Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic paraplegia, Babi... |
OMIM:607565 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Spasticity, Gait at... |
ORPHA:225154 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Urinary incontinence, Cachexia, Parkinsonism, Tremor, Chorea, Babinsk... |
OMIM:618093 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Urinary incontinence, Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, R... |
OMIM:213600 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Urinary incontinence, Parkinsonism, Rigid... |
OMIM:607136 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Urinary incontinence, Hypergonadotropic hypogonadism, Tremor, Abnorma... |
OMIM:617145 |
Spastic Paraplegia 12, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Babinski sign, Urinary urgency, ... |
OMIM:604805 |
Spastic Paraplegia 19, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Babinski sign, Urinary urgency, ... |
OMIM:607152 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, U... |
OMIM:600363 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegi... |
OMIM:614409 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Urinary incontinence, Babins... |
ORPHA:320391 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Urinary incontinence, Elevated circulating creat... |
ORPHA:306511 |
Spastic Paraplegia 37, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Urinary urgency, ... |
OMIM:611945 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Urinary incontinence, Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Dystonia |
OMIM:600795 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Lower limb spasticity, Cerebellar ve... |
ORPHA:98 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Loss of Purkinje cells ... |
OMIM:616795 |
Spastic Paraplegia 10, Autosomal Dominant |
|
Lower limb spasticity, Ataxia, Parkinsonism, Urinary incontinence, Babinski sign, Spastic paraple... |
OMIM:604187 |
Spastic Paraplegia 13, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Babinski sign, Urinary urgency, ... |
OMIM:605280 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Hand tremor, Tetraplegia, Degeneration of anterior horn cells, Gliosis, Fascicula... |
OMIM:604484 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Lower limb spasticity, Postural tremor, Urinary incontinence, Babinski sign, Spastic paraplegia, ... |
ORPHA:100988 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, L-2-hydroxyglutaric acidemia, Ataxia, Spastic tetraparesis, Abnormal pyramida... |
OMIM:236792 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic tetraparesis, Ba... |
OMIM:612319 |
Autosomal Dominant Spastic Paraplegia Type 13 |
|
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Babinski sign, Abnormal pyramida... |
ORPHA:100994 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Low back pain, Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Ur... |
OMIM:603563 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Premature ovarian insufficiency, Postural tremor, Urinary inc... |
OMIM:300623 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Urinary incontinence, Spastic para... |
OMIM:613647 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Lower limb pain, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy |
OMIM:617018 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Lower limb spasticity, Postural tremor, Urinary incontinence, Abnormal cerebellum morphology, Bab... |
OMIM:270800 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Gai... |
OMIM:618369 |
Spastic Paraplegia 36, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Urinary urgency, ... |
OMIM:613096 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis |
OMIM:143100 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Clonus, Urinary incontinence, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb ... |
ORPHA:300605 |
Spastic Paraplegia 76, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign, Spastic paraplegia, Dysmetria... |
OMIM:616907 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Spastic ataxia, Waddling gait, Urinary incontinence, B... |
OMIM:607259 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Paraplegia, Urina... |
OMIM:182600 |
Spinocerebellar Ataxia 2 |
|
Urinary incontinence, Dysmetria, Urinary bladder sphincter dysfunction, Ataxia, Parkinsonism, Myo... |
OMIM:183090 |
Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Incoordination, Ataxia, Urinary incontinence, Abnormal pyramidal sign, Abnorm... |
ORPHA:309162 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Urinary incontinence, Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial ... |
OMIM:205100 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Lower limb spasticity, Urinary incontinence, Clonus, Babinski sign, Limb ataxia, Urinary urgency,... |
ORPHA:100989 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... |
OMIM:300957 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Lower limb spasticity, Urinary incontinence, Progressive spastic paraparesis, Babinski sign, Urin... |
ORPHA:444099 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign, Spastic paraplegia, Obesity, ... |
OMIM:604360 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia |
OMIM:300857 |
Perineural Cyst |
|
Urinary incontinence, Neurogenic claudication, Retrograde ejaculation, Urinary bladder sphincter ... |
ORPHA:65250 |
Primary Orthostatic Tremor |
|
Tremor, Myalgia, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Astrocytosis, Abnormality of extrapyramidal motor... |
ORPHA:204 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence, Babinski sign, Gliosis, Myoclonus, Gait disturbance, Apraxia, Abnormal uppe... |
OMIM:221770 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Urinary incontinence, Babinski sign, Spastic paraplegia, ... |
OMIM:607225 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Spastic Paraplegia 4, Autosomal Dominant |
|
Low back pain, Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Pa... |
OMIM:182601 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Urinary incontinence, Upper limb postural tremor, Abnormal ce... |
ORPHA:458803 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Clonus, Urinary incontinence, Bowel incontinence, Babinski sign, Limb atax... |
ORPHA:100993 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism... |
OMIM:615768 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Huntington Disease-Like 3 |
|
Ataxia, Urinary incontinence, Bowel incontinence, Chorea, Unsteady gait, Abnormal pyramidal sign,... |
OMIM:604802 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Urinary incontinence, Babi... |
OMIM:602099 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Gliosis, Cer... |
OMIM:225753 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Trigeminal neuralgia, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign... |
ORPHA:282166 |
Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Ataxia, Urinary incontinence, Hypoplasia of the pons, Rigidity, Unsteady gait... |
ORPHA:98760 |
Spastic Paraplegia 16, X-Linked |
|
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Tetraplegia, Urin... |
OMIM:300266 |
3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Urinary incontinence, Spastic tetraplegia, Athetosis, 3-Methylglutaconic aciduria, Dyston... |
OMIM:250950 |
Huntington Disease-Like 3 |
|
Broad-based gait, Extrapyramidal muscular rigidity, Urinary incontinence, Bowel incontinence, Cho... |
ORPHA:157946 |
Huntington Disease-Like 2 |
|
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia |
ORPHA:98934 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Urinary incontinence, Bowel incontinence, Rigidity, Babinski sign, Hand t... |
ORPHA:289560 |
Glutathionuria |
|
Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor |
OMIM:231950 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Torticollis, Urinary incontinence, Babinski sign, Spas... |
OMIM:619686 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign,... |
OMIM:603516 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Urinary incontinence, Bowel incontinence, Parkinsonism, Tremor, Rigidity, Head titubati... |
OMIM:618877 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... |
ORPHA:309169 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Urinary incontinence, Tremor, Rigidity, Gait disturbance |
OMIM:603472 |
3-Methylglutaconic Aciduria, Type Ix |
|
Urinary incontinence, Clonus, Choreoathetosis, 3-Methylglutaric aciduria, 3-Methylglutaconic acid... |
OMIM:617698 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Ataxia, Urinary incontinence, Unsteady gait, Obesity, Fasci... |
ORPHA:464282 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Urinary incontinence, Poor coordination, Slurred sp... |
ORPHA:98772 |
Spastic Paraplegia 44, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign, Spastic paraplegia, Dysmetria... |
OMIM:613206 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Bowel incontinence, Clonus, Abnormal cerebel... |
OMIM:270700 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Incoordination, Ataxia, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Gait ataxia... |
OMIM:616688 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Unsteady gait, Primary amenorrhea, Secondary amenorrhea, Gliosis... |
OMIM:603896 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Parkinsonism, Rigidity, Bradykinesia, Gliosis, Gait disturbance, Shuffling gait, Apraxia, Spasticity |
OMIM:221820 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Tremor, Hyperkinetic movements, Upper limb spasticity, Gliosis, Gait disturbance, Mic... |
