, Remnants of the hyaloid vascular system, Kyphosis, Dysmetria, Vitreous... OMIM:620185
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Almond-shaped palpebral fissure, Kyphosis, Cryptorchidism, Primar... ORPHA:398069
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus, Scoliosis OMIM:619055
Codas Syndrome
Epicanthus, Abnormal form of the vertebral bodies, Coronal cleft vertebrae, Scoliosis, Ptosis ORPHA:1458
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ptosis, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Pleural Mesothelioma
Weight loss ORPHA:50251
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Noonan Syndrome 9
Sparse eyebrow, Ptosis, Downslanted palpebral fissures, Short neck OMIM:616559
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Mast Cell Sarcoma
Weight loss ORPHA:66661
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Epicanthus, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hyp... ORPHA:2916
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Seizure, Blepharophimosis, Cervical C2/C3 vertebral fusion, Downslanted palpebral fissures, Ptosis OMIM:617333
Okur-Chung Neurodevelopmental Syndrome
Epicanthus, Ataxia, Highly arched eyebrow, Synophrys, Scoliosis, Epicanthus inversus, Failure to ... OMIM:617062
Cono-Spondylar Dysplasia
Short neck, Kyphosis, Poor coordination, Scoliosis, Failure to thrive ORPHA:420794
Wolf-Hirschhorn Syndrome
Sacral dimple, Epicanthus, Ataxia, Highly arched eyebrow, Kyphosis, Cryptorchidism, Optic atrophy... ORPHA:280
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Seizure, Broad-based gait, Optic atrophy, Ptosis OMIM:609037
Frontofacionasal Dysplasia
Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner eyelashes, Apl... ORPHA:1791
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Multiple Pterygium Syndrome, Escobar Variant
Epicanthus, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Bilateral ptosis, Neck... OMIM:265000
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Seizure, Myoclonus, Lethargy, Spasticity ORPHA:20
Iatrogenic Botulism
Ptosis, Cerebral palsy, Diaphragmatic paralysis ORPHA:254509
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Ptosis, Vertebral segmentation defect, Scoliosis, Hyperlordosis ORPHA:1323
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Long palpebral fissure, Kyphosis, Thoracic scoliosis, Ptosis OMIM:603387
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Joubert Syndrome 21
Ataxia, Optic atrophy, Megalopapilla, Seizure, Oculomotor apraxia, Elongated superior cerebellar ... OMIM:615636
Cockayne Syndrome
Progressive gait ataxia, Retinal arteriolar constriction, Hypertonia, Retinal degeneration, Inten... ORPHA:191
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Ptosis OMIM:619465
Cowden Syndrome 1
Dysplastic gangliocytoma of the cerebellum, Kyphosis, Angioid streaks of the fundus, Hydrocele te... OMIM:158350
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Cerebellar vermis hypoplasia, Kyphosis, Cerebellar hypoplasia, Scoliosis, Spina bi... OMIM:618291
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, H... ORPHA:468631
Wound Botulism
Ptosis, Cerebral palsy, Diaphragmatic paralysis ORPHA:178475
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Epicanthus, Lumbar hyperlordosis, Ataxia, Abnormal location of the eyebrow, Almond-shaped palpebr... ORPHA:522077
Waardenburg Syndrome Type 2
Telecanthus, Ptosis ORPHA:895
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Microphthalmia, Lenz Type
Hyperlordosis, Kyphosis, Cryptorchidism, Optic disc coloboma, Ankyloblepharon, Seizure, Scoliosis... ORPHA:568
Congenital Myopathy 1B, Autosomal Recessive
Facial palsy, Scoliosis, Ptosis OMIM:255320
Arthrogryposis, Distal, Type 4
Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis OMIM:609128
Weaver Syndrome
Epicanthus, Bilateral tonic-clonic seizure, Kyphosis, Cryptorchidism, Slurred speech, Generalized... OMIM:277590
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Seizure, Platyspondyly, Downslanted palpebral fis... ORPHA:2655
Rett Syndrome, Congenital Variant
Dystonia, Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity OMIM:613454
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Epicanthus, Retinal dystrophy, Chorioret... ORPHA:2526
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Facial palsy, Hyperlordosis, Downslanted palpebral fissures, Ptosis ORPHA:3068
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Scoliosis, Downslanted palpebral fissures ORPHA:236
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Synophrys, Hypogonadism, Spina bifida occulta ORPHA:2983
Non-Functioning Pituitary Adenoma
Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo... ORPHA:91349
Tick-Borne Encephalitis
Back pain, Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Ge... ORPHA:297
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal sacroiliac joint morphology, Abnormal vertebral morphology, Scoliosis, Weight loss ORPHA:324964
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Seizure, Hypertonia, Scoliosis, Cherry red sp... OMIM:230500
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Blepharophimosis, Epicanthus, Ptosis ORPHA:3236
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Cryptorchidism, Kyphosis, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow ORPHA:3082
Emanuel Syndrome
Sacral dimple, Torticollis, Kyphosis, Upslanted palpebral fissure, Scoliosis, Failure to thrive, ... OMIM:609029
Erdheim-Chester Disease
Ataxia, Abnormal cerebellum morphology, Weight loss, Xanthelasma, Ptosis ORPHA:35687
Mucopolysaccharidosis, Type Ivb
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat... OMIM:253010
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Weight loss ORPHA:142
Arthrogryposis, Distal, Type 5D
Highly arched eyebrow, Hyperlordosis, Lagophthalmos, Short neck, Scoliosis, Ptosis OMIM:615065
Lateral Meningocele Syndrome
Vertebral fusion, Telecanthus, Short neck, Kyphosis, Cryptorchidism, Chiari type I malformation, ... OMIM:130720
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Epicanthus, Retinal dystrophy, Bilateral tonic-clonic seizure, Tonic seizure, Hypoplasia of the p... OMIM:619512
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Cachexia, Scoliosis, Ptosis ORPHA:1969
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Seizure, Hypogonadism, Blepharophimosis, Decreased testicular size, Thick eyebrow... ORPHA:127
Chromosome 17P13.1 Deletion Syndrome
Sacral dimple, Epicanthus, Telecanthus, Highly arched eyebrow, Short neck, Synophrys, Ankle clonu... OMIM:613776
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic disc pallor, Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, ... OMIM:252010
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Unsteady gait, Choreoathetosis, Seizure, Hypertonia, Hyperkinetic movements, Myoclonus, Ptosis ORPHA:17
Pgm3-Cdg
Ataxia, Narrow palpebral fissure, Seizure, Myoclonus, Cortical myoclonus ORPHA:443811
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Unilateral ptosis, Opisthotonus, Hypertonia, Severe failure to thrive, Downslanted palpebral fiss... ORPHA:3304
Pfapa Syndrome
Weight loss ORPHA:42642
Congenital Disorder Of Glycosylation, Type Iio
Seizure, Downslanted palpebral fissures, Ptosis OMIM:616828
Saethre-Chotzen Syndrome
Epicanthus, Hyperlordosis, Cryptorchidism, Optic atrophy, Abnormal form of the vertebral bodies, ... ORPHA:794
Holoprosencephaly
Thick eyebrow, Epicanthus, Highly arched eyebrow, Short neck, Blepharophimosis, Cryptorchidism, C... ORPHA:2162
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hand tremor, Weight loss ORPHA:424
Ohdo Syndrome
Epicanthus, Sparse eyebrow, Cryptorchidism, Seizure, Blepharophimosis, Ptosis OMIM:249620
Chromosome 18P Deletion Syndrome
Epicanthus, Small for gestational age, Short neck, Dystonia, Ptosis OMIM:146390
Cowden Syndrome 5
Kyphosis, Angioid streaks of the fundus, Hydrocele testis, Seizure, Scoliosis, Intention tremor OMIM:615108
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Epicanthus, Ataxia, Optic atrophy, Spastic tetraplegia, Seizure, Spasticity, ... OMIM:251300
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Seizure, Hypertonia, Chorioretinal coloboma, Blepharophimosis, Ptosis ORPHA:2031
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Kyphosis, Optic atrophy, Seizure, Progressive spastic qua... ORPHA:521426
Foodborne Botulism
Ptosis, Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
3Mc Syndrome 2
Ptosis, Torticollis, Highly arched eyebrow, Abnormality of the vertebral column, Downslanted palp... OMIM:265050
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Failure to thrive OMIM:169400
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Epicanthus, Optic atrophy, Seizure, Dandy-Walker malformation, Ptosis OMIM:220500
Dermoodontodysplasia
Ptosis, Abnormal eyelid morphology ORPHA:1660
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Kyphosis, Unsteady gait, Optic atrophy, Seizure, Scoliosis OMIM:618493
Juberg-Hayward Syndrome
Highly arched eyebrow, Ptosis OMIM:216100
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Ptosis, Pain insensitivity, Hyperlordosis, Hypoplasia of the odontoid process, Spinal canal steno... OMIM:616007
2Q31.1 Microdeletion Syndrome
