Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Spastic Diplegia And Impaired Intellectual Development |
|
Spastic diplegia |
OMIM:270600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Nevus, Epidermal |
|
Melanocytic nevus |
OMIM:162900 |
Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome |
|
Rigidity, Spasticity, Hypertonia, Hemiplegia |
ORPHA:3175 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair, Ataxia, Intention tremor |
OMIM:190200 |
Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... |
ORPHA:98765 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Hypotonia, Status epilepticus, Generalized myoclonic seizure |
ORPHA:22 |
Neuhauser-Eichner-Opitz Syndrome |
|
Rigidity, Spasticity, Hypertonia, Ataxia |
ORPHA:2672 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Spastic Ataxia With Congenital Miosis |
|
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia |
ORPHA:1182 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
Dystonia 15, Myoclonic |
|
Dystonia, Writer's cramp, Myoclonus |
OMIM:607488 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
Seizure, Spasticity, Ataxia, Hypotonia |
OMIM:619228 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... |
OMIM:615625 |
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation |
OMIM:620199 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Hypotonia, Dysphagia... |
ORPHA:13 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... |
OMIM:602629 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,... |
OMIM:619913 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus |
ORPHA:36899 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkineti... |
OMIM:618425 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Generalized dystonia, Axial hypotonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opi... |
OMIM:619653 |
Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Gait ataxia |
ORPHA:211017 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus |
OMIM:208700 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Axial hypotonia, Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, F... |
OMIM:616921 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Limb ataxia, Gait ataxia |
ORPHA:284282 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure |
OMIM:611092 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Seizure, Ataxia, Spastic tetraparesis |
OMIM:619061 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Hypotonia, Generalized hypotonia, Bruxism, Spasticity |
OMIM:615493 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Ataxia, Upper... |
OMIM:205100 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal... |
OMIM:607483 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Gait ataxia |
OMIM:616410 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Spinocerebellar Ataxia Type 41 |
|
Gait ataxia |
ORPHA:458798 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation |
OMIM:300719 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Snijders Blok-Fisher Syndrome |
|
Facial hypotonia, Opisthotonus, Choreoathetosis, Seizure, Generalized hypotonia, Spasticity |
OMIM:618604 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus, Hearing impairment |
OMIM:159800 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearin... |
ORPHA:2589 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... |
OMIM:605021 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Somatic sensory dysfunction, Abnormal pyramidal sign, Impaired proprioception, Limb ataxia, Gait ... |
ORPHA:95434 |
Deafness, Congenital, With Total Albinism |
|
Albinism |
OMIM:220900 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
Myoclonic tremor |
OMIM:618075 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Hypotonia, Seizure, General... |
OMIM:256710 |
Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... |
OMIM:605407 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus |
OMIM:159900 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Seizure, Fair hair, Incoordination, Gait ataxia |
OMIM:618808 |
Spinocerebellar Ataxia 45 |
|
Limb ataxia, Gait ataxia |
OMIM:617769 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Axial hypotonia, Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious beh... |
OMIM:617270 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... |
OMIM:104290 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Abnormal cerebellum morphology, Myoclonic s... |
OMIM:162350 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... |
OMIM:614561 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Unsteady gait, Scissor... |
ORPHA:101010 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... |
OMIM:619742 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Limb at... |
OMIM:616230 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... |
OMIM:608105 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Hypot... |
OMIM:616139 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia... |
OMIM:607317 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus, Dystonia |
OMIM:125370 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Axial hypotonia, Tremor, Inability to walk, Babinsk... |
OMIM:617013 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Ataxia |
OMIM:136600 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Hypermelanotic macule, Hypotonia, Choreoathetosis, Status epilept... |
OMIM:609056 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Abnormal posturin... |
OMIM:619565 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... |
OMIM:613721 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Paresthesia, Myoclonus |
OMIM:102300 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Pontocerebellar Hypoplasia, Type 2B |
|
Axial hypotonia, Clonus, Tonic seizure, Chorea, Babinski sign, Hypotonia, Opisthotonus, Myoclonic... |
OMIM:612389 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Axial hypotonia, Ataxia, Dystonia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappro... |
OMIM:619150 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Hypotonia, Bruxism, Spasticity |
ORPHA:356996 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking |
ORPHA:85292 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls, Vitiligo |
OMIM:184850 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Clonus, Parkinsonism, Head titubation, I... |
ORPHA:300605 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... |
ORPHA:170 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... |
ORPHA:53583 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Abnormal pyramidal sign, Clumsiness, Seizur... |
ORPHA:79262 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Premature gray... |
ORPHA:33445 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Hypotonia, Truncal ataxia, Abnormal repetitive mannerisms, I... |
OMIM:608636 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Developmental And Epileptic Encephalopathy 37 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... |
OMIM:616981 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Opisthotonus, Seizure, Pigmentary retinopathy, Tip-toe g... |
ORPHA:216866 |
Developmental And Epileptic Encephalopathy 84 |
|
Epileptic spasm, Axial hypotonia, Chorea, Synophrys, Babinski sign, Opisthotonus, Seizure, Genera... |
OMIM:618792 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, Seizure, Mental deterioration |
OMIM:614706 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... |
ORPHA:79397 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor |
OMIM:618876 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Confusion, Ataxia, Tremor, Focal-onset seizur... |
OMIM:615362 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S... |
OMIM:617350 |
Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor |
ORPHA:86814 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Synophrys, Spastic paraplegia, Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Hyperto... |
OMIM:614969 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking |
OMIM:619191 |
Infantile Spasms Syndrome |
|
Myoclonus, Infantile spasms |
ORPHA:3451 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... |
OMIM:614018 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,... |
OMIM:614322 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Sensorineural hearing impairment, Seizure, Myoclonus, Generalized myoclonic seizure, Spas... |
OMIM:545000 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Seizure, Myoclonus |
OMIM:217200 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Hypotonia, Myo... |
OMIM:615006 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertonia, Axial hypotonia, Opisthotonus |
OMIM:616896 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Congenital Disorder Of Glycosylation, Type Ip |
|
Low anterior hairline, Hypotonia, Opisthotonus, Seizure, Neonatal hypotonia |
OMIM:613661 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Ataxia, Apraxia |
ORPHA:85338 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Axial hypotonia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizu... |
OMIM:619964 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Ataxia, Abnormality of hair texture, Sparse or absent eyelashes, Gait disturbance, Pili torti, Ap... |
ORPHA:2891 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Unsteady gait, Ataxia |
OMIM:615945 |
Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Ataxia, Pigmentary retinopathy, Gait disturbance, Cognitive impairment, Aplasia/Hypoplasia of the... |
ORPHA:1178 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myo... |
OMIM:606777 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Hyp... |
OMIM:612736 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... |
ORPHA:100988 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Short stature, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesi... |
OMIM:616291 |
Developmental And Epileptic Encephalopathy 101 |
|
Axial hypotonia, Hypotonia, Opisthotonus, Seizure, Myoclonus |
OMIM:619814 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... |