ORPHA:457240 |
Baralle-Macken Syndrome |
|
Urinary incontinence, Inability to walk, Obesity, Dystonia, Spasticity |
OMIM:619255 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasc... |
OMIM:109150 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations |
OMIM:615048 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Intellectual Developmental Disorder, X-Linked 29 |
|
Babinski sign, Testicular dysgenesis, Urinary incontinence |
OMIM:300419 |
3-Methylglutaconic Aciduria Type 9 |
|
Urinary incontinence, Clonus, 3-Methylglutaconic aciduria, Spasticity, Failure to thrive, Slender... |
ORPHA:505216 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Ataxia, Urinary incontinence, Myoclonus, Dystonia, Spasticity |
OMIM:620094 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Lower limb spasticity, Urinary incontinence, Babinski sign, Urinary urgency, Spastic gait, Progre... |
ORPHA:320365 |
Syringomyelia, Noncommunicating Isolated |
|
Lower limb spasticity, Urinary incontinence, Babinski sign, Unsteady gait, Gait ataxia, Chiari ty... |
OMIM:186700 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Lower limb spasticity, Resting tremor, Urinary incontinence, Hoffmann sign, Babinski sign, Spasti... |
OMIM:601162 |
Adult Polyglucosan Body Disease |
|
Neurogenic bladder, Ataxia, Urinary incontinence, Abnormal pyramidal sign, Hemiparesis, Abnormali... |
ORPHA:206583 |
Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Astrocytosis |
OMIM:607341 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradyki... |
ORPHA:248111 |
Polyglucosan Body Neuropathy, Adult Form |
|
Neurogenic bladder, Urinary incontinence, Spastic paraplegia, Gait disturbance, Tetraparesis, Abn... |
OMIM:263570 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Neurogenic bladder, Lower limb spasticity, Detrusor sphincter dyssynergia, U... |
ORPHA:466722 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Urinary incontinence, Parkinsonism, Akinesia, Rigidity, Babinski sign, Sp... |
ORPHA:247234 |
Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis, Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Upp... |
ORPHA:275864 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Gliosis, Myoclonus, Gait d... |
OMIM:168601 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Hyperphe... |
OMIM:264070 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Torticollis, Urinary incontinence, Limb ataxia, Titubation, Urinary urgency, ... |
ORPHA:98768 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paraly... |
OMIM:616586 |
Siddiqi Syndrome |
|
Urinary incontinence, Limb dystonia |
OMIM:618635 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Astrocytosis, Nephrocalcinosis, Difficulty walking, Slender build |
OMIM:611087 |
Developmental And Epileptic Encephalopathy 14 |
|
Spasticity, Gliosis, Clonus, Tetraplegia |
OMIM:614959 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Bowel incontinence, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar paralysis... |
OMIM:169500 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Urinary incontinence, Bowel incontinence, Parkinsonism, Tremor, Myalgia, Fasciculation... |
ORPHA:329478 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle c... |
ORPHA:521406 |
Adult Krabbe Disease |
|
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Urinary incontinence, Progressiv... |
ORPHA:206448 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Cerebellar ... |
ORPHA:280210 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Urinary incontinence, Spastic tetraparesis, Babinski sign, Gait ataxia, Loss of ambulation |
OMIM:249900 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Cerebellar atrophy, Clonus, Urinary incontinence, Bowel incontinence, Babinski sign, Progressive ... |
OMIM:618868 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Clonus, Urinary hesitancy, Spastic paraplegia, Babin... |
OMIM:609727 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Gastrocnemius myalgia, Tremor, Inability to w... |
ORPHA:276435 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign, Dysmetria... |
ORPHA:88644 |
Primary Progressive Freezing Gait |
|
Postural tremor, Urinary incontinence, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbala... |
ORPHA:75567 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy |
OMIM:615957 |
Adrenoleukodystrophy |
|
Incoordination, Urinary incontinence, Bowel incontinence, Paraparesis, Spastic paraplegia, Slurre... |
OMIM:300100 |
Foix-Alajouanine Syndrome |
|
Back pain, Low back pain, Neurogenic bladder, Urinary incontinence, Bowel incontinence, Progressi... |
ORPHA:79093 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Small for gestational age, Hypertonia, Cerebellar hemisphere hypoplasia, Glio... |
OMIM:615095 |
Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Spastic paraparesis |
OMIM:312910 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Low back pain, Ataxia, Urinary incontinence, Bowel incontinence, Rigidity, Babinski sign, Abnorma... |
OMIM:600142 |
Hemimegalencephaly |
|
Hemiparesis, Gliosis, Myoclonus, Abnormal neuron morphology |
ORPHA:99802 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Low back pain, Urinary incontinence, Tremor, Abnormal cerebellum morphology, Babinski sign, Abnor... |
ORPHA:447753 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Inability to walk, Urinary incontinence |
OMIM:620368 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxi... |
ORPHA:225147 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Small for gestational age, Clonus, Cryptorchidism, Babinski sign, Spastic tetrapl... |
OMIM:619847 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Ataxia, Inability to walk, Cerebellar gliosi... |
ORPHA:79243 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Rigidity, Astrocytosis, B... |
ORPHA:309854 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Elevated circulating creatine kinase concentra... |
ORPHA:168486 |
Huntington Disease |
|
Clonus, Involuntary movements, Abnormal libido, Rigidity, Inability to walk, Chorea, Babinski sig... |
ORPHA:399 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria... |
OMIM:618387 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Lower limb spasticity, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Gait ataxia,... |
ORPHA:352641 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Elevated circulating cre... |
OMIM:617193 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Multiple Sclerosis, Susceptibility To |
|
Urinary hesitancy, Incoordination, Urinary incontinence, Spasticity |
OMIM:126200 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Hippocampal sclerosis, Myoclonus |
OMIM:615400 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Spastic/hyperactive bladder, Weight loss, Brady... |
ORPHA:411602 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Urinary incontinence, Bowel inco... |
ORPHA:171629 |
Amyotrophic Dystonic Paraplegia |
|
Spastic paraplegia, Urinary incontinence, Bowel incontinence, Dystonia |
OMIM:105300 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Loss of ambulation, Gait disturbance, Urinary incontinence |
OMIM:615284 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Limb hyp... |
OMIM:612936 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia |
OMIM:620270 |
Chiari Malformation Type I |
|
Lower limb spasticity, Urinary incontinence, Babinski sign, Unsteady gait, Gait ataxia, Chiari ty... |
OMIM:118420 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Fatigue, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnorma... |
OMIM:614831 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ... |
OMIM:300423 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... |
OMIM:618090 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra... |
OMIM:146500 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Fatigue, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclo... |
ORPHA:314632 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Gliosis |
OMIM:613002 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Pulmonary Blastoma |
|
Chest pain, Weight loss |
ORPHA:64741 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... |
ORPHA:216873 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic gait, Progressive spastic par... |
ORPHA:171617 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Marchiafava-Bignami Disease |
|
Ataxia, Urinary incontinence, Rigidity, Abnormal pyramidal sign, Gait ataxia, Hemiparesis, Gait d... |
ORPHA:221074 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemipares... |
OMIM:105210 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Idiopathic Achalasia |
|
Chest pain, Decreased prealbumin level, Weight loss |
ORPHA:930 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Astrocytosis, Bradykine... |
OMIM:601104 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia, D... |
ORPHA:330050 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very ... |
OMIM:617916 |
Unilateral Focal Polymicrogyria |
|
Hemiparesis, Poor fine motor coordination, Urinary incontinence, Spastic hemiparesis |
ORPHA:268947 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Gliosis, Falls, Dystonia |
ORPHA:683 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Adrenomyeloneuropathy |
|
Back pain, Fatigue, Female sexual dysfunction, Urinary incontinence, Bowel incontinence, Abnormal... |
ORPHA:139399 |
Hydrocephalus, Normal-Pressure, 1 |
|
Gait disturbance, Urinary incontinence, Bowel incontinence |
OMIM:236690 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Menorrhagia, Urinary retention, Oligom... |
