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Gene: Sod1 MGI:98351

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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

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IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... OMIM:105400
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigabl... ORPHA:803
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598

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
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Hand tremor, Degener... OMIM:253400
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv... ORPHA:225154
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Generalized amyotrophy, Loss of ambulation, Scapular winging, Lumbar hyperlordosis, El... OMIM:167320
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, ... OMIM:608627
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... OMIM:205100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Amyotrophic late... OMIM:613954
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... OMIM:228300
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... OMIM:300257
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Proximal muscle weakness, Cent... OMIM:271150
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Neck flexor weakness, Clonus, Chorea, Upper-limb joint contracture, Opis... ORPHA:300605
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... OMIM:159950
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated musc... OMIM:620285
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Spastic Paraplegia 2, X-Linked
Lower limb spasticity, Skeletal muscle atrophy, Degeneration of the lateral corticospinal tracts,... OMIM:312920
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Distal muscle weakness, Hyperlordosis, Proximal mus... ORPHA:52430
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal pun... ORPHA:572333
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Fatty replacement of skeletal muscle, Progressive muscle... OMIM:620249
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb spasticity, Amyotrophic lateral sclerosis, Loss of ambulation, Lower limb muscle weakn... OMIM:614373
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal muscle weakness, Axonal degeneration, Hand tremor, Distal sensory impairment, Degenerati... OMIM:604484
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... ORPHA:59135
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of pattern vis... OMIM:616648
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Oculopharyngodistal Myopathy
Loss of ambulation, Recurrent aspiration pneumonia, Foot dorsiflexor weakness, Distal lower limb ... ORPHA:98897
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Weakness due to upp... ORPHA:275872
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Distal lower limb amyotrophy, Inability to walk, Progressive proxim... ORPHA:2596
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... OMIM:105400
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Spinal muscular atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, C... OMIM:607596
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Skeletal muscle atrophy, Kyphosis, Inability to walk, Babinski sign, Spast... OMIM:611225
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, ... OMIM:248800
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Adult Krabbe Disease
Abnormal circulating enzyme concentration or activity, Somatic sensory dysfunction, Broad-based g... ORPHA:206448
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... ORPHA:100989
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... OMIM:253550
Distal Anoctaminopathy
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... ORPHA:399096
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia OMIM:300857
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100999
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:171863
Autosomal Dominant Spastic Paraplegia Type 38
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Peroneal muscle atrophy,... ORPHA:171617
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal muscle weakness, Re... OMIM:602099
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Desminopathy
Thoracic kyphoscoliosis, Neck flexor weakness, Spinal rigidity, Respiratory insufficiency due to ... ORPHA:98909
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Epicanthus, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing horm... OMIM:619761
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:171612
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle... ORPHA:178400
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Dysesthesia, Abnormal pyramidal tract morphology, Gait ataxia, Paresthesia, Abno... ORPHA:356
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Proximal amyotrophy, Gait disturbance, Fasciculations, Neuronal lo... OMIM:608030
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Fasciculations, Muscle... ORPHA:65684
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Waddling gait, Distal muscle weakness, Spinal muscular at... OMIM:611067
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... ORPHA:95434
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Cataract, Hypogonadism, Abnormality of the ovary, Ptosis ORPHA:1875
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Gowers sign... ORPHA:610
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Abnormal circulating enzyme concentration ... ORPHA:2590
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... OMIM:308750
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... ORPHA:412066
Triosephosphate Isomerase Deficiency
Normocytic anemia, Skeletal muscle atrophy, Tremor, Progressive muscle weakness, Cholecystitis, C... OMIM:615512
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Parkinsonism... OMIM:105500
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Abnormal pyramidal tract morphology, Babinski sign, Spasti... ORPHA:83629
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad... OMIM:308700
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Spastic Paraplegia 3, Autosomal Dominant
Distal lower limb amyotrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tr... OMIM:182600
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:614842
Spastic Paraplegia 7, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Lower limb spasticity, Waddling gait, Degeneration of the lat... OMIM:607259
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... OMIM:616437
Spastic Paraplegia 11, Autosomal Recessive
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Degeneration of the lateral corticospinal... OMIM:604360
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu... ORPHA:600
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... ORPHA:247604
Spastic Paraplegia 8, Autosomal Dominant
Low back pain, Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski ... OMIM:603563
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Impaired distal vibration sen... ORPHA:276435
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Machado-Joseph Disease Type 3
Skeletal muscle atrophy, Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign,... ORPHA:276244
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations, Loss of ambulation, Muscle ... OMIM:613435
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Hype... OMIM:611588
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu... ORPHA:204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness, Fasciculations OMIM:619141
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo... OMIM:605355
Amyotrophic Lateral Sclerosis 19
Respiratory insufficiency due to muscle weakness, Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Blepharonasofacial Malformation Syndrome
Epicanthus, Telecanthus, Lacrimation abnormality, Abnormal eyelash morphology, Cryptorchidism, Lo... ORPHA:1252
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity, Muscle w... OMIM:611105
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness, Failure to thrive in ... ORPHA:254875
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Distal muscle weakness, Abnormal anterior horn cell mor... ORPHA:1145
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Respiratory i... ORPHA:98902
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... ORPHA:98911
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Sandhoff Disease, Adult Form
Reduced beta-hexosaminidase activity, Tremor, Focal dystonia, Upper limb muscle weakness, Gait at... ORPHA:309169
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Distal muscle weakness, Hand muscle ... OMIM:607641
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Distal amyotrophy,... OMIM:617018
Spinal Muscular Atrophy, X-Linked 2
Inguinal hernia, Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory ... OMIM:301830
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb amyotrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tr... ORPHA:444099
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Gowers sign, Axial muscle weakness, Knee flexion contracture, Steppage gait, Lower limb muscle we... OMIM:615290
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity, Muscle weakness OMIM:614808
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Muscle weakness, Gait ataxia ORPHA:401953
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Dystonia, Neuronal loss in ce... OMIM:600795
Duchenne Muscular Dystrophy
Waddling gait, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Fl... ORPHA:98896
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Neck flexor weakness, Impaired distal proprioception, Progressive muscle... OMIM:157640
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle w... OMIM:612069
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal muscle weakness, Distal amyotrophy, Spasticity OMIM:611895
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal muscle weakness, Tremor, Distal sensory impairment, Distal amyotrophy, Fiber type grouping OMIM:614369
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Proximal lower limb amyotr... OMIM:616668
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb spasticity, Proximal muscle weakness, Degeneration of the lateral corticospinal tracts... ORPHA:320355
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Lacrimation abnormality, Sparse eyebrow, Hypohidrosis, Fine hair, Dy... ORPHA:1882
Autosomal Recessive Centronuclear Myopathy
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleate... ORPHA:169186
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... OMIM:615048
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Upper motor ... OMIM:612577
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Ataxia, Tremor, Progressive muscle we... OMIM:607426
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Ataxia, Degeneration of anterior horn cells, Tongue fasciculations, Arth... ORPHA:2254
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating c... OMIM:242150
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce... OMIM:616834
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Tremor, Proximal amyot... OMIM:182980
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Somatic sensory dysfunction, Progressive distal muscle weakness, Ha... ORPHA:101077
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Corticospinal tract atrophy, Ataxia, Proximal muscle weakness OMIM:551500
Spastic Paraplegia 4, Autosomal Dominant
Low back pain, Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski ... OMIM:182601
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl... OMIM:606070
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Distal muscle weakness, Tremor, Gait ataxia, Dif... ORPHA:423296
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Neurogenic bladder, Amyotrophic lateral sclerosis, Bulbar palsy, Ataxia, Parkinsonism, Proximal m... OMIM:615911
Arts Syndrome
Progressive muscle weakness, Ataxia, Tetraplegia, Spinal cord posterior columns myelin loss OMIM:301835
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Parkinsonism, Proximal muscle weakness, Progressive muscle ... OMIM:609286
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Hepatocellular carcinoma, Progressive muscle weak... OMIM:256810
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Skeletal muscle atrophy, Distal muscle weakness, Impaired pain sensation, Tremor, S... OMIM:616719
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Progr... ORPHA:254361
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet... OMIM:617892
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hypospadias, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia, Ank... OMIM:106260
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Hepatomegaly, Clonus, Poor coordination, Abnormal pyramidal sign, S... OMIM:238970
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Short neck, Paucity of anterior ... OMIM:611890
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Folli... OMIM:308800
Wilson Disease
Back pain, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, ... ORPHA:905
Infantile Refsum Disease
Hepatomegaly, Ataxia, Facial palsy, Progressive muscle weakness, Spasticity, Failure to thrive ORPHA:772
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Scoliosis, Loss of ambul... OMIM:619518
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of visual evok... ORPHA:320401
Nemaline Myopathy 7
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Respiratory insufficiency due to muscle weak... OMIM:610687
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Elevated circulating alkaline phosp... OMIM:615426
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100993
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Hyp... OMIM:602400
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Scoliosis OMIM:213000
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... OMIM:609452
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia, Epiphora OMIM:148200
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Frontonasal Dysplasia 2
Telecanthus, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Hypohi... OMIM:613451
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Distal muscle weakness, Ataxia, Tremor, Babinski sign, Abnormal ... OMIM:607317