ORPHA:363710 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Hypoton... |
OMIM:618396 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei... |
ORPHA:98811 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Axial hypotonia, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, H... |
OMIM:619580 |
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ... |
OMIM:131960 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... |
ORPHA:599373 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Spinocerebellar Ataxia 13 |
|
Impaired distal vibration sensation, Abnormal pyramidal sign, Hypotonia, Limb ataxia, Gait ataxia... |
OMIM:605259 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... |
OMIM:607682 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Hypotonia, Opisthotonus, Seizure, Hyp... |
OMIM:619847 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Inability to walk, Hypotonia, Opisthotonus, Gait ataxia, Myoc... |
OMIM:103050 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Involuntary movements, Aggressive behavior, Hypotonia, Agitation, Abnormal repetitive mannerisms |
OMIM:617171 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Developmental And Epileptic Encephalopathy 16 |
|
Severe muscular hypotonia, Clonic seizure, Hypotonia, Hemiparesis, Status epilepticus, Myoclonus,... |
OMIM:615338 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormality of extrapyramidal motor ... |
OMIM:204300 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow |
ORPHA:2222 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia, Spasticity |
OMIM:615924 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Short stature, Babinski sign, Dysmetria, Clumsiness, Progre... |
ORPHA:284332 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Generalized hypotonia |
OMIM:606053 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho... |
OMIM:500003 |
Spinocerebellar Ataxia 11 |
|
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia |
OMIM:604432 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Generalized hypotonia, Truncal ataxia, Abnormal repetitive manne... |
OMIM:614063 |
Developmental And Epileptic Encephalopathy 69 |
|
Axial hypotonia, Spastic tetraplegia, Hyperkinetic movements, Status epilepticus, Myoclonus, Dyst... |
OMIM:618285 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Severe muscular hypotonia, Chorea, Hypotonia, Opisthotonus, Statu... |
OMIM:616672 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... |
ORPHA:89838 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Ataxia |
OMIM:617709 |
Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... |
ORPHA:69125 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... |
OMIM:618924 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:613608 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Hypotonia, Choreoathetosis, Seizure, Myo... |
OMIM:301020 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity, Hypotonia, Dy... |
OMIM:618090 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hypotonia, Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
ORPHA:139406 |
Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Bilateral tonic-clonic seizure, Hypotonia, Lower limb spasticity |
OMIM:619639 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Generalized myoclonic seizure, Abnormal pyramidal sign, Hemiparesis, Status epilepticus, Myoclonu... |
ORPHA:352596 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... |
OMIM:613855 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Hereditary Geniospasm |
|
Chin myoclonus, Intention tremor |
ORPHA:53372 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Hypotonia, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age... |
OMIM:616366 |
Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Seizure, Status epilepticus, Dystoni... |
OMIM:614820 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Hy... |
OMIM:616421 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Seizure, Ataxia, Myoclonus |
OMIM:600143 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Developmental And Epileptic Encephalopathy 40 |
|
Axial hypotonia, Spastic tetraparesis, Hypotonia, Choreoathetosis, Seizure, Myoclonus, Spasticity |
OMIM:617065 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Pontocerebellar Hypoplasia, Type 2E |
|
Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizure, Spastic t... |
OMIM:615851 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Hypotonia, Choreoatheto... |
ORPHA:726 |
Guanidinoacetate Methyltransferase Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Chorea, Hypotonia, Seizure, Athetosis, Focal impaired awa... |
ORPHA:382 |
Combined Saposin Deficiency |
|
Generalized clonic seizure, Babinski sign, Hypotonia, Hyperkinetic movements, Myoclonus, Fascicul... |
OMIM:611721 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypotonia, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... |
ORPHA:254343 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status ep... |
ORPHA:71277 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Axial hypotonia, Myoclonus, Dystonia |
OMIM:619651 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Axial hypotonia, Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py... |
OMIM:613135 |
Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Atypical absence sei... |
OMIM:617113 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seiz... |
OMIM:613722 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Multifocal seizures, Clonus, Involuntary movements, Infantile spasms, Cl... |
OMIM:620352 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Synophrys, Unsteady gait, Hypotonia, S... |
OMIM:620317 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure |
OMIM:617080 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Opisthotonus |
OMIM:250800 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dy... |
OMIM:617836 |
Glutaric Acidemia I |
|
Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Seizure, Generalized hypoto... |
OMIM:231670 |
Developmental And Epileptic Encephalopathy 23 |
|
Double eyebrow, Bilateral tonic-clonic seizure, Abnormal pinna morphology, Infantile spasms, Toni... |
OMIM:615859 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Hypotonia, M... |
OMIM:617389 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
High-frequency sensorineural hearing impairment, Bilateral tonic-clonic seizure with generalized ... |
ORPHA:2590 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hypotonia, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnorm... |
OMIM:617862 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Hypotonia, Aty... |
OMIM:616346 |
Griscelli Syndrome Type 1 |
|
Ataxia, Partial albinism, White hair, Premature graying of hair, Seizure, Hypertonia, Generalized... |
ORPHA:79476 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Seizure |
OMIM:615705 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Ty... |
ORPHA:725 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... |
ORPHA:79137 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal he... |
OMIM:619317 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, Generalized hypotonia, Abnormal repetitive... |
OMIM:239500 |
D-Glyceric Aciduria |
|
Axial hypotonia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Hypotonia, Opisthotonus, Se... |
OMIM:220120 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Gene... |
OMIM:617391 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... |
ORPHA:79399 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Focal... |
OMIM:617904 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Hypotonia, Myoclonic seizure, Cho... |
OMIM:618497 |
Smith-Magenis syndrome |
|
Hypotonia, Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Seizure, Myoclonus, Dystonia, Spasticity |
OMIM:617829 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Hypotonia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Hypotonia, Opisthotonus |
OMIM:271900 |
Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Opisthotonus, Seizure, Extrapyramidal dyskinesia, Dystonia |
OMIM:277470 |
Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
Lissencephaly Due To Lis1 Mutation |
|
Axial hypotonia, Generalized myoclonic seizure, Infantile spasms, Focal motor seizure, Tetraplegi... |
ORPHA:95232 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus, Dystonia |
OMIM:619065 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Seizure, Ataxia, Myoclonus |
OMIM:204500 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus |
OMIM:254800 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Cachexia, Tremor, Chore... |
OMIM:618093 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Infantile axial hypotonia,... |
ORPHA:206436 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Developmental And Epileptic Encephalopathy 109 |
|
Axial hypotonia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical... |
OMIM:620145 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Synophrys, Unsteady g... |
OMIM:616127 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Clonus, Synophrys, Myoclonic seizure, Opisthotonus, Intention tremor, Ataxia, Nail pits, Seizure,... |
OMIM:618076 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t... |
OMIM:300423 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead... |
OMIM:616409 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Intention tremor |
OMIM:617863 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Hypotonia,... |
OMIM:606703 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Hypotonia, Seizure, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoc... |
OMIM:256731 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Short stature, Trem... |
OMIM:610185 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Hypotonia, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Hypertoni... |
ORPHA:445038 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Axial hypotonia, Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyr... |
OMIM:605711 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls... |