ORPHA:2795 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Saccharopinuria |
|
Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Spastic diplegia, Gait ataxia... |
ORPHA:3124 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Increased serum beta-... |
ORPHA:845 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... |
ORPHA:98763 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... |
OMIM:615362 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Gliosis, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:604218 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,... |
OMIM:615924 |
Leigh Syndrome |
|
Ataxia, Gliosis, Dystonia, Spasticity, Failure to thrive |
OMIM:256000 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Gliosis |
OMIM:256600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Ataxia, Urinary incontinence, Bowel incontinence, Loss of ability to walk in ... |
OMIM:300243 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... |
ORPHA:2704 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Spastic tetr... |
ORPHA:3240 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Pontocerebellar Hypoplasia, Type 2A |
|
Hypoplasia of the pons, Chorea, Opisthotonus, Gliosis, Cerebellar hypoplasia, Extrapyramidal dysk... |
OMIM:277470 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Degeneration of anterior horn cells, ... |
OMIM:159950 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Reduction of oligodendroglia, Tre... |
OMIM:312080 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Gliosis |
OMIM:615119 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Autosomal Dominant Centronuclear Myopathy |
|
Urinary incontinence, Large for gestational age, Cryptorchidism, Exercise-induced myalgia, Diffic... |
ORPHA:169189 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia |
OMIM:610245 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase... |
OMIM:617013 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... |
ORPHA:397946 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Urocanic aciduria, Abnormal circulating histidine concentration, Gait a... |
ORPHA:210128 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concen... |
OMIM:619405 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Failure to thrive, Myoclonus, Dystonia |
OMIM:619651 |
Metachromatic Leukodystrophy |
|
Ataxia, Urinary incontinence, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Gait distu... |
OMIM:250100 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Tuberculosis |
|
Fatigue, Weight loss |
ORPHA:3389 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Eyelid myoclonu... |
ORPHA:2590 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Urinary incontinence, Diaphragmatic paralysis, Degeneration of anterio... |
OMIM:604320 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Babinski sign, Clumsiness, Gait ataxia, Progressive gait ataxia, Tip-toe ga... |
ORPHA:309256 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Atypical Juvenile Parkinsonism |
|
Fatigue, Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal p... |
ORPHA:391411 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Urinary incontinence |
ORPHA:329329 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Charcot-Marie-Tooth Disease Type 1F |
|
Urinary incontinence, Inability to walk, Unsteady gait, Hand tremor, Gait ataxia, Limb ataxia, St... |
ORPHA:101085 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Urinary incontinence, Episodic abdominal pain, Impotence, F... |
OMIM:268800 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Neurogenic bladder, Ataxia, Urinary incontinence, Elevated circulating creati... |
ORPHA:496641 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Exercise intolerance, Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar... |
ORPHA:139485 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Fatigue, Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Ele... |
OMIM:618049 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Hypergonadotropic hypogonadism, Tremor, Elevated circulating phytanic acid concentration,... |
OMIM:614307 |
Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Bowel incontinence, Chorea, Babinski sign, Clumsiness, Progressive spastic ... |
ORPHA:309271 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Limb hypertonia |
OMIM:614498 |
Mantle Cell Lymphoma |
|
Fatigue, Weight loss |
ORPHA:52416 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia |
OMIM:261630 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... |
ORPHA:98764 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Urinary incontinence, Bowel incontinence, Tremor, Limb pain, Tip-toe gait... |
ORPHA:512 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor,... |
OMIM:208920 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Astrocytosis, Abnormality of extrapyramidal... |
ORPHA:100070 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Small for gestational age, Cryptorchidism, Gliosis, Cerebellar hypoplasia, Fa... |
OMIM:214150 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Tremor, Abnormal cerebellum morphology, Babinski sign, Spasti... |
ORPHA:137898 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradyk... |
OMIM:137440 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Complex organic aciduria, Gliosis, Ataxia, Renal tubular dysfunction, Ne... |
ORPHA:506 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... |
OMIM:617810 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Babinski sign, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, D... |
ORPHA:309263 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Small for gestational age, Ataxia |
OMIM:278780 |
Myopathy, Myofibrillar, 7 |
|
Urinary incontinence, Elevated circulating creatine kinase concentration, Bowel incontinence, Enu... |
OMIM:617114 |
Classic Galactosemia |
|
Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Premature ovarian insu... |
ORPHA:79239 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Fatigue, Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Fasciculation... |
ORPHA:209335 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Gait ataxia, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebellar verm... |
ORPHA:33445 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr... |
OMIM:210000 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Spasticity, Urinary incontinence |
OMIM:613115 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb fasciculation... |
ORPHA:90117 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor... |
ORPHA:79263 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Aciduria, Paralysis, Astrocytosis, 3-Methylglutaconic aciduria, Hyper... |
OMIM:203700 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, H... |
OMIM:617435 |
Acute Intermittent Porphyria |
|
Hyponatremia, Back pain, Renal insufficiency, Dark urine, Urinary incontinence, Dysuria, Abdomina... |
ORPHA:79276 |
Lissencephaly, X-Linked, 2 |
|
Micropenis, Gliosis, Decreased testicular size, Spasticity |
OMIM:300215 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Fasciculations, ... |
OMIM:313200 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Recurrent urinary tract infections, Ataxia, Urinary incontinence, Broad-based gait |
OMIM:609033 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Cerebellar atrophy, Gliosis, Limb dystonia, Basal ganglia gliosis |
OMIM:604377 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... |
OMIM:615157 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Focal segmental glomerulo... |
OMIM:616239 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia |
OMIM:608033 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Abnormal urina... |
ORPHA:391417 |
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 With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Appendicular spasticity, Cerebral palsy, Cerebellar vermis hypoplasia, Urinary incontinence, Spas... |
OMIM:620070 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Fasciculations |
ORPHA:65684 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio... |
OMIM:612953 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Tremor, Cryptorchidism, Nephrotic syndrome, Hypertonia, Gait disturbance, Aplasia/Hy... |
ORPHA:1192 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia |
OMIM:617836 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Urinary incontinence |
OMIM:618402 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Exercise intolerance, Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bra... |
OMIM:261640 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Fatigue, Cerebellar atrophy, Urinary incontinence, Tremor, Inability to walk, Babinski sign, Tong... |
ORPHA:466768 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Hy... |
OMIM:616505 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Chronic fatigue, Weight loss |
ORPHA:100083 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur... |
ORPHA:363717 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Urinary incontinence, Bowel incontinence, Rigidity, Babinski sign, Spastic paraplegia, Upper limb... |
OMIM:615033 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unsteady gait, Dy... |
OMIM:609270 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Hypouricemia, Spastic tetraparesis, Increased urinary sulfite level, Ab... |
OMIM:252150 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Spastic tetraplegia, Hypertonia, Gliosis, Gait disturbance, Spasticity |
ORPHA:88619 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Urinary incontinence, Babinski sign, Head tremor, Spa... |