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness OMIM:205250
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Foll... OMIM:612843
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal muscle weakness, Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Voca... OMIM:158580
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Lower limb muscle weakne... OMIM:614409
Cockayne Syndrome Type 1
Cataract, Cryptorchidism, Uveitis, Hypohidrosis, Conjunctivitis, Increased blood urea nitrogen, M... ORPHA:90321
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Portal hypertension, Micronodul... ORPHA:309854
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigabl... ORPHA:803
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e... OMIM:129500
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Hyperlordosis, Pr... OMIM:600462
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... OMIM:301045
Keratosis Pilaris Atrophicans
Absent eyelashes, Epiphora, Sparse eyebrow OMIM:604093
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Focal Facial Dermal Dysplasia Type Iii
Epicanthus, Sparse lower eyelashes, Lacrimation abnormality, Highly arched eyebrow, Abnormal hair... ORPHA:1807
Limbal Stem Cell Deficiency
Lacrimation abnormality, Opacification of the corneal epithelium, Generalized opacification of th... ORPHA:171673
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal amplitude of pattern reversal visual evoked potentials, Progressive sensorineural hearin... OMIM:125250
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb ... OMIM:617087
Johanson-Blizzard Syndrome
Absent lacrimal punctum, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Lacrimation abnorma... ORPHA:2315
Sandhoff Disease
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Failure to thrive, Muscle weakness ORPHA:796
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, EEG abnormality, Abnormality of visual evoked... ORPHA:141
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Impaired pain sensation, Tremor, Kyphosi... ORPHA:101078
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, Progressive muscle wea... OMIM:620166
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... ORPHA:641
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Gowers sign, Proximal muscle wea... OMIM:617404
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Roussy-Lévy Syndrome
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem... ORPHA:3115
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking OMIM:619024
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Distal muscle weakness, Tremor, Babinski sign, Flexion contracture, Spasticity, Distal sensory im... OMIM:609260
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Congenital ptosis, Decreased mitochondrial number ORPHA:352470
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... OMIM:616756
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Impaired temperature sensation, Impaired pain sensation, Impaired p... DECIPHER:29
Flotch Syndrome
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat... ORPHA:2045
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Hypohidrosis, Sparse hair, Blepha... OMIM:618535
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Myositis, Parkinsonism, F... ORPHA:1320
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:619755
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor function, Fasc... ORPHA:275864
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Familial Congenital Mirror Movements
Cerebral palsy, Clumsiness, Poor fine motor coordination, Fused cervical vertebrae, Abnormal cort... ORPHA:238722
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Lacrimation abnormality, Hypogonadotropic hypogonadism ORPHA:1135
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal muscle weakness, Small for gestational age, Camptodactyly of finger, Spinal muscular atrop... OMIM:604320
Congenital Disorder Of Glycosylation, Type Iih
Cerebellar atrophy, Ataxia, Elevated circulating aspartate aminotransferase concentration, Failur... OMIM:611182
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Narp Syndrome
Ataxia, Proximal muscle weakness, Babinski sign, Progressive gait ataxia, Corticospinal tract atr... ORPHA:644
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Abnormal re... ORPHA:1215
Spinocerebellar Ataxia 38
Distal muscle weakness, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration... OMIM:615957
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Waardenburg Syndrome
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Lacrimation abnormality, Syno... ORPHA:3440
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gai... ORPHA:521406
Parkinson Disease 17
Bradykinesia, Akinesia OMIM:614203
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim... ORPHA:101075
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Limb-Mammary Syndrome
Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab... ORPHA:69085
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he... OMIM:617519
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Respiratory insufficiency due to muscle wea... OMIM:300718
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Distal muscle weakness, Ataxia, Tremor, Dysmetria, Distal sensory impairment,... OMIM:618387
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Skeletal muscle atrophy, Proximal muscle weakness, Centrally nucle... OMIM:620138
Vernal Keratoconjunctivitis
Lacrimation abnormality, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate ke... ORPHA:70476
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic gait, Spastic dysarthria, P... OMIM:606353
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Inability to walk, Astrocytosis, Difficulty walking, Slender build OMIM:611087
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Progressive proximal muscle weakness, Chorea, Cerebral atrophy, Myopathy, Hyperkinetic movements,... ORPHA:369847
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Mildly elevated creatine kinase ORPHA:457050
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Hypohidrosis, Premature grayi... ORPHA:163746
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness, Hepatosplenomegaly OMIM:614885
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... OMIM:607225
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Epiphora, Malar rash,... ORPHA:330058
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis,... OMIM:615924
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma OMIM:614328
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hyp... OMIM:203700
Poikiloderma With Neutropenia
Skin rash, Elevated circulating creatine kinase concentration, Sparse eyebrow, Recurrent pneumoni... OMIM:604173
Dacryocystitis-Osteopoikilosis Syndrome
Dacryocystitis, Lacrimation abnormality ORPHA:1562
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Vertigo, Cranial nerve compression, Abnormality of the t... ORPHA:268882
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Combined Oxidative Phosphorylation Deficiency 45
Ataxia, Short neck, Tremor, Failure to thrive, Muscle weakness OMIM:618951
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Waardenburg Syndrome Type 1
Telecanthus, White eyelashes, White eyebrow, Lacrimation abnormality, Hypopigmentation of hair, A... ORPHA:894
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
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Eec Syndrome
Entropion, Hypospadias, Decreased response to growth hormone stimulation test, Lacrimation abnorm... ORPHA:1896
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Progressive external ophthalmoplegia, Elevated hepatic transaminase, Facial p... OMIM:610131
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Should... OMIM:606612
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Aspiration pneumonia,... ORPHA:2020
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Cataract, Abn... ORPHA:1775
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... ORPHA:3130
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Blepharophimosis, Ptosis, And Epicanthus Inversus
Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse p... OMIM:110100
Ifap Syndrome 2
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d... OMIM:619016
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye... OMIM:167730
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Brain neoplasm, Parkinsonism, Temporal cortical atrophy, ... ORPHA:100070
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hypop... OMIM:600501
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism OMIM:600274
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy, Epiphora OMIM:122100
Spinocerebellar Ataxia 18
Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis... OMIM:607458
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex... ORPHA:137898
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Recurrent skin infections, Corneal scarring, Hypohidrosis, Corneal ulceration, Decreased lacrimation OMIM:616488
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... OMIM:300635
Bethlem Myopathy 2
Scapular winging, Proximal muscle weakness, Kyphosis, Flexion contracture, Myopathy, Atrophic sca... OMIM:616471
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Progressive proximal muscle weakness, Micron... ORPHA:98907
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Skeletal muscle hypertrophy, Gait... ORPHA:99014
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Increased connective tissue, ... ORPHA:258
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Dk1-Cdg
Elevated hepatic transaminase, Progressive muscle weakness, Failure to thrive, Abnormal circulati... ORPHA:91131
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Cryptorchidism, Hypohidrosis, White forelock, Heterochromia iridi... OMIM:609136
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hep... OMIM:618805
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Distal lower limb amyotrophy, Distal muscle weakness, Incoordination, Hand mu... OMIM:302800
Olmsted Syndrome, X-Linked
Posterior blepharitis, Blepharitis, Alopecia totalis OMIM:300918
Epithelial Recurrent Erosion Dystrophy
Corneal erosion, Epiphora OMIM:122400
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Distal muscle weakness, Ataxia, Impaired pain sensation, Kyphosis, Ophthalmoplegia, Unsteady gait... OMIM:618124
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Progressive muscle weakness, Unstead... OMIM:615919
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Neurotrophic Keratopathy
Anterior uveitis, Diabetes mellitus, Lacrimation abnormality, Corneal scarring, Corneal stromal e... ORPHA:137596
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Gowers sign, Cholecystitis, Hepatic s... ORPHA:98908
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... ORPHA:352447
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... OMIM:601455
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Bradykinesia, Falls, Gait imbalance, Loss of ambulatio... ORPHA:240094
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Proximal lower limb amyotrophy, Distal muscle weak... OMIM:600175
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Resting tremor, Lower limb spasticity, Distal muscle weakness, Hiat... OMIM:601162
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
17Q23.1Q23.2 Microdeletion Syndrome
Epicanthus, Highly arched eyebrow, Long eyelashes, Shawl scrotum, Chronic otitis media, Blepharitis ORPHA:261279
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... ORPHA:477
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Entropion, Cataract, Keratitis, Cryptorchidism, Ankyloblep... ORPHA:910
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Lichen Planus Pemphigoides
Conjunctivitis, Blepharitis ORPHA:254478
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, External ophthalmoplegia, Tremor, Babinski sign, Unsteady gait, Limb ataxia, ... OMIM:615768
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Lacrimation abnormality, Hypohidrosis ORPHA:1484
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Moebius Syndrome
Epicanthus, Hypogonadotropic hypogonadism, Corneal opacity, Breast aplasia, Blepharitis, Ptosis ORPHA:570
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Caudate atrophy, Ataxia, Poor motor coordinati... ORPHA:363400
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia ORPHA:98764
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... ORPHA:848
Alacrima, Congenital, Autosomal Dominant
Punctate corneal epithelial erosions, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Alacri... OMIM:103420
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hepatic failure, Hepatic steatosis OMIM:617872
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Charcot-Marie-Tooth Disease And Deafness
Distal muscle weakness, Thenar muscle atrophy, Tremor, Ankle weakness, Thenar muscle weakness, Di... OMIM:118300
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Kyphoscoliosis, Impaired pain sensation, Impaired temperature sensation, ... OMIM:619574
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness, Spastic paraplegia, Small for gestational age OMIM:300076
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Poor head control, Ata... ORPHA:79263
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Isolated Congenital Alacrima
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... ORPHA:91416
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Eczema, Kyphosis, Tongue fasciculations, Facial myokymia, Failure to thrive OMIM:620007
Paroxysmal Hemicrania
Diabetes mellitus, Palpebral edema, Rhinitis, Conjunctival hyperemia, Epiphora, Ptosis ORPHA:157835
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Sensorineural... ORPHA:52368
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Trans... OMIM:604292
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Generalized... ORPHA:75840
Myopathy, Centronuclear, 2
Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Hyperlordosis, Respiratory... OMIM:255200
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... OMIM:600116
Sunct Syndrome
Palpebral edema, Episodic hyperhidrosis, Hyperhidrosis, Increased tear production, Conjunctival h... ORPHA:57145