OMIM:203740 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o... |
ORPHA:101070 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Short stature, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intent... |
OMIM:608029 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... |
OMIM:618218 |
Alg11-Cdg |
|
Axial hypotonia, Ataxia, Opisthotonus, Seizure, Hypertonia, Infantile muscular hypotonia, Limb hy... |
ORPHA:280071 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Epileptic spasm, Severe muscular hypotonia, Oculogyric crisis, Chorea, Hypotonia, Myoclonic seizu... |
OMIM:614254 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Hypotonia, Self-injurious behavior, Dystonia, Spasticit... |
OMIM:617820 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Congenital Disorder Of Glycosylation, Type In |
|
Ataxia, Sensorineural hearing impairment, Hypotonia, Seizure, Myoclonus, Spasticity |
OMIM:612015 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... |
ORPHA:36387 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus |
OMIM:300699 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Chiari Malformation Type Ii |
|
Ataxia, Hypotonia, Opisthotonus, Generalized hypotonia, Dysphagia |
OMIM:207950 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizur... |
ORPHA:248111 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin |
OMIM:610798 |
Progressive Myoclonic Epilepsy Type 3 |
|
Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive psych... |
ORPHA:263516 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
Early Myoclonic Encephalopathy |
|
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... |
ORPHA:1935 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia... |
OMIM:612016 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Ataxia, Sensorineural hearing impairment, Blue irides, Hypopigmen... |
OMIM:277580 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia, Generalized hypotonia |
OMIM:617830 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclo... |
OMIM:616271 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Myoclonus, Erratic myoclonus |
OMIM:619971 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... |
ORPHA:33069 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Seizure, B... |
OMIM:607136 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo... |
OMIM:617810 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Short attention span, Lower limb spasticity, Bilateral tonic-clonic seizure w... |
OMIM:619028 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... |
ORPHA:225154 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, Progressive cerebell... |
ORPHA:101112 |
Lesch-Nyhan Syndrome |
|
Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Abnormality of extrapyramidal motor function, ... |
OMIM:300322 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Poor motor coordination, Generalized myoclonic seizure, Photosens... |
ORPHA:86909 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, ... |
OMIM:614487 |
Landau-Kleffner Syndrome |
|
Speech apraxia, Short attention span, Bilateral tonic-clonic seizure with generalized onset, Bila... |
ORPHA:98818 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Short stature, Tremor, Inability to walk, A... |
OMIM:614831 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Gait disturba... |
OMIM:600795 |
Porphyria Cutanea Tarda, Type I |
|
Hyperpigmentation of the skin, Hypertrichosis |
OMIM:176090 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... |
ORPHA:2382 |
Benign Familial Neonatal Epilepsy |
|
Axial hypotonia, Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Fo... |
ORPHA:1949 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Seizure, Hypop... |
ORPHA:411515 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia |
ORPHA:306511 |
Gemignani Syndrome |
|
Hypopigmented skin patches |
ORPHA:2074 |
Epidermolysis Bullosa Acquisita |
|
Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin |
ORPHA:46487 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... |
OMIM:309548 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Hypotonia, Ab... |
OMIM:619470 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Dementia... |
OMIM:619806 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Neonatal hypotonia, Spasticity, Opisthotonus |
OMIM:610678 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Sensorineural hearing impairment, Hypotonia, Dysmetria, Seizure, Myoclonus |
OMIM:618251 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Hypotonia, Tetraplegia, Opisthotonus, Seizure, Hypertonia, Status epilepticus |
OMIM:619272 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Postural tremor, Akinesia, Parkinsonism, Rigidity... |
OMIM:619911 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... |
ORPHA:2251 |
Lopes-Maciel-Rodan Syndrome |
|
Axial hypotonia, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Ankle clonu... |
OMIM:617435 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio... |
ORPHA:100973 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... |
OMIM:618917 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Restlessness, Axial hypotonia, Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramida... |
OMIM:615159 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619157 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Myoclonus, Spastic paraparesis, Infantile mus... |
ORPHA:391417 |
Tetanus |
|
Tremor, Rigidity, Opisthotonus, Hypertonia, Dysphagia, Spasticity of pharyngeal muscles |
ORPHA:3299 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Axial hypotonia, Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand... |
OMIM:618760 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t... |
ORPHA:93952 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Babinski sign, Hypotonia, Dysmetria, Choreoathetosis, Seizure, Positive Romberg sign, Dys... |
OMIM:618088 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria... |
OMIM:213200 |
Juvenile Myoclonic Epilepsy |
|
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... |
ORPHA:307 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Generalized-onset seizure, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordin... |
ORPHA:79263 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Hypotonia, Seizure, Myoclonus, Generalized hypotonia, Spasticity |
OMIM:256730 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, A... |
ORPHA:208447 |
Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure, Dementia... |
OMIM:226750 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria, Spast... |
ORPHA:313772 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Ataxia, Short stature, Tremor, Premature graying of hair, Seizure, Gait... |
ORPHA:100 |
Hereditary Continuous Muscle Fiber Activity |
|
Seizure, Slurred speech, Ataxia, Spastic gait |
ORPHA:972 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetraparesis, Tremor, S... |
ORPHA:2203 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ... |
OMIM:617145 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Hypotonia, Gait ataxia, Choreoathetosi... |
OMIM:618877 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... |
ORPHA:79133 |
Uv-Sensitive Syndrome 1 |
|
Freckling, Pigmentation anomalies of sun-exposed skin |
OMIM:600630 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia |
OMIM:615282 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Hypotonia, Clumsiness, Blepharosp... |
OMIM:617282 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Slurred speech, Seizure, Myoclonus, Nonprogressive cerebellar a... |
ORPHA:3327 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Seizure, Hypertonia, Myoclonus, Axial hypotonia |
OMIM:610090 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... |
OMIM:117360 |
Developmental And Epileptic Encephalopathy 1 |
|
Dystonia, Axial hypotonia, Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset sei... |
OMIM:308350 |
Atypical Rett Syndrome |
|
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Abnormal muscle ... |
ORPHA:3095 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Ataxia, Hypotonia, Seizure, Myoclonus, Dystonia, Spasticity |
OMIM:620094 |
Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin |
OMIM:617825 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Protruding ear, Opisthotonus, Hypertonia, Frontal hirsutism, Macrotia |
ORPHA:3304 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept... |
OMIM:613970 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Babinski sign, Pigmentary retinopathy, Seizure, Myoclonus, Truncal ataxia, Neon... |
OMIM:252011 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Seizure, Hypotonia, Generalized hypotonia, Opisthotonus |
OMIM:210200 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Hypotonia, Dysmetria, Seizure, Myoclonus, Truncal ataxia |
OMIM:250620 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, O... |
OMIM:612716 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Hypot... |
OMIM:128100 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata... |
ORPHA:140927 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Spinocerebellar Ataxia 4 |
|
Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment |
OMIM:600223 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b... |
ORPHA:79402 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Prominent ear helix, Synophrys, Low anterior hairline, Generalized non-motor (a... |
ORPHA:411986 |
Pontocerebellar Hypoplasia Type 4 |
|
Seizure, Hypertonia, Myoclonus |
ORPHA:166063 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks |
OMIM:614323 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Tremor, Tongue fasciculations, Myoclonus, Generalized myoclonic seizur... |
OMIM:159950 |
Uv-Sensitive Syndrome 3 |
|
Freckling |
OMIM:614640 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Postlingual sensorineural hearing impairment, Abnormal posturing, Dystonia, Progressive s... |
OMIM:304700 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... |
OMIM:619862 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Hyper... |