ORPHA:314404 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign... |
OMIM:607694 |
Kufor-Rakeb Syndrome |
|
Fatigue, Eyelid apraxia, Urinary incontinence, Bowel incontinence, Parkinsonism, Oculogyric crisi... |
ORPHA:306674 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, T... |
OMIM:302800 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... |
ORPHA:1170 |
Pick Disease Of Brain |
|
Gliosis |
OMIM:172700 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Obesit... |
OMIM:300055 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Tremor, Urinary urgency, Bradyk... |
OMIM:168600 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... |
OMIM:612716 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Parkinsonism, Stress urinary incontinence, Gait disturbance, Hemiplegia, Spasticity |
ORPHA:136 |
Orofaciodigital Syndrome Xviii |
|
Urinary incontinence |
OMIM:617927 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Abdominal pain, Weight loss, Slender build |
OMIM:613662 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Oculomotor apraxia, Inability to walk, Spasticity, Urinary incontinence |
OMIM:301041 |
Arachnoid Cyst |
|
Back pain, Urinary incontinence, Abdominal pain, Abnormal cerebellum morphology, Paraparesis, Ina... |
ORPHA:2356 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Ankle clonus, Gliosis, Falls, Difficulty walking, Dystonia |
OMIM:618222 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
Pure Autonomic Failure |
|
Dysuria, Impotence, Constitutional symptom, Urinary incontinence |
ORPHA:441 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Elevated circulating ac... |
ORPHA:26791 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo... |
OMIM:606159 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Urinary incontinence, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski ... |
OMIM:234200 |
4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Progressive gait at... |
ORPHA:289494 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Peroxisome Biogenesis Disorder 14B |
|
Hydrocele testis, Urinary incontinence |
OMIM:614920 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Aminoaciduria, Gliosis, Myoclonus, Elevated hepatic iron concentration, Basal... |
OMIM:614946 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Flank pain, Functional abnormality of the ... |
ORPHA:93108 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentrati... |
OMIM:614867 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101075 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Fatigue, Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremo... |
ORPHA:352649 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Inability to walk, Astrocytosis, Highly elevated creatine kinase, Pontocerebellar atrophy, Decrea... |
ORPHA:258 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Obesity, Shuffling... |
ORPHA:3077 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Urinary incontinence, Spastic tetraplegia, Progressive cerebellar ataxia,... |
OMIM:616640 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... |
OMIM:609454 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Fatigue, Rigors, Extrapyramidal muscular rigidity, Proteinuria, Elevated circulatin... |
ORPHA:94093 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbanc... |
ORPHA:216866 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Elevate... |
OMIM:614298 |
Cockayne Syndrome |
|
Urinary incontinence, Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, Ataxia, Cry... |
ORPHA:191 |
Non-Functioning Paraganglioma |
|
Fatigue, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine ... |
ORPHA:94080 |
Kufor-Rakeb Syndrome |
|
Fatigue, Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sig... |
OMIM:606693 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Porphyria, Acute Intermittent |
|
Dysuria, Urinary incontinence, Abdominal pain, Paralysis, Urinary retention, Respiratory paralysi... |
OMIM:176000 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Unsteady gait, R... |
ORPHA:90324 |
Cog5-Cdg |
|
Cerebellar atrophy, Neurogenic bladder, Urinary incontinence, Cryptorchidism, Truncal ataxia, Mic... |
ORPHA:263487 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Hypercalcemia, Tremor, Gait ataxia, Failure to thrive |
ORPHA:476126 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Lingual dy... |
ORPHA:93958 |
Paganini-Miozzo Syndrome |
|
Hyperalaninemia, Urinary incontinence |
OMIM:301025 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Gliosis, Myoclonus, Dystonia |
OMIM:618321 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Reduced haptoglobin level |
OMIM:612126 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C... |
OMIM:615673 |
Isaacs Syndrome |
|
Fasciculations, Weight loss |
ORPHA:84142 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Spastic tet... |
OMIM:252160 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Hemiparesis, Pseudobulbar paralysis, Gait disturbance, Urinary incontinence |
OMIM:125310 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Pill-rol... |
ORPHA:3095 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Involuntary movements, Urinary incontinence |
ORPHA:98784 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls, Cerebellar vermis atrophy |
OMIM:616719 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Failure to thrive |
OMIM:619556 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101078 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Low back pain, Urinary incontinence, Hand tremor |
OMIM:608654 |
Encephalitis Lethargica |
|
Urinary incontinence, Bowel incontinence, Parkinsonism, Tremor, Limb pain, Myalgia |
ORPHA:83600 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aplasia/Hypoplasia o... |
ORPHA:99027 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Tremor, Hypogonadism, Myoclonus |
ORPHA:97229 |
Kleefstra Syndrome Due To A Point Mutation |
|
Abnormality of the kidney, Large for gestational age, Gliosis, Cerebellar hypoplasia, Vesicourete... |
ORPHA:261652 |
Acute Transverse Myelitis |
|
Back pain, Fatigue, Decreased circulating copper concentration, Urinary incontinence, Paraparesis... |
ORPHA:139417 |
Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare... |
ORPHA:3208 |
Undifferentiated Pleomorphic Sarcoma |
|
Fatigue, Weight loss |
ORPHA:2023 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... |
OMIM:612438 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain, Involuntary movements, Elevated circulating alpha-fetoprotein concentration, Heparan sulfat... |
OMIM:615273 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ... |
ORPHA:228360 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Ataxia, Cachexia, Bowel incontinence, Choreoathetosis, Abnormality ... |
ORPHA:702 |
Attrv30M Amyloidosis |
|
Nephropathy, Impotence, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
Christianson Syndrome |
|
Cerebellar atrophy, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the ce... |
ORPHA:85278 |
Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Abdominal pain, Weight loss, Menorrhagia |
ORPHA:168816 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Childhood Disintegrative Disorder |
|
Urinary incontinence, Bowel incontinence |
ORPHA:168782 |
East Syndrome |
|
Cerebellar atrophy, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Enure... |
ORPHA:199343 |
Oculopharyngodistal Myopathy |
|
Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis |
ORPHA:98897 |
Glycogen Storage Disease Ii |
|
Exercise intolerance, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevat... |
OMIM:232300 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat... |
ORPHA:542310 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Small for gestational age, Inability to walk, Chorea, Generalized aminoacidur... |
ORPHA:404454 |
Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Tremor, Nephrolithiasis |
ORPHA:212 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysme... |
OMIM:614381 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Fatigue, Cerebellar atrophy, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine ... |
OMIM:607426 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary urgency, Vocal cord paresis, Urinary incontinence |
OMIM:606071 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Truncal obesity, Lower limb hypertoni... |
OMIM:301072 |
Chronic Hiccup |
|
Recurrent singultus, Weight loss |
ORPHA:396 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... |
OMIM:128100 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... |
OMIM:613280 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Aceruloplasminemia |
|
Abnormal dentate nucleus morphology, Torticollis, Decreased circulating ceruloplasmin concentrati... |
ORPHA:48818 |
Focal Myositis |
|
Myalgia, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... |
ORPHA:70594 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... |
ORPHA:529665 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait dist... |
ORPHA:83629 |
Isolated Epispadias |
|
Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence |
ORPHA:93928 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ... |
OMIM:233910 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Gliosis, Sp... |
OMIM:248500 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Gliosis... |
OMIM:231680 |
Rhabdoid Tumor |
|
Renal neoplasm, Cerebral palsy, Hypercalcemia, Abdominal pain, Weight loss, Hematuria, Hemiplegia |
ORPHA:69077 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Nocturia, Weight loss |
ORPHA:178029 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... |