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Distal muscle weakness, Ataxia, Proximal muscle weakness, Tremor, External ophthalmoplegia, Cereb... OMIM:618637
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Corneal Dystrophy, Meesmann, 2
Recurrent corneal erosions, Epiphora OMIM:618767
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Trans... OMIM:129900
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Supranuclear Palsy, Progressive, 1
Limb dystonia, Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... OMIM:601104
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Müllerian Aplasia And Hyperandrogenism
Acne, Frontal balding, Synophrys, Hirsutism, Primary amenorrhea, Hypoplasia of the uterus, Facial... ORPHA:247768
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... OMIM:215470
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scoliosis, ... OMIM:615157
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Ataxia, Tremor, Splenomegaly, Kyphosis, F... ORPHA:87876
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Spinocere... OMIM:617916
Lacrimoauriculodentodigital Syndrome 2
Absent lacrimal punctum, Lacrimal duct atresia, Lacrimal duct aplasia, Conjunctivitis, Alacrima OMIM:620192
Lacrimal Duct Defect
Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele, Epiphora OMIM:149700
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Thoracic scoliosis, Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia,... OMIM:610185
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Broad-based gait, Peroneal muscle weakness, Facial palsy, Progressive distal muscle ... OMIM:181405
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Proximal muscle weakness, External op... ORPHA:254886
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Postural tremor, Parkinsonism, Action tremor, Unsteady gait, Abnormal... ORPHA:98762
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Hand muscle weakness, Impaired proprioception, Hand... ORPHA:101085
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Epicanthus, Vaginal hernia, Lacrimation abnormality, Low posterior hairline ORPHA:2916
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Conjunctival hyperemia, Decreased lacrimation ORPHA:240071
Dyskeratosis Congenita, X-Linked
Alopecia, Cataract, Sparse eyelashes, Hypospadias, Phimosis, Cryptorchidism, Hyperhidrosis, Prema... OMIM:305000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Progressive external ophthalmoplegia, Dystonia, Ataxia, Tremor, Chorea, Axona... OMIM:208920
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function OMIM:616829
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Poor head control, Ataxia, Small for gestational age, Failure to thrive ... ORPHA:59
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L... ORPHA:319199
Chondroectodermal Dysplasia With Night Blindness
Abnormal hair morphology, Hyperhidrosis, Nail dystrophy, Otitis media, Epiphora ORPHA:319195
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Flexion contracture, Dysme... OMIM:616505
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ce... OMIM:617435
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of... ORPHA:141083
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... ORPHA:98863
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Pustule, Corneal erosion, Chei... ORPHA:37
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Gait ataxia, Dysmetria, Gliosis, Spas... OMIM:213200
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Pl... OMIM:230650
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Ophthalmoplegia, Increased variabili... OMIM:619473
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... OMIM:611302
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... ORPHA:231169
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... ORPHA:466768
Cockayne Syndrome
Anhidrosis, Dry hair, Diabetes mellitus, Cataract, Band keratopathy, Cryptorchidism, Absence of p... ORPHA:191
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Increased muscle lipid content, Hepatomegaly OMIM:610717
Ane Syndrome
Multiple joint contractures, Lipoatrophy, Kyphoscoliosis, Motor neuron atrophy, Generalized amyot... ORPHA:157954
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Bilateral ptosis, Decreased circulating total IgM, Nail dystrophy, De... OMIM:620040
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal circulating hormone concentration, Abnormal ... ORPHA:314478
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Dysplastic corpus callosum, Spastic tetraplegia, Dystonia, Spa... ORPHA:599373
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology OMIM:300438
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Fatiguable weakness of proximal limb muscles, Inability to w... ORPHA:90117
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
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 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... ORPHA:93952
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Gliosis, Myoclonus, Gait disturbance, Apraxia, ... OMIM:221770
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Leukonychia Totalis
Abnormal eyelash morphology, Adenoma sebaceum, Blepharitis, Type II diabetes mellitus ORPHA:2387
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Cockayne Syndrome A
Anhidrosis, Dry hair, Cataract, Cryptorchidism, Irregular menstruation, Thymic hormone decreased,... OMIM:216400
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, ... ORPHA:464282
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Sea-Blue Histiocytosis
Blepharitis ORPHA:158029
Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:98853
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor,... ORPHA:330050
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Cryptorchidism, Hypoplasia of the ovary, Hypo... ORPHA:110
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Atypical Rett Syndrome
Total ophthalmoplegia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inabilit... ORPHA:3095
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Trisomy 8P
Cryptorchidism, Annular pancreas, Low posterior hairline, Upslanted palpebral fissure, Astigmatis... ORPHA:264450
Lacrimoauriculodentodigital Syndrome 3
Absent lacrimal punctum, Epicanthus, Absent eyelashes, Xerostomia, Lacrimal duct aplasia, Alacrima OMIM:620193
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Cel... ORPHA:47
Paroxysmal Extreme Pain Disorder
Lacrimation abnormality OMIM:167400
Deeah Syndrome
Epicanthus, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... OMIM:619004
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... ORPHA:98855
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Sparse hair, Absent eyebrow, Alopecia, Abnor... ORPHA:2273
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... OMIM:614898
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni... OMIM:614298
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... ORPHA:206484
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Neutropenia, Hepatitis, Bronchiec... ORPHA:33110
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis OMIM:620357
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... ORPHA:663
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Abnormal pyramidal sign, Dysmetr... ORPHA:48431
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrop... OMIM:618323
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... ORPHA:2399
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Poor head control, Tremor, Myoclonus, Dystonia, Failure to thrive OMIM:619651
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... ORPHA:99429
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Camptocormia, Involuntary movements, Chorea, Generalized muscle weakness, Choreoa... OMIM:606703
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Skeletal muscle atrophy,... ORPHA:88644
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cram... OMIM:128100
Adrenomyeloneuropathy
Back pain, Atrophy/Degeneration involving the corticospinal tracts, Dysesthesia, Atrophy of the s... ORPHA:139399
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra... OMIM:619260
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Ataxia, Kyphoscoliosis OMIM:619099
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type ... OMIM:619028
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Cryptorchidism, Alacrima, Long eyelashes, Micropenis, Short palpebral fissure OMIM:619005
Superficial Siderosis
Cerebellar atrophy, Atrophy of the spinal cord, Vertigo, Abnormality of the vestibulocochlear ner... ORPHA:247245
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Lacrimation abnormality, Corneal opacity, Uveal ectropion, Abnormal ... ORPHA:98973
Typical Nemaline Myopathy
Neck flexor weakness, Short neck, Fatigable weakness of distal limb muscles, Limb-girdle muscle w... ORPHA:171436
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Cockayne Syndrome B
Anhidrosis, Dry hair, Abnormal hair morphology, Cryptorchidism, Developmental cataract, Microcorn... OMIM:133540
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Proximal muscle weakness, Centrally nucleated skeletal... OMIM:618484
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Branchiootorenal Syndrome 1
Lacrimation abnormality, Lacrimal duct stenosis, Lacrimal duct aplasia, Euthyroid goiter, Gustato... OMIM:113650
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyperglycinemia OMIM:619063
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Inguinal hernia, Aplasia/Hypoplasia of the pyramidal tract OMIM:619602
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hypohidrosis, Anisocoria, Adrenal insufficiency, High anterior hairline, Alacrima, Ptosis OMIM:615510
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Epicanthus, Elevated circulating alpha-fetoprotein concentration, Synophrys, Upslanted palpebral ... ORPHA:280633
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Myoclonus,... OMIM:612016
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Facial hypotonia, Babin... OMIM:300055
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Axonal dege... ORPHA:88628
Peroxisomal Acyl-Coa Oxidase Deficiency
Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Low-set ears, Abnormality of vi... ORPHA:2971
Glycogen Storage Disease Due To Acid Maltase Deficiency
Gowers sign, Flexion contracture, Fatigable weakness of respiratory muscles, Lower limb muscle we... ORPHA:365
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Proximal muscle weakness, Centrally nucleated skel... ORPHA:401768
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Periorbital dermoid cyst, Conjunctivitis, Alacrima, Lacrimal duct stenosis OMIM:615560
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of amb... OMIM:615010
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait, A... OMIM:303350
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Ophthalmoparesis, Progressive cerebellar a... ORPHA:254881
Stuve-Wiedemann Syndrome 1
Hyperhidrosis, Opacification of the corneal stroma, Sparse hair, Short palpebral fissure, Decreas... OMIM:601559
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Opa... ORPHA:1643
Hypermanganesemia With Dystonia 2
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Sc... OMIM:617013
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A... OMIM:194072
Griscelli Syndrome
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Leukopenia, ... ORPHA:381
Helix Syndrome
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypermagnesemia, Hypohidrosis, Hypokalemia, Alacrima OMIM:617671
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Distal muscle weakness, Abnormality of the musculature of the lower ... ORPHA:329478
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Parkinsonism-Dystonia 2, Infantile-Onset
Poor head control, Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochoki... OMIM:618049
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... OMIM:615842
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Cornelia De Lange Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Curly eyelashes, Highly arched eyebrow, Cryptorchidis... ORPHA:199
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Spastic paraplegia, Distal sensory impairment, Paresthesia, Tetraparesis, Gai... OMIM:263570
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis, Muscle weakness ORPHA:85317
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Cerebral a... ORPHA:500180
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Hepatomegaly, Elevated hepatic transaminase, Speech apraxia, Clonus... ORPHA:415
Tay-Sachs Disease
Skeletal muscle atrophy, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity... ORPHA:845
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Kyphosis, Flexion contracture, Spastic tetraplegia, Myopathy, Dystonia, Failu... OMIM:618237
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Impotence, Alacrima OMIM:608088
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... OMIM:264470
Acute Disseminated Encephalomyelitis
Viral hepatitis, Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal spinal cord... ORPHA:83597
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Bradykinesia, Akinesia OMIM:619911
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... ORPHA:280356
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Neurogenic bladder, Eczema, Diastasis recti, Short neck, Progressive mus... ORPHA:488632
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... ORPHA:572
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Bulbar palsy, Limb muscle weakness OMIM:619133
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Scoliosis, Loss of ambulation OMIM:614018
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Abnormality of the menstrual cycle, Keratitis, Arthritis, Inflammation of the ... ORPHA:906
Parkinsonism-Dystonia 1, Infantile-Onset
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... OMIM:613135
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Skeletal muscle atrophy, Kyphosi... ORPHA:90324
O'Sullivan-Mcleod Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Eosinophilia, Ha... ORPHA:99965
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Acrocraniofacial Dysostosis