OMIM:617493 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Low a... |
OMIM:619616 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Developmental And Epileptic Encephalopathy 107 |
|
Appendicular hypotonia, Axial hypotonia, Abnormal repetitive mannerisms, Hypotonia |
OMIM:620033 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Cerebral palsy, Hypotonia, Opisthotonus, Seizure, Generalized hypotonia |
OMIM:210210 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Short stature, Tre... |
ORPHA:1170 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
Alexander Disease |
|
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor |
OMIM:203450 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti |
ORPHA:1573 |
Pontocerebellar Hypoplasia, Type 1E |
|
Neonatal hypotonia, Myoclonus |
OMIM:619303 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cognitive impairment, Ocu... |
ORPHA:208513 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Hyp... |
OMIM:183090 |
Pontocerebellar Hypoplasia, Type 4 |
|
Seizure, Spasticity, Hypertonia, Myoclonus |
OMIM:225753 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... |
ORPHA:254881 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G... |
ORPHA:275864 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Phosphoserine Aminotransferase Deficiency |
|
Seizure, Hypertonia, Myoclonus |
OMIM:610992 |
Japanese Encephalitis |
|
Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor... |
ORPHA:79139 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Infantile axial hypotonia, Focal-onset seizure, Chorea, Babinski si... |
ORPHA:225147 |
Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hypotonia, Choreoathetosis... |
ORPHA:561854 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Sensorineural hearing impairment, Slurred speech, Seizure, Myoclonus |
OMIM:274240 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Generalized hypotonia, Dys... |
ORPHA:251347 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin |
ORPHA:90342 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus, Progressive s... |
ORPHA:401866 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypotonia, Myoclonic seizure, Hype... |
OMIM:617290 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... |
OMIM:618718 |
Narp Syndrome |
|
Ataxia, Retinal pigment epithelial mottling, Babinski sign, Seizure, Progressive gait ataxia, Myo... |
ORPHA:644 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Seizure, Status ep... |
ORPHA:363400 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Peho-Like Syndrome |
|
Bilateral tonic-clonic seizure, Hypotonia, Status epilepticus, Myoclonus, Neonatal hypotonia |
OMIM:617507 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Hypotonia, Seizu... |
OMIM:271980 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Self-injurious behav... |
OMIM:617695 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... |
OMIM:104100 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Generalized non-... |
ORPHA:485350 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Bilateral tonic-clonic seizure, Spastic tetraplegia, Hypotonia, Opisthotonus, Seizure, Hypertonia... |
OMIM:252160 |
Glycine Encephalopathy 1 |
|
Seizure, Generalized hypotonia, Myoclonus, Hypotonia |
OMIM:605899 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi... |
OMIM:204200 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Ge... |
OMIM:233910 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... |
OMIM:613670 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... |
ORPHA:352582 |
Hemimegalencephaly |
|
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, Status epileptic... |
ORPHA:99802 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Generalized hypopigmentation, Irregular hyperpigmentation, Abnormal eyebrow morphology, Generaliz... |
ORPHA:1816 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity |
OMIM:618201 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Hearing impairment, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, T... |
ORPHA:276198 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Generalized hypotonia, Abnormal repetitive mannerisms, Attention deficit hyperact... |
OMIM:618906 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Hypertonia, Myoclonus, Infa... |
ORPHA:289266 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Tremor, Paraplegia, Growth delay, Seizure, Hypertonia, Hemiplegia, Atte... |
ORPHA:79254 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Cln3 Disease |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Foc... |
ORPHA:228346 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment |
OMIM:604218 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Posteriorly rotated... |
OMIM:618598 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Hypotonia, Myoclonic seizure, Seizure, Myoclonus, Spasticity |
OMIM:618225 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
OMIM:612069 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Ataxia, Progressive neurologic deterioration, Inability to walk, Chorea... |
ORPHA:70472 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... |
ORPHA:157941 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Seizure, Low-set ears, Opisthotonus |
OMIM:272430 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... |
OMIM:612164 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Clumsiness, Seizure, G... |
ORPHA:98768 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... |
ORPHA:139431 |
Myoclonus, Intractable, Neonatal |
|
Clonic seizure, Chorea, Hypotonia, Athetosis, Myoclonus |
OMIM:617235 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hypertonia, Hyperkinetic mov... |
OMIM:619738 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Facial hypotonia, Babinski sign, Hypotonia, Spastic dysarthria, Difficulty walking... |
ORPHA:280763 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Myoclonus, Limb dystonia, Spas... |
ORPHA:508093 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Sensorineural hearing impairment, Oromotor apraxia, H... |
OMIM:617854 |
Developmental And Epileptic Encephalopathy 47 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, I... |
OMIM:617166 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Seizure, Macrotia, Hyperkinetic movements, Hypotonia |
ORPHA:397933 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Generalized-onset seizure, Severe muscular hypotonia, Febrile status epilepticus, Axial hypotonia... |
OMIM:612949 |
Riboflavin Transporter Deficiency |
|
Ataxia, Tremor, Hypotonia, Seizure, Progressive hearing impairment, Myoclonus, Iris hypopigmentation |
ORPHA:97229 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Alexander Disease Type I |
|
Ataxia, Abnormal pyramidal sign, Hypotonia, Spasticity, Seizure, Generalized hypotonia, Palatal t... |
ORPHA:363717 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Opisthotonus, Generalized tonic seizure |
OMIM:619685 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hypotonia, Seizure, Abnormality of extrapyramida... |
ORPHA:79279 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... |
ORPHA:158681 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Congenital Fibrinogen Deficiency |
|
Abnormality of the subungual region, Opisthotonus |
ORPHA:335 |
Schindler Disease, Type I |
|
Hypotonia, Seizure, Myoclonus, Generalized hypotonia, Spasticity |
OMIM:609241 |
Darier Disease |
|
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of... |
ORPHA:218 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Babinski sign, Hypotonia, Dysmetria, Seizure, Dysdiadochokinesis, Hypertonia, Myoclonus, ... |
OMIM:618356 |
Hyperekplexia 4 |
|
Seizure, Hypertonia, Myoclonus |
OMIM:618011 |
Alzheimer Disease 3 |
|
Dystonia, Spastic tetraparesis, Babinski sign, Seizure, Abnormality of extrapyramidal motor funct... |
OMIM:607822 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Hypotonia, Seizure, Athetosis, Myoclonus |
OMIM:618241 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Hypotonia, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Myoclonus,... |
OMIM:560000 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,... |
ORPHA:420492 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... |
OMIM:606159 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Myoclonus, Hearing impairment |
OMIM:619057 |
Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
Hemifacial Atrophy, Progressive |
|
Seizure, Patchy alopecia, Ataxia, Poliosis |
OMIM:141300 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation, Nail dysplasia |
OMIM:225050 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... |
ORPHA:98759 |
Spastic Paraplegia 23, Autosomal Recessive |
|
Hyperpigmentation in sun-exposed areas, Multiple lentigines, Premature graying of body hair, Viti... |
OMIM:270750 |
Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
Nmda Receptor Encephalitis |
|
Generalized-onset seizure, Oculogyric crisis, Involuntary movements, Rigidity, Focal-onset seizur... |
ORPHA:217253 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff... |
ORPHA:98772 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Stat... |
ORPHA:529665 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Hypotonia, Choreoathetosis, Seizure, Myoclonus, Generalized hypotonia, Dystonia, Episodic... |
OMIM:312170 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Developmental And Epileptic Encephalopathy 93 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetr... |
OMIM:618012 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Seizure, Babinski sign, Myoclonus, Apraxia |
OMIM:618193 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Dysesthesia, Gait ataxia, Abnormality of extrapyramidal motor function, Paresthesia, Limb myoclon... |
ORPHA:356 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Waddling gait, Short stature, Silver-gray hair, Spastic paraplegia, Seizure, Multiple lentigines,... |
ORPHA:101003 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair |
ORPHA:1810 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Distal sensory impairment, Hype... |