Epicanthus, Short neck, Kyphosis, Cryptorchidism, Optic disc coloboma, Synophrys, Seizure, Verteb... ORPHA:251014
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Koolen-De Vries Syndrome
Vertebral fusion, Epicanthus, Kyphosis, Cryptorchidism, Upslanted palpebral fissure, Seizure, Ver... ORPHA:96169
8P23.1 Microdeletion Syndrome
Epicanthus, Short neck, Obesity, Weight loss, Upslanted palpebral fissure, Downslanted palpebral ... ORPHA:251071
Teebi Hypertelorism Syndrome 2
Upper eyelid coloboma, Thick eyebrow, Ptosis OMIM:619736
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic diplegia, Dysmetr... ORPHA:2203
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Congenital bilateral ptosis, Truncal obesity, Failure to thrive, Ptosis ORPHA:73272
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Epicanthus, Lacrimal duct stenosis, Cryptorchidism, Optic atrophy, Seizure, Ptosis ORPHA:457193
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
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Kyphosis, Scoliosis, Spasticity, Downslanted palpebral fissures, Ptosis OMIM:616449
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Clonus, Optic atrophy, Hypertonia, Long eyelashes, Ptosis OMIM:617301
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Generalized dystonia, Scoliosis ORPHA:79107
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Broad-based gait, Kyphoscoliosis, Short neck, Sparse eyebrow, Cryptorchidism, Synophrys, Seizure,... OMIM:309583
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Cerebellar vermis hypoplasia, Infantile spasms, Focal-onset seizure, Parap... ORPHA:98889
Giant Cell Arteritis
Ptosis, Ataxia, Paresthesia, Weight loss ORPHA:397
Kosaki Overgrowth Syndrome
Thoracolumbar scoliosis, Xanthelasma, Scoliosis, Downslanted palpebral fissures, Ptosis OMIM:616592
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Abnormal eyelid morphology, Weight loss, Conjunctivitis, Failure to ... ORPHA:37
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Ptosis OMIM:221320
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Ptosis ORPHA:2868
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Slender build, Ptosis OMIM:603041
Autosomal Dominant Hypocalcemia
Fatigable weakness, Optic atrophy, Paresthesia, Cortical myoclonus ORPHA:428
Gabriele-De Vries Syndrome
Waddling gait, Telecanthus, Tremor, Sparse eyebrow, Epiblepharon, Tip-toe gait, Dystonia, Downsla... OMIM:617557
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Epicanthus, Kyphosis, Synophrys, Bilateral ptosis, Scoliosis OMIM:619557
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Sacral dimple, Ptosis, Epicanthus, Highly arched eyebrow, Short neck, Large for... OMIM:213980
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Narrow palpebral fissure, Macular coloboma, Ptosis OMIM:615145
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Bilateral ptosis, Weight loss, Apraxia, Failure to thrive ORPHA:99885
Ethylene Glycol Poisoning
Ataxia, Facial palsy, Slurred speech, Seizure, Myoclonus ORPHA:31826
Cowden Syndrome 6
Kyphosis, Angioid streaks of the fundus, Hydrocele testis, Seizure, Scoliosis, Intention tremor OMIM:615109
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Ataxia, Abnormal auditory evoked potentials, Decreased nerve... OMIM:216400
Trisomy 17P
Short neck, Hypertonia, Scoliosis, Downslanted palpebral fissures, Broad eyebrow, Ptosis ORPHA:261290
Oculogastrointestinal Muscular Dystrophy
Cachexia, Ptosis ORPHA:1876
Desbuquois Dysplasia 1
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis OMIM:251450
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Ptosis ORPHA:1067
Cardiofaciocutaneous Syndrome 2
Absent eyebrow, Ptosis OMIM:615278
Neutral Lipid Storage Disease With Ichthyosis
Ptosis, Ataxia, Obesity, Difficulty walking, Ectropion ORPHA:98907
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Waddling gait, Optic atrophy, Difficulty walking, Spasticity, Ptosis OMIM:251900
Diastrophic Dysplasia
Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... ORPHA:628
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Jacobsen Syndrome
Epicanthus, Telecanthus, Short neck, Abnormal eyelash morphology, Cryptorchidism, Optic atrophy, ... OMIM:147791
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Babinski sign, Bradykinesia, Dystonia, Failure to thrive, Ptosis OMIM:614924
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Short neck, Cryptorchidism, Pigmentary retinopathy, Downslanted palpebral fissures, S... OMIM:614230
X-Linked Agammaglobulinemia
Failure to thrive, Conjunctivitis, Weight loss ORPHA:47
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Inability to w... OMIM:617799
Beta-Ketothiolase Deficiency
Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss ORPHA:134
Aarskog-Scott Syndrome
Short neck, Hypoplasia of the odontoid process, Cervical spine hypermobility, Scoliosis, Failure ... OMIM:305400
Arthrogryposis Multiplex Congenita 5
Optic disc pallor, Kyphoscoliosis, Short neck, Akinesia, Hand tremor, Upslanted palpebral fissure... OMIM:618947
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Highly arched eyebrow, Kyphosis, Cryptorchidism, Upslanted palpebral fiss... ORPHA:261250
Carey-Fineman-Ziter Syndrome
Epicanthus, Facial palsy, Scoliosis, Aplasia/Hypoplasia of the cerebellum, Downslanted palpebral ... ORPHA:1358
Choreoacanthocytosis
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... ORPHA:2388
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Involuntary movements, Short neck, Choreoathetosis, Paresthesia, ... ORPHA:79443
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... ORPHA:2131
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Alpha-Mannosidosis
Kyphosis, Scoliosis, Short neck ORPHA:61
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Cerebellar atrophy, Ptosis, Highly arched eyebrow, Sparse eyebrow, Synophrys, Optic atrophy, Upsl... ORPHA:487796
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ptosis, Ataxia, Facial palsy, Dysesthesia, Babinski si... ORPHA:79138
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility, Scoliosis, ... ORPHA:2616
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Epileptic spasm, Exaggerated startle response, Broad-based gait, Involuntary m... ORPHA:438213
22Q11.2 Duplication Syndrome
Epicanthus, Seizure, Scoliosis, Downslanted palpebral fissures, Ptosis ORPHA:1727
Distal Deletion 3P
Sacral dimple, Epicanthus, Telecanthus, Short neck, Blepharophimosis, Spasticity, Abnormal vestib... ORPHA:1620
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Abnormally ossified vertebrae, Long eyelashes in irregular rows, Cac... ORPHA:800
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Epicanthus, Obesity, Long eyelashes, Broad lateral eyebrow, Ptosis OMIM:608624
Auriculocondylar Syndrome 2A
Ptosis OMIM:614669
Isolated Complex I Deficiency
Optic disc pallor, Ataxia, Optic neuropathy, Lethargy, Ptosis ORPHA:2609
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ... ORPHA:93360
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Short neck, Kyphosis, Seizure, Ptosis OMIM:309900
Miller Fisher Syndrome
Ataxia, Facial palsy, Paresthesia, Tetraparesis, Ptosis ORPHA:98919
Keipert Syndrome
Epicanthus, Ptosis ORPHA:2662
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Short neck, Paresthesia, Oligomenorrhea, Myoclonic spasms, Conjun... ORPHA:79444
Yao Syndrome
Keratoconjunctivitis sicca, Weight loss OMIM:617321
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Ptosis, Small for gestational age, Epicanthus, Kyphosis, Upslant... OMIM:610443
Listeriosis
Back pain, Somatic sensory dysfunction, Ataxia, Tremor, Hemiparesis, Seizure, Conjunctivitis, Myo... ORPHA:533
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Monosomy 9Q22.3
Epicanthus, Short neck, Kyphosis, Seizure, Abnormality of the vertebral column, Chiari malformati... ORPHA:77301
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Impaired pain sensation, Almond-shaped palpebral fissure, Kyphosis... OMIM:176270
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Irregular vertebral endplates, Seizure, Narrow palpebral fissure, Long palpebral ... ORPHA:439822
Triosephosphate Isomerase Deficiency
Tremor, Kyphosis, Unsteady gait, Dystonia, Spasticity, Failure to thrive OMIM:615512
Rubinstein-Taybi Syndrome
Epicanthus, Telecanthus, Failure to thrive in infancy, Highly arched eyebrow, Nasolacrimal duct o... ORPHA:783
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Ehlers-Danlos Syndrome, Classic-Like, 2
Thoracic scoliosis, Short neck, Bilateral ptosis, Facet joint arthrosis, Thin eyebrow, Cervical C... OMIM:618000
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Long palpebral fissure, Failure to thrive, Sh... OMIM:613026
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol... ORPHA:582
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... OMIM:177170
Phelan-Mcdermid Syndrome
Sacral dimple, Broad-based gait, Epicanthus, Palpebral edema, Impaired pain sensation, Unsteady g... OMIM:606232
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Epicanthus, Downslanted palpebral fissures, Telecanthus, Ptosis ORPHA:1778
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures ORPHA:320406
Muenke Syndrome
Seizure, Downslanted palpebral fissures, Ptosis OMIM:602849
Lynch Syndrome
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Paresthesia, Gait distu... ORPHA:144
