Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
superoxide dismutase 1, soluble
Synonyms:
Ipo1,  SODC,  Sod-1,  Ipo-1,  CuZnSOD,  Cu/Zn-SOD,  B430204E11Rik,  Cu(2+)-Zn2+ superoxide dismutase

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Sod1 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 Sod1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Sod1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Loss of ambulation, Dista... OMIM:608627
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Spinal Muscular Atrophy, Type Iii
Loss of ambulation, Hand tremor, Pelvic girdle amyotrophy, Degeneration of anterior horn cells, P... OMIM:253400
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Frontal cortical atrophy, Brain atrophy, Shoulder girdle muscle atrophy, Limb muscle weakness, Lo... OMIM:167320
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Babinski sign, Cogwheel rigidity, Spasticity, Spastic tetraparesis, Hypertonia, Loss of a... ORPHA:225154
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Sparse axillary hair, Ovar... OMIM:228300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Ankle clonus, Increased v... OMIM:613954
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Ataxia, Hand muscle atrophy, Babinski sign, Spasticity of facial m... OMIM:205100
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Ataxia, Lower-limb joint contracture, Inability to walk, Upper-lim... ORPHA:300605
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Gowers sign, Progressive distal muscular atrophy, Myoclonus, Degeneration of anterior horn cells,... OMIM:159950
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory im... OMIM:604484
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... OMIM:601382
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Cerebral cortical atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells,... OMIM:607596
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Abnormal lacrimal duct morphology, Female infertility, Streak ovary, Hypergonadotropic hypogonadi... ORPHA:572333
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Elevated circulating alkaline phosphatase concentration, Brain atr... ORPHA:52430
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Spastic Paralysis, Infantile-Onset Ascending
Morphological abnormality of the corticospinal tract, Babinski sign, Scoliosis, Spastic paraplegi... OMIM:607225
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Clumsiness, Joint contracture of ... ORPHA:399086
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cer... OMIM:105550
Oculopharyngodistal Myopathy
Weakness of facial musculature, Difficulty walking, Distal lower limb amyotrophy, Fatigable weakn... ORPHA:98897
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Optic Atrophy 8
Sensorineural hearing impairment, Abnormality of pattern visual evoked potentials, Prolonged soma... OMIM:616648
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Myopathy And Diabetes Mellitus
Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Progressive proximal muscle weakn... ORPHA:2596
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Spastic Paraplegia 2, X-Linked
Loss of ambulation, Flexion contracture, Dysmetria, Babinski sign, Lower limb muscle weakness, Sp... OMIM:312920
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude OMIM:613641
Autosomal Dominant Spastic Paraplegia Type 38
Amyotrophy of ankle musculature, First dorsal interossei muscle weakness, Impaired vibration sens... ORPHA:171617
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Degeneration of anterior horn cells, Degen... OMIM:105400
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... ORPHA:399058
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Acroparesthesia, Abnormal enzyme/coenzyme activ... ORPHA:206448
Marinesco-Sjogren Syndrome
Failure to thrive, Ataxia, Kyphosis, Flexion contracture, Limb ataxia, Rimmed vacuoles, Scoliosis... OMIM:248800
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Intrinsic hand muscle atrophy, Progressive proximal muscle weakness, Limb-girdle muscle weakness,... ORPHA:98912
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Spinal Muscular Atrophy, Type Ii
Hand tremor, Degeneration of anterior horn cells, Spinal muscular atrophy, Muscle weakness, Tongu... OMIM:253550
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Bulbar palsy, Gliosis, Progressive cerebellar ataxia, Distal muscle weakness, Babins... ORPHA:275872
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Distal Anoctaminopathy
Progressive proximal muscle weakness, Calf muscle pseudohypertrophy, Distal amyotrophy, Progressi... ORPHA:399096
Huntington Disease-Like 3
Ataxia, Frontal cortical atrophy, Flexion contracture, Abnormal pyramidal sign, Morphological abn... OMIM:604802
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis, Athetosis, Paralysis, Dystonia OMIM:300857
Desminopathy
Loss of ambulation, Spinal rigidity, Weakness of facial musculature, Thoracic kyphoscoliosis, Nec... ORPHA:98909
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:614373
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Distal muscle weakness, Abnormal pyramidal sign, Babinski sign, Di... OMIM:602099
Dystonia 16
Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Morphologic... OMIM:612067
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Micropenis, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone con... OMIM:619761
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Distal muscle weakness, Scoliosis, Spinal muscular atrophy, Abnorm... OMIM:611067
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Muscle weakness, Distal upper limb amyotrophy, Fasci... ORPHA:65684
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Failure to thrive, Cerebral cortical atrophy, Hepatomegaly, Spastic par... OMIM:238970