OMIM:616505 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Seizure, Status epi... |
ORPHA:442835 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... |
ORPHA:204 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, G... |
OMIM:618170 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus |
OMIM:607876 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Multifocal seizures, Axial hypotonia, Clonus, Focal motor status epilepticus, Rigidity, Focal-ons... |
OMIM:614498 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Infantile spasms, Focal-onset seizure, Tetraparesis, Myoclonus, Generalized hypotonia, Spasticity... |
OMIM:618972 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Spasticity, Abnormal repetitive mannerisms, Hypotonia, Difficulty walking |
OMIM:617393 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Short stature, Premature graying of hai... |
ORPHA:3322 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivity disorder |
OMIM:620065 |
Chudley-Mccullough Syndrome |
|
Seizure, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:604213 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Axial hypotonia, Bilateral tonic-clonic seizure, Facial-lingual fas... |
OMIM:617281 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Dysmetria, Seizure, Myoclonus, Low-set ears, Generalized hypertric... |
ORPHA:93399 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... |
OMIM:137440 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Hyperekplexia 1 |
|
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures |
OMIM:149400 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... |
OMIM:148820 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Abnormal muscle tone, Myoclonic... |
OMIM:252150 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset... |
ORPHA:98795 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Hypopigmented skin patches |
ORPHA:3239 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Generalized h... |
OMIM:618060 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Confusion, Tremor, Focal motor seizure, Dysme... |
OMIM:602481 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Spastic paraparesis, Palatal tremor, Truncal ataxia |
OMIM:113610 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Chorea, Hypotonia, Myoclonus, Attention deficit hyperactivity diso... |
OMIM:617600 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Seizure... |
ORPHA:399 |
D-Glyceric Aciduria |
|
Chorea, Seizure, Myoclonus, Infantile muscular hypotonia, Spasticity, Hearing impairment |
ORPHA:941 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... |
OMIM:616640 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Ataxia, Tremor, Seizure, Myoclonus, Infantile muscular hypotonia, Hypop... |
ORPHA:98794 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Gaucher Disease, Perinatal Lethal |
|
Neonatal death, Seizure, Akinesia, Opisthotonus |
OMIM:608013 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Axial hypotonia, Ataxia, Parkinsonism, Facial hypotonia, Dystonia, ... |
OMIM:300055 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Paroxysmal dystonia, Axial hypotonia, Weakness due to upper motor neuron d... |
ORPHA:466722 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Generalized-onset seizure, Axial hypotonia, Inability to walk, Hypotonia, Opisthotonus, Seizure, ... |
ORPHA:508533 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Gaucher Disease, Type Iii |
|
Generalized myoclonic seizure, Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Axial hypotonia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal m... |
OMIM:619338 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor |
ORPHA:363722 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... |
ORPHA:309155 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,... |
ORPHA:1807 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
9P13 Microdeletion Syndrome |
|
Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenails, Abnormality of cartilage of extern... |
ORPHA:324313 |
Nipah Virus Disease |
|
Tremor, Seizure, Myoclonus |
ORPHA:99825 |
Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Progressive spasticity, Dysphagia, Neonatal hypotonia, Abnormal r... |
DECIPHER:45 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Glucocorticoid Deficiency 2 |
|
Hyperpigmentation of the skin |
OMIM:607398 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Posttransplant Acute Limbic Encephalitis |
|
Seizure, Ataxia, Myoclonus, Dystonia |
ORPHA:163921 |
Phenylketonuria |
|
Generalized hypopigmentation, Fair hair, Blue irides |
OMIM:261600 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Seizure, Gait imbalance, Hypopigment... |
ORPHA:411511 |
Early-Onset Lafora Body Disease |
|
Seizure, Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... |
ORPHA:69087 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Microcephaly-Capillary Malformation Syndrome |
|
Infantile spasms, Spastic tetraparesis, Abnormal hair whorl, Hypotonia, Seizure, Myoclonus, Small... |
OMIM:614261 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, White eyelashes, White eyebrow, Ataxia, Sensori... |
OMIM:609136 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic para... |
ORPHA:329308 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Axial hypotonia, Oculogyric crisis, Babinski sign, Lim... |
OMIM:608643 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks |
ORPHA:2898 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Neu-Laxova Syndrome |
|
Abnormal eyelash morphology, Macrotia, Abnormal hair morphology, Opisthotonus |
ORPHA:2671 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Short stature, Tremor, Overweight, Seizure, Hyperkinetic movement... |
ORPHA:457240 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Ataxia, Gait disturbance, Inappropriate laughter, Generalized hypo... |
OMIM:614104 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Focal tonic... |
ORPHA:168491 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... |
OMIM:300607 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Seizure, Axial hypotonia, Myoclonus |
OMIM:300673 |
Oromandibular Dystonia |
|
Limb dystonia, Torticollis, Generalized dystonia, Bruxism, Blepharospasm, Hyperkinetic movements,... |
ORPHA:93958 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Repetitive compulsive behavior, Hypertonia, Compulsive behaviors, ... |
ORPHA:352490 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Spastic tetraparesis, Seizure, Hypertonia, Myoclonus, Infantile axial hypotonia |
ORPHA:284417 |
Nystagmus, Hereditary Vertical |
|
Ataxia |
OMIM:164150 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Generalized... |
OMIM:610042 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Myoclonus, Myoclonic seizure |
OMIM:618240 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Infantile Sialic Acid Storage Disease |
|
Fair hair, Hypopigmentation of the skin |
OMIM:269920 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetra... |
OMIM:616267 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Epileptic spasm, Axial hypotonia, Seizure, Myoclonus, Dystonia, Hearing ... |
OMIM:617669 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Ataxia, Abnormality of skin pigmentation, Nail dystrophy, Cerebellar hypoplasia, Sparse... |
OMIM:616353 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Vitiligo |
OMIM:221350 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Unilateral Polymicrogyria |
|
Axial hypotonia, Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegi... |
ORPHA:268943 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Axial hypotonia, Bilateral tonic-clonic seizure, Facial hypotonia, Uplifted e... |
ORPHA:364028 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Clumsiness, Poor fine moto... |
ORPHA:79264 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Dystonia... |
ORPHA:171695 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria |
OMIM:619780 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Keppen-Lubinsky Syndrome |
|
Spastic tetraparesis, Opisthotonus, Seizure, Hypertonia, Febrile seizure (within the age range of... |
OMIM:614098 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Abnormal pinna morphology, Severe muscular hypotonia, Seizure, Hypertonia, Myoclonus, Spasticity,... |
ORPHA:3078 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... |
ORPHA:459056 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Seizure, Myoclonus, Apraxia, Spasticity |
OMIM:221770 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Hypotonia, Hemiparesis, Self-injurious ... |
OMIM:618004 |
Christianson Syndrome |
|
Dystonia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive man... |
ORPHA:85278 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Abeta Amyloidosis, Iowa Type |
|
Myoclonus |
ORPHA:324708 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa... |
OMIM:602400 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Neonatal hypotonia, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Hypotonia |
OMIM:613886 |
Sea-Blue Histiocytosis |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:158029 |
Neuraminidase Deficiency |
|
Sensorineural hearing impairment, Slurred speech, Hypotonia, Dysmetria, Seizure, Myoclonus, Gener... |
OMIM:256550 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Axial hypotonia, Ataxia, Facial hypotonia, Rigidity, I... |
OMIM:300260 |
Pyridoxal Phosphate-Responsive Seizures |
|
Axial hypotonia, Seizure, Hypertonia, Status epilepticus, Myoclonus |
ORPHA:79096 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Abnormality of the nail |
ORPHA:254478 |
Microcephaly, Amish Type |
|
Axial hypotonia, Myoclonus, Limb hypertonia |
OMIM:607196 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Tremor, Laryngeal dystonia, Typical absen... |
ORPHA:845 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Seizure, Growth delay, Status epilep... |
OMIM:615673 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Hypotonia, Attention deficit hyperactivity di... |