ORPHA:442835 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Weight loss |
ORPHA:79238 |
Neural Tube Defects, Susceptibility To |
|
Urinary incontinence |
OMIM:182940 |
Arnold-Chiari Malformation Type I |
|
Urinary incontinence, Babinski sign, Vocal cord paralysis, Gait ataxia, Chiari type I malformatio... |
ORPHA:268882 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,... |
OMIM:617675 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... |
OMIM:618885 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
African Trypanosomiasis |
|
Fatigue, Rigors, Renal insufficiency, Abnormal central motor function, Urinary incontinence, Invo... |
ORPHA:3385 |
Wilson Disease |
|
Back pain, Abnormality of the menstrual cycle, Bone pain, Increased body weight, Weight loss, Clu... |
ORPHA:905 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic aciduria, Ami... |
ORPHA:1933 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Ataxia, Gait disturbance |
ORPHA:99014 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Hypospadias, Unilateral cryptorchidism, Female infertility, Crypt... |
ORPHA:261529 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ataxia, Abdominal pain, Elevated urinary dopamine level, Bo... |
OMIM:256700 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Periodic paralysis, Weight loss |
OMIM:613239 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Abnormal dentate nucleus morphology,... |
ORPHA:909 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tre... |
OMIM:254900 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Steroid-dependent nephrotic syndrome, Urinary incontinence, Ataxia, Failur... |
OMIM:300912 |
Moynahan Syndrome |
|
Hypogonadism, Cachexia |
ORPHA:2574 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Rigidity, Tremor, Bradykinesia, Spastic par... |
OMIM:300894 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Parkinsonism |
OMIM:606688 |
Meningioma |
|
Back pain, Hemifacial spasm, Abnormal central motor function, Ataxia, Urinary incontinence, Hypog... |
ORPHA:2495 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Flank pain, Retrograde ejaculation, Fatigu... |
ORPHA:49041 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigue, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Ataxia, Elevated circulat... |
ORPHA:42 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Inability to walk, Horseshoe kidney, Choreoathetosis, Dystonia, Spast... |
OMIM:617664 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Elevated circulating alph... |
OMIM:606002 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Irregular menstruation, Urinary incontinence, Bowel incontinence |
OMIM:616482 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Torticollis, Metrorrhagia, Elevated carcinoma antigen 125 level, Elevated circulating ... |
ORPHA:370348 |
Spontaneous Periodic Hypothermia |
|
Fatigue, Ataxia, Tremor, Gait disturbance |
ORPHA:29822 |
Tetanus |
|
Rigors, Elevated circulating creatine kinase concentration, Bowel incontinence, Elevated urinary ... |
ORPHA:3299 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Cachexia, Abnormal circulating creatine concentration, Chorea, Athetosis, Hypertonia, Dys... |
ORPHA:52503 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fatigue, Weight loss |
ORPHA:86893 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Fatigue, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urin... |
ORPHA:276621 |
Parkinson Disease 20, Early-Onset |
|
Fatigue, Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gai... |
OMIM:615530 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Classic Hodgkin Lymphoma |
|
Fatigue, Ataxia, Bone pain, Weight loss, Chest pain |
ORPHA:391 |
Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Abdominal pain, Paralysis, Hyperm... |
ORPHA:358 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Urinary incontinence |
ORPHA:64280 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Dandy-Walker malformation, Broad-based gait, Tremor, Inability to walk, ... |
OMIM:617988 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Spastic tetraparesis, Thick... |
OMIM:619487 |
Fatal Familial Insomnia |
|
Urinary retention, Myoclonus, Ataxia, Weight loss |
OMIM:600072 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Fatigue, Hypogonadotropic hypogonadism, Abdominal pain, Increased circulating ferritin concentrat... |
ORPHA:465508 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Elevated circulating creatin... |
OMIM:615356 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Tremor, Dysmetria, Primary amenorrhea, Progressive cerebellar ataxia, Dysdiadochokinesis, Myalgia... |
ORPHA:502423 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Renal agenesis, Ataxia, Hypogonadotropic hypogonadism, Tremor, ... |
ORPHA:478 |
Polyarteritis Nodosa |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Abdominal pain,... |
ORPHA:767 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Cerebellar hypoplasia, ... |
OMIM:620327 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Ataxia, Tremor,... |
ORPHA:3008 |
Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Ataxia, Hyperammonemia, Weight loss |
ORPHA:79242 |
Pfapa Syndrome |
|
Fatigue, Arthralgia, Weight loss, Abdominal pain |
ORPHA:42642 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Tremor, Unsteady gait, Weight loss, Arthralgia, Abnormality of extr... |
ORPHA:354 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cachexia, Abdominal pain, Weight l... |
ORPHA:298 |
Follicular Lymphoma |
|
Fatigue, Night sweats, Weight loss |
ORPHA:545 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
Renal Nutcracker Syndrome |
|
Fatigue, Dyspareunia, Proteinuria, Dysmenorrhea, Abdominal pain, Flank pain, Weight loss, Hematur... |
ORPHA:71273 |
Pleural Mesothelioma |
|
Constitutional symptom, Chest pain, Weight loss |
ORPHA:50251 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Proteinuria, Ataxia, ... |
OMIM:212065 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Urinary incontinence |
OMIM:243000 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Chronic fatigue, Renal salt wasting, Cryptorchi... |
ORPHA:361 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Lower limb spasticity, Bilateral fetal pyelectasis, Large for gesta... |
OMIM:300868 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Exercise intolerance, Cerebellar atrophy, Ataxia, Lacticaciduria, Tubulointerst... |
OMIM:124000 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Spasticity |
OMIM:616801 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Fatigue, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urin... |
ORPHA:29072 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Gliosis, Parkinsonism, Apraxia |
OMIM:607485 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Abdominal pain,... |
ORPHA:54251 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Ketonuria, Hypospadias, Small for gestational age, Ataxia, Tremor, ... |
OMIM:220111 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Renal cyst, Gliosis, Increased circulating very long-chain fatty acid concent... |
OMIM:261515 |
Thymic Carcinoma |
|
Fatigue, Chest pain, Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Familial Colorectal Cancer Type X |
|
Fatigue, Renal neoplasm, Glioblastoma multiforme, Abdominal pain, Abnormal circulating creatine c... |
ORPHA:440437 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Polymyositis |
|
Fatigue, Elevated circulating creatine kinase concentration, Abdominal pain, Weight loss, Arthral... |
ORPHA:732 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Tremor, Paralysis,... |
ORPHA:79102 |
Leishmaniasis |
|
Fatigue, Night sweats, Weight loss, Arthralgia, Hypoalbuminemia |
ORPHA:507 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Ataxia, Tremor, Exercise-induced myalgia, Hyperbilirubinemia, Myoglobinuria |
ORPHA:713 |
Camptobrachydactyly |
|
Urinary incontinence |
OMIM:114150 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Broad-based gait, Hypospadias, Small for gestational age, Uni... |
ORPHA:268261 |
Ataxia-Telangiectasia |
|
Ataxia, Female hypogonadism, Elevated circulating alpha-fetoprotein concentration, Tremor, Inabil... |
OMIM:208900 |
Cryptogenic Organizing Pneumonia |
|
Fatigue, Elevated circulating C-reactive protein concentration, Night sweats, Weight loss, Arthra... |
ORPHA:1302 |
Immunodeficiency 27A |
|
Night sweats, Hypoalbuminemia, Weight loss |
OMIM:209950 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Rett Syndrome |
|
Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Dystonia, Spasticity |
OMIM:312750 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Cachexia, Babinski sign, Dystonia, Spasticity |
OMIM:618186 |
Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Tremor, Rigidity, Bradykinesia, Male sexual dysfunction, Gait imbalanc... |
ORPHA:2828 |
Hyperlysinemia |
|
Failure to thrive, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Argini... |
ORPHA:2203 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemi... |
ORPHA:217260 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Small for gestational age, Tremor, Cryptorchidism, Gliosis, Dystonia, Ureteropelvi... |
ORPHA:506358 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Takayasu Arteritis |
|
Fatigue, Weight loss, Chest pain, Arthralgia, Myalgia, Gangrene |
ORPHA:3287 |
Whipple Disease |
|
Hyponatremia, Fatigue, Ataxia, Cachexia, Abdominal pain, Abnormal pyramidal sign, Chest pain, Art... |
ORPHA:3452 |
Adnp Syndrome |
|
Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Truncal obesity, Hypert... |
ORPHA:404448 |