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Paresthesia, Myoclonic spasms ORPHA:94090
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Generalized-onset seizure, Rigidity, Kyphosis, Babinski sign, Optic... OMIM:617527
Opsoclonus-Myoclonus Syndrome
Rigidity, Limb myoclonus, Ataxia, Myoclonus ORPHA:1183
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... ORPHA:15
Scorpion Envenomation
Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Paresthesia, Myoclonus, Priapism ORPHA:466677
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Telecanthus, Short neck, Cryptorchidism, Cerebellar hypoplasia, Blepharophimosis, Short palpebral... OMIM:217980
Thrombocytopenia, Paris-Trousseau Type
Ptosis OMIM:188025
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Epicanthus, Lacrimal duct stenosis, Optic nerve hypoplasia, Highly arched eyebrow, Short neck, Cr... OMIM:617506
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Intellectual Developmental Disorder, Autosomal Dominant 29
Generalized-onset seizure, Lumbar hyperlordosis, Hyperlordosis, Cryptorchidism, Synophrys, Seizur... OMIM:616078
Pseudohypoparathyroidism Type 1B
Short neck, Conjunctivitis, Paresthesia, Myoclonic spasms, Hypocalcemic seizures ORPHA:94089
Malignant Atrophic Papulosis
Ptosis, Pain insensitivity, Weight loss ORPHA:679
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Seizure, Facial palsy, Ptosis OMIM:610131
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Upslanted palpebral fissure, Epicanthus inversus, Highly arched eyebrow, Ptosis ORPHA:2988
Goldberg-Shprintzen Megacolon Syndrome
Sparse eyebrow, Seizure, Aganglionic megacolon, Ptosis ORPHA:66629
Kbg Syndrome
Vertebral fusion, Telecanthus, Short neck, Cryptorchidism, Synophrys, Vertebral arch anomaly, Sei... OMIM:148050
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Epicanthus, Thoracolumbar scoliosis, Short neck, Platyspondyly, Scoliosis, Ptosis OMIM:616723
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ptosis ORPHA:663
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Clonus, Ptosis OMIM:619424
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Immunodeficiency 27A
Weight loss OMIM:209950
Fetal Alcohol Syndrome
Epicanthus, Vertebral segmentation defect, Telecanthus, Ptosis ORPHA:1915
Inhalational Botulism
Ptosis, Paralysis ORPHA:254504
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Impaired pain sensation, Kyphosis, Long eyelashes, Scoliosis, Decreased bo... OMIM:619005
Alstrom Syndrome
Cone/cone-rod dystrophy, Hypergonadotropic hypogonadism, Kyphosis, Irregular menstruation, Pigmen... OMIM:203800
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Inability to walk, Hyperkinetic... ORPHA:2912
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Retinal detachment, Scoliosis, Ptosis ORPHA:2712
Cap Polyposis
Weight loss ORPHA:160148
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Riddle Syndrome
Conjunctival telangiectasia, Ataxia, Clumsiness, Weight loss, Gait disturbance, Poor hand-eye coo... ORPHA:420741
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:276621
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Paroxysmal Hemicrania
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:157835
Familial Colorectal Cancer Type X
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Paresthesia, Gait distu... ORPHA:440437
Osteosarcoma
Weight loss ORPHA:668
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Generalized-onset seizure, Increased intervertebral space, H... ORPHA:508533
Sialuria
Neuropathic spinal arthropathy, Seizure, Epicanthus, Hyperkinetic movements ORPHA:3166
Bullous Pemphigoid
Weight loss ORPHA:703
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Sparse eyebrow, Inability to walk, Kyphosis, Seizure, Scoliosis, Difficulty walking, ... ORPHA:464738
Takayasu Arteritis
Weight loss ORPHA:3287
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Retinal dy... OMIM:243910
Cronkhite-Canada Syndrome
Aplasia/Hypoplasia of the eyebrow, Cachexia ORPHA:2930
Arthrogryposis, Distal, Type 1A
Cryptorchidism, Scoliosis, Ptosis OMIM:108120
Frontonasal Dysplasia 1
Epicanthus, Ptosis OMIM:136760
20Q11.2 Microduplication Syndrome
Epicanthus, Sacral dimple, Palpebral edema, Abnormal shape of the palpebral fissure, Lingual dyst... ORPHA:363659
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Hypertonia, Myoclonic... OMIM:252160
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Kyphosis, Unsteady gait, Retinal hemorrhag... ORPHA:90324
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Epicanthus, Short neck, Absent eyelashes, Optic nerve dysplasia, Seizure, Hyperto... OMIM:115150
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... ORPHA:2311
Doors Syndrome
Small cerebellar cortex, Epicanthus, Bilateral tonic-clonic seizure, Bilateral ptosis, Optic atro... ORPHA:79500
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Upslanted palpebral fissure, Cerebellar... OMIM:300967
Pycnodysostosis
Hyperlordosis, Overweight, Kyphosis, Chiari malformation, Spondylolysis, Scoliosis, Upper motor n... ORPHA:763
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Kyphosis, Cryptorchidism, Seizure, Broad eyebrow OMIM:619244
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Celiac Disease, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:212750
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Goldberg-Shprintzen Syndrome
Telecanthus, Highly arched eyebrow, Short neck, Synophrys, Limb hypertonia, Downslanted palpebral... OMIM:609460
Mend Syndrome
Sacral dimple, Kyphosis, Cryptorchidism, Upslanted palpebral fissure, Seizure, Narrow palpebral f... OMIM:300960
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Clonus, Synophrys, Abnormal curvature of the vertebral column, Hypertonia, Intention t... OMIM:619475
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Retinal hemorrhage, Angioid streaks of the fundus, Macular degeneration, Scoliosis OMIM:177850
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Sacral dimple, Epicanthus, Aganglionic megacolon, Hydrocele testis, Seizure, Narrow palpebral fis... OMIM:613603
Autosomal Dominant Centronuclear Myopathy
Ptosis, Difficulty walking, Large for gestational age ORPHA:169189
Phosphoribosylpyrophosphate Synthetase Superactivity
Epicanthus, Small for gestational age, Ataxia, Downslanted palpebral fissures, Ptosis OMIM:300661
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retinal detachment, Abnormal optic chiasm morphology, Sacral dimple, Ataxia, Bilateral tonic-clon... ORPHA:268261
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Downslanted palpebral fissures, Ptosis ORPHA:73246
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial palsy, Cryptorchidism, Facial diplegia, Scoliosis, Ptosis ORPHA:98905
Cenani-Lenz Syndrome
Ptosis, Abnormal form of the vertebral bodies, Scoliosis, Downslanted palpebral fissures, Ectropion ORPHA:3258
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Epicanthus, Short neck, Hypoplasia of the odontoid ... OMIM:253220
Pfeiffer Syndrome
Ptosis, Hyperlordosis, Short neck ORPHA:710
Alveolar Echinococcosis
Low back pain, Ataxia, Weight loss, Hemiparesis, Abnormal vertebral morphology ORPHA:284
Acrofrontofacionasal Dysostosis 2
Sacral dimple, Downslanted palpebral fissures, Ptosis OMIM:239710
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Insulin-Like Growth Factor I Deficiency
Ptosis, Decreased body weight OMIM:608747
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Irregular v... ORPHA:3042
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Highly arched eyebrow, Cryptorchidism, Synophrys, Lower limb hypertonia, Chordee, Downslanted pal... OMIM:616728
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Cardiofaciocutaneous Syndrome
Epicanthus, Short neck, Abnormal eyelash morphology, Cryptorchidism, Optic atrophy, Sparse or abs... ORPHA:1340
Acromelic Frontonasal Dysostosis
Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Ret... OMIM:603671
Cdags Syndrome
Ptosis, Sparse eyelashes, Sparse eyebrow, Kyphosis, Ectropion OMIM:603116
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Generalized... ORPHA:2072
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... OMIM:601104
Igg4-Related Aortitis
Low back pain, Weight loss ORPHA:449400
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Entropion, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow OMIM:609944
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Retinal dystrophy, Bilateral ptosis, Unilateral vocal cord paralysis, Optic atrophy, Long eyelash... ORPHA:324540
Scarf Syndrome
Epicanthus, Short neck, Abnormal form of the vertebral bodies, Downslanted palpebral fissures, Pt... ORPHA:3134
Loeys-Dietz Syndrome 4
Torticollis, Scoliosis, Spondylolisthesis, Downslanted palpebral fissures, Ptosis OMIM:614816
Carey-Fineman-Ziter Syndrome 1
Epicanthus, Facial palsy, Spinal rigidity, Lagophthalmos, Cryptorchidism, Seizure, Scoliosis, Dow... OMIM:254940
Nager Syndrome
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... ORPHA:245
Cole-Carpenter Syndrome
Downslanted palpebral fissures, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Epicanthus, Hemivertebrae, Scoliosis, Downslanted palpebral fissures, Ptosis OMIM:104350
Acromelic Frontonasal Dysplasia