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... OMIM:608030
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Difficulty walking, Achilles tendon cont... ORPHA:610
Triosephosphate Isomerase Deficiency
Cholelithiasis, Macrocytic anemia, Tremor, Spasticity, Unsteady gait, Prolonged neonatal jaundice... OMIM:615512
Autosomal Dominant Spastic Paraplegia Type 42
Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb amyotrophy, Lower limb... ORPHA:171863
Distal Nebulin Myopathy
Slender build, Nemaline bodies, Progressive proximal muscle weakness, EMG: myopathic abnormalitie... ORPHA:399103
Autosomal Dominant Spastic Paraplegia Type 8
Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb muscle we... ORPHA:100989
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Ataxia, Gliosis, Cerebral atrophy, Abnormal pyramidal si... OMIM:256600
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Alopecia,... ORPHA:453533
Autosomal Dominant Spastic Paraplegia Type 37
Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb muscle weakness, Degen... ORPHA:171612
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Morphological abnormality of the pyramidal tract, Limb myoclonus, Lower limb mus... ORPHA:356
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Cerebral atrophy, Tip-toe gait, Babinski sign, Morphological abnormality of the pyramidal tract, ... ORPHA:83629
Autosomal Dominant Spastic Paraplegia Type 19
Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb amyotroph... ORPHA:100999
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Foot dorsiflexor weakness, Distal sensory impairment, Difficulty walking, Pr... OMIM:617087
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... ORPHA:95434
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616437
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Decreased testicular size, Hypogonadism, Abnormality of the ovary, Ptosis ORPHA:1875
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Inherited Creutzfeldt-Jakob Disease
Senile plaques, Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ... ORPHA:282166
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... ORPHA:600
Juvenile Primary Lateral Sclerosis
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... ORPHA:247604
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ... OMIM:600795
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb muscle weakness, Spast... OMIM:600363
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Progressive... OMIM:605355
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... OMIM:607483
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Flexion contractur... OMIM:301830
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Parkinsonism, Astrocytosis, Abnormal lower motor neuro... ORPHA:100070
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency due to muscle weakness, Bulbar palsy, Progressive proximal muscle weakn... ORPHA:254875
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Kyphoscoliosis, Abnormal muscle fiber morphology, Proximal muscle weakness, Weak... ORPHA:1145
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Loss of ambulation, Tongue fasciculations, Muscle weakness, Fascic... OMIM:613435
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Parkinsonism, Abnormal lower motor neuron morphology, Paralysis, M... OMIM:105500
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity, Muscle weakness, Skel... OMIM:612069
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Babinski sign, Scoliosis, Lower limb muscle weakness, Spastic paraplegia, Gait disturba... OMIM:611225
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Distal muscle weakness, Degeneration of anter... OMIM:602433
Parkinson-Dementia Syndrome
Kyphoscoliosis, Abnormal pyramidal sign, Rigidity, Parkinsonism, Ophthalmoparesis, Morphological ... OMIM:260540
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Progressive musc... ORPHA:98902
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Myoclonus, Abnormal p... ORPHA:204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations, Limb muscle weakness, Muscle weakness OMIM:619141
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Loss of ambulation, Respiratory insufficiency due to muscle weakness OMIM:615515
Machado-Joseph Disease Type 3
Supranuclear ophthalmoplegia, Progressive cerebellar ataxia, Babinski sign, Spasticity, Distal lo... ORPHA:276244
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign, Morphological abnormality of the pyramidal tract OMIM:301840
Distal Myotilinopathy
Multiple joint contractures, Progressive proximal muscle weakness, EMG: myopathic abnormalities, ... ORPHA:98911
Giant Axonal Neuropathy 1, Autosomal Recessive
Distal muscle weakness, Abnormal pyramidal sign, Scoliosis, Morphological abnormality of the pyra... OMIM:256850
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity, Muscle weakness, Skeletal muscle ... OMIM:611105
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:276435
Spastic Paraplegia 3, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Scoliosis, Lower limb muscle weak... OMIM:182600
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Distal amyot... OMIM:617018
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Muscle weakness, Slurred speech ORPHA:401953
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Babinski sign, Lower limb spasticity, Bulbar palsy, Achi... OMIM:615290
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Spasticity, Muscle weakness, Fasciculations, Skeletal muscle atrophy OMIM:614808
Duchenne Muscular Dystrophy
Flexion contracture, Calf muscle hypertrophy, Scoliosis, Progressive muscle weakness, Waddling ga... ORPHA:98896