Split Cord Malformation |
|
Back pain, Low back pain, Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphinct... |
ORPHA:573278 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Gait disturbance, Proteinuria, Cachexia |
ORPHA:2774 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic s... |
ORPHA:2239 |
Mast Cell Sarcoma |
|
Fatigue, Weight loss |
ORPHA:66661 |
Solitary Fibrous Tumor |
|
Fatigue, Low back pain, Reduced C-peptide level, Night sweats, Weight loss, Urinary retention, Hy... |
ORPHA:2126 |
Liposarcoma |
|
Fatigue, Weight loss, Abnormality of the kidney, Abdominal pain |
ORPHA:69078 |
Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Abdominal pain, Weight loss, Arthralgia, Hypocalcemia, Infertility, Failure to thrive |
OMIM:212750 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Periodic paralysis, Weight loss |
OMIM:188580 |
Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
Lynch Syndrome |
|
Fatigue, Glioblastoma multiforme, Abdominal pain, Hemiplegia/hemiparesis, Abnormal pyramidal sign... |
ORPHA:144 |
Hirschsprung Disease |
|
Weight loss, Failure to thrive in infancy, Abdominal pain |
ORPHA:388 |
Refractory Celiac Disease |
|
Abdominal pain, Hypomagnesemia, Weight loss, Arthralgia, Hypoalbuminemia, Hypocalcemia, Hypophosp... |
ORPHA:398063 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Broad-based gait, Cachexia, Tremor, Obesity, Hypogonadism, Decreased testicu... |
ORPHA:85293 |
Tsh-Secreting Pituitary Adenoma |
|
Fatigue, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality... |
ORPHA:91347 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Urinary incontinence, Clonus, Hypertonia, Myoclonic spasms |
ORPHA:447997 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Fatigue, Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Hemiplegia/hemiparesis... |
ORPHA:183 |
Majeed Syndrome |
|
Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Bone pain, Weight loss, Arthralgia, Mya... |
ORPHA:77297 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Fatigue, Renal insufficiency, Decreased female libido, Hypercalcemia, Renal salt wa... |
ORPHA:95409 |
Systemic Capillary Leak Syndrome |
|
Fatigue, Renal insufficiency, Abdominal pain, Oliguria, Weight loss, Myalgia, Constitutional symp... |
ORPHA:188 |
Ménétrier Disease |
|
Abdominal pain, Weight loss, Asthenia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Erdheim-Chester Disease |
|
Fatigue, Renal insufficiency, Ataxia, Dysuria, Hypogonadotropic hypogonadism, Abdominal pain, Abn... |
ORPHA:35687 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Fatigue, Exercise intolerance, Cerebellar atrophy, Resting tremor, Ataxia, Elevated circulating c... |
ORPHA:254892 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Exercise intolerance, Broad-based gait, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Weight los... |
OMIM:607459 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Yao Syndrome |
|
Abdominal pain, Nephrolithiasis, Weight loss, Chest pain, Arthralgia, Myalgia |
OMIM:617321 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Hypogonadism, Ataxia, Elevated circulating creatine kinase concentration |
ORPHA:79095 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Night sweats, Weight loss, Arthralgia, Ast... |
ORPHA:2902 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Ataxia, Hyperammonemia, Weight loss, Body odor, Hyperuricemia, Extrapyramidal dyskines... |
ORPHA:134 |
Glossopharyngeal Neuralgia |
|
Episodic pain, Ear pain, Vocal cord paralysis, Weight loss, Chiari type I malformation, Tongue pa... |
ORPHA:221098 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Small for gestational age, Ataxia, Tremor, Cryptorchidism, Hyperammonemia, 3-Methylg... |
OMIM:614052 |
Rheumatoid Arthritis |
|
Fatigue, Arthralgia, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Renpenning Syndrome |
|
Hypospadias, Decreased testicular size, Cachexia |
ORPHA:3242 |
Pseudomyxoma Peritonei |
|
Weight loss, Abdominal pain |
ORPHA:26790 |
Eosinophilic Fasciitis |
|
Fatigue, Arthralgia, Myalgia, Weight loss |
ORPHA:3165 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Bowel incontinence, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss, Abdominal pain |
OMIM:266600 |
Inflammatory Bowel Disease 11 |
|
Weight loss, Abdominal pain |
OMIM:191390 |
47,Xyy Syndrome |
|
Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Dysg... |
ORPHA:8 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Renal agenes... |
OMIM:619522 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Tremor, Decreased serum zinc, Hypogonadism, Failure to thrive, Decreased testicular size |
OMIM:201100 |
Eosinophilic Gastroenteritis |
|
Weight loss, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Abdominal pain |
ORPHA:2070 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss |
ORPHA:1979 |
Al Amyloidosis |
|
Fatigue, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnorma... |
ORPHA:85443 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Desmoplastic Small Round Cell Tumor |
|
Testicular neoplasm, Weight loss, Cachexia, Abdominal pain |
ORPHA:83469 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... |
ORPHA:171876 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Abdominal pain, Abnormality of reproductive system physiology, ... |
ORPHA:1501 |
Igg4-Related Aortitis |
|
Low back pain, Elevated circulating C-reactive protein concentration, Abdominal pain, Weight loss... |
ORPHA:449400 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Cachexia, Poor coordination, H... |
OMIM:610965 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Exercise intolerance, Dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric aciduria, Chore... |
ORPHA:25 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss, Asthenia, Elevated circulating alpha-fetoprotein concentration, Abdominal pain |
ORPHA:90003 |
Acute Promyelocytic Leukemia |
|
Fatigue, Metrorrhagia, Abdominal pain, Bone pain, Weight loss, Hematuria, Gangrene |
ORPHA:520 |
Flynn-Aird Syndrome |
|
Ataxia, Cachexia |
ORPHA:2047 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... |
OMIM:613179 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Cryptorchidism, Obesity, Enuresis nocturna, Truncal obesity, ... |
OMIM:615873 |
Anaplastic Thyroid Carcinoma |
|
Pain, Vocal cord paralysis, Weight loss |
ORPHA:142 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Fatigue, Premature ovarian insufficiency, Hypercalcemia, Abdominal pain, Hyperkalem... |
ORPHA:199299 |
X-Linked Agammaglobulinemia |
|
Fatigue, Failure to thrive, Hypocalcemia, Weight loss |
ORPHA:47 |
Benign Recurrent Intrahepatic Cholestasis |
|
Fatigue, Weight loss, Abdominal pain |
ORPHA:65682 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Elevated circulating creatinine concentration, Weight loss, Hematuria, Chest pain |
ORPHA:90060 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fatigue, Ketonuria, Ataxia, Spastic hemiparesis, Hyperammonemia, Weight loss, 3-Methylglutaric ac... |
ORPHA:20 |
Giant Cell Arteritis |
|
Fatigue, Renal insufficiency, Ataxia, Sudden cardiac death, Abdominal pain, Weight loss, Hematuri... |
ORPHA:397 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Large for g... |
OMIM:614080 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
Nephroblastoma |
|
Hematuria, Nephroblastoma, Weight loss, Abdominal pain |
ORPHA:654 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Idiopathic Bronchiectasis |
|
Halitosis, Chest pain, Cachexia |
ORPHA:60033 |
Addison Disease |
|
Hyponatremia, Fatigue, Premature ovarian insufficiency, Primary testicular failure, Hypercalcemia... |
ORPHA:85138 |
Riddle Syndrome |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Weight loss, Enures... |
ORPHA:420741 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
Currarino Syndrome |
|
Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Horseshoe kidney, V... |
OMIM:176450 |
Osteosarcoma |
|
Pain, Weight loss |
ORPHA:668 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... |
ORPHA:1578 |
Choreoacanthocytosis |
|
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord... |
ORPHA:2388 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Myoclonus, Decereb... |
ORPHA:206436 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Urinary incontinence, Chiari type I malformation, Vesicoureteral re... |
ORPHA:261537 |
Aggressive Systemic Mastocytosis |
|
Fatigue, Abdominal pain, Bone pain, Weight loss, Arthralgia, Abdominal cramps, Constitutional sym... |
ORPHA:98850 |
Multiple Myeloma |
|
Fatigue, Hypercalcemia, Bone pain, Elevated circulating creatinine concentration, Abnormality of ... |
ORPHA:29073 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fatigue, Bone pain, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:324964 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chest pain, Asthenia, Weight loss |
ORPHA:411703 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Hypospadias, Bilateral cryptorchidism, Irregular menstruation, Decreased fertil... |
ORPHA:90793 |
Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropen... |
ORPHA:2152 |
Cap Polyposis |
|
Weight loss, Abdominal pain |
ORPHA:160148 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Micropenis, Failure to thrive, Gliosis |
OMIM:617403 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
Chronic Beryllium Disease |
|
Fatigue, Weight loss |
ORPHA:133 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Abdominal pain, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased ... |
OMIM:619377 |
Kaposi Sarcoma |
|
Fatigue, Weight loss |