Telecanthus, Lacrimation abnormality, Downslanted palpebral fissures, Ptosis ORPHA:949
Cdkl5-Deficiency Disorder
Poor head control, Impaired pain sensation, Kyphosis, Gait disturbance, Scoliosis, Difficulty wal... ORPHA:505652
Familial Dysautonomia
Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Hypohidrosis, Hyperhid... ORPHA:1764
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Reduction of oligodendroglia, Writer's cramp, Tre... OMIM:312080
Crigler-Najjar Syndrome Type 1
Tremor, Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice, Oculomo... ORPHA:79234
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Legionnaires Disease
Pericarditis, Ataxia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Cellulitis, L... ORPHA:549
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Clonus, Short neck, Tremor, Splenomegaly, Le... OMIM:615673
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Scoliosis, Cerebral cortical hemiatrop... ORPHA:306669
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Ophthalmoplegia, Distal amyotrophy... OMIM:183090
Carcinoid Syndrome
Pulmonary carcinoid tumor, Small intestine carcinoid, Abnormal B-type natriuretic peptide concent... ORPHA:100093
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Tremor, Seborrheic keratosis, Flexion contracture, Squamous cell carcinoma, Keratoacantho... OMIM:278760
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Inguinal hernia, Small for gestational age, Kyphosis, Decreased body weight OMIM:618392
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Unsteady gait, Dy... OMIM:210000
Parkinson-Dementia Syndrome
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign, Ophthalmoparesis OMIM:260540
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Microcytic anemia OMIM:619013
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia, Facial palsy ORPHA:68
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism, Ptosis ORPHA:2229
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, ... ORPHA:169160
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Distal muscle weakness, Tremor, Leukocytosis, Distal sensory impairm... ORPHA:206594
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Rigidity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Hyperlordosis, Proximal muscle weakness, Kyphosis, Achilles tend... OMIM:607155
Ciliary Dyskinesia, Primary, 37
Female infertility, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Goiter OMIM:617577
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone sti... ORPHA:3464
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Progressive cerebe... ORPHA:139485
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Proximal muscle... OMIM:211530
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Lagophthalmos, Bilateral ptosis, Decreased LDL cholesterol concentration, Corneal scarring, Hypot... ORPHA:404454
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Episodic hyperhidrosis, Elevated circulating creatinine concentration, Recurrent corneal erosions... OMIM:223900
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Limb mu... ORPHA:97229
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Increased circulating lactate dehydrogenase concen... ORPHA:158061
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho... OMIM:607765
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Adrenocorticotropin receptor defect, Anisocoria, Adrenal in... OMIM:231550
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Chronic oral candidiasis, Splenomegaly, Hepatitis, Chronic hepati... OMIM:308230
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... ORPHA:96
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Abnormal pupil morphology, Lentiglobus, Periodontitis, Chroni... ORPHA:534
Shwachman-Diamond Syndrome 1
Myocardial necrosis OMIM:260400
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Respiratory insufficiency... OMIM:254090
Krabbe Disease
Abnormal flash visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, EEG ... OMIM:245200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Tremor, Gowers sign, Chorea, Hepatic steatosis, Waddling gait, Hepatomegaly, Ataxia, Hyperlordosi... OMIM:615356
Non-Specific Early-Onset Epileptic Encephalopathy
Poor head control, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, ... ORPHA:442835
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Spasticity, Ataxia, Tremor OMIM:278780
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Ophthalmop... ORPHA:1170
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole... OMIM:618641
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... OMIM:619048
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Tremor, Splenomegaly, Kyphosis, Slurred speech, Abnormal form of... ORPHA:812
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Hypochromi... ORPHA:440713
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Hear... OMIM:256600
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l... ORPHA:2363
Ataxia-Telangiectasia
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Ataxia, Tremor, Neopla... ORPHA:100
Vulvovaginal Gingival Syndrome
Abnormality of female external genitalia, Abnormality of tumor necrosis factor secretion ORPHA:83453
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Telecanthus, Astigmatism, Hooded upper eyelid, Alacrima, Ptosis OMIM:618548
Corticobasal Syndrome
Limb dystonia, Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involunta... ORPHA:454887
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Gowers sign, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle ... ORPHA:209335
Wilson Disease
Acute hepatic failure, Hepatocellular carcinoma, Tremor, Osteoarthritis, Hand tremor, Limb dyston... OMIM:277900
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in infancy, Hepato... OMIM:613385
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Kyphosis, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal ... OMIM:610743
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face OMIM:128235
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... OMIM:617145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Exaggerated startle response, Hypoplasia of the pyramidal tract, Spinal ... OMIM:253800
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, External ophthalmoplegia, Cerebral atrophy, Choreoathetosis, Lumbar kyphoscoliosi... OMIM:619422
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Baralle-Macken Syndrome
Kyphosis, Inability to walk, Obesity, Dystonia, Spasticity, Global brain atrophy OMIM:619255
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Ameno... ORPHA:2795
Rotor Syndrome
Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi... OMIM:612126
Congenital Disorder Of Deglycosylation 1
Anhidrosis, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Hyperhidrosis,... OMIM:615273
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content OMIM:232700
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Supranuclear ophthalmopl... OMIM:164500
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Generalized amy... ORPHA:171
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity ORPHA:2429
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,... ORPHA:99750
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Abnormality of the liver, Spasticity, Intention tremor OMIM:614307
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Chylomicron Retention Disease
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis, Acanth... ORPHA:71
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis OMIM:615703
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Rhabdomyolysis, Hepatitis, Leukopenia, Conjunctivitis, ... ORPHA:454836
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Hepatitis, Erythroderma, A... OMIM:304790
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... ORPHA:139402
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Distal muscle weakness, Tremor, Kyphosis, Inability to... OMIM:617988
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Brain Dopamine-Serotonin Vesicular Transport Disease
Poor head control, Dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination... ORPHA:352649
Oculopharyngodistal Myopathy 4
Distal muscle weakness, Postural tremor, Autophagic vacuoles, Tremor, External ophthalmoplegia, F... OMIM:619790
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hypertonia, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblains, He... OMIM:615846
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly... ORPHA:2137
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis, Failure to thrive OMIM:618234
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia, Alacrima OMIM:240000
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconj... OMIM:158310
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Decreased liver function, Oculomoto... OMIM:614867
Charge Syndrome
Bifid scrotum, Epicanthus, Hypogonadotropic hypogonadism, Lacrimation abnormality, Highly arched ... ORPHA:138
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Congenital Myopathy 9A
Akinesia OMIM:618822
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Distal sensory impairment, Dysmetria, Multiple li... OMIM:617675
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Abnormal circulating enzyme concentration or activity, Ataxia, Tremor, Slu... ORPHA:206443
Full Schwannomatosis
Bilateral vestibular schwannoma, Schwannoma, Peripheral schwannoma, Tinnitus, Hearing impairment ORPHA:93921
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Cerebral atrophy, Camptodactyly OMIM:618453
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, Failure to thrive OMIM:614602
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Abnormality of the adrenal glands, Alacrima ORPHA:289483
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Tremor, Hypoesthesia, Dysplastic corpus callosum, Retrobulbar optic... OMIM:619737
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Alacrima, Congenital, Autosomal Recessive
Punctate corneal epithelial erosions, Alacrima OMIM:601549
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Ankle flexion contracture, Tremor, Splenomeg... OMIM:608799
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
3-Methylglutaconic Aciduria, Type V
Normochromic microcytic anemia, Microvesicular hepatic steatosis, Elevated circulating alanine am... OMIM:610198
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Macrotia, Undetectable visual... ORPHA:436245
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Smith-Magenis Syndrome
Failure to thrive in infancy, Impaired pain sensation, Obesity, Abnormal form of the vertebral bo... ORPHA:819
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor f... OMIM:613280
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Hematological neoplasm, Keratitis, Hepatitis, ... ORPHA:1163
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Fle... OMIM:609541
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Scoliosis, Eyelid myoclonus OMIM:616421
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... OMIM:613404
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell co... ORPHA:3261
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait a... OMIM:614831
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age ORPHA:85288
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,... ORPHA:99027
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Corpus callosum atrophy, Tremor, Impaired distal vibration sensation, Ba... OMIM:616586
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Abnormal circulating porphyrin concentration, Scarring alope... ORPHA:95159
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir... ORPHA:101330
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Ataxia, Decreased body weight ORPHA:255138
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Cerebral palsy, Small for gestational age, Eczema, Kyphosis, Congenital contract... ORPHA:352490
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance, Muscle weakness OMIM:603472
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Cholestasis, Ane... ORPHA:292
Myasthenia Gravis
Hemolytic anemia, Bulbar palsy, Myositis, Pure red cell aplasia, Hepatitis, Ophthalmoparesis, Par... ORPHA:589
Juvenile Xanthogranuloma
Iritis, Blepharitis, Uveitis, Asymmetry of iris pigmentation ORPHA:158000
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Spondyloenchondrodysplasia
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thromboc... ORPHA:1855
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unste... OMIM:616795
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Splenomegaly,... ORPHA:829
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor... ORPHA:37042
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Gowers sign, Ragged-red muscle fibers, Axial muscle weakness, Generalized amy... OMIM:620351
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c... ORPHA:228360
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Proximal muscle weakness, Tremor, Gowers sign, Increased variability... ORPHA:502423
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Sensorineural hearing impairment, Optic atrophy, Undetectable visual evoked potentials, Progressi... OMIM:601338
Lacrimoauriculodentodigital Syndrome 1
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Hypopla... OMIM:149730
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... ORPHA:228426
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Ataxia, Cachexia, Kyphosis, Choreoathetosis, Gait disturbance, Scol... ORPHA:702
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Hepatitis ORPHA:363523
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hyp... ORPHA:70594
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Small for gestational age, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Inflammati... OMIM:617718
Autosomal Dominant Spastic Paraplegia Type 9A
Low back pain, Abnormality of the dorsal column of the spinal cord, Corpus callosum atrophy, Trem... ORPHA:447753
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Degeneration... OMIM:271225
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Thoracic kyphosis, Myoclonus... OMIM:619092
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Oculogyric crisis, Involuntary movements, Akinesia, Rigidity, Kypho... ORPHA:97349