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Inability to walk, Abnormal enzyme/coenzyme activity, Myoclonus, Scoliosis, Lower lim... ORPHA:2590
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Distal muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Di... OMIM:607641
Blepharonasofacial Malformation Syndrome
Telecanthus, Epicanthus, Lacrimation abnormality, Abnormal eyelash morphology, Cryptorchidism, Bl... ORPHA:1252
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Dystonia 9
Abnormal pyramidal sign, Morphological abnormality of the pyramidal tract, Spastic paraplegia, Ch... OMIM:601042
Amyotrophic Lateral Sclerosis 9
Distal muscle weakness, Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy OMIM:611895
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse eyebrow, Alopecia, Hypohidrosis, Hypothyroidism, Lacrimation abnormalit... ORPHA:1882
Autosomal Dominant Spastic Paraplegia Type 73
Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb spasticity, Degenerati... ORPHA:444099
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Gowers sign, Left ventricular hypertrophy, Facial palsy, Scapul... ORPHA:169186
Spastic Paraplegia 7, Autosomal Recessive
Cerebral cortical atrophy, Spastic ataxia, Dysmetria, Impaired vibration sensation in the lower l... OMIM:607259
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the lower limbs,... OMIM:604360
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction, Skeletal muscle atrophy, Somatic s... OMIM:612577
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... ORPHA:254361
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Morphological abnormality of the pyramida... OMIM:608768
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Babinski... OMIM:603516
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Respiratory insufficiency due to muscle weakness, Hepatomegaly, Progressive mu... OMIM:613561
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Loss of ambulation, Decreased level of coenzyme Q10 in skeletal muscle, Hepatic failure, ... OMIM:607426
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Blepharitis, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL choleste... OMIM:616834
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, Parkinsonism with favorable response to dopaminergic medication, Bradykine... OMIM:157640
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level, M... OMIM:202150
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Decreased lacrimation, Keratoconus, Hypoalbuminemia, Decreased circulating... OMIM:242150
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Distal sensory impairment, Spinal muscular atrophy, Tremor, Difficulty w... OMIM:615048
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inc... OMIM:606070
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Corticospinal tract atrophy, Myopathy, Proximal muscle weakness OMIM:551500
Spinocerebellar Ataxia Type 38
Distal muscle weakness, Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cer... ORPHA:423296
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Distal muscle weakness, Spinal muscular atrophy, Distal amyotrophy, Tremor, P... OMIM:182980
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Quadriceps muscle weakness, Babinski sign, Paresis of extensor muscles of the big toe, Distal low... ORPHA:99947
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory ataxia, Cerebral atrophy, EMG: myopathic abnormalities, Parkinsonism, Progressive externa... OMIM:609286
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Blepharitis, Lacrimal duct atresia, Ankyloblepharon, Supernumerary nipple, Sparse eyelashes, Spar... OMIM:106260
Spinocerebellar Ataxia 13
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Morphological abnormality of... OMIM:605259
X-Linked Charcot-Marie-Tooth Disease Type 3
Intrinsic hand muscle atrophy, Hand muscle weakness, Inability to walk, Spastic paraparesis, Prox... ORPHA:101077
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Kyphosis, Inability to walk, Cerebral atrophy, Paucity of anterior horn motor ne... OMIM:611890
Wilson Disease
Failure to thrive, Clumsiness, Hepatomegaly, Back pain, Acute hepatic failure, Proximal muscle we... ORPHA:905
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Blepharitis, Ectropion, Folliculitis, Sparse eyebrow, Sparse eyelashes, Nail dystrophy... OMIM:308800
Arts Syndrome
Progressive muscle weakness, Ataxia, Spinal cord posterior columns myelin loss, Tetraplegia OMIM:301835
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Spastic Paraplegia 8, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb muscle weakness, Spast... OMIM:603563
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... ORPHA:178400
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal motor evoked potentials, Abnormality of visual evoked ... ORPHA:320401
Keratoendotheliitis Fugax Hereditaria
Keratitis, Epiphora, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Infantile Refsum Disease
Failure to thrive, Ataxia, Hepatomegaly, Progressive muscle weakness, Spasticity, Facial palsy ORPHA:772
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy, Bulbar palsy, Babinski sign, Pa... OMIM:615911
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hepatic steatosis, Hepatomegaly, Hepatic failure OMIM:617872
Nemaline Myopathy 7
Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Gowers sign, Weakness of facial musculatur... OMIM:610687
Autosomal Dominant Spastic Paraplegia Type 41
Hand muscle weakness, Lower limb amyotrophy, Degeneration of the lateral corticospinal tracts, Pr... ORPHA:320355
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Elevated circulating alkaline phosphatase concentration, Rimmed va... OMIM:615426
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Blepharitis, Corneal opacity, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse b... OMIM:602400