OMIM:301029 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Facial hypotonia, Hypotonia, Gait ataxia, Difficulty walking, Dystonia, Spastic... |
OMIM:617807 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia |
ORPHA:1020 |
Angelman Syndrome |
|
Ataxia, Atonic seizure, Infantile spasms, Tremor, Seizure, Status epilepticus, Myoclonus, Atypica... |
ORPHA:72 |
Hijazi-Reis Syndrome |
|
Lower limb spasticity, Hypotonia, Ankle clonus, Gait disturbance, Abnormal repetitive mannerisms |
OMIM:301094 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... |
ORPHA:626 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... |
OMIM:619121 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin |
OMIM:309400 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp |
OMIM:618373 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Maternal Uniparental Disomy Of Chromosome X |
|
Hypopigmentation of the skin, Low posterior hairline |
ORPHA:261519 |
Classic Mycosis Fungoides |
|
Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail |
ORPHA:2584 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Hypotonia, Self-injurious behavior, Abnormal repetitive manner... |
ORPHA:228402 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Confusion, Bilateral tonic-clonic seizure with focal onset, Gener... |
ORPHA:501 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, Short stature, White hair, Ocular albinism, Seizure, Hypertonia, Aplasia/Hypoplasia of th... |
ORPHA:2720 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Hyperactivity, Ataxia, Axial hypotonia, Unsteady gait, Pica, Tongue thrusting, ... |
OMIM:617865 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P... |
ORPHA:97355 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Ataxia, Short stature, Abnormal eyelash morphology, Silver-gray hair... |
ORPHA:381 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Generalized hypotonia, ... |
OMIM:614299 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements, Tinnitus |
ORPHA:209970 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Epileptic spasm, Myoclonus, Generalized hypotonia |
OMIM:619060 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Thick eyebrow, Axial hypotonia, Ataxia, Posteriorly rotated ears, Generali... |
OMIM:619229 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Severe mu... |
ORPHA:314655 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair |
OMIM:229200 |
Hermansky-Pudlak Syndrome 11 |
|
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair |
OMIM:619172 |
Congenital Sialidosis Type 2 |
|
Ataxia, Hypotonia, Dysmetria, Seizure, Myoclonus, Low-set ears, Generalized hypertrichosis, Spast... |
ORPHA:93400 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Ataxia |
ORPHA:3350 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Neonatal hypotonia, Seizure, Myoclonus, Hypotonia |
OMIM:616158 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Sensorineural hearing impairment, Slurred speech, Hypotonia, Seizure, Myoclonus |
ORPHA:812 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation |
ORPHA:745 |
Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:525 |
Subependymal Nodular Heterotopia |
|
Focal-onset seizure, Seizure, Focal aware seizure, Limb myoclonus, Acroparesthesia |
ORPHA:101030 |
Hydranencephaly |
|
Seizure, Spastic diplegia, Infantile sensorineural hearing impairment, Opisthotonus |
ORPHA:2177 |
Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Hypotonia... |
OMIM:613839 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Axial hypotonia, Aplasia of the semicircular canal, Sensorineural... |
OMIM:611584 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Hypotonia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper... |
ORPHA:530983 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Epileptic spasm, Axial hypotonia, Vocal cord paralysis, Seizure, Myoclonus, Dystonia, Spasticity |
ORPHA:500144 |
Al-Raqad Syndrome |
|
Hypopigmentation of the skin |
OMIM:616459 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Axial hypotonia, Infantile spasms, Chorea, Spastic tetraplegia, Gai... |
OMIM:618321 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hyperconvex nail, Opisthotonus, Seizure, Hypoplastic nipples, Low-set ears, Hypertrichosis |
OMIM:269150 |
Keppen-Lubinsky Syndrome |
|
Seizure, Hypertonia, Spastic tetraparesis, Opisthotonus |
ORPHA:435628 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Abnormal hair morphology, Slurred speech, Choreoathetosis, Seizure, Progressive c... |
OMIM:208900 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Atrichia, Nail dystrophy, Hy... |
ORPHA:1867 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation, Nail dystrophy |
OMIM:613988 |
Chronic Actinic Dermatitis |
|
Progressive hyperpigmentation, Hypopigmented skin patches |
ORPHA:330064 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Inability to walk, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:613155 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Attached earlobe, Posteriorly rotated ears, Synophrys, Seizure, Hyperkinetic move... |
ORPHA:289522 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... |
OMIM:620141 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Hypotonia, Compulsive behaviors, S... |
OMIM:618430 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Orofaciodigital Syndrome Type 3 |
|
Focal seizure with eyelid myoclonia, Abnormality of hair texture, Myoclonus, Low-set ears, Oculom... |
ORPHA:2752 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Hypopigmented skin patches |
ORPHA:220402 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Gait ataxia, Seizure, Positive Romb... |
ORPHA:70595 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Localized Epidermolysis Bullosa Simplex |
|
Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79400 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Writer's cramp, Paresthesia, Irregular hyperpigmentatio... |
ORPHA:428 |
Peho Syndrome |
|
Seizure, Severe muscular hypotonia, Myoclonus, Generalized hypotonia |
OMIM:260565 |
Cog8-Cdg |
|
Seizure, Ataxia, Myoclonus, Infantile muscular hypotonia |
ORPHA:95428 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Hypotonia, Self-injurious behavior, Hypertonia, Gait disturbance, Co... |
OMIM:300986 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus, Dystonia |
OMIM:168601 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Hypotonia, Seizure, Myoclonus, Generalized hypotonia |
OMIM:614462 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Hypotonia, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behavior... |
OMIM:617044 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Sensorineural hearing impairment, Hypotonia, Seizure, Myoclonus, Dystonia |
OMIM:620167 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Limb dystonia, Infantile axial hypotonia, Tonic seizure, Focal hemiclonic seiz... |
OMIM:616973 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, Ge... |
OMIM:618342 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Sensorineural hearing impairment, Hypotonia, Seizure, Status epilepticus, Myoclon... |
OMIM:607426 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... |
ORPHA:33543 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ataxia, Impaired distal proprioception, Retinal pigment epithelial mottling, Sensorineural hearin... |
OMIM:607459 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypopigmentation of the skin |
OMIM:615980 |
Developmental And Epileptic Encephalopathy 72 |
|
Axial hypotonia, Hyperkinetic movements, Infantile spasms |
OMIM:618374 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Hypopigmented skin patches |
ORPHA:1825 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Rett Syndrome |
|
Dystonia, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty ... |
ORPHA:778 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Neonatal hypotonia, Abnormal repetitive mannerisms, Tetraparesis |
ORPHA:85277 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
Phakomatosis Pigmentovascularis |
|
Generalized hyperpigmentation, Hypopigmented skin patches |
ORPHA:2875 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Hypertonia, Abnormal repetitive mannerisms, Axial hypotonia |
OMIM:619877 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Hoffmann sign, Dysmetria, Ankle clonus, Seiz... |
ORPHA:139396 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Self hugging, Head-banging, Generalized hypotonia, Onycho... |
OMIM:182290 |
Whipple Disease |
|
Generalized hyperpigmentation, Ataxia, Abnormal pyramidal sign, Seizure, Myoclonus |
ORPHA:3452 |
Leukodystrophy, Hypomyelinating, 10 |
|
Axial hypotonia, Babinski sign, Prominent eyelashes, Seizure, Hyperkinetic movements, Low-set ear... |
OMIM:616420 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Blue irides, Limb tremor, Obesity, Clumsiness, Seizure, Progressive gai... |
OMIM:105830 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... |
OMIM:618825 |
Developmental And Epileptic Encephalopathy 100 |
|
Axial hypotonia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset sei... |
OMIM:619777 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Babinski sign, Hypotonia, Gait ataxia, Seizure, Hyperkinetic movements, Bilateral sensori... |
OMIM:620089 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Axial hypotonia, Involuntary movements, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
ORPHA:572013 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Highly arched eyebrow, Supernumerary nipple, Thickened he... |
ORPHA:247262 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Broad-based gait, Axial hypotonia, Dystonia, Aggressive behavior, Hypotonia, Hype... |
OMIM:300352 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... |
OMIM:254780 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Tongue thrusting, Bruxism, Athetosis, Generalized hypotonia, Apraxia, Neonatal ... |
OMIM:613454 |
Hermansky-Pudlak Syndrome 6 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism |
OMIM:614075 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microtia, Ocular albinism, Myoclonus, Cupped ear |