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Abnormal circulating porphyrin concentration, Scarring alope... ORPHA:79277
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Immunodeficiency 56
Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis... OMIM:615207
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... OMIM:300972
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... OMIM:619386
Glutathionuria
Eczema, Tremor, Reduced gamma-glutamyltransferase level, Dysdiadochokinesis, Agenesis of corpus c... OMIM:231950
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Tremor, Inability ... ORPHA:99956
Japanese Encephalitis
Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis... ORPHA:79139
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
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic te... OMIM:617710
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Lower limb spasticity, Broad-based gait, Parkinsonism, Kyphoscoliosis, Tremor, Ob... ORPHA:3077
Gm1 Gangliosidosis
Tremor, Abnormal form of the vertebral bodies, Decreased beta-galactosidase activity, Decerebrate... ORPHA:354
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia OMIM:300894
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Sensorineural hearing impairment, Decreased nerve conduc... ORPHA:1933
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma OMIM:162260
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episod... OMIM:312170
Perry Syndrome
Bradykinesia, Short stepped shuffling gait, Akinesia OMIM:168605
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Cryptorchidism, Fine hair, Premature graying of hair, Epiphora OMIM:613990
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... ORPHA:70578
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... OMIM:209920
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Uppe... ORPHA:98805
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Generalized hypertrichosis, Recurrent pneumonia, Central hypothyroidis... ORPHA:798
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Acute Lung Injury
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated circul... ORPHA:178320
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis OMIM:608709
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... ORPHA:231226
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Axial muscle weakness, Scoliosis, Arthrogryposis multi... ORPHA:178148
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Ambiguous genitalia, Abnormal mitochondrial shape, Clitoral hypertrophy, Cataract ORPHA:543470
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Bradyk... OMIM:137440
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Truncal obesity, Hyperkinetic movem... OMIM:300957
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis OMIM:300861
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia OMIM:611126
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Abscess, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis,... ORPHA:36234
Autosomal Recessive Spastic Paraplegia Type 35
Dysmetria, Foot dorsiflexor weakness, Ophthalmoplegia, Neck muscle weakness, Oculomotor apraxia, ... ORPHA:171629
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... ORPHA:91138
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Foo... OMIM:214500
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... ORPHA:368
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Waddling gait, Left ventricular hypertrophy, Elevated circulating ... OMIM:300280
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia OMIM:609384
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Dystonia, Distal muscle weakness, Tremor, Chorea, Impaired distal vibration s... OMIM:606002
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Alacrima, Hyperhidrosis OMIM:614653
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease... OMIM:613493
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Inguinal hernia, Short neck, Splenomegaly, Hepatiti... ORPHA:584
Rift Valley Fever
Back pain, Elevated hepatic transaminase, Skin rash, Paralysis, Paraparesis, Jaundice, Hepatitis,... ORPHA:319251
Flynn-Aird Syndrome
Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis, Cerebral... ORPHA:2047
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria, Alacrima OMIM:300858
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... ORPHA:294023
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Chorea, Leukopenia, Tubulointerstitial nep... ORPHA:289390
Ovarian Fibroma
Gonadal calcification, Peritonitis, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Sparse eyelashes, Nasolacrimal duct obstruction, Nail dystrophy, Pterygium, Ep... OMIM:224230
Manganese Poisoning
Bradykinesia, Gait disturbance, Akinesia ORPHA:306682
Genitourinary And/Or Brain Malformation Syndrome
Epicanthus, Streak ovary, Clitoral hypertrophy, Hypospadias, Cryptorchidism, Uterus didelphys, Mi... OMIM:618820
Burkitt Lymphoma
Abnormality of the ovary, Hyperuricemia ORPHA:543
Peroxisome Biogenesis Disorder 2A (Zellweger)
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Cryptorchidism, Upslanted palpebral fiss... OMIM:214110
Estrogen Resistance
Increased circulating osteocalcin level, Acne, Hyperinsulinemia, Increased serum estradiol, Prima... OMIM:615363
Kilquist Syndrome
Xerostomia, Alacrima OMIM:619080
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation, Incre... OMIM:619405
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Kyphoscoliosis, Tremor, Inability to walk, Choreoathetosis, Joint contracture... OMIM:617664
Rett Syndrome
Skeletal muscle atrophy, Dystonia, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Trun... OMIM:312750
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Cholangitis, Colitis, Neutrophilia, Myelodysplasia, Leukocytosis, Hepato... ORPHA:3260
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Tremor, Hypertonia, Gait disturbance, Cerebral cortical atrophy, Anemia ORPHA:1192
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Gliosis, Supranuclear ophthalmopleg... ORPHA:683
Aceruloplasminemia
Refractory anemia, Abnormal circulating enzyme concentration or activity, Torticollis, Ataxia, Pa... ORPHA:48818
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
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Eczema, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neut... OMIM:169400
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Scoliosis, Umbi... OMIM:615834
Wieacker-Wolff Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Cerebral atrophy, Congenital foot contractures... OMIM:314580
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Diabetes mellitus, Hypothyroidism, Abnormal circulating creatine ... ORPHA:263297
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, EEG with photoparoxysmal response, Multifoc... ORPHA:168491
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Infectious encephalit... ORPHA:2552
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Mitochondrial swelling, Mildly elevated creatine kinase ORPHA:397744
Cockayne Syndrome Type 2
Hepatomegaly, Lower limb spasticity, Ataxia, Scarring, Kyphosis, Flexion contracture, Uveitis, Ga... ORPHA:90322
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Abnormality of the liv... ORPHA:254892
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia ORPHA:3240
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... ORPHA:540
Mucopolysaccharidosis, Type Iva
Waddling gait, Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, ... OMIM:253000
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Distal muscle weakness, Facial palsy, Short neck, Kyphosis, Achilles tendon cont... OMIM:301041
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... ORPHA:435651
Melioidosis
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... ORPHA:31202
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Chronic otitis media, Me... ORPHA:904
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Tremor, Inability to walk, Flexion contracture, Limb tremor, Facial dipl... OMIM:218000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Abnormal mitochondrial shape, Hypospadias, Decreased activity of mitochon... ORPHA:17
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Tremor, Kyphosis, Gait ataxia, Macroglossia, Abdominal obesity, Cer... OMIM:300354
Schwannomatosis, Vestibular
Bilateral vestibular schwannoma, Vertigo, Peripheral schwannoma, Occasional neurofibromas, Unilat... OMIM:101000
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia, Abnormality of the spleen, Abnormal mesentery m... ORPHA:93941
Benign Schwannoma
Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwannoma, Abnormality of the... ORPHA:252164
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Head titubation, Rigidity, Inability to walk, Cerebral atrophy, G... OMIM:618877
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Kyphosis, Recurrent pneumo... OMIM:203800
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... OMIM:614582
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Abnormality of the extraocular mus... ORPHA:298
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Hypsarrhythmia, Anterior creases of earlobe, Abnormality of visual evoked pote... ORPHA:314389
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Oculopharyngodistal Myopathy 1
Distal muscle weakness, Ataxia, Facial palsy, Autophagic vacuoles, Proximal muscle weakness, Trem... OMIM:164310
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Sensorineural hearing impairment, Undetec... ORPHA:423479
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Prolonged neonatal jaundice OMIM:618512
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Bardet-Biedl Syndrome 19
Hepatic steatosis OMIM:615996
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Multiple lipomas, Gait ... ORPHA:765
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thoracolumbar scoliosis, Portal hypertension, Hiatus hernia, Pancreatic cysts, Sple... OMIM:610199
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Pericarditis, Ataxia, Tremor, Ky... OMIM:212065
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, A... OMIM:253310
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Srd5A3-Cdg
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Microcytic anemia, Kyphosis, Abnormal ... ORPHA:324737
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Elevated circulating alkaline phosphatase con... ORPHA:529665
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... OMIM:618278
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inabi... OMIM:618443
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Tremor, Oromotor apraxia, Failure to thrive, Hepati... ORPHA:300536
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholo... ORPHA:167
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Facial ... OMIM:615084
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Hepatitis, Weight loss, Fa... ORPHA:199299
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... OMIM:618549
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... ORPHA:79085
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Flexion contracture, Recurrent pneumonia, Cerebral ... OMIM:616271
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctivitis, Recurre... OMIM:612692
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Leopard Syndrome 1
Epicanthus, Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Delayed puberty, Ap... OMIM:151100
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... OMIM:619040
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... OMIM:243150
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt... OMIM:308240
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... OMIM:261680
Fucosidosis
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Kyphosis, Abnormality of the gallbladder, Abnor... ORPHA:349
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Anemia ORPHA:2598
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, B-cell lymphoma, Monoclo... ORPHA:91139
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Allergic rhinitis, Eczema, Atopic dermatitis, C... OMIM:603165
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration OMIM:602541
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Ophthalm... OMIM:617143
Alexander Disease
Ataxia, Facial palsy, Clonus, Hyperlordosis, Short neck, Kyphosis, Chorea, Tremor, Abnormal pyram... ORPHA:58
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointestinal inflammation, Abnor... ORPHA:186
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Tremor, Hyperkinetic movements, Upper limb spasticity, Gliosis, Gait disturbance ORPHA:457240
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Hepatic steatosis, Thrombocytopenia, Elevated hepatic transaminase ORPHA:99901
Hyperostosis Cranialis Interna
Epiphora OMIM:144755
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Arthritis, Inflammation of the ... OMIM:181000
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Alpha-Mannosidosis
Hepatomegaly, Inguinal hernia, Short neck, Splenomegaly, Kyphosis, Arthritis, Macroglossia, Scoli... ORPHA:61
Barth Syndrome
Fair hair, Abnormal mitochondrial morphology OMIM:302060
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media,... OMIM:240500
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis... ORPHA:816
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona... OMIM:619377
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased intervertebral space, Opisthotonus, T lymphocytopenia, Hypertonia, Capillary hemangioma... ORPHA:508533
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hyperte... OMIM:619487
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Failure to thrive, Gl... OMIM:608776
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Inguinal hernia, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hyp... OMIM:253010
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Polymicrogyria, Akinesia OMIM:225790
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Ataxia ORPHA:31
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia OMIM:601457
Ataxia-Telangiectasia
Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Intention tremor... OMIM:208900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Lipody... OMIM:615381