ORPHA:33276 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Aminoaciduria, Hypoalbumi... |
OMIM:277900 |
Primary Intestinal Lymphangiectasia |
|
Abdominal pain, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Alveolar Echinococcosis |
|
Fatigue, Low back pain, Ataxia, Abdominal pain, Renal cyst, Weight loss, Hemiparesis, Chest pain,... |
ORPHA:284 |
Malignant Peritoneal Mesothelioma |
|
Weight loss, Abdominal pain |
ORPHA:168811 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Hyperamm... |
OMIM:251100 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Cystic Echinococcosis |
|
Fatigue, Abnormality of the testis size, Renal cyst, Weight loss, Membranous nephropathy, Hyperbi... |
ORPHA:400 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Weight loss, Difficulty walking |
OMIM:164310 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Abdominal pain, Weight loss, Elevated ... |
OMIM:603041 |
Aromatase Deficiency |
|
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Stevens-Johnson Syndrome |
|
Fatigue, Dyspareunia, Renal insufficiency, Dysuria, Sudden cardiac death, Abdominal pain, Abnorma... |
ORPHA:36426 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Urinary incontinence, Chiari type I malformation, Vesicoureteral re... |
ORPHA:261552 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Fatigue, Intraalveolar phospholipid accumulation, Wei... |
ORPHA:747 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Urinary incontinence, Difficulty walking |
OMIM:619482 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Abnormal renal morphology, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Castleman Disease |
|
Fatigue, Renal insufficiency, Elevated circulating C-reactive protein concentration, Abdominal pa... |
ORPHA:160 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Simple Cryoglobulinemia |
|
Fatigue, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality ... |
ORPHA:91139 |
Silver-Russell Syndrome |
|
Hypospadias, Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Abnormality of the ... |
ORPHA:813 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Fatigue, Weight loss |
ORPHA:3226 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Low plasma citrulline, Abnormal blood ion concentration, Weight loss |
ORPHA:95427 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
Parathyroid Carcinoma |
|
Fatigue, Renal insufficiency, Hypercalcemia, Renal hamartoma, Testicular neoplasm, Bone pain, Nep... |
ORPHA:143 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Chest pain, Hypercalcemia, Weight loss |
ORPHA:97289 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Micr... |
ORPHA:64 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Diets-Jongmans Syndrome |
|
Cryptorchidism, Hypospadias, Gliosis |
OMIM:618846 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Increased circulating ferritin c... |
OMIM:615846 |
Cronkhite-Canada Syndrome |
|
Fatigue, Cachexia, Abdominal pain |
ORPHA:2930 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Exercise intolerance, Elevated hemoglobin A1c, Tremor, Babinski sign, Renal tubular dysfunction, ... |
OMIM:616539 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Acute Monoblastic/Monocytic Leukemia |
|
Fatigue, Oliguria, Weight loss |
ORPHA:514 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Spastic tetraplegia, Cachexia |
ORPHA:371364 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Granulomatosis With Polyangiitis |
|
Fatigue, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulatin... |
ORPHA:900 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Failure to thrive, Ketonuria, Ataxia, Abnormality of the upper urinary tract, Weight los... |
ORPHA:99885 |
Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Urinary incontinence |
OMIM:619934 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Chronic fatigue, Elevated circulating alpha-fetoprotein concentration, Night sweats, Episodic abd... |
ORPHA:100085 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Chest pain, Weight loss |
ORPHA:79127 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema... |
ORPHA:1018 |
Insulin-Resistance Syndrome Type B |
|
Fatigue, Decreased body weight, Proteinuria, Abnormality of body weight, Abnormal circulating fat... |
ORPHA:2298 |
19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Failure to thrive, Hypospadias, Cachexia |
ORPHA:217346 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Loeffler Endocarditis |
|
Fatigue, Chest pain, Weight loss |
ORPHA:75566 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hypogonadotropic hypogonadism, Renal salt wasting, Abnormality of the menstrual cyc... |
ORPHA:90794 |
Juvenile Dermatomyositis |
|
Calcinosis, Fatigue, Elevated circulating creatine kinase concentration, Elevated circulating C-r... |
ORPHA:93672 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss, Arthralgia, Myalgia, Abdominal pain |
ORPHA:33577 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Tremor, Elevated circulating creatinine concentration, In... |
OMIM:274150 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria... |
ORPHA:48435 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Abdominal pain, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Hypospadias, Obesity, Weight loss |
ORPHA:251071 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fatigue, Chills, Weight loss |
ORPHA:86884 |
Poems Syndrome |
|
Fatigue, Weight loss, Hypogonadism, Erectile dysfunction, Pain |
ORPHA:2905 |
Pulmonary Alveolar Microlithiasis |
|
Fatigue, Calcium nephrolithiasis, Abnormal circulating calcium concentration, Decreased fertility... |
ORPHA:60025 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypospadias, Weight loss, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Micropenis, Reduce... |
OMIM:613673 |
Familial Gestational Hyperthyroidism |
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Hand tremor, Weight loss |
ORPHA:99819 |
Behçet Disease |
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Fatigue, Glomerulopathy, Renal insufficiency, Ataxia, Abdominal pain, Orchitis, Abnormal pyramida... |
ORPHA:117 |
Felty Syndrome |
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Recurrent urinary tract infections, Arthralgia, Weight loss |
ORPHA:47612 |
Amoebiasis Due To Entamoeba Histolytica |
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Weight loss, Chest pain, Hypoalbuminemia, Abdominal pain |
ORPHA:67 |
Scorpion Envenomation |
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Pain, Hemifacial spasm, Increased circulating NT-proBNP concentration, Ketonuria, Ataxia, Abdomin... |
ORPHA:466677 |
Tetrasomy 12P |
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Cachexia |
ORPHA:884 |
Aredyld Syndrome |
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Abnormality of the ureter, Cachexia |
ORPHA:1133 |
Pyomyositis |
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Renal insufficiency, Sudden cardiac death, Weight loss, Myalgia, Testicular teratoma |
ORPHA:764 |
Primary Myelofibrosis |
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Fatigue, Flank pain, Constitutional symptom, Cachexia |
ORPHA:824 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Weight loss |
ORPHA:139402 |
Fanconi Anemia, Complementation Group A |
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Duplicated collecting system, Male infertility, Renal agenesis, Small for gestational age, Hyperg... |
OMIM:227650 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Abdominal pain, Hyperkalemia, A... |
ORPHA:275761 |
Caroli Disease |
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Abdominal pain, Conjugated hyperbilirubinemia, Abdominal rigidity, Weight loss, Polycystic kidney... |
ORPHA:53035 |
Thymoma |
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Glomerulonephritis, Night sweats, Weight loss, Chest pain, Myalgia |
ORPHA:99867 |
Schwartz-Jampel Syndrome |
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Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the ureter, Nephroli... |
ORPHA:800 |
Partial Androgen Insensitivity Syndrome |
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Male infertility, Hypospadias, Bilateral cryptorchidism, Primary amenorrhea, Perineal hypospadias... |
ORPHA:90797 |
Okamoto Syndrome |
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Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... |
ORPHA:2729 |
Malignant Atrophic Papulosis |
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Fatigue, Abdominal pain, Weight loss, Chest pain, Abnormality of the lower urinary tract |
ORPHA:679 |
Toxic Epidermal Necrolysis |
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Fatigue, Renal insufficiency, Dysuria, Sudden cardiac death, Abdominal pain, Abnormality of the u... |
ORPHA:537 |
Brucellosis |
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Fatigue, Small for gestational age, Glomerulonephritis, Elevated circulating C-reactive protein c... |
ORPHA:1304 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Elevated circulating C-reactive protein concentration, Flank pain, Renal interstitial edema, Ster... |
ORPHA:91500 |
Lymphoid Interstitial Pneumonia |
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Fatigue, Failure to thrive, Enlarged kidney, Weight loss |
ORPHA:79128 |
Hermansky-Pudlak Syndrome |
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Fatigue, Renal insufficiency, Menometrorrhagia, Abdominal pain, Weight loss |
ORPHA:79430 |
Klatskin Tumor |
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Fatigue, Weight loss, Abdominal pain |
ORPHA:99978 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Tubulointerstitial neph... |