Telecanthus, Cryptorchidism, Retrocerebellar cyst, Seizure, Ptosis ORPHA:1827
Acrofrontofacionasal Dysostosis
Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis ORPHA:1784
Mesomelia-Synostoses Syndrome
Abnormal eyebrow morphology, Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:2496
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Joint contracture OMIM:616881
Chilton-Okur-Chung Neurodevelopmental Syndrome
Ptosis, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Hooded eyelid, Highly arched eyebrow... OMIM:619841
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Seizure ORPHA:93274
19Q13.11 Microdeletion Syndrome
Sparse or absent eyelashes, Failure to thrive, Cachexia, Sparse lateral eyebrow ORPHA:217346
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Failure to thrive in infancy, Increased vertebral ... OMIM:613385
Weiss-Kruszka Syndrome
Epicanthus, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis OMIM:618619
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Retinal capillary hemangioma, Vocal cord paralysis, Weight loss ORPHA:29072
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Chronic Beryllium Disease
Weight loss ORPHA:133
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Hooded eyelid, Highly arched eyebrow, Short neck, Cryptorchidism, Syn... OMIM:610759
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Epicanthus, Bilateral tonic-clonic seizure, Kyphoscoliosis, Kyphosis, Cryptorchidism, Hemivertebr... OMIM:301040
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Male hypogonadism, Scoliosis, Cryptorchidism OMIM:615381
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Somatic sensory dysfunction, Ataxia, Spasticity, Ptosis OMIM:615510
Buratti-Harel Syndrome
Epicanthus, Cryptorchidism, Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis OMIM:619314
Camurati-Engelmann Disease
Waddling gait, Ataxia, Facial palsy, Hyperlordosis, Kyphosis, Optic atrophy, Abnormality of the v... ORPHA:1328
Harrod Syndrome
Kyphosis, Failure to thrive, Scoliosis ORPHA:2115
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Ptosis OMIM:210700
Marshall-Smith Syndrome
Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Highly arched eyebrow, Bilateral cryp... OMIM:602535
3Mc Syndrome 1
Conjunctival telangiectasia, Ptosis, Sacral dimple, Telecanthus, Highly arched eyebrow, Synophrys... OMIM:257920
Acrocraniofacial Dysostosis
Telecanthus, Abnormal form of the vertebral bodies, Spina bifida occulta, Downslanted palpebral f... ORPHA:949
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Azoospermia, Seizure, Decreased testicular size, Ptosis OMIM:300845
Kaposi Sarcoma
Weight loss ORPHA:33276
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Ptosis, Sacral dimple, Generalized-onset seizure, Epicanthus, Testicular neoplasm... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Ptosis, Sacral dimple, Generalized-onset seizure, Epicanthus, Testicular neoplasm... ORPHA:363958
Duane Retraction Syndrome
Optic disc hypoplasia, Short neck, Blepharophimosis, Abnormal form of the vertebral bodies, Bleph... ORPHA:233
Mucopolysaccharidosis Type 6
Kyphosis, Failure to thrive, Ovoid vertebral bodies, Short neck ORPHA:583
Leishmaniasis
Weight loss ORPHA:507
Hurler Syndrome
Short neck, Hypoplasia of the odontoid process, Kyphosis, Bilateral ptosis, Biconcave vertebral b... OMIM:607014
Orthostatic Hypotension 1
Ptosis, Seizure, Orthostatic hypotension, Retrograde ejaculation OMIM:223360
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Clonus, Sparse eyebrow, Cryptorchidism, Synophrys, Bilateral ptosis, Lower limb hypertonia, Chord... ORPHA:477993
Noonan Syndrome 14
Epicanthus, Lacrimal duct stenosis, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, Downsla... OMIM:619745
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Streak ovary, Lumbar hyperlordosis, Hypergonadotropic hypogonadism, ... ORPHA:2232
Distal Triplication 15Q
Telecanthus, Large for gestational age, Kyphosis, Scoliosis, Dandy-Walker malformation ORPHA:314588
Poems Syndrome
Sclerotic vertebral endplates, Paresthesia, Hyperesthesia, Weight loss ORPHA:2905
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... ORPHA:512
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Cryptorchidism, Seizure, Hypogonadism, Gait disturbance, Scoliosis ORPHA:500055
Xfe Progeroid Syndrome
Cachexia, Poor coordination, Failure to thrive, Scoliosis OMIM:610965
Aase-Smith Syndrome I
Dandy-Walker malformation, Ptosis OMIM:147800
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Upslanted palpebral fissure, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Kyphosis, Upslanted palpebral fissure, Scoliosis, Failure to thrive OMIM:617602
Cardiofacioneurodevelopmental Syndrome
Upslanted palpebral fissure, Kyphosis, Cerebellar vermis hypoplasia, Cryptorchidism OMIM:619123
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Synophrys, Hyper... ORPHA:447997
Ohdo Syndrome, X-Linked
Epicanthus, Sparse eyebrow, Scoliosis, Decreased body weight, Blepharophimosis, Downslanted palpe... OMIM:300895
Fryns-Smeets-Thiry Syndrome
Cachexia, Scoliosis ORPHA:2058
X-Linked Mandibulofacial Dysostosis
Epicanthus, Cryptorchidism, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Pt... ORPHA:1131
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Kyphosis, Cryptorchidism, Scoliosis, Downslanted palpebral fissures OMIM:619951
Infant Botulism
Keratoconjunctivitis sicca, Cerebral palsy, Ptosis ORPHA:178478
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ptosis, Broad-based gait, Telecanthus, Bilateral tonic-clonic seizure, Epicanthus, Highly arched ... OMIM:280000
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Short Syndrome
Telecanthus, Weight loss ORPHA:3163
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Sunct Syndrome
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:57145
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Myoclonic spasms OMIM:252150
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Impaired pain sensation, Cryptorchidism, Seizure, Vertebral segmentation defect, Abnormal autonom... ORPHA:453499
Congenital Myopathy 13
Telecanthus, Kyphoscoliosis, Scoliosis, Blepharophimosis, Downslanted palpebral fissures, Short p... OMIM:255995
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Spasticity, Ataxia, Cachexia ORPHA:220295
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Downslanted palpebral fissures, Butterfly vertebrae ORPHA:958
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased fertility ... ORPHA:91347
Polyarteritis Nodosa
Weight loss ORPHA:767
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Levator palpebrae superioris ... ORPHA:45358
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Kyphosis, Angioid streaks of the fundus, Retinopathy, Retinal degeneration OMIM:239000
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Irregular menstruation, Seizure, Platyspondyly, Focal impaired aw... OMIM:616482
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... OMIM:223800
Mend Syndrome
Sacral dimple, Telecanthus, Abnormal auditory evoked potentials, Kyphosis, Cryptorchidism, Upslan... ORPHA:401973
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Simple febrile seizure, Kyphosis, Cryptorchidism, Seizure,... ORPHA:464311
Pemphigus Vulgaris
Weight loss ORPHA:704
Mgat2-Cdg
Kyphosis, Long eyelashes, Cerebellar hypoplasia, Scoliosis, Failure to thrive, Downslanted palpeb... ORPHA:79329
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Retinal calcification, Exudative retinopathy, Platyspondyly, Vitreoreti... OMIM:259770
Shprintzen-Goldberg Syndrome
Telecanthus, Abnormal form of the vertebral bodies, Chiari malformation, Scoliosis, Failure to th... ORPHA:2462
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly, Downslanted palpebral fissures OMIM:616294
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Cerebrooculonasal Syndrome
Epicanthus, Cerebellar vermis hypoplasia, Sparse eyelashes, Optic nerve hypoplasia, Sparse eyebro... OMIM:605627
Agel Amyloidosis
Ataxia, Facial palsy, Bilateral ptosis, Keratoconjunctivitis sicca, Blepharochalasis, Orthostatic... ORPHA:85448
Congenital Disorder Of Glycosylation, Type 2V
Epicanthus, Hydrocele testis, Narrow palpebral fissure, Downslanted palpebral fissures, Ptosis OMIM:619493
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Marden-Walker Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Cerebellar hypoplasia, Scoliosis, Blepharophimos... ORPHA:2461
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... ORPHA:79102
Shprintzen-Goldberg Craniosynostosis Syndrome
Telecanthus, Cryptorchidism, Chiari type I malformation, C1-C2 vertebral abnormality, Scoliosis, ... OMIM:182212
Polymyositis
Gait disturbance, Weight loss ORPHA:732
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Kyphosis, Hemiplegia/hemiparesis, Optic ... ORPHA:394
Seckel Syndrome
Cachexia, Downslanted palpebral fissures, Scoliosis ORPHA:808
Cockayne Syndrome B
Ataxia, Cerebellar calcifications, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:133540
Wiedemann-Steiner Syndrome
Sacral dimple, Epicanthus, Telecanthus, Thick eyebrow, Synophrys, Long eyelashes, Failure to thri... ORPHA:319182
Kaufman Oculocerebrofacial Syndrome
Epicanthus, Telecanthus, Ovoid vertebral bodies, Sparse eyebrow, Upslanted palpebral fissure, Ble... OMIM:244450