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait ORPHA:247234
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Decreased liver function ORPHA:42
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis ORPHA:79322
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Autoimmune hemolytic anemia, Ataxia, Sinusitis, Pure red cell aplasia, Autoimm... OMIM:613179
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Nail dystrophy, Epiphora OMIM:616353
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Sym... ORPHA:95455
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Ataxia, Tremor, Splenomegaly, Hemiplegia/hemiparesis, ... ORPHA:355
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... ORPHA:227990
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Lichen Planopilaris
Neoplasm of the oral cavity, Hepatitis ORPHA:525
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Rhabdomyol... ORPHA:713
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, EEG abnormality, Optic atrophy, Abnormal pinna morphology ORPHA:480898
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... OMIM:619418
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Ataxia, Portal hypertension, Tremor... ORPHA:1454
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... OMIM:307200
Mccune-Albright Syndrome
Pancytopenia, Cutaneous myxoma, Hepatitis, Cholestasis, Hepatocellular adenoma, Breast carcinoma,... ORPHA:562
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Bila... ORPHA:309256
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... ORPHA:83471
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iron deficien... OMIM:269200
Winchester Syndrome
Kyphosis OMIM:277950
Typhoid
Hepatomegaly, Ataxia, Skin rash, Tremor, Splenomegaly, Hypertonia, Infectious encephalitis ORPHA:99745
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Acne, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Scoliosis ORPHA:3191
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis ORPHA:210548
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis OMIM:231530
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Pancreatitis ORPHA:79083
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... ORPHA:227982
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Oculomotor apraxia ORPHA:3454
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Inflammatory abnormality of t... ORPHA:391487
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Myoclonus, Gait disturbance, Dysto... OMIM:168601
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni... ORPHA:183675
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly OMIM:313420
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Stüve-Wiedemann Syndrome
Lacrimation abnormality, Hypohidrosis, Hyperhidrosis, Ectopic thyroid, Hypothyroidism ORPHA:3206
Becker Nevus Syndrome
Lipoatrophy, Kyphosis, Spina bifida occulta, Scoliosis, Hamartoma, Shoulder girdle muscle atrophy ORPHA:64755
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:2348
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Gait disturbance, Scoliosis, Hemiplegia, Umbilical hernia ORPHA:2181
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis OMIM:615980
Micro Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Optic atrophy, Retinal co... ORPHA:2510
Niemann-Pick Disease Type C
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abnorma... ORPHA:646
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Decreased circulating total IgM, Conjunctivitis, ... OMIM:607594
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Bila... ORPHA:309263
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated hemog... OMIM:617253
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... ORPHA:541423
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Enamel hypoplasia, Failure to ... OMIM:234250
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture OMIM:618658
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Increased in... ORPHA:93314
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... OMIM:602562
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis, Shagreen patch ORPHA:2617
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Distal muscle weakness, Facial hypotonia, Kyphosis, Babinski sign, Myoclonus,... ORPHA:364028
Bardet-Biedl Syndrome 1
Diabetes mellitus, Cataract, Nephrogenic diabetes insipidus, Abnormality of the ovary, Astigmatis... OMIM:209900
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypopl... OMIM:230500
Schaaf-Yang Syndrome
Failure to thrive in infancy, Kyphosis, Inability to walk, Flexion contracture, Obesity, Scoliosi... OMIM:615547
Cowden Syndrome 1
Hyperthyroidism, Cataract, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, O... OMIM:158350
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... OMIM:614381
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function, Anemia ORPHA:436271
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Spasticity, Spastic paraplegia, Agenesis of corpus callosum OMIM:307000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Respiratory insufficiency du... OMIM:618291
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Kyphosis, Ophthalmoplegia, Hypertonia, Distal arthrogryposis, Firm muscles... OMIM:108145
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia,... OMIM:168600
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... OMIM:614946
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Poor head control, Ata... ORPHA:572798
Mcdonough Syndrome
Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Cachexia ORPHA:2471
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Infection associated neutropenia, Neutropenia ORPHA:445038
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis OMIM:201475
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Infectious encephalitis, ... ORPHA:73263
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Hypoplasia of eyelid, Hypoplasia of the ovary, Azotemia, Micropenis, Decreased testicul... OMIM:619321
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, EEG with burst suppression OMIM:609304
Alg1-Cdg
Cerebellar atrophy, Kyphosis, Cerebral atrophy, Decreased liver function, Scoliosis ORPHA:79327
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Cholestasis, Port... OMIM:614300
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility, Bronchiectasis, Recurrent otitis m... ORPHA:244
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Decreased iduronate sulfatase level, Short neck, Kyphosis, Splenom... OMIM:309900
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Choreoacanthocytosis
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, ... ORPHA:2388
Insulinoma
Tremor, Abnormality of the pancreatic islet cells, Generalized muscle weakness, Increased body we... ORPHA:97279
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Microcytic anemia, T lymphocytopenia, He... ORPHA:2959
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy, Absence of acoustic reflex, Hypsarrhythmia ORPHA:79323
Hypoplasminogenemia
Cervicitis, Decreased level of plasminogen, Periodontitis, Abnormal fallopian tube morphology, Ab... ORPHA:722
Listeriosis
Back pain, Liver abscess, Tremor, Abnormal cellular immune system morphology, Granulomatosis, Con... ORPHA:533
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Macrovesicular hepatic steatosis, Neutropenia, Th... OMIM:617303
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Dilated Cardiomyopathy With Ataxia
Normochromic microcytic anemia, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, ... ORPHA:66634
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Astrocytoma, Ataxia, Glioma, Brain neoplasm, Soft tissue neoplasm, Spina... ORPHA:99818
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Premature osteoart... OMIM:130060
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Bulbar palsy, Tremor, Calf muscle hypertrophy, Fasciculations, Limb muscle weakness OMIM:313200
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Hyperalaninemia, Mitochondrial swelling OMIM:618250
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Hyperlordos... ORPHA:1328
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Dystonia, Ataxia, Incoordination, Tremor, ... ORPHA:512
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae, Abnormal ... ORPHA:2522
Sézary Syndrome
Hepatomegaly, Skeletal muscle atrophy, Cutaneous T-cell lymphoma, Tremor, Splenomegaly, Lymphoma,... ORPHA:3162
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Mogs-Cdg
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Sensorineural heari... ORPHA:79330
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... OMIM:156530
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Congenital Myopathy 12
Akinesia OMIM:612540
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Umbilical hernia, Nephroblas... OMIM:618272
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Autoimmune Hypoparathyroidism
Cataract, Autoimmune hypoparathyroidism, Chronic mucocutaneous candidiasis, Hyperphosphatemia, Co... ORPHA:36913
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Hyperlordosis, Kyphosis, Obesity, Keloids ORPHA:3085
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Cirrhosis OMIM:604367
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Tremor, Abnormal pyramidal sign, Hypertonia, Extrapyramida... ORPHA:51
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis ORPHA:228305
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol... ORPHA:35069
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Ataxia, ... OMIM:234200
4Q21 Microdeletion Syndrome
Short neck, Tremor, Kyphosis, Scoliosis, Agenesis of corpus callosum ORPHA:238750
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Leg muscle stiffness, Brad... OMIM:615530
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:617093
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, B-cell lymphoma... OMIM:619381
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Spastic tetraplegia, Platyspondyly, Neurode... OMIM:618476
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Tetraparesis, Brain atrop... OMIM:617186
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac... ORPHA:20
Cone-Rod Dystrophy 10
Epiphora OMIM:610283
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Kyphosis, Jaundice, Hepatitis, Cholesta... ORPHA:198
Fumarase Deficiency
Conjunctival icterus, Necrotizing enterocolitis, Mitochondrial swelling, Hyperbilirubinemia OMIM:606812
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Bronchiectasis, Dysmetria, Knee flexion co... OMIM:619708
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... OMIM:240300
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal inflammation, Inflammation of the large intestine, Hashimoto thyroiditis, Alopec... ORPHA:99413
Mosaic Monosomy X
Gastrointestinal inflammation, Inflammation of the large intestine, Hashimoto thyroiditis, Alopec... ORPHA:99228
Monosomy X
Gastrointestinal inflammation, Inflammation of the large intestine, Hashimoto thyroiditis, Alopec... ORPHA:99226
Turner Syndrome
Gastrointestinal inflammation, Inflammation of the large intestine, Hashimoto thyroiditis, Alopec... ORPHA:881
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s... OMIM:105210
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... OMIM:618056
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Tremor, Abnormality of the spleen, Syringomyelia, Scoliosis, Failure to ... ORPHA:94063
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplas... OMIM:253220
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa... OMIM:220110
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Osteoarthritis... OMIM:177170
Cone-Rod Dystrophy 8
Epiphora OMIM:605549
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ... OMIM:300755
Chronic Mucocutaneous Candidiasis
Cheilitis, Abnormal dental enamel morphology, Skin rash, Hepatitis ORPHA:1334
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Bulbar palsy, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal... OMIM:617527
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Spondyloepiphyseal Dysplasia Congenita
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... ORPHA:94068
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Alg9-Cdg
Telecanthus, Low posterior hairline, Hypoplasia of the ovary, Bicornuate uterus, Hypoplastic nipp... ORPHA:79328
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Thyroiditis, Uveitis, Bronc... OMIM:614700
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... ORPHA:2635
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion ORPHA:411777
Emanuel Syndrome
Sacral dimple, Torticollis, Inguinal hernia, Congenital diaphragmatic hernia, Kyphosis, Cerebral ... OMIM:609029
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Broad-based gait, Camptodactyly of finger, Cachexia, Short neck, Tremor, Kyphosi... ORPHA:85293
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Cowden Syndrome 6
Subcutaneous lipoma, Kyphosis, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Hamarto... OMIM:615109
Acute Liver Failure
Elevated hepatic transaminase, Pain insensitivity, Incoordination, Ataxia, Skin rash, Jaundice, S... ORPHA:90062
Transketolase Deficiency
Cataract, Seborrheic dermatitis, Uveitis, Secondary amenorrhea, Conjunctivitis, Type I diabetes m... ORPHA:488618
Tick-Borne Encephalitis
Back pain, Elevated hepatic transaminase, Somatic sensory dysfunction, Incoordination, Speech apr... ORPHA:297
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Epicanthus, Chalazion OMIM:613355
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Shuffling gait, Akinesia ORPHA:411602
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Kyphosis, Scoliosis, Cerebral atrophy OMIM:619797
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Conjunctiva... ORPHA:201
Congenital Generalized Lipodystrophy
Hepatomegaly, Hepatic steatosis, Cirrhosis ORPHA:528
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Frank-Ter Haar Syndrome
Inguinal hernia, Acne, Camptodactyly of finger, Kyphosis, Scoliosis, Umbilical hernia, Beaking of... ORPHA:137834
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Low alkaline phosphatase, Failure to thrive OMIM:201100
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Sacral dimple, Ataxia, Eczema, Short neck, Tremor, Kyphosis, Prominent protru... OMIM:300966