Myopathy, Myofibrillar, 4
Progressive proximal muscle weakness, EMG: myopathic abnormalities, Myofibrillar myopathy, Progre... OMIM:609452
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Ataxia, Neuronal loss in central nervous system, Hepatomegaly, Micronodular cirrhosis... OMIM:203700
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal muscle weakness, Distal amyotrophy, Tremor, Difficulty walking, Vocal cord paresis, Vocal ... OMIM:158580
L-2-Hydroxyglutaric Aciduria
Gliosis, Abnormal pyramidal sign, Corpus callosum atrophy, Morphological abnormality of the pyram... OMIM:236792
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Loss of ambulation, Skeletal muscle autophagosome accumulation, Rimmed vacuole... OMIM:619518
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Frontotemporal cerebral atrophy, Astrocytosis, Gait disturbance, Fasciculations... ORPHA:275864
Aicardi-Goutieres Syndrome 1
Inability to walk, Hepatomegaly, Multiple gastric polyps, Cerebral atrophy, Splenomegaly, Poor he... OMIM:225750
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Blepharitis, Folliculitis, Sparse eyebrow, Sparse eyelashes, Alopecia, Cataract, Nail ... OMIM:612843
Myopathy, Spheroid Body
Broad-based gait, Distal muscle weakness, Neck flexor weakness, Tremor, Waddling gait, Muscle wea... OMIM:182920
Autosomal Dominant Spastic Paraplegia Type 12
Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb amyotroph... ORPHA:100993
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Frontonasal Dysplasia 2
Short palpebral fissure, Sparse eyebrow, Sparse eyelashes, Upslanted palpebral fissure, Sparse ha... OMIM:613451
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Hypohidrosis, Decreased lacrimation, Uveitis, Cataract, Male hypog... ORPHA:90321
Clouston Syndrome
Blepharitis, Sparse eyebrow, Alopecia, Sparse eyelashes, Brittle hair, Absent pubic hair, Alopeci... OMIM:129500
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Spastic Paraplegia 4, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb muscle weakness, Spast... OMIM:182601
Focal Facial Dermal Dysplasia Type Iii
Sparse hair, Abnormal hair pattern, Downslanted palpebral fissures, Epicanthus, Lacrimation abnor... ORPHA:1807
Keratosis Pilaris Atrophicans
Absent eyelashes, Epiphora, Sparse eyebrow OMIM:604093
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor, Diffuse cerebral atrophy, Gait disturbance OMIM:300660
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619665
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Fatigable weakness of swallowing muscles, Neurodegeneration, Fatig... ORPHA:803
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Exocrine pancreatic insufficiency, Hypoplasia of penis, Hypoproteinem... ORPHA:2315
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Limb... ORPHA:370
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Epiphora, Generalized opacification of the cornea, Blepharospasm, Co... ORPHA:171673
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Abnormal amplitude of pattern reversal visual... OMIM:125250
Canavan Disease
Abnormality of retinal pigmentation, EEG abnormality, Abnormality of visual evoked potentials, Op... ORPHA:141
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Primary Lateral Sclerosis, Adult, 1
Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic tetraparesis, ... OMIM:611637
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormality of the dorsal column of the spinal cord, Intrinsic hand muscle atrophy, Ataxia, Decre... OMIM:302900
Sandhoff Disease
Kyphosis, Failure to thrive, Ataxia, Hepatomegaly, Splenomegaly, Muscle weakness ORPHA:796
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Micronodular cirrhosis, Truncal ataxia, Difficulty walking, Jaundice, Hypertonia, A... ORPHA:309854
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Hypoplasia of the uterus, Decreased serum testosterone concentration, Mi... OMIM:614841
Multifocal Motor Neuropathy
Progressive muscle weakness, Limb muscle weakness, Weakness of long finger extensor muscles, Fasc... ORPHA:641
Roussy-Lévy Syndrome
Intrinsic hand muscle atrophy, Clumsiness, Kyphoscoliosis, Limb ataxia, Impaired vibratory sensat... ORPHA:3115
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Ataxia, Distal muscle weakness, Scoliosis, Gait disturbance, Tremor, Impaired pain sens... ORPHA:101078
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Kyphosis, Ataxia, Inability to walk, Lumbar hyperlordosis, Cerebral atrophy, Sc... OMIM:616756
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Abnormal motor neuron morphology, Impaired pain sensation, Impaired... DECIPHER:29
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Decreased mitochondrial number, Congenital ptosis ORPHA:352470
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Lacrimation abnormality ORPHA:1135
Flotch Syndrome
Blepharitis, Sparse eyelashes, Abnormal eyelash morphology, Inflammatory abnormality of the eye, ... ORPHA:2045
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking OMIM:619024
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp... ORPHA:240094
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Failure to thrive, Diaphragmatic weakness, Axonal degeneration, Small for gestational age, Distal... OMIM:604320
Infantile Liver Failure Syndrome 1
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... OMIM:615438
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Upper limb spasticity, Cerebral atrophy, Impaired vibration sensation in the lower limb... OMIM:614409
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal muscle weakness, Distal amyotrophy, Tremor, Muscle weakness, Skeletal muscle atrophy OMIM:614369
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormal vagina morphology, Hypopigmentation of hair, Telecanthus, L... ORPHA:3440