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Impaired pain sensation, Cryptorchidism, Typical absence seizure, Inabili... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Impaired pain sensation, Cryptorchidism, Typical absence seizure, Inabili... ORPHA:352665
Trichohepatoneurodevelopmental Syndrome
Epicanthus, Ectropion, Almond-shaped palpebral fissure, Synophrys, Long eyelashes, Cerebellar hyp... OMIM:618268
Kabuki Syndrome
Highly arched eyebrow, Vertebral clefting, Hemivertebrae, Obesity, Abnormal form of the vertebral... ORPHA:2322
Nephroblastoma
Weight loss ORPHA:654
Cardiac Valvular Dysplasia, X-Linked
Ptosis OMIM:314400
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Ataxia, Abnormal eyelid morphology, Kyphosis, Cryptorchidism... ORPHA:636
Six2-Related Frontonasal Dysplasia
Epicanthus inversus, Small for gestational age, Ptosis ORPHA:488437
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Dystonia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal si... ORPHA:51
Genitopalatocardiac Syndrome
Kyphosis, Downslanted palpebral fissures, Scoliosis, Cryptorchidism ORPHA:2075
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Cryptorchidism, Scoliosis, Downslanted palpebral fissures, Ptosis ORPHA:2215
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Cryptorchidism, Poor coordination, Optic atrophy, Spastic diplegia, Upslanted palpebral fissure, ... OMIM:309590
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture OMIM:219090
Jackson-Weiss Syndrome
Ptosis ORPHA:1540
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Broad-based gait, Epicanthus, Obesity, Hemiparesis, Failure to thrive, Downslanted palpebral fiss... ORPHA:369950
Polyvalvular Heart Disease Syndrome
Ptosis ORPHA:228410
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Paresthesia, Cachexia OMIM:175500
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Zttk Syndrome
Epicanthus, Sparse eyebrow, Kyphosis, Optic atrophy, Hemivertebrae, Seizure, Status epilepticus, ... OMIM:617140
Shprintzen Omphalocele Syndrome
Epicanthus, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Smith-Lemli-Opitz Syndrome
Epicanthus, Aganglionic megacolon, Short neck, Abnormal eyelash morphology, Kyphosis, Cryptorchid... ORPHA:818
Rhyns Syndrome
Rod-cone dystrophy, Ptosis OMIM:602152
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Frontorhiny
Epicanthus, Lumbar hyperlordosis, Scoliosis, Ptosis ORPHA:391474
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Silver-Russell Syndrome
Cachexia, Failure to thrive in infancy, Obesity, Scoliosis ORPHA:813
Eosinophilic Granulomatosis With Polyangiitis
Hemiplegia/hemiparesis, Gait disturbance, Weight loss ORPHA:183
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa... ORPHA:3385
Lymphedema-Distichiasis Syndrome
Ptosis, Kyphosis, Conjunctivitis, Distichiasis, Ectropion OMIM:153400
Fetal Hydantoin Syndrome
Cryptorchidism, Epicanthus, Ptosis ORPHA:1912
15Q14 Microdeletion Syndrome
Kyphosis, Seizure, Scoliosis ORPHA:261190
8Q21.11 Microdeletion Syndrome
Epicanthus, Short neck, Cryptorchidism, Blepharophimosis, Downslanted palpebral fissures, Ptosis ORPHA:284160
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Loeys-Dietz Syndrome 5
Ptosis, Failure to thrive in infancy, Kyphoscoliosis, Cervical spine instability, Long palpebral ... OMIM:615582
Acrofrontofacionasal Dysostosis 1
Long eyebrows, Optic atrophy, Seizure, Long eyelashes, S-shaped palpebral fissures, Ptosis OMIM:201180
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Joint contracture OMIM:617864
Cardiac-Valvular Ehlers-Danlos Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Seizure, Thick eyebrow, Ptosis ORPHA:230851
Solitary Fibrous Tumor
Low back pain, Weight loss ORPHA:2126
3Mc Syndrome 3
Sacral dimple, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis OMIM:248340
Au-Kline Syndrome
Sacral dimple, Thoracolumbar scoliosis, Lagophthalmos, Vertebral segmentation defect, Shallow orb... OMIM:616580
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis ORPHA:91416
Turner Syndrome Due To Structural X Chromosome Anomalies
Epicanthus, Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Neck ptery... ORPHA:99413
Van Maldergem Syndrome 2
Sacral dimple, Epicanthus, Cryptorchidism, Narrow palpebral fissure, Scoliosis, Blepharophimosis,... OMIM:615546
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Short neck, Synophrys, Truncal obesity, Scoliosis, Downslanted palp... ORPHA:529962
Mosaic Monosomy X
Epicanthus, Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Neck ptery... ORPHA:99228
Monosomy X
Epicanthus, Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Neck ptery... ORPHA:99226
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Kyphosis, Cryp... ORPHA:536532
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Hypert... OMIM:615846
Turner Syndrome
Epicanthus, Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Neck ptery... ORPHA:881
Scarf Syndrome
Epicanthus, Short neck, Cryptorchidism, Abnormal form of the vertebral bodies, Downslanted palpeb... OMIM:312830
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Van Maldergem Syndrome 1
Epicanthus, Sacral dimple, Scoliosis, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:601390
Codas Syndrome
Hypoplasia of the odontoid process, Cryptorchidism, Coronal cleft vertebrae, Seizure, Lumbar scol... OMIM:600373
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Scoliosis, Thick eyebrow OMIM:162300
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Ptosis OMIM:616323
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Downslanted palpebral fissures, Cryptorchidism, Optic atrophy, Ptosis ORPHA:1555
Monosomy 22Q13.3
Sacral dimple, Epicanthus, Palpebral edema, Impaired pain sensation, Obesity, Long eyelashes, Cer... ORPHA:48652
Mucolipidosis Type Ii
Epicanthus, Inability to walk, Kyphosis, Weight loss, Shallow orbits ORPHA:576
Pachydermoperiostosis
Ptosis, Cerebral palsy, Scoliosis, Impaired temperature sensation ORPHA:2796
Cornelia De Lange Syndrome 1
Curly eyelashes, Short neck, Highly arched eyebrow, Cryptorchidism, Synophrys, Optic disc colobom... OMIM:122470
Familial Glucocorticoid Deficiency
Failure to thrive, Tetraplegia, Weight loss ORPHA:361
Genitourinary And/Or Brain Malformation Syndrome
Epicanthus, Streak ovary, Kyphoscoliosis, Cryptorchidism, Upslanted palpebral fissure, Chordee, C... OMIM:618820
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Myasthenia Gravis
Fatigable weakness, Facial palsy, Ptosis OMIM:254200
Myasthenic Syndrome, Congenital, 19
Ptosis, Facial palsy, Spinal rigidity OMIM:616720
Cog1-Cdg
Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Kyphoscoliosis, Short neck, Abnor... ORPHA:263508
Phace Syndrome
Optic nerve hypoplasia, Hemiplegia/hemiparesis, Abnormality of the orbital region, Seizure, Retin... ORPHA:42775
Dubowitz Syndrome
Sacral dimple, Epicanthus, Telecanthus, Cryptorchidism, Blepharophimosis, Rod-cone dystrophy, Spa... OMIM:223370
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Failure to thrive, Weight loss ORPHA:79128
Prolidase Deficiency
Failure to thrive, Ptosis OMIM:170100
Lymphedema-Hypoparathyroidism Syndrome
Telecanthus, Ptosis OMIM:247410
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly, Chorea, Spasticity ORPHA:1855
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Primary Hepatic Neuroendocrine Carcinoma
Ptosis, Weight loss ORPHA:100085
Rheumatoid Arthritis
Weight loss OMIM:180300
Cowden Syndrome
Ataxia, Kyphosis, Abnormal cerebellum morphology, Scoliosis, Failure to thrive, Conjunctival hama... ORPHA:201
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Ptosis OMIM:615453
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Ataxia, Seizure, Spasticity, Rod-cone dystrophy, Ptosis OMIM:124000
Loeffler Endocarditis
Weight loss ORPHA:75566
Helsmoortel-Van Der Aa Syndrome
Epicanthus, Facial palsy, Tonic seizure, Hyperlordosis, Cryptorchidism, Typical absence seizure, ... OMIM:615873
Ophthalmoplegia, Familial Static
Ptosis OMIM:165000
Spondylodysplastic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Cryptorchidism, Optic disc col... ORPHA:536471
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Epicanthus, Telecanthus, Short neck, Cryptorchidism, Kyphosis, Upslanted palpebral... OMIM:616894
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Noonan Syndrome 10
Epicanthus, Short neck, Sparse eyebrow, Cryptorchidism, Scoliosis, Downslanted palpebral fissures... OMIM:616564
Beck-Fahrner Syndrome
Seizure, Lacrimal duct stenosis, Ptosis OMIM:618798
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Seizure, Kyphosis ORPHA:1860
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Telecanthus, Small for gestational age, Long eyelashes, Blepharophimosis, Ptosis OMIM:604314
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Char Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:46627
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypocalcemic seizures ORPHA:2239
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Retinal detachment, Epicanthus, Kyphoscoliosis, Platyspondyly, Progressive congenital scoliosis, ... OMIM:225400
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Epicanthus, Optic atrophy, Seizure, Hypertonia, Ptosis OMIM:618164
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Ptosis OMIM:212112