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Glutaryl-Coa Dehydrogenase Deficiency
Abnormal circulating enzyme concentration or activity, Pallidal degeneration, Dystonia, Ataxia, P... ORPHA:25
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... OMIM:183900
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Abetalipoproteinemia
Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Acanthocytosis, Hepatic fibrosis, C... ORPHA:14
Hypomelanosis Of Ito
Kyphosis, Scoliosis, Cerebral atrophy OMIM:300337
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural hearing impairment, A... ORPHA:309271
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Pearson Syndrome
Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, ... ORPHA:699
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Bulbar palsy, Rigidity, Kyphosis, Limb hypertonia, Progressive spas... ORPHA:521426
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:212138
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe... OMIM:617052
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia OMIM:619147
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Tethered cord, Inguinal hernia, Decreased muscle mass, Shor... OMIM:130720
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Scoliosis ORPHA:2114
Brachyolmia Type 3
Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Pseudohypoparathyroidism Type 1C
Calcinosis, Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... ORPHA:79444
Cowden Syndrome 5
Subcutaneous lipoma, Kyphosis, Thyroiditis, Breast carcinoma, Hamartomatous polyposis, Meningioma... OMIM:615108
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic ... ORPHA:247585
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Babinski sign, Hypertonia, Brain atrophy, Cirrhosis, Spasticity,... OMIM:616539
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital dia... ORPHA:2311
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis ORPHA:1545
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice OMIM:231680
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... ORPHA:79431
Trisomy 20P
Inguinal hernia, Incoordination, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Abn... ORPHA:261318
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Hypertonia, Wrist flexion contracture, Abnormally ossified v... ORPHA:800
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Ataxia, Megaloblastic anemia, Tremor, Cerebral atrophy,... OMIM:222300
15Q24 Microdeletion Syndrome
Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Obesity, Scoliosis, Hernia,... ORPHA:94065
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Desbuquois Dysplasia 1
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Obesity, Platyspondyly, Scoli... OMIM:251450
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Rectal abscess, Hyp... ORPHA:436252
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Facial palsy, Clonus, Tremor, Generalized muscle weakness, Type 1 fibers relatively... OMIM:619424
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Hypersplen... ORPHA:275761
Mucopolysaccharidosis Type 6
Sinusitis, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Macroglossia, Hernia, Chro... ORPHA:583
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Thenar muscle atrophy, Splenomegaly, Kyph... OMIM:607015
White-Sutton Syndrome
Posteriorly rotated ears, Optic nerve hypoplasia, Sensorineural hearing impairment, Bilateral sen... OMIM:616364
Wolf-Hirschhorn Syndrome
Sacral dimple, Tethered cord, Ataxia, Congenital diaphragmatic hernia, Kyphosis, Abnormality of t... ORPHA:280
Mucolipidosis Iii Gamma
Increased iduronate sulfatase level, Hyperlordosis, Short neck, Kyphosis, Scoliosis OMIM:252605
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:435660
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Hurler Syndrome
Hepatomegaly, Inguinal hernia, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenome... OMIM:607014
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Visceral angiomatosis, Abnormal form of the vertebral bodies, ... ORPHA:628
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Splenomegaly, Hepatic steatosis, Hepatomegaly OMIM:613327
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Supranuclear Palsy, Progressive, 2
Bradykinesia, Falls, Gait imbalance, Akinesia OMIM:609454
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, Hepatomegaly, Abnormal ... ORPHA:3385
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Small for gestational age, Skin rash, Tremor, Abnormality of the p... ORPHA:69665
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
19P13.12 Microdeletion Syndrome
Hepatic steatosis ORPHA:254346
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Hepatic s... ORPHA:247598
Arthrogryposis, Distal, Type 4
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... OMIM:609128
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Jaundice, Hepatitis, Cheilitis, Arthritis, Co... ORPHA:2331
Bruck Syndrome 1
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... OMIM:259450
Crouzon Syndrome
Keratitis, Conjunctivitis, Dysgerminoma, Shallow orbits OMIM:123500
Distal Triplication 15Q
Large for gestational age, Kyphosis, Flexion contracture, Syringomyelia, Scoliosis, Hernia, Nephr... ORPHA:314588
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Kyphosis, Inability to walk, Recurrent pneumonia, Cerebral atrophy, Scoliosis, D... ORPHA:464738
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Resting tremor, Maculopapular exanthema, Skin rash, Myocarditis, L... ORPHA:319213
Pseudohypoparathyroidism Type 1B
Calcinosis, Cataract, Decreased response to growth hormone stimulation test, Pseudohypoparathyroi... ORPHA:94089
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Lipodystrophy, Akinesia, Tremor, Inability t... ORPHA:86309
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity, ... OMIM:618493
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... ORPHA:728
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Pseudohypoparathyroidism Type 1A
Calcinosis, Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... ORPHA:79443
Lymphedema-Distichiasis Syndrome
Diabetes mellitus, Recurrent skin infections, Ectropion, Cataract, Corneal erosion, Tubulointerst... ORPHA:33001
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Chronic neutropenia, Hepatocellular adenoma, Hepatocellular carcinoma, Abnormal mye... ORPHA:79259
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia OMIM:243910
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Mucopolysaccharidosis Type 4
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Spinal ca... ORPHA:582
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Otitis media, Decrease... OMIM:619475
Zimmermann-Laband Syndrome 2
Macroglossia, Kyphosis, Short neck OMIM:616455
Pyruvate Carboxylase Deficiency
Hepatomegaly, Ataxia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Tip-toe gait, Dystonia... ORPHA:3008
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Acute Intermittent Porphyria
Back pain, Proximal muscle weakness in upper limbs, Somatic sensory dysfunction, Distal muscle we... ORPHA:79276
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Osteoarthrit... ORPHA:77259
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated hepatic transaminase ORPHA:71212
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Lateral Meningocele Syndrome
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Dura... ORPHA:2789
Bloom Syndrome
Leukemia, Hepatic steatosis, Elevated hemoglobin A1c OMIM:210900
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:348
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom... OMIM:269700
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Kyphosis, Abnormal form of the vertebral bodies, Hypertonia, Gait distur... ORPHA:192
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Cholestasis, Bile duct prolifer... OMIM:613658
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Familial Chylomicronemia Syndrome
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepatic steatosis ORPHA:444490
Clark-Baraitser syndrome
Kyphosis, Obesity, Scoliosis OMIM:300602
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Agenesis of corpus callosum OMIM:615433
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Scapular winging, Tremor, Kyphosis, Scoliosis OMIM:617061
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Short neck, Kyphosis, Obesity, Flexion contracture of toe ORPHA:3409
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Gaucher Disease, Perinatal Lethal
Akinesia OMIM:608013
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Kyphosis, Gait ataxia, Scoliosis, Failure to thrive ORPHA:476126
De Sanctis-Cacchione Syndrome
Entropion, Keratitis, Bilateral cryptorchidism, Gonadal hypoplasia, Conjunctivitis, Ectropion OMIM:278800
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis OMIM:259440
Smith-Mccort Dysplasia 1
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... OMIM:607326
Marden-Walker Syndrome
Inguinal hernia, Decreased muscle mass, Short neck, Kyphosis, Congenital contracture, Scoliosis, ... OMIM:248700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Premature osteoarthritis, Elbow flexion cont... ORPHA:93360
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:280365
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Scapular winging, Lipoatrophy, Kyphosis, Absence of subcutan... OMIM:616914
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Inguinal hernia, Multiple joint contractures, Diaphragm... OMIM:265000
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El... ORPHA:542323
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Rhizomelic Syndrome, Urbach Type
Kyphosis, Acne, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Kyphosis, Abnormal mesentery morphology, Abnormality of the gall... ORPHA:2075
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Cirrhosis ORPHA:79086
Rett Syndrome, Congenital Variant
Kyphosis, Chorea, Athetosis, Scoliosis, Dystonia, Spasticity, Apraxia OMIM:613454
Fountain Syndrome
Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta ORPHA:3219
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Inguinal hernia, Facial palsy, Camptodactyly of finger, Kyphosis, Gait dis... ORPHA:261349
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Kyphosis, Generalized dystonia, Scoliosis ORPHA:79107
Neurofibromatosis Type 1
Astrocytoma, Ataxia, Kyphosis, Chronic myelogenous leukemia, Multiple lipomas, Lisch nodules, Neo... ORPHA:636
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Hepatomegaly, Biliary hyperplasia, Thrombocytopenia, Splenomegaly,... OMIM:619991
Fanconi-Bickel Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic failure, Ele... ORPHA:2088
Ruvalcaba Syndrome
Kyphosis, Inguinal hernia, Scoliosis OMIM:180870
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Rhabdomyolysis, Hepatitis, Uveitis, Optic neurit... ORPHA:509
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Inguinal hernia, Congenital muscular torticollis, Camptodactyly of finge... ORPHA:2215
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Kyphosis, Recurrent pneumonia, Cerebral atrophy, Scoliosis, Spasticity, Agenesis... OMIM:616449
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Tremor, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activ... OMIM:251100
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Marshall-Smith Syndrome
Omphalocele, Thoracic scoliosis, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Ce... OMIM:602535
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu... OMIM:146500
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Pycnodysostosis
Hyperlordosis, Overweight, Kyphosis, Hepatosplenomegaly, Spondylolysis, Scoliosis, Enamel hypopla... ORPHA:763
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... OMIM:618329
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Tetraplegia, Weight... ORPHA:79102
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Failure to thrive ORPHA:500055
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Kyphosis, Spastic tetraplegia, Limb hypertonia OMIM:619909
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hepatic steatosis ORPHA:412
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Large for gest... ORPHA:77301
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Progressive proximal muscle weakness, Keratoconjunctivitis sicca ORPHA:43393
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Arthritis, Panniculitis, Conjunctivitis, In... OMIM:617591
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Trisomy 13
Kyphosis, Hernia, Capillary hemangioma, Scoliosis ORPHA:3378
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis... OMIM:617156
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic failure, Hepatic steatosis, Hepatic calcification ORPHA:228308
Osteogenesis Imperfecta
Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebral bodies, Lo... ORPHA:666
Cono-Spondylar Dysplasia
Short neck, Kyphosis, Partial agenesis of the corpus callosum, Poor coordination, Scoliosis, Fail... ORPHA:420794
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Xeroderma Pigmentosum, Complementation Group D
Entropion, Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovasculariz... OMIM:278730
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... ORPHA:15
Stickler Syndrome, Type I
Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of ver... OMIM:108300
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis ORPHA:1883
Harrod Syndrome
Kyphosis, Failure to thrive, Cerebral cortical atrophy, Scoliosis ORPHA:2115
Bruck Syndrome
Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis ORPHA:2771
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... OMIM:616263
Monosomy 13Q34
Hepatic steatosis ORPHA:96168
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis ORPHA:746
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... OMIM:223800
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis OMIM:215600
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic... OMIM:608594
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Abnormal central motor function, Mye... ORPHA:97685
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Weismann-Netter Syndrome