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular schwannoma OMIM:603641
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Idiopathic Camptocormia
Spinal canal stenosis, Amyotrophic lateral sclerosis, Cerebral atrophy, EMG: myopathic abnormalit... ORPHA:1320
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality of visual evok... ORPHA:1215
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Flexion contracture, Distal muscle weakness, Babinski sign, Scoliosis, Foot dorsiflex... OMIM:609260
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Blepharitis, Sparse eyelashes, Sparse body hair, Hypohidrosis, Slow-growing hair OMIM:618535
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Limb-Mammary Syndrome
Absent nipple, Blepharitis, Lacrimal duct atresia, Sparse eyebrow, Alopecia, Bilateral breast hyp... ORPHA:69085
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Multiple joint contractures, Loss of ambulation, Bradykinesia, Cerebral a... ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Distal muscle weakness, Myoclonus, Babinski sign, Distal amyotrophy, Frequent falls, Trem... OMIM:607317
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Failure to thrive, Progressive external ophthalmoplegia, Progressive muscle weakness, Elevated he... OMIM:610131
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619203
Congenital Disorder Of Glycosylation, Type Iih
Ataxia, Elevated circulating aspartate aminotransferase concentration, Scoliosis, Cerebellar atro... OMIM:611182
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Tremor, Distal upper limb amyotrophy, Distal lower... ORPHA:101075
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:217012
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Increased variability in muscle ... OMIM:300718
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy OMIM:615945
Vernal Keratoconjunctivitis
Abnormal cornea morphology, Corneal neovascularization, Abnormal conjunctiva morphology, Lacrimat... ORPHA:70476
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Periphera... OMIM:617519
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy, Distal s... OMIM:618387
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemiparesis, Hemolytic anemia, Hepatitis,... ORPHA:444463
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Heterochromia iridis, Hypopigmentation of hair, Hypohidrosis, Teleca... ORPHA:163746
Hemochromatosis, Type 4
Cirrhosis, Anemia, Hepatic steatosis, Hepatomegaly OMIM:606069
Parkinson Disease 17
Akinesia, Bradykinesia OMIM:614203
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Ovarian Dysgenesis 2
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... OMIM:300510
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Inability to walk, Astrocytosis, Difficulty walking, Facial hypotonia OMIM:611087
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cerebral atrophy, Progressive proximal muscle weakness, Hyperkinetic movements, Truncal ataxia, C... ORPHA:369847
Eec Syndrome
Keratitis, Blepharitis, Thick eyebrow, Decreased response to growth hormone stimulation test, Spa... ORPHA:1896
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia OMIM:615889
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Mildly elevated creatine kinase ORPHA:457050
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fib... ORPHA:663
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Abnormality of the twelfth ... ORPHA:268882
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Hypochromic anemia, Pappenheimer bodies, Generalized limb muscle atrophy, Prog... OMIM:600462
Dacryocystitis-Osteopoikilosis Syndrome
Dacryocystitis, Lacrimation abnormality ORPHA:1562
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Hepatomegaly, Hepatic failure, Splenomegaly, Distal sensory impairment, Frequent falls, T... OMIM:616719
Poikiloderma With Neutropenia
Blepharitis, Sparse eyebrow, Skin rash, Elevated circulating creatine kinase concentration, Recur... OMIM:604173
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Neuronal loss in central nervous system, Hepatomegaly, Cerebral atrophy, Myoclonus, Abnor... OMIM:615924
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Familial Congenital Mirror Movements
Clumsiness, Poor fine motor coordination, Morphological abnormality of the corticospinal tract, C... ORPHA:238722
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Decreased mit... ORPHA:352447
Congenital Fiber-Type Disproportion Myopathy
Flexion contracture of finger, Weakness of facial musculature, Fatigable weakness of bulbar muscl... ORPHA:2020
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Ataxia, Short neck, Tremor, Muscle weakness OMIM:618951
Abcd Syndrome
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impairment, Aganglio... OMIM:600501
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmentation of hair, Telecanthus, Lacrimation abnormality, White eyebrow, Whi... ORPHA:894
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Tip-toe gait, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic ... OMIM:606612
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Incr... ORPHA:264580
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Highly arched e... OMIM:110100
Satoyoshi Syndrome
Amenorrhea, Alopecia universalis, Abnormal hair morphology, Hypoplasia of the ovary, Hypoplasia o... ORPHA:3130
Ataxia-Telangiectasia-Like Disorder 2
Ataxia, Flexion contracture, Neurodegeneration, Progressive muscle weakness, Muscle weakness, Uns... OMIM:615919
Nasopalpebral Lipoma-Coloboma Syndrome
Epiphora, Sparse eyebrow, Upper eyelid coloboma, Absent lacrimal punctum, Lipomas of eyelids, Ect... OMIM:167730
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Pelvic girdle muscle we... ORPHA:79240