Vici Syndrome
Epicanthus, Cerebellar vermis hypoplasia, Macular atrophy, Ocular albinism, Seizure, Macular hypo... OMIM:242840
Familial Thrombocytosis
Paresthesia, Weight loss ORPHA:71493
Beare-Stevenson Cutis Gyrata Syndrome
Downslanted palpebral fissures, Chiari malformation, Optic atrophy, Ptosis OMIM:123790
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Waddling gait, Spinal canal stenosis, Upslanted palpebral fissure, ... OMIM:186500
Multiple Myeloma
Vertebral compression fracture, Paresthesia, Weight loss ORPHA:29073
Tyshchenko Syndrome
Cryptorchidism, Ptosis OMIM:615102
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigable weakness, Ptosis ORPHA:257
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Kyphosis, Cryptorchidism, Seizure, Gait disturbance, Scoliosis, Febrile seizur... ORPHA:464306
Acro-Renal-Ocular Syndrome
Vertebral fusion, Epicanthus, Optic disc hypoplasia, Aganglionic megacolon, Optic disc coloboma, ... ORPHA:959
Native American Myopathy
Cryptorchidism, Inability to walk, Bilateral ptosis, Abnormal curvature of the vertebral column, ... ORPHA:168572
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Optic nerve hyp... ORPHA:141099
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Wolman Disease
Cachexia ORPHA:75233
Pediatric-Onset Graves Disease
Tremor, Hyperkinetic movements, Abnormal eyelid morphology ORPHA:525731
Ménétrier Disease
Weight loss ORPHA:2494
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Trisomy 18
Epicanthus, Cachexia, Hypertonia, Chiari malformation, Blepharophimosis ORPHA:3380
Hajdu-Cheney Syndrome
Telecanthus, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Synophrys, Chiari malformati... ORPHA:955
Aniridia-Absent Patella Syndrome
Cryptorchidism, Ptosis ORPHA:1069
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Autosomal Recessive Robinow Syndrome
Sacral dimple, Epicanthus, Short neck, Kyphosis, Cryptorchidism, Upslanted palpebral fissure, Ver... ORPHA:1507
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Long eyelashes, Short palpebral fissure, Highly arched eyebrow, Ptosis OMIM:615866
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Truncal obesity OMIM:219080
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Behçet Disease
Ataxia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Keratoconjunctivitis sicca, Paresthesi... ORPHA:117
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Telecanthus, Multifocal seizures, Myoclonic seizure, Scoliosis, Hooded upper eyelid, Ptosis OMIM:618548
Cohen-Gibson Syndrome
Epicanthus, Cryptorchidism, Poor coordination, Seizure, Gait disturbance, Scoliosis, Downslanted ... OMIM:617561
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity OMIM:610475
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Ptosis OMIM:606220
Cystic Echinococcosis
Abnormality of the vertebral column, Weight loss ORPHA:400
Simple Cryoglobulinemia
Weight loss, Paresthesia, Spontaneous pain sensation ORPHA:91139
Dubowitz Syndrome
Sacral dimple, Epicanthus, Telecanthus, Cryptorchidism, Seizure, Scoliosis, Blepharophimosis, Spi... ORPHA:235
Felty Syndrome
Weight loss ORPHA:47612
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Lymphedema-Distichiasis Syndrome
Ectropion, Distichiasis, Conjunctivitis, Ptosis ORPHA:33001
Ramon Syndrome
Optic disc pallor, Kyphosis, Seizure, Pigmentary retinopathy, Scoliosis OMIM:266270
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Upslanted palpebral fissure, Seizure, Ptosis OMIM:619758
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Antecubital pterygium, Scoliosis, Ptosis OMIM:161200
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Upslanted palpebral fissure, Fused cervical ve... ORPHA:1724
Autosomal Dominant Robinow Syndrome
Sacral dimple, Epicanthus, Curly eyelashes, Short neck, Cryptorchidism, Hemivertebrae, Abnormal f... ORPHA:3107
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Scoliosis, Ptosis OMIM:615895
Lathosterolosis
Epicanthus, Lumbosacral meningocele, Seizure, Chiari malformation, Downslanted palpebral fissures... OMIM:607330
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Visceral Myopathy, Familial, With External Ophthalmoplegia
Ptosis OMIM:277320
Frontofacionasal Dysplasia
Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs... OMIM:229400
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Pneumocystosis
Weight loss ORPHA:723
Waardenburg Syndrome
Abnormal eyebrow morphology, Telecanthus, Aganglionic megacolon, Synophrys, Ptosis ORPHA:3440
Cree Mental Retardation Syndrome
Cryptorchidism, Downslanted palpebral fissures, Ptosis OMIM:606851
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Abnormal odontoid tissue morphology, Dystonia ORPHA:79255
Refractory Celiac Disease
Weight loss ORPHA:398063
Wagro Syndrome
Downslanted palpebral fissures, Obesity, Ptosis OMIM:612469
Aniridia 1
Hypoplasia of the fovea, Optic nerve hypoplasia, Bilateral ptosis, Chorioretinal hypopigmentation... OMIM:106210
Intestinal Botulism
Ptosis ORPHA:178481
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Aganglionic megacolon, Abnormal nasolacrimal system morphology, Abnormal eyelid m... ORPHA:2273
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Skin Creases, Congenital Symmetric Circumferential, 2
Epicanthus, Short neck, Cryptorchidism, Synophrys, Upslanted palpebral fissure, Seizure, Blepharo... OMIM:616734
Faciocardiomelic Syndrome
Telecanthus, Large for gestational age, Cuboid-shaped vertebral bodies, Short eyelashes, Ptosis OMIM:612731
Stickler Syndrome
Epicanthus, Telecanthus, Cachexia, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnor... ORPHA:828
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Epicanthus, Large for gestational age, Short neck, Long eyelashes, Failure to thrive, Downslanted... OMIM:607721
Muenke Syndrome
Ptosis ORPHA:53271
Jacobsen Syndrome
Epicanthus, Ectropion, Short neck, Cryptorchidism, Abnormal form of the vertebral bodies, Seizure... ORPHA:2308
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Charge Syndrome
Ptosis, Epicanthus, Hypogonadotropic hypogonadism, Facial palsy, Highly arched eyebrow, Cryptorch... ORPHA:138
Myasthenia Gravis
Seizure, Paresthesia, Ptosis ORPHA:589
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Noonan Syndrome With Multiple Lentigines
Cryptorchidism, Decreased fertility, Scoliosis, Spina bifida occulta, Ptosis ORPHA:500
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Arboleda-Tham Syndrome
Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Bilateral cryptorchidism, Optic atroph... OMIM:616268
Fanconi Anemia
Epicanthus, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Weight loss, Upslanted p... ORPHA:84
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss ORPHA:465508
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Pseudopapilledema, Primary amenorrhea, Ptosis OMIM:146255
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Hyperlordosis, Weight loss, Scoliosis, Failure to thrive ORPHA:2020
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Weight loss, Abnorm... ORPHA:79078
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Epicanthus, Hyperlordosis, Synophrys, Obesity, Downslanted palpebral fissures, Ptosis OMIM:301066
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Epicanthus, Short neck, Cryptorchidism, Kyphosis, Upslanted palpebral fissure, Hypertonia, Scoliosis OMIM:619194
Gabriele-De Vries Syndrome
Waddling gait, Telecanthus, Small for gestational age, Lacrimal duct stenosis, Tremor, Sparse eye... ORPHA:506358
Congenital Myopathy 17
Downslanted palpebral fissures, Telecanthus, Failure to thrive in infancy, Ptosis OMIM:618975
Somatomammotropinoma
Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Palpebral edema, Kyphosis, Synophrys... ORPHA:314769
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Seizure, Ptosis OMIM:309520
Microphthalmia, Syndromic 2
Retinal detachment, Thick eyebrow, Remnants of the hyaloid vascular system, Cryptorchidism, Seizu... OMIM:300166
Hurler-Scheie Syndrome
Kyphosis, Scoliosis OMIM:607015
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Highly arched eyebrow, Kyphosis,... OMIM:143095
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Branchio-Oculo-Facial Syndrome
Upslanted palpebral fissure, Nasolacrimal duct obstruction, Ptosis ORPHA:1297
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Epicanthus, Short neck, Kyphosis, Hemivertebrae, Scoliosis OMIM:618223
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Epicanthus, Kyphosis, Cryptorchidism, Hemiplegia/hemiparesis, Optic ... ORPHA:1606
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Seizure, Myoclonus, Tetraplegia OMIM:618278
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Keratoconjunctivitis sicca, Downslanted palpebral fissures OMIM:616914
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Blepharophimosis, Cryptorchidism, Ptosis ORPHA:2728
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Epicanthus, Highly arched eyebrow, Short neck, Failure to thrive, Downslanted palpebral fissures,... OMIM:613563
Primary Myelofibrosis
Cachexia ORPHA:824
Noonan Syndrome 2
Epicanthus, Short neck, Sparse eyebrow, Cryptorchidism, Downslanted palpebral fissures, Ptosis OMIM:605275
Klatskin Tumor
Weight loss ORPHA:99978
Moebius Syndrome