Anemia, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Neoplasm, Kyphosis, Skeletal muscle atrophy OMIM:219080
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Myelodysplasia, Kyphosis, Scoliosis, Leukemia OMIM:619951
Alström Syndrome
Thoracic scoliosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otitis media, Hep... ORPHA:64
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Obesity, Abdominal obesity, Biconcave verte... OMIM:219090
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Diastasis recti, Kyphosis, Splenomegaly, Inability to walk, Hep... ORPHA:576
Poland Syndrome
Congenital diaphragmatic hernia, Short neck, Retinal hamartoma, Kyphosis, Absence of subcutaneous... ORPHA:2911
3C Syndrome
Inguinal hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Facial hemangioma ORPHA:7
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis, ... ORPHA:1798
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Cerebral atrophy, Hy... OMIM:301040
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Hernia of the abdominal wall, Short neck ORPHA:3082
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Lumbar hyperlordosis, Kyphosis, Uterine leiomyoma, Platyspondyly, Recurrent otitis... OMIM:616482
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Dysplastic corpus callosum, Left ventri... OMIM:300967
Hajdu-Cheney Syndrome
Hepatomegaly, Inguinal hernia, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Splenomega... ORPHA:955
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Kyphosis, Agenesis of corpus callosum, Scoliosis ORPHA:261144
3M Syndrome
Scapular winging, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increased vertebr... ORPHA:2616
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Pheochromocytoma, Scoliosis, Med... OMIM:162300
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-toe gait, Scol... OMIM:618050
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Inguinal hernia, Kyphosis, Scoliosis ORPHA:3121
15Q14 Microdeletion Syndrome
Kyphosis, Inguinal hernia, Acne, Scoliosis ORPHA:261190
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Eczema, Kyphosis, Hypotrophy of the s... OMIM:610443
1P36 Deletion Syndrome
Camptodactyly of finger, Kyphosis, Abnormality of the spleen, Hemiplegia/hemiparesis, Annular pan... ORPHA:1606
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Hand muscle atrophy, Sacral dimple, Small for gestational age, Eczema, Spina bifi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Hand muscle atrophy, Sacral dimple, Small for gestational age, Eczema, Spina bifi... ORPHA:363958
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Hyperlordosis, Large for gestational age, Kyphosis, Gait ataxia, Scoliosis, C... OMIM:617011
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Kyphosis, Gait... ORPHA:457359
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Ataxia, Scoliosis ORPHA:2479
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Aspartylglucosaminuria
Hepatomegaly, Acne, Kyphosis, Vacuolated lymphocytes, Cerebral atrophy, Spasticity, Macroglossia,... OMIM:208400
Tumoral Calcinosis, Normophosphatemic, Familial
Calcinosis, Conjunctivitis OMIM:610455
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Kyphosis, Elevated circulating alkaline phosphatase concentration, Failure to thriv... OMIM:239000
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Peripo... OMIM:124000
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Obesity ORPHA:261222
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Dystonia, Small for gestational age, Ataxia, Tremor, Microvesicular hepatic stea... OMIM:220111
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture OMIM:603387
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia OMIM:617190
Weaver Syndrome
Inguinal hernia, Diastasis recti, Kyphosis, Slurred speech, Poor fine motor coordination, Hyperto... OMIM:277590
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Co... OMIM:601495
Prader-Willi Syndrome
Decreased muscle mass, Failure to thrive in infancy, Impaired pain sensation, Kyphosis, Poor gros... OMIM:176270
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, T lymphocytopenia, Contracture of the... OMIM:618223
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Reduced level of N-acetylglucosaminyl... ORPHA:79329
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Jaundice, Neutropenia, Cerebral atrophy, Hypertonia, Dystonia, Failure to thrive OMIM:617248
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Inguinal hernia, Small for gestational age, Ataxia, Failure to thrive in infancy, ... ORPHA:268261
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hepatic steatosis ORPHA:189427
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Small for gestational age, Ankle flexion contracture, Kyphosis, Ga... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Small for gestational age, Eczema, Kyphosis, Gait disturbance, Scoli... ORPHA:464306
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Corpus callosum atrophy, Kyphosis, Agenesis of corpus callosum, Cerebral atrophy OMIM:619244
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity, Kyphosis, Pancreatitis OMIM:610475
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Dentinogenesis imperfecta, Scoliosis OMIM:259420
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Thoracic scoliosis, Sacral dimple, Widened atrophic scar, Inguinal hernia, Kyphos... ORPHA:536532
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, Failure to thrive OMIM:617602
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Loss of eyelashes, Corneal scarring, Conjunctivitis, Elevated circulati... OMIM:263700
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Involuntary movements, Kyphoscoliosis, Kyphosis, Inability to walk, Unstea... ORPHA:3063
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hepatic steatosis OMIM:151660
Ogden Syndrome
Microvesicular hepatic steatosis, Jaundice, Iron deficiency anemia, Macrovesicular hepatic steato... OMIM:300855
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression, Otitis media, Hearing impairment ORPHA:667
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Elevated hemoglobin A1c, Macrovesicular hepatic stea... OMIM:619127
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Kyphosis, Flexion contracture, Increased body weight, Abdominal o... ORPHA:398069
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Tethered cord, Small for gestational age, Decr... OMIM:194190
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Hepatic steatosis OMIM:229600
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Leukocyte Adhesion Deficiency
Chronic oral candidiasis, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent sk... ORPHA:2968
Cohen Syndrome
Failure to thrive in infancy, Kyphosis, Obesity, Scoliosis, Neutropenia ORPHA:193
Spondyloarthropathy, Susceptibility To, 1
Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacro... OMIM:106300
Koolen-De Vries Syndrome
Vertebral fusion, Abnormal dental enamel morphology, Kyphosis, Vertebral segmentation defect, Sco... ORPHA:96169
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Kyphosis, Hemiplegia/hemiparesis, Scoliosis, Hernia ORPHA:394
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ... ORPHA:3042
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Abnormal dental enamel morphology, Scoliosis ORPHA:1005
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies... ORPHA:2461
Legius Syndrome
Vestibular schwannoma, Neurofibroma, Hearing impairment ORPHA:137605
16Q24.3 Microdeletion Syndrome
Kyphosis, Increased mean corpuscular volume, Scoliosis, Chronic otitis media, Thrombocytopenia ORPHA:261250
Atelis Syndrome 2
Sacral dimple, Kyphosis, Thrombocytopenia, Dysmetria, Anemia OMIM:620185
Noonan Syndrome 14
Kyphosis, Scapular winging, Lymphopenia, Short neck OMIM:619745
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Splenomegaly, Cholestatic liver disease, Cirrhosis, Hepatic steatosis OMIM:270400
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Macro... OMIM:619194
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly, Dentinogenesis imperfecta OMIM:616294
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica... ORPHA:1724
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron concentration OMIM:300868
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Sc... ORPHA:251014
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis OMIM:619934
Digeorge Syndrome
Splenomegaly, Anemia, Hypoplasia of the thymus, Cholelithiasis, Hepatic steatosis, Thrombocytopenia OMIM:188400
Proteus Syndrome
Decreased muscle mass, Neoplasm of the thymus, Abnormal form of the vertebral bodies, Neoplasm of... ORPHA:744
Zttk Syndrome
Absent gallbladder, Kyphosis, Dysplastic corpus callosum, Flexion contracture, Hemivertebrae, Sco... OMIM:617140
Marfan Syndrome
Skeletal muscle atrophy, Inguinal hernia, Arthralgia/arthritis, Cachexia, Kyphosis, Dural ectasia... ORPHA:558
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism ORPHA:79430
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal dental enamel morphology, Abnormal form of the vertebral bodies ORPHA:2050
Cardiofacioneurodevelopmental Syndrome
Asplenia, Kyphosis, Abdominal situs inversus, Camptodactyly OMIM:619123
Sotos Syndrome
Astrocytoma, Tremor, Flexion contracture, Neoplasm, Chronic otitis media, Abnormal vertebral morp... ORPHA:821
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis OMIM:617821
Microphthalmia, Lenz Type
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:568
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, EEG... ORPHA:649
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Waddling gait, Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosi... OMIM:143095
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Stickler Syndrome
Skeletal muscle atrophy, Abnormal dental enamel morphology, Cachexia, Kyphosis, Hemiplegia/hemipa... ORPHA:828
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Portal hypertension, Cholestasis, Hepatosplenomegaly, Hepatic steatosis OMIM:619503
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Arthritis, Thickened Achilles tendon, Intervertebral d... OMIM:203500
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis, Cachexia, Skeletal muscle atrophy ORPHA:1969
Smith-Lemli-Opitz Syndrome
Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Short neck, Facial capillary ... ORPHA:818
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Pituitary adenoma OMIM:300942
Ramon Syndrome
Kyphosis, Gingival fibromatosis, Scoliosis, Decreased body weight, Juvenile rheumatoid arthritis OMIM:266270
Autosomal Recessive Robinow Syndrome
Sacral dimple, Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmenta... ORPHA:1507
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly OMIM:616894
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity, Kyphosis OMIM:610489
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Osteogenesis Imperfecta, Type Viii
Inguinal hernia, Kyphosis, Platyspondyly, Scoliosis, Vertebral compression fracture, Dentinogenes... OMIM:610915
Cleidocranial Dysplasia 1
Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Enamel hypoplasia, Spondylolisthesis OMIM:119600
Coffin-Siris Syndrome 1
Sacral dimple, Inguinal hernia, Congenital diaphragmatic hernia, Kyphosis, Partial agenesis of th... OMIM:135900
Frank-Ter Haar Syndrome
Acne, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Campt... OMIM:249420
Osteogenesis Imperfecta, Type Iv
Kyphosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, Facial palsy, Kyphosis, Scoli... ORPHA:2658
Atypical Werner Syndrome
Hepatic steatosis ORPHA:79474
Acromegaly
Cerebral palsy, Acne, Kyphosis, Osteoarthritis, Spinal canal stenosis, Macroglossia, Paresthesia,... ORPHA:963
Somatomammotropinoma
Cerebral palsy, Kyphosis, Pituitary adenoma, Osteoarthritis, Spinal canal stenosis, Macroglossia,... ORPHA:314769
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Scoliosis OMIM:619557
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Mend Syndrome
Hypertonia, Kyphosis, Sacral dimple, Failure to thrive OMIM:300960
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Difficulty walking, Scoliosis, Aspiration pneumonia OMIM:619482
Lowe Oculocerebrorenal Syndrome
Increased circulating lactate dehydrogenase concentration, Camptodactyly of finger, Kyphosis, Cor... OMIM:309000
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Inguinal hernia OMIM:609944
Occipital Horn Syndrome
Pelvic bone exostoses, Hiatus hernia, Kyphosis, Bladder carcinoma, Platyspondyly, Exostoses OMIM:304150
Lymphedema-Distichiasis Syndrome
Kyphosis, Conjunctivitis, Cellulitis OMIM:153400
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Wiedemann-Rautenstrauch Syndrome
Hepatic steatosis ORPHA:3455
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Ataxia, Kyphosis, Flexion contracture, Knee flexion con... OMIM:259050
Cerebrocostomandibular Syndrome
Kyphosis, Spina bifida ORPHA:1393
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Eczema, Abnormal dental enamel morphology ORPHA:85199
Cdags Syndrome
Kyphosis OMIM:603116
Wrinkly Skin Syndrome
Inguinal hernia, Scapular winging, Hypoplasia of the musculature, Kyphosis, Scoliosis, Umbilical ... OMIM:278250
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Abnormality of alkaline phosphatase level, Hypoplasia of the... OMIM:300106
Coffin-Lowry Syndrome
Inguinal hernia, Kyphosis, Lumbar kyphosis, Scoliosis, Decreased body weight, Uterine prolapse OMIM:303600
Viss Syndrome
Exostosis of the external auditory canal, Chronic gastritis, Inguinal hernia, Eczema, Kyphosis, H... OMIM:619472
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Branchiooculofacial Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Atypical scarring o... OMIM:113620
Homozygous Familial Hypercholesterolemia
Hepatic steatosis ORPHA:391665
Yunis-Varon Syndrome
Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy... OMIM:216340

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 Sod1

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 Sod1.

No publications found that use IMPC mice or data for Sod1.

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
Sod1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sod1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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