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Oocyte Maturation Defect 10
Female infertility OMIM:619176
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Sparse pubic hair, Gonadal dysgenesis, Aplasia/hypoplasia of th... ORPHA:243
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Epiphora, Corneal dystrophy OMIM:122100
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Limb muscle weakness, Progressive gait atax... OMIM:607458
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration, Recurrent skin infections, Hypohidrosis, Decreased lacrimation OMIM:616488
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism OMIM:600274
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Obesity, Jaundice OMIM:234350
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Loss of ambulation, Ataxia, Distal muscle weakness, Scoliosis, Foot dorsiflexor weaknes... OMIM:618124
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase conc... OMIM:618805
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Kyphosis, Ataxia, Skeletal muscle hypertrophy, Scoliosis, Gait disturbance, Tremor, ... ORPHA:99014
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand muscle weakness, Dysmetria, Hand tremor, Axonal degeneration, Tip-toe gait, Dis... OMIM:302800
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... ORPHA:848
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Isolated Congenital Alacrima
Keratitis, Alacrima, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Corneal e... ORPHA:91416
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... OMIM:300635
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Inability to walk, Decreased body weight, Macroglossia, Flexion contracture... ORPHA:258
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Progressive cerebellar ataxia, Babinski sign... ORPHA:137898
Premature Ovarian Failure 13
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Olmsted Syndrome, X-Linked
Alopecia totalis, Blepharitis, Posterior blepharitis OMIM:300918
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Ifap Syndrome 2
Keratitis, Posterior blepharitis, Atrichia, Sparse hair, Cataract, Nail dystrophy, Angular cheili... OMIM:619016
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Epithelial Recurrent Erosion Dystrophy
Epiphora, Corneal erosion OMIM:122400
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Babinski sign, Spasticity of facial muscles, Spastic dysarthria, Spast... OMIM:606353
Dk1-Cdg
Progressive muscle weakness, Elevated hepatic transaminase, Failure to thrive, Abnormal enzyme/co... ORPHA:91131
Paroxysmal Hemicrania
Epiphora, Palpebral edema, Conjunctival hyperemia, Diabetes mellitus, Rhinitis, Ptosis ORPHA:157835
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failur... OMIM:278000
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Corneal stromal edema, Recurrent corne... ORPHA:137596
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
17Q23.1Q23.2 Microdeletion Syndrome
Blepharitis, Chronic otitis media, Epicanthus, Long eyelashes, Shawl scrotum, Highly arched eyebrow ORPHA:261279
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Lacrimation abnormality, Hypohidrosis ORPHA:1484
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Primary amenor... ORPHA:2232
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Ataxia, Neuronal loss in central nervous system, Hepatomegal... ORPHA:363400
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Muscle ... OMIM:616471
Xeroderma Pigmentosum
Keratitis, Blepharitis, Ectropion, Ankyloblepharon, Alopecia, Conjunctival telangiectasia, Opacif... ORPHA:910
Spinocerebellar Ataxia 23
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Impaired vibration sensation in ... OMIM:610245
Behr Syndrome
Hamstring contractures, Ataxia, Dysmetria, Babinski sign, Adductor longus contractures, Progressi... OMIM:210000
Lichen Planus Pemphigoides
Blepharitis, Conjunctivitis ORPHA:254478
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Sunct Syndrome
Epiphora, Increased tear production, Palpebral edema, Conjunctival hyperemia, Episodic hyperhidro... ORPHA:57145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Gowers sign, Internally nucleated skeletal muscle fibers, Axonal degeneration, Proximal... OMIM:618138
Alacrima, Congenital, Autosomal Dominant
Punctate corneal epithelial erosions, Alacrima, Lacrimal gland hypoplasia, Lacrimal punctal atres... OMIM:103420
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Impotence, Hypoplasia of the ovary, Cryptorchidism, Hypoplasia of the ut... ORPHA:432
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Cerebellar atrophy,... OMIM:615768
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Dyskeratosis Congenita
Neoplasm of the pancreas, Blepharitis, Periodontitis, Abnormal eyebrow morphology, Sparse hair, A... ORPHA:1775
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:617862
Kid Syndrome
Keratitis, Sparse hair, Sparse eyebrow, Acne inversa, Punctate keratitis, Recurrent cutaneous fun... ORPHA:477
Lopes-Maciel-Rodan Syndrome
Hypertonia, Kyphosis, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Scol... OMIM:617435
Moebius Syndrome
Blepharitis, Corneal opacity, Hypogonadotropic hypogonadism, Epicanthus, Breast aplasia, Ptosis ORPHA:570
Atopic Keratoconjunctivitis
Keratitis, Blepharitis, Corneal opacity, Corneal neovascularization, Chemosis, Loss of eyelashes,... ORPHA:163934
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame... OMIM:615300
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Hepatomegaly, Micronodular cirrhosis, Progressive proximal muscle weakness, EMG: myopathi... ORPHA:98907
Meningioma
Amenorrhea, Enlarged pituitary gland, Impotence, Decreased serum testosterone concentration, Redu... ORPHA:2495