Epicanthus, Hypogonadotropic hypogonadism, Facial palsy, Blepharitis, Ptosis ORPHA:570
Malt Lymphoma
Abnormal nasolacrimal system morphology, Weight loss ORPHA:52417
Opitz Gbbb Syndrome
Telecanthus, Aplasia/Hypoplasia of the cerebellar vermis, Cryptorchidism, Vertebral segmentation ... ORPHA:2745
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture OMIM:253800
Stevens-Johnson Syndrome
Entropion, Conjunctivitis, Weight loss ORPHA:36426
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Epicanthus, Short neck, Cryptorchidism, Synophrys, Cervical C5/C6 vertebrae fusion... OMIM:613458
Neurofibromatosis-Noonan Syndrome
Epicanthus, Short neck, Scoliosis, Lisch nodules, Downslanted palpebral fissures, Ptosis OMIM:601321
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Budd-Chiari Syndrome
Weight loss ORPHA:131
Coffin-Siris Syndrome
Thick eyebrow, Cryptorchidism, Prominent eyelashes, Seizure, Scoliosis, Dandy-Walker malformation... ORPHA:1465
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Retinal dysplasia, Cerebellar dysplasia OMIM:601374
Toxic Epidermal Necrolysis
Entropion, Conjunctivitis, Weight loss ORPHA:537
Sandhoff Disease
Exaggerated startle response OMIM:268800
Gjc2-Related Late-Onset Primary Lymphedema
Ptosis ORPHA:568051
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Tukel Syndrome
Congenital fibrosis of extraocular muscles, Ptosis OMIM:609428
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Truncal obesity OMIM:610489
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hyperlordosis, Inability to walk, Fatigable weakness of swallowing muscles, Difficulty walking, S... ORPHA:365
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Acromegaly
Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Palpebral edema, Kyphosis, Synophrys... ORPHA:963
Osteogenesis Imperfecta
Somatic sensory dysfunction, Ataxia, Cervical kyphosis, Small for gestational age, Kyphosis, Vert... ORPHA:666
Leopard Syndrome 1
Epicanthus, Kyphoscoliosis, Short neck, Cryptorchidism, Hypoplasia of the ovary, Delayed menarche... OMIM:151100
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Coffin-Siris Syndrome 4
Thick eyebrow, Seizure, Long eyelashes, Scoliosis, Dandy-Walker malformation, Ptosis OMIM:614609
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Seizure OMIM:300942
Familial Osteodysplasia, Anderson Type
Kyphosis, Abnormal form of the vertebral bodies, Seizure, Scoliosis, Thick eyebrow ORPHA:2769
Rubinstein-Taybi Syndrome 1
Broad eyebrow, Epicanthus, Incoordination, Small for gestational age, Highly arched eyebrow, Unst... OMIM:180849
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Oligozoospermia, Azoospermia... ORPHA:125
Pituitary Apoplexy
Impotence, Hypergonadotropic hypogonadism, Oligomenorrhea, Ptosis ORPHA:95613
Myasthenic Syndrome, Congenital, 21, Presynaptic
Ptosis, Difficulty walking, Fatigable weakness of skeletal muscles OMIM:617239
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Menke-Hennekam Syndrome 1
Epicanthus, Telecanthus, Thick eyebrow, Cryptorchidism, Upslanted palpebral fissure, Seizure, Lon... OMIM:618332
Granulomatosis With Polyangiitis
Conjunctivitis, Weight loss OMIM:608710
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss ORPHA:199299
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Epicanthus, Cryptorchidism, Downslanted palpebral fissures, Ptosis ORPHA:264200
Caroli Disease
Conjunctival icterus, Weight loss ORPHA:53035
Thymoma
Weight loss ORPHA:99867
Lysosomal Acid Lipase Deficiency
Xanthelasma, Failure to thrive, Cachexia, Weight loss ORPHA:275761
Juvenile Dermatomyositis
Palpebral edema, Weight loss ORPHA:93672
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Myhre Syndrome
Cryptorchidism, Platyspondyly, Hypogonadism, Blepharophimosis, Short palpebral fissure, Ptosis ORPHA:2588
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Noonan Syndrome 3
Epicanthus, Cryptorchidism, Chiari type I malformation, Downslanted palpebral fissures, Ptosis OMIM:609942
Kabuki Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Highly arched eyebrow, Sparse eyebrow, Cryptorch... OMIM:147920
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Teebi-Shaltout Syndrome
Ptosis, Telecanthus, Highly arched eyebrow, Caudal appendage OMIM:272950
22Q11.2 Deletion Syndrome
Telecanthus, Epicanthus, Aganglionic megacolon, Short neck, Retinal arteriolar tortuosity, Crypto... ORPHA:567
Familial Pancreatic Carcinoma
Back pain, Weight loss ORPHA:1333
Brucellosis
Small for gestational age, Chorea, Weight loss, Sacroiliac arthritis, Failure to thrive ORPHA:1304
Chime Syndrome
Epicanthus, Upslanted palpebral fissure, Seizure, Retinal coloboma, Ptosis ORPHA:3474
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Neuroocular Syndrome
Hypoplasia of the fovea, Sacral dimple, Remnants of the hyaloid vascular system, Highly arched ey... OMIM:619539
Rapp-Hodgkin Syndrome
Sparse eyebrow, Absent lacrimal punctum, Sparse eyelashes, Ptosis OMIM:129400
Fetal Akinesia Deformation Sequence 1
Telecanthus, Small for gestational age, Short neck, Cerebellar hypoplasia, Blepharophimosis, Shor... OMIM:208150
Hunter-Macdonald Syndrome
Upslanted palpebral fissure, Scoliosis, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:611962
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Ptosis, Sacral dimple, Downslanted palpebral fissures, Eyelid coloboma ORPHA:2211
Branchiooculofacial Syndrome
Telecanthus, Agenesis of cerebellar vermis, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Cr... OMIM:113620
Williams Syndrome
Tremor, Abnormal form of the vertebral bodies, Dysmetria, Vertebral segmentation defect, Spina bi... ORPHA:904
Coffin-Siris Syndrome 1
Sacral dimple, Thick eyebrow, Kyphosis, Cryptorchidism, Gait ataxia, Seizure, Long eyelashes, Sco... OMIM:135900
Ayme-Gripp Syndrome
Chiari type I malformation, Seizure, Upslanted palpebral fissure, Downslanted palpebral fissures,... OMIM:601088
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Epicanthus, Short neck, Focal-onset seizure, Typical absence seizure, Optic disc c... OMIM:617157
Hermansky-Pudlak Syndrome
Long eyelashes, Weight loss ORPHA:79430
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness, Ptosis OMIM:159400
Visual Impairment And Progressive Phthisis Bulbi
Ptosis OMIM:618283
Kikuchi-Fujimoto Disease
Ataxia, Palpebral edema, Weight loss ORPHA:50918
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Chiari type I malformation, Agenesis of cerebellar vermis, Cryptorc... ORPHA:261537
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Weight loss ORPHA:49041
Marfan Syndrome
Cachexia, Kyphosis, Downslanted palpebral fissures, Scoliosis, Slender build, Spondylolisthesis ORPHA:558
Al Amyloidosis
Weight loss ORPHA:85443
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Epicanthus, Kyphoscoliosis, Short neck, Cryptorchidism, Optic atrophy, Upslanted palpebral fissur... OMIM:309580
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Failure to thrive in infancy, Ptosis ORPHA:228426
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Weight loss ORPHA:309031
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Hypogonadotropic hypogonadism, Scoliosis, Cryptorchidism OMIM:619718
Cornelia De Lange Syndrome
Curly eyelashes, Short neck, Highly arched eyebrow, Cryptorchidism, Synophrys, Primary amenorrhea... ORPHA:199
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Epicanthus, Short neck, Cryptorchidism, Antecubital pterygium, Popliteal pterygium, ... OMIM:609945
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Glycogen Storage Disease Xii
Ptosis, Epicanthus, Short neck OMIM:611881
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Scoliosis ORPHA:109
Nijmegen Breakage Syndrome
Abnormal eyelid morphology, Upslanted palpebral fissure, Cachexia, Short neck ORPHA:647
Cardiospondylocarpofacial Syndrome
Epicanthus, Telecanthus, Upslanted palpebral fissure, Fused cervical vertebrae, Herniation of int... OMIM:157800
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Downslanted... OMIM:249420
Oculocerebrorenal Syndrome Of Lowe
Chorioretinal dysplasia, Clonus, Kyphosis, Cryptorchidism, Upslanted palpebral fissure, Azoosperm... ORPHA:534
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Synophrys, Obesity, Long eyelashes, Downslanted palpebral fissures, Cervic... ORPHA:444077
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Absent lacrimal punctum, Cryptorchidism, Hypoplasia of the lacrimal punct... ORPHA:2363
Polycythemia Vera
Weight loss ORPHA:729
Combined Oxidative Phosphorylation Deficiency 33
Ptosis OMIM:617713
Pearson Syndrome
Pigmentary retinopathy, Seizure, Ataxia, Ptosis ORPHA:699
Coffin-Lowry Syndrome
Telecanthus, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Scoliosis, Decreased body weight, ... OMIM:303600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Sacral dimple, Epicanthus, Aganglionic megacolon, Cryptorchidism, Chiari type... OMIM:270400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Chiari type I malformation, Agenesis of cerebellar vermis, Highly a... ORPHA:261552
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow... OMIM:154500
Neurofaciodigitorenal Syndrome
Cryptorchidism, Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:2673
Lenz-Majewski Hyperostotic Dwarfism