ORPHA:37042 |
Imerslund-Gräsbeck Syndrome |
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Failure to thrive, Proteinuria, Weight loss |
ORPHA:35858 |
Bronchial Neuroendocrine Tumor |
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Chest pain, Night sweats, Weight loss |
ORPHA:97287 |
Congenital Tufting Enteropathy |
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Failure to thrive, Weight loss |
ORPHA:92050 |
Fanconi Anemia |
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Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
Pemphigus Vulgaris |
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Weight loss |
ORPHA:704 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Fatigue, Abdominal pain, Bone pain, Weight loss, Arthralgia, Myalgia |
ORPHA:98849 |
Pancreatoblastoma |
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Weight loss, Elevated maternal serum alpha-fetoprotein, Abdominal pain |
ORPHA:677 |
Ciliary Dyskinesia, Primary, 19 |
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Male infertility |
OMIM:614935 |
Short Syndrome |
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Weight loss |
ORPHA:3163 |
Polycythemia Vera |
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Fatigue, Arthralgia, Weight loss, Abdominal pain |
ORPHA:729 |
Camurati-Engelmann Disease |
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Waddling gait, Ataxia, Cachexia, Bone pain, Urinary retention, Hypogonadism, Slender build |
ORPHA:1328 |
Neuroendocrine Tumor Of The Colon |
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Weight loss, Abdominal pain |
ORPHA:100080 |
Medullary Thyroid Carcinoma |
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Weight loss |
ORPHA:1332 |
Wolman Disease |
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Cachexia |
ORPHA:75233 |
Trisomy 18 |
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Cachexia, Abnormality of the upper urinary tract, Cryptorchidism, Hypertonia, Chiari malformation... |
ORPHA:3380 |
Budd-Chiari Syndrome |
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Weight loss, Abdominal pain |
ORPHA:131 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
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Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
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Male infertility, Azoospermia |
OMIM:277180 |
Multiple Endocrine Neoplasia Type 1 |
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Hypercalcemia, Abdominal pain, Ependymoma, Nephrolithiasis, Hypercalciuria, Weight loss, Impotenc... |
ORPHA:652 |
46,Xy Partial Gonadal Dysgenesis |
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Male infertility, Hypoplasia of penis, Streak ovary, Hypospadias, Nephroblastoma, Hypergonadotrop... |
ORPHA:251510 |
Granulomatosis With Polyangiitis |
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Fatigue, Weight loss, Asthenia, Myalgia, Gangrene |
OMIM:608710 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Neuroendocrine Tumor Of The Rectum |
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Weight loss, Abdominal pain |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
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Weight loss, Abdominal pain |
ORPHA:100082 |
Complete Androgen Insensitivity Syndrome |
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Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Spasticity, Ataxia, Cachexia |
ORPHA:220295 |
Microsporidiosis |
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Cachexia, Abdominal pain, Prostatitis, Urethritis, Weight loss, Abnormality of the urinary system... |
ORPHA:2552 |
Kikuchi-Fujimoto Disease |
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Fatigue, Ataxia, Elevated circulating C-reactive protein concentration, Night sweats, Weight loss... |
ORPHA:50918 |
Q Fever |
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Fatigue, Night sweats, Weight loss, Hematuria, Myalgia |
ORPHA:781 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Male infertility, Streak ovary, Hypospadias, Abnormality of the kidney, Unilateral cryptorchidism... |
ORPHA:1772 |
Carney-Stratakis Syndrome |
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Weight loss, Abdominal pain |
ORPHA:97286 |
Acrodermatitis Enteropathica |
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Failure to thrive, Weight loss |
ORPHA:37 |
Bloom Syndrome |
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Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Small for ... |
ORPHA:125 |
Rat-Bite Fever |
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Back pain, Rigors, Weight loss, Arthralgia, Myalgia, Chills |
ORPHA:31205 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Familial Pancreatic Carcinoma |
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Back pain, Weight loss, Chronic fatigue, Abdominal pain |
ORPHA:1333 |
Gallbladder Neuroendocrine Tumor |
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Weight loss, Chronic fatigue, Episodic abdominal pain |
ORPHA:100086 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Azoospermia, Hypertonia, ... |
ORPHA:2072 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
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Hemiplegia, Cachexia |
ORPHA:3217 |
Goodpasture Syndrome |
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Fatigue, Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria... |
OMIM:233450 |
Fryns-Smeets-Thiry Syndrome |
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Cachexia |
ORPHA:2058 |
Nijmegen Breakage Syndrome |
|
Pollakisuria, Glioma, Cachexia |
ORPHA:647 |
Primary Sclerosing Cholangitis |
|
Fatigue, Renal insufficiency, Abdominal pain, Weight loss, Hypoalbuminemia |
ORPHA:171 |
Familial Thrombocytosis |
|
Chest pain, Weight loss |
ORPHA:71493 |
Mucolipidosis Type Ii |
|
Inability to walk, Weight loss |
ORPHA:576 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss, Episodic abdominal pain |
ORPHA:100075 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Weight loss, Elevated circulating C-reactive protein concentration, Abdominal pain |
OMIM:301074 |
Vipoma |
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Chronic fatigue, Hypercalcemia, Weight loss, Episodic abdominal pain, Hypokalemia |
ORPHA:97282 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Fatigue, Weight loss, Abdominal pain |
ORPHA:309031 |
Reactive Arthritis |
|
Weight loss, Recurrent urinary tract infections, Arthralgia, Abdominal pain |
ORPHA:29207 |
Ileal Neuroendocrine Tumor |
|
Weight loss, Chronic fatigue, Hydronephrosis, Episodic abdominal pain |
ORPHA:100078 |
Malt Lymphoma |
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Fatigue, Weight loss, Abdominal pain |
ORPHA:52417 |
Somatostatinoma |
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Weight loss, Chronic fatigue, Hypercalcemia, Episodic abdominal pain |
ORPHA:97283 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Weight loss, Hypercalcemia, Episodic abdominal pain |
ORPHA:913 |
Tropical Pancreatitis |
|
Epigastric pain, Weight loss |
ORPHA:103918 |
Ppoma |
|
Weight loss, Hypercalcemia, Episodic abdominal pain |
ORPHA:97278 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Arthralgia, Myalgia, Weight loss |
ORPHA:85408 |
Glucagonoma |
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Weight loss, Chronic fatigue, Hypercalcemia, Episodic abdominal pain |
ORPHA:97280 |
Immunodeficiency 31C |
|
Fatigue, Weight loss |
OMIM:614162 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Hip pain, Weight loss, Shuffling gait, Severe failure to thrive, Delayed men... |
ORPHA:740 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Cachexia, Abdominal pain |
ORPHA:79076 |
Congenital Fiber-Type Disproportion Myopathy |
|
Fatigue, Failure to thrive, Weight loss |
ORPHA:2020 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Increased urinary cortisol level, Increased body weight, Secondary amenorrhea, Weight loss, Trunc... |
ORPHA:99889 |
Nocardiosis |
|
Fatigue, Ocular pain, Night sweats, Weight loss, Chest pain, Chills |
ORPHA:31204 |
Grfoma |
|
Weight loss, Hypercalcemia, Episodic abdominal pain |
ORPHA:97261 |
Dermatomyositis |
|
Fatigue, Weight loss, Arthralgia, Myalgia, Gangrene |
ORPHA:221 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Chronic Graft Versus Host Disease |
|
Phimosis, Abdominal pain, Urinary bladder inflammation, Weight loss, Hematuria, Chest pain, Arthr... |
ORPHA:99921 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Weight loss, Hypoalbuminem... |
OMIM:619381 |
Norrie Disease |
|
Clonus, Cachexia, Cryptorchidism, Hypertonia, Erectile dysfunction, Aplasia/Hypoplasia of the cer... |
ORPHA:649 |
Sarcoidosis |
|
Fatigue, Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephro... |
ORPHA:797 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Cystic Fibrosis |
|
Male infertility, Failure to thrive, Hypercalciuria |
OMIM:219700 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Fatigue, Tubulointerstitial nephritis, Weight loss |
ORPHA:79078 |
Marfan Syndrome |
|
Arthralgia/arthritis, Chronic fatigue, Cachexia, Myalgia, Slender build |
ORPHA:558 |
Sarcoidosis, Susceptibility To, 1 |
|
Chest pain, Hypercalciuria, Weight loss |
OMIM:181000 |
Stickler Syndrome |
|
Cachexia, Hemiplegia/hemiparesis, Bone pain, Arthralgia, Slender build |
ORPHA:828 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Proteus Syndrome |
|
Cachexia, Testicular neoplasm, Sudden cardiac death, Long penis, Renal cyst, Macroorchidism |
ORPHA:744 |
Tropical Endomyocardial Fibrosis |
|
Fatigue, Hypoalbuminemia, Cachexia |
ORPHA:75565 |