ORPHA:1352 |
Dystonia-Aphonia Syndrome |
|
Oromandibular dystonia, Seizure, Generalized dystonia, Myoclonus |
ORPHA:412217 |
Orofaciodigital Syndrome Iii |
|
Hyperconvex nail, Myoclonus, Low-set ears |
OMIM:258850 |
Early Infantile Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset... |
ORPHA:1934 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Ab... |
OMIM:600430 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ataxia, Short stature, Ocular albinism, Abnormal pyramidal sign, Spasti... |
ORPHA:2719 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Seizure, Spasticity, Myoclonus, Hypotonia |
OMIM:246450 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ataxia, Hypotonia, Seizure, Myoclonus, Dystonia |
OMIM:619167 |
Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus |
ORPHA:43116 |
Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Hypotonia, Seizure, Myoclonus, ... |
OMIM:300672 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Dowling-Degos Disease |
|
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... |
ORPHA:79145 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Sensorineural hearing impairment, Hypotonia, Seizure, Hyperkinetic movements, Spasticity |
OMIM:300957 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... |
OMIM:193500 |
Galloway-Mowat Syndrome 10 |
|
Hypotonia, Myoclonus |
OMIM:619609 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia |
OMIM:615637 |
Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches, Alopecia |
OMIM:300337 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Bulimia, Hypo... |
OMIM:300912 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Severe muscular hypotonia, Seizure, Tongue fasciculations, Generalized hypotonia, Myoclonus, Hear... |
OMIM:614922 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Abnormal... |
OMIM:620292 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,... |
OMIM:615960 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Paraplegia, Agitation, Infantile muscular hypotonia, Abnormal repetitive mannerisms |
ORPHA:927 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov... |
ORPHA:163934 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Sensorineural hearing impairment, ... |
ORPHA:163746 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Myoclonus |
ORPHA:168593 |
Epidermodysplasia Verruciformis |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:302 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Poor coordination, Hypotonia, Poor fine motor coordination, A... |
OMIM:620242 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... |
ORPHA:64280 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Incoordination, Facial hypotonia, Impaired pain sensation, Hypotonia, Gait ataxia, Abnormal repet... |
OMIM:616579 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Generalized-onset seizure, Infantile spasms, Sensorineural hearing impairment, Hypotonia, Seizure... |
OMIM:612073 |
Immunodeficiency 23 |
|
Somatic sensory dysfunction, Ataxia, Sensorineural hearing impairment, Hypotonia, Myoclonus, Gene... |
OMIM:615816 |
Fatal Familial Insomnia |
|
Ataxia, Myoclonus |
OMIM:600072 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Ocular albinism, Seizure, Giant melan... |
OMIM:214500 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Abnormal repetitive mannerisms, Hypotonia |
OMIM:613443 |
Melas |
|
Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Sen... |
ORPHA:550 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Axial hypotonia, Ataxia, Postural tremor, Babinski sign, Hypotonia, Seizure, Lower limb hypertoni... |
OMIM:301072 |
Pseudohypoparathyroidism Type 2 |
|
Laryngeal dystonia, Hypocalcemic seizures, Paresthesia, Myoclonic spasms |
ORPHA:94090 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Truncal ataxia, Seizure, Hyperkinetic movements, Infantile muscular hypotonia |
ORPHA:369847 |
Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Somatic sensor... |
ORPHA:167 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Hypotonia, Athetosis, Dysphagia, Abnormal repet... |
OMIM:619435 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Synophrys, Hypot... |
ORPHA:447997 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Generalize... |
OMIM:618914 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Hypotonia, Head tremor |
OMIM:619428 |
Brain-Lung-Thyroid Syndrome |
|
Incoordination, Ataxia, Involuntary movements, Dystonia, Chorea, Sensorineural hearing impairment... |
ORPHA:209905 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Spastic diplegia, Hypotonia, Choreoathetosis, Seizure, H... |
ORPHA:391428 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Hypoplastic nipples... |
OMIM:103285 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Ataxia, Photosensitive tonic-clonic seizure, Hypotonia, Seizure, Hyperkinetic movements, Generali... |
OMIM:300243 |
Crome Syndrome |
|
Seizure, Short stature, Cerebellar dysplasia |
OMIM:218900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Generalized hypotonia, Spasticity, Abnormal repetitive mannerisms, Se... |
OMIM:300486 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Seizure, Hypertonia, Hypotonia, Hyperkinetic movements |
OMIM:236270 |
X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Thickened helices, Asymmetry of the ears, Sparse eyebrow, Synophrys, Patch... |
ORPHA:3063 |
Lhermitte-Duclos Disease |
|
Seizure, Trichilemmoma, Enlarged cerebellum, Ataxia |
ORPHA:65285 |
Developmental And Epileptic Encephalopathy 89 |
|
Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure with generalized onset, Highly a... |
OMIM:619124 |
Optic Atrophy 11 |
|
Ataxia, Gait apraxia, Hypotonia, Dysmetria, Seizure, Athetosis, Hyperkinetic movements, Macrotia,... |
OMIM:617302 |
Alg3-Cdg |
|
Hypopigmentation of the skin |
ORPHA:79321 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
48,Xxyy Syndrome |
|
Ataxia, Tremor, Hypotonia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:10 |
Xeroderma Pigmentosum, Complementation Group C |
|
Freckling, Hypopigmentation of the skin |
OMIM:278720 |
Autoimmune Hypoparathyroidism |
|
Laryngeal dystonia, Myoclonic spasms, Paresthesia, Hypocalcemic seizures |
ORPHA:36913 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Low posterior hairline, Nail dystrophy, ... |
OMIM:300860 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb... |
ORPHA:646 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Axial hypotonia, Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Hypotonia, Self-injurious behavior, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Generalized-onset seizure, Postural tremor, Action tremor, Gait ataxia, Myoclonus, Intention tremor |
OMIM:254900 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Hypotonia, Myoclonic seizure, Seizure, Myoclonus, Hearing impairment |
OMIM:614946 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Hypopigmentation of the skin |
OMIM:236200 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Generalized myoclonic seizure, Facial hypotonia, Infantile spasms, Action tremor, Chorea, General... |
ORPHA:404454 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign... |
ORPHA:306674 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp... |
ORPHA:98784 |
Joubert Syndrome 6 |
|
Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia, Hypotonia |
OMIM:610688 |
Vici Syndrome |
|
Hypopigmentation of hair, Albinism, Sensorineural hearing impairment, Ocular albinism, Hypotonia,... |
OMIM:242840 |
4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia |
ORPHA:238750 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Seizure, Ataxia, Enlarged cerebellum, Thick eyebrow |
OMIM:620047 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... |
ORPHA:79430 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... |
ORPHA:90354 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Abnormal repetitive mannerisms, Generalized hypotonia |
ORPHA:529965 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Dystonia, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkine... |
ORPHA:522077 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Hypotonia |
OMIM:614857 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Hypotonia, Self-injurious behavior, Compulsive b... |
OMIM:617061 |
Hermansky-Pudlak Syndrome 8 |
|
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali... |
OMIM:614077 |
Niemann-Pick Disease, Type C2 |
|
Dystonia, Ataxia, Hypotonia, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms |
OMIM:607625 |
Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Broad-based gait, Unsteady gait, Hypotonia, Attention deficit hyperactivity disor... |
OMIM:618205 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dystonia, Ataxia, Tetraplegia, Fasciculations, Progressive spasticity, Dysphagia, Cataplexy, Spas... |
ORPHA:496641 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Hypotonia, Gait imbalance, Attention deficit hy... |
OMIM:619312 |
Intellectual Disability And Myopathy Syndrome |
|
Cafe-au-lait spot, Spotty hypopigmentation |
OMIM:619719 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Ataxia, Bilateral tonic-clonic seizure, Hypotonia, Seizure, Hypertonia, Myoclonus, Generalized hy... |
OMIM:618426 |
Acute Radiation Syndrome |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:454831 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ... |
ORPHA:79396 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:3453 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin |
ORPHA:1493 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Reticulated skin pigmentation, Premature graying of hair, White forelock, Nail dystrophy, Nail dy... |
OMIM:613989 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Cerebellar vermis hypoplasia, Infantile spasms, Focal-onset seizure, Parap... |
ORPHA:98889 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Aggressive behavior, Hypertonia, Difficulty walking, Neonatal hypotonia, Abnormal ... |
OMIM:123450 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Facial hypotonia, Involuntary movements, Chorea, Hypotonia, Dysmetria, Myoclo... |