Abnormal nasolacrimal system morphology, Facial palsy, Kyphosis, Cryptorchidism, Hypogonadism, Sc... ORPHA:2658
Hypermobile Ehlers-Danlos Syndrome
Epicanthus, Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Decreased fe... ORPHA:285
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the cervical spine, Weight loss ORPHA:85408
Holoprosencephaly 4
Ptosis OMIM:142946
Proteus Syndrome
Abnormality of retinal pigmentation, Testicular neoplasm, Retinal hamartoma, Kyphosis, Abnormal f... ORPHA:744
Poland Syndrome
Short neck, Retinal hamartoma, Kyphosis, Cryptorchidism, Hemivertebrae, Vertebral segmentation de... ORPHA:2911
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Rat-Bite Fever
Back pain, Weight loss ORPHA:31205
Meckel Syndrome, Type 1
Dilated fourth ventricle, Short neck, Cryptorchidism, Chiari malformation, Cerebellar hypoplasia,... OMIM:249000
Sotos Syndrome
Sacrococcygeal teratoma, Cerebellar vermis hypoplasia, Aganglionic megacolon, Bilateral tonic-clo... ORPHA:821
Noonan Syndrome 1
Male infertility, Epicanthus, Kyphoscoliosis, Short neck, Cryptorchidism, Hypogonadism, Downslant... OMIM:163950
Reactive Arthritis
Conjunctivitis, Weight loss ORPHA:29207
Noonan Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Scoliosis, Downslanted palpebral fissures, Ptosis ORPHA:648
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Epicanthus, Small for gestational age, Highly arched eyebrow, Ky... OMIM:194190
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Epicanthus, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, ... ORPHA:1772
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Cryptorchidism, Seizure, Difficulty walking, Ptosis OMIM:618748
Costello Syndrome
Epicanthus, Short neck, Enlarged cerebellum, Chiari type I malformation, Failure to thrive, Downs... OMIM:218040
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Difficulty walking, Seizure, Scoliosis OMIM:619482
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyelashes, Kyphosis, Absent eyebrow ORPHA:85199
Aspartylglucosaminuria
Kyphosis, Spasticity, Seizure, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, Beaking o... OMIM:208400
Microsporidiosis
Keratoconjunctivitis, Cachexia, Weight loss ORPHA:2552
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Aganglionic megacolon, Absent eyelashes, Cryptorchidism, Seizure, Chiari malforma... OMIM:308205
Primrose Syndrome
Epicanthus, Hypergonadotropic hypogonadism, Ataxia, Bilateral cryptorchidism, Kyphosis, Cryptorch... OMIM:259050
Mesomelia-Synostoses Syndrome
Downslanted palpebral fissures, Telecanthus, Abnormal vertebral morphology, Ptosis OMIM:600383
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Ptosis, Cryptorchidism, Highly arched eyebrow, Short neck ORPHA:2282
Q Fever
Weight loss ORPHA:781
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Fused cervical vertebrae, Seizure, Cerebellar hypoplasia, Ptosis OMIM:274000
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Pancreatoblastoma
Weight loss ORPHA:677
Monosomy 13Q14
Ptosis, Retinoblastoma, Epicanthus, Short neck ORPHA:1587
Auriculocondylar Syndrome
Ptosis ORPHA:137888
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Ptosis OMIM:167100
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Nocturnal lagophthalmos, Loss of eyelashes, Weight loss, Shuffling gait, Shallow ... ORPHA:740
Degcags Syndrome
Abnormal eyebrow morphology, Sacral dimple, Small for gestational age, Abnormal eyelash morpholog... OMIM:619488
Good Syndrome
Fatigable weakness, Ptosis ORPHA:169105
17Q11 Microdeletion Syndrome
Abnormal central motor function, Retinal vascular proliferation, Kyphosis, Focal-onset seizure, S... ORPHA:97685
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Ptosis ORPHA:306542
Pyomyositis
Weight loss ORPHA:764
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Highly arched eyebrow, Trichiasis, Cryptorchidism, Nasolacrimal duct obstruction, Abnormal curvat... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Highly arched eyebrow, Trichiasis, Cryptorchidism, Nasolacrimal duct obstruction, Abnormal curvat... ORPHA:353277
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Castleman Disease
Weight loss ORPHA:160
Tropical Pancreatitis
Weight loss ORPHA:103918
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Ptosis OMIM:259100
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Granulomatosis With Polyangiitis
Hemiplegia, Weight loss ORPHA:900
Norrie Disease
Clonus, Cachexia, Hypertonia, Scoliosis, Aplasia/Hypoplasia of the cerebellum, Failure to thrive ORPHA:649
Nocardiosis
Dacryocystitis, Conjunctivitis, Weight loss ORPHA:31204
Zygomycosis
Retinal detachment, Abnormal cranial nerve morphology, Retinal arterial occlusion, Chemosis, Ptosis ORPHA:73263
Cystinosis, Nephropathic
Male infertility, Retinal pigment epithelial mottling, Pigmentary retinopathy, Male hypogonadism,... OMIM:219800
Juvenile Polyposis Of Infancy
Downslanted palpebral fissures, Cachexia ORPHA:79076
Dermatomyositis
Abnormal eyelid morphology, Weight loss ORPHA:221
Immunodeficiency 31C
Weight loss OMIM:614162
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Diamond-Blackfan Anemia
Ptosis, Epicanthus, Small for gestational age, Short neck ORPHA:124
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Seizure, Orthostatic hypotension OMIM:304150
Trichorhinophalangeal Syndrome, Type Ii
Thoracolumbar scoliosis, Bilateral cryptorchidism, Hemiparesis, Seizure, Lumbar scoliosis, Scolio... OMIM:150230
Peters-Plus Syndrome
Short neck, Cryptorchidism, Hemivertebrae, Upslanted palpebral fissure, Seizure, Narrow palpebral... OMIM:261540
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Downslanted palpebral fissures, Scoliosis ORPHA:198
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Wrinkly Skin Syndrome
Epicanthus, Kyphosis, Scoliosis, Failure to thrive, Downslanted palpebral fissures OMIM:278250
Intellectual Developmental Disorder, Autosomal Dominant 68
Epicanthus, Ptosis OMIM:619934
Ppoma
Weight loss ORPHA:97278
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Weight loss OMIM:181000
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Aganglionic megacolon, Kyphoscoliosis, Cryptorchidism, Optic disc coloboma,... OMIM:309800
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Cryptorchidism, Downslanted palpebral fissures, Thick eyebrow, Ptosis ORPHA:1519
Somatostatinoma
Weight loss ORPHA:97283
Sarcoidosis
Dacryocystitis, Enlarged lacrimal glands, Weight loss, Keratoconjunctivitis sicca, Abnormal conju... ORPHA:797
Parathyroid Carcinoma
Weight loss ORPHA:143
Alström Syndrome
Thoracic scoliosis, Hypoplasia of the Leydig cells, Ataxia, Drusen, Testicular fibrosis, Typical ... ORPHA:64
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Grfoma
Weight loss ORPHA:97261
Vipoma
Weight loss ORPHA:97282
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Igg4-Related Kidney Disease
Dacryocystitis, Weight loss ORPHA:449395
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Glucagonoma
Weight loss ORPHA:97280
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ptosis OMIM:620303
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... OMIM:300106
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Postinfectious Vasculitis
Weight loss ORPHA:48435
Mowat-Wilson Syndrome
Aganglionic megacolon, Cryptorchidism, Seizure, Chorioretinal coloboma, Downslanted palpebral fis... OMIM:235730
Charge Syndrome
Hypogonadotropic hypogonadism, Facial palsy, Cryptorchidism, Hemivertebrae, Retinal coloboma, Sco... OMIM:214800
Autosomal Dominant Cutis Laxa
Ptosis, Scoliosis, Abnormal curvature of the vertebral column ORPHA:90348
Lowe Oculocerebrorenal Syndrome
Kyphosis, Cryptorchidism, Seizure, Platyspondyly, Scoliosis OMIM:309000
Pallister-Hall Syndrome
Ptosis, Cryptorchidism, Hemivertebrae, Cerebellar hypoplasia, Downslanted palpebral fissures, Dec... ORPHA:672
Multiple Endocrine Neoplasia Type 1
Weight loss ORPHA:652
Yunis-Varon Syndrome
Epicanthus, Cerebellar vermis hypoplasia, Small for gestational age, Anterior concavity of thorac... OMIM:216340
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Viss Syndrome
Retinal detachment, Ectropion, Kyphosis, Scoliosis, Long palpebral fissure, Butterfly vertebrae, ... OMIM:619472
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Vertebral compression fra... ORPHA:99889
Okamoto Syndrome
Long palpebral fissure, Scoliosis, Ptosis ORPHA:2729
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Craniofacial Microsomia 1
Ptosis, Block vertebrae, Blepharophimosis, Hemivertebrae, Upper eyelid coloboma, Chiari malformat... OMIM:164210
Chronic Graft Versus Host Disease
Keratoconjunctivitis sicca, Weight loss ORPHA:99921
Singleton-Merten Syndrome 1
Waddling gait, Ptosis, Scoliosis, Decreased body weight OMIM:182250
Kawasaki Disease
Conjunctivitis, Ptosis ORPHA:2331
Pallister-Killian Syndrome
Sacral dimple, Telecanthus, Sparse eyelashes, Epicanthus, Kyphoscoliosis, Short neck, Sparse eyeb... OMIM:601803
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
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Vascular Ehlers-Danlos Syndrome
Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Abnormal eyelash morphology, Cryptorchidism, ... ORPHA:286
Goodpasture Syndrome
Weight loss OMIM:233450
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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