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Cerebral cortical atrophy, Poor fine motor coordination, Dysmetria, Brain atr... ORPHA:79263
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Epiphora, Irregular astigmatism, Recurrent cor... ORPHA:293381
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Kyphoscoliosis, First dorsal interossei muscle weakness, Distal mu... OMIM:619574
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Epicanthus, Lacrimation abnormality, Low posterior hairline, Vaginal hernia ORPHA:2916
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... ORPHA:226307
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Progressive proximal muscle weakness, Small for gestational age OMIM:300076
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Alacrima, Hypohidrosis, White eyebrow, White eyelashes, Decreased lacrimation, Heterochromia irid... OMIM:609136
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Cerebral atrophy, Distal muscle weakness, Weakness of facial musculature, Tremor, Proxima... OMIM:618637
Corneal Dystrophy, Meesmann, 2
Epiphora, Recurrent corneal erosions OMIM:618767
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigr... OMIM:600116
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing, Poor head control OMIM:619561
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis, Distal sensory impairment, Foot dorsiflexor weakness, Tremor, Ankle flexion contr... OMIM:616668
Graft Versus Host Disease
Inflammatory abnormality of the skin, Hyperbilirubinemia, Maculopapular exanthema, Chronic hepati... ORPHA:39812
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hirsutism, Hypoplasia of the uterus, Thick eyebrow, Increased serum t... ORPHA:247768
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Scolio... OMIM:612199
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Diaphragmatic weakness, Increased endomysial connective tissue, Abnormal m... ORPHA:75840
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Nonprogressive muscular atrophy, Distal muscle weakness, Scoliosis, Sp... OMIM:600175
Narp Syndrome
Ataxia, Cerebral cortical atrophy, Babinski sign, Myoclonic spasms, Progressive gait ataxia, Prox... ORPHA:644
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Neutral Lipid Storage Myopathy
Hepatomegaly, Difficulty walking, Fatty replacement of skeletal muscle, Progressive distal muscle... ORPHA:98908
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy OMIM:141500
Supranuclear Palsy, Progressive, 1
Gait imbalance, Senile plaques, Neuronal loss in central nervous system, Axial dystonia, Bradykin... OMIM:601104
Lacrimal Duct Defect
Sinusitis, Epiphora, Lacrimal duct atresia, Dacryocystitis, Conjunctivitis, Dacryocystocele OMIM:149700
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Myopathy, Centronuclear, 2
Kyphosis, Respiratory insufficiency due to muscle weakness, Gowers sign, Flexion contracture, EMG... OMIM:255200
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Blue irides, Sparse eyebrow, Facial hirsutism, Central diabetes insipidus, Blepharitis, Fair hair... OMIM:604292
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle weakness, Gliosis, Trophic limb changes, Degeneration of anterior horn cells, Par... OMIM:118301
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Increased intramyocellular lipid droplets, Tremor, Ce... OMIM:612016
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology OMIM:618378
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Truncal ataxia, Gait disturbance, Difficulty walking, Gait ataxia ORPHA:98764
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Ataxia, Eczema, Facial myokymia, Tongue fasciculations OMIM:620007
Sialidosis Type 2
Kyphosis, Ataxia, Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Tremor, Muscl... ORPHA:87876
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Gliosis, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordi... OMIM:213200
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Dihydropyrimidinase Deficiency
Reduced dihydropyrimidine dehydrogenase level, Abnormal pyramidal sign, Morphological abnormality... OMIM:222748
Boucher-Neuhauser Syndrome
Ataxia, Spinocerebellar atrophy, Intention tremor, Distal amyotrophy, Gait ataxia, Abnormal upper... OMIM:215470
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Ataxia, Parkinsonism with favorable response to dopam... ORPHA:254886
Chondroectodermal Dysplasia With Night Blindness
Epiphora, Otitis media, Nail dystrophy, Abnormal hair morphology, Hyperhidrosis ORPHA:319195
Friedreich Ataxia 2
Abnormality of the dorsal column of the spinal cord, Ataxia, Impaired vibratory sensation, Babins... OMIM:601992
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Scoliosi... OMIM:270500
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Broad-based gait, Kyp... OMIM:181405
Classic Progressive Supranuclear Palsy Syndrome
Decreased lacrimation, Blepharospasm, Conjunctival hyperemia ORPHA:240071
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:616829
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... ORPHA:391411
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cerebral atrophy, Intention tr... ORPHA:98762
Charcot-Marie-Tooth Disease Type 1F
Flexion contracture of finger, Inability to walk, Limb ataxia, Proximal muscle weakness in lower ... ORPHA:101085
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Abnormal mitochondrial morphology OMIM:618528
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse hair, Sparse eyebrow, Blue irides, Central diabetes insipidus, Blepharitis, Fair hair, Hyp... OMIM:129900
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Aspiration pneumonia, Limb fasciculations, Lower limb muscle weakness, Distal ... ORPHA:90117
Dyskeratosis Congenita, X-Linked
Blepharitis, Premature graying of hair, Epiphora, Alopecia, Sparse eyelashes, Hypospadias, Phimos... OMIM:305000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Axonal degeneration, Scoliosis, Truncal ataxia, Chorea, ... OMIM:208920
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Flexion contracture of finger, Inability to walk, Brain atrophy, Proximal muscle weakness in lowe... ORPHA:466768
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Nasolacrimal Duct Cyst
Abnormal lacrimal sac morphology, Epiphora, Corneal astigmatism, Chronic irritative conjunctiviti... ORPHA:141083
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology OMIM:183020
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Cerebral atrophy, Myoclonus, Babinski sign, Gait disturbance, Abnormal upper motor neuro... OMIM:221770
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Diffuse cerebral atrophy, Cerebellar atrophy, Abnormali... OMIM:615362
Ovarian Fibrothecoma
Increased serum testosterone level, Hirsutism, Abnormal endometrium morphology, Metrorrhagia, Per... ORPHA:314478
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Oculopharyngodistal Myopathy 3
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... OMIM:619473
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Flexion contracture, Dysmetria, Intention tremor, Cerebellar gliosis, Myoclon... OMIM:616505
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Spastic paraparesis, Axonal degeneration, Dysd... OMIM:615157
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology OMIM:300438
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Cockayne Syndrome A
Thymic hormone decreased, Sparse hair, Micropenis, Irregular menstruation, Dry hair, Opacificatio... OMIM:216400
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Delayed menarche, Abnormality of the mitochondrion, Bilateral ptosis ORPHA:330050
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Leukonychia Totalis
Adenoma sebaceum, Blepharitis, Abnormal eyelash morphology, Type II diabetes mellitus ORPHA:2387
Herpes Simplex Virus Stromal Keratitis
Keratitis, Corneal perforation, Epiphora, Corneal stromal edema, Descemet Membrane Folds, Herpeti... ORPHA:137599
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Spinocerebellar atrophy ORPHA:95433
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly ORPHA:163596
Familial Hyperprolactinemia
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Myopathy OMIM:618234
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Cockayne Syndrome
Corneal ulceration, Abnormal cornea morphology, Band keratopathy, Cryptorchidism, Alacrima, Absen... ORPHA:191
Cyanide-Induced Parkinsonism-Dystonia
Cerebral cortical atrophy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling... ORPHA:306692
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
X-Linked Intellectual Disability, Hedera Type
Action tremor, Inability to walk, Extrapyramidal muscular rigidity, Dysmetria, Left ventricular h... ORPHA:93952
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... OMIM:617156
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Blepharitis, Cheilitis, Pustule, Alopecia, Corneal erosion, Conjunct... ORPHA:37
Ane Syndrome
Multiple joint contractures, Kyphoscoliosis, Lipoatrophy, Motor neuron atrophy, Generalized amyot... ORPHA:157954
Atypical Rett Syndrome
Kyphosis, Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Scoliosis, St... ORPHA:3095
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... ORPHA:347
Sea-Blue Histiocytosis
Blepharitis ORPHA:158029
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98853
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... ORPHA:98763
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic... OMIM:613812
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Ataxia, Dysmetria, Limb ataxia, Scoliosis, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:610743
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Weakness of facial musculature, Increased variability in muscle fibe... ORPHA:536516
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Paroxysmal Extreme Pain Disorder
Lacrimation abnormality OMIM:167400
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Ataxia, Giant cell hepatitis, Camptodactyly of finger, Jaundice OMIM:214980
Usher Syndrome Type 1
Sensorineural hearing impairment, Cerebral cortical atrophy, Vestibular hypofunction, Abnormal co... ORPHA:231169
Allan-Herndon-Dudley Syndrome
Ataxia, Kyphoscoliosis, Poor head control, Brain atrophy, Flexion contracture, Small for gestatio... ORPHA:59
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Impaired vibratory sensation, Limb dystonia, Clonus, Impaired propri... ORPHA:319199
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Hirsutism, Gonadal dysgenesis with fe... ORPHA:206484
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination, Obesity OMIM:614947
Nasopalpebral Lipoma-Coloboma Syndrome
Epiphora, Corneal opacity, Sparse eyebrow, Lipomas of eyelids, Hamartoma of the orbital region, T... ORPHA:2399
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98855
X-Linked Agammaglobulinemia
Failure to thrive, Neoplasm, Osteomyelitis, Sinusitis, Cellulitis, Skin rash, Anemia, Chronic oti... ORPHA:47
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal muscular rigidity, Ataxia, Resting tremor, Increased variability in mu... ORPHA:401768
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Distal amyotrophy, Tremor, Frequent falls, Gait ataxia... OMIM:611302
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Ataxia, Upper motor neuron dysfunction, Clumsiness, Dysmetria, Impaired vibratory sensa... ORPHA:88644
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Cerebellar atrophy, Type 2 muscle fi... OMIM:619028
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Kyphoscoliosis, Br