OMIM:615273 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting, Generalized hypotonia, Abnormal repetitive manne... |
ORPHA:3306 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms, Hypotonia |
OMIM:618067 |
Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Generalized hypotonia, Tics, Attention deficit hyperactivity diso... |
OMIM:617808 |
Porphyria Variegata |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis |
ORPHA:79473 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Neonatal hypotonia, Seizure, Pain insensitivity, Myoclonus |
ORPHA:251004 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ... |
OMIM:607485 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus, Generalized hypotonia |
OMIM:619055 |
Crouzon Syndrome |
|
Hypopigmented skin patches, Melanocytic nevus |
ORPHA:207 |
Epidermal Nevus Syndrome |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:35125 |
Slc35A2-Cdg |
|
Hypopigmentation of the skin |
ORPHA:356961 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Hypopigmentation of the skin |
OMIM:163200 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Inability to walk, Hypotonia, Generalized hypotonia, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617802 |
Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Hypopigmented skin patches, Generalized hirsutism, Nail dystrophy... |
ORPHA:678 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Hypotonia, Clumsiness, Attention deficit hyperactivity disorder, Compulsive behaviors, Ge... |
OMIM:615656 |
Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Synophrys, Generalized... |
OMIM:619297 |
Pilarowski-Bjornsson Syndrome |
|
Speech apraxia, Abnormal repetitive mannerisms, Hypotonia |
OMIM:617682 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Hypotonia |
ORPHA:228384 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Generalized hypotonia, Oral-pharyngeal dysphagia |
OMIM:610883 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Myoclonus |
OMIM:256700 |
Porphyria Cutanea Tarda |
|
Hypopigmentation of the skin, Hirsutism, Hyperpigmentation of the skin, Hypertrichosis |
ORPHA:101330 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Synophrys, Hypopigmented skin patches, Aplastic/hypoplastic toenail |
ORPHA:1295 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Hypotonia, Self-injurious behavior, Abnormal temper tantrums,... |
ORPHA:449291 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Axial hypotonia, Babinski sign, Hypotonia, Hypertonia, Inappropriate laughter, Neonatal hypotonia... |
OMIM:615802 |
Hydroxykynureninuria |
|
Hypertonia, Abnormal repetitive mannerisms |
ORPHA:79155 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Hypopigmentation of the skin, Hyperpigmentation of t... |
OMIM:263700 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Infantile axial hypotonia, Inability to walk, Spastic tetraplegia, S... |
ORPHA:300570 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Self-injurious behavior, Limb dystonia, Neonatal hypotonia, Spasticity, Abnorm... |
ORPHA:457351 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Abnormal muscle tone, Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:478029 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Failure to thrive in infancy, Impaired pain sensation, P... |
OMIM:176270 |
Leigh Syndrome |
|
Alopecia, Ataxia, Involuntary movements, Infantile spasms, Frontal hirsutism, Chorea, Sensorineur... |
ORPHA:506 |
Farber Disease |
|
Infantile spasms, Paraparesis, Seizure, Myoclonus, Infantile muscular hypotonia, Spasticity |
ORPHA:333 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Spastic hemiparesis, Hypotonia, Seizure, Myoclonus, Spasticity |
ORPHA:20 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmentation, Small nail, Nail... |
ORPHA:2909 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Choreoathetosis, Attention deficit hyperactivity disorder, Dystonia, Abnormal rep... |
ORPHA:261197 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Ataxia, Paralysis, Hypotonia, Hypertonia, Status epilepticus, Myocl... |
OMIM:203700 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... |
ORPHA:1969 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Generalized hypopigmentation, Iris transillumination defect |
OMIM:617306 |
Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1784 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Severe temper tantrums, Hypotonia, Compulsive behaviors, Abnormal repetitive manne... |
OMIM:618027 |
Hartnup Disease |
|
Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2116 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter |
OMIM:618347 |
Mismatch Repair Cancer Syndrome 1 |
|
Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin |
OMIM:276300 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Dystonia, Neonatal hypotonia, Acti... |
ORPHA:66634 |
Curry-Jones Syndrome |
|
Hypopigmented skin patches, Generalized hirsutism |
ORPHA:1553 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Sensorineural hearing impairment, Choreoathetosis, Seizure, Hypertonia, Hyperkinetic movements, M... |
ORPHA:17 |
Opsoclonus-Myoclonus Syndrome |
|
Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d... |
ORPHA:476126 |
Pgm3-Cdg |
|
Mild neurosensory hearing impairment, Ataxia, Sensorineural hearing impairment, Seizure, Myoclonu... |
ORPHA:443811 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Cafe-au-lait spot, Hypopigmented skin patches |
ORPHA:457485 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Hypopigmentation of the skin |
OMIM:620237 |
Joubert Syndrome 1 |
|
Hemifacial spasm, Ataxia, Highly arched eyebrow, Hypotonia, Low-set ears, Generalized hypotonia, ... |
OMIM:213300 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Axial hypotonia, Pica, Hypotonia, Obsessive-compulsive trait, Abnormal repetitive ... |
OMIM:617796 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia |
ORPHA:397612 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Generalized hypotonia, Neon... |
ORPHA:457279 |
Bloom Syndrome |
|
Cafe-au-lait spot, Hypopigmentation of the skin, Spotty hypopigmentation, Hypertrichosis |
OMIM:210900 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Thin nail, Vocal ... |
OMIM:617799 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivi... |
OMIM:618354 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Smith-Magenis Syndrome |
|
Impaired pain sensation, Hypotonia, Self-injurious behavior, Gait disturbance, Attention deficit ... |
ORPHA:819 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair |
OMIM:608233 |
Cystinosis |
|
Abnormal repetitive mannerisms, Polydipsia, Abnormal pyramidal sign, Gait disturbance |
ORPHA:213 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Abnormal repetitive mannerisms, Hypotonia |
OMIM:617751 |
3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Hypotonia, Attention deficit hyperactivity disorder |
ORPHA:435638 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ... |
OMIM:606232 |
Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia, Compulsive behaviors |
OMIM:613174 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Somatic sensory dysfunction, Dystonia, Ataxia, Parkinsonism, Abnormal auditory ev... |
ORPHA:909 |
Mosaic Trisomy 8 |
|
Hypopigmentation of the skin, Hypopigmented skin patches |
ORPHA:96061 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Short stature, Impaired temperature sensation, Increased body weight, S... |
ORPHA:398069 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Woolly hair, Fine hair, Sparse hair, Generalized hypopigmentation, Cafe... |
OMIM:222470 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Hypotonia, Seizure, Athetosis, Hyperkinetic mov... |
OMIM:615356 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Ruvalcaba Syndrome |
|
Hypopigmented skin patches, Generalized hirsutism |
ORPHA:3121 |
X-Linked Agammaglobulinemia |
|
Alopecia, Hypopigmented skin patches |
ORPHA:47 |
Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ... |
ORPHA:221008 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... |
ORPHA:177907 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... |
ORPHA:84064 |
Pemphigus Erythematosus |
|
Hypopigmented skin patches |
ORPHA:79480 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Unsteady gait, Hypertonia, Generalized hypotonia, Abnormal repetitive manner... |
OMIM:212066 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivity disorder, Overfriendli... |
OMIM:619293 |
Incontinentia Pigmenti |
|
Alopecia, Hypoplastic fingernail, Abnormal fingernail morphology, Supernumerary nipple, Abnormal ... |
ORPHA:464 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Short stature, Small for gestational age, Impaired temperature sensatio... |
ORPHA:98754 |
Sialuria |
|
Seizure, Hyperkinetic movements, Generalized hypotonia, Low-set ears |
ORPHA:3166 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:1647 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Hypotonia, Compulsive b... |
ORPHA:1727 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Speech apraxia, Pain insensitivity, Broad-based gait, Ataxia, Axial hypotonia, Dysmetria, Gait at... |
OMIM:617330 |
Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ... |
ORPHA:221016 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Hypotonia |
ORPHA:2479 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Facial hypotonia, Aggressive behavior, Hypotonia, Self-injurious be... |
OMIM:616364 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Short stature, Small for gestational age, Impaired temperature sensatio... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Short stature, Small for gestational age, Impaired temperature sensatio... |
ORPHA:177904 |
Lathosterolosis |
|
Seizure, Myoclonus, Hypotonia, Hearing impairment |
ORPHA:46059 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Short stature, Small for gestational age, Impaired temperature sensatio... |
ORPHA:177901 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Intention tremor,... |
OMIM:619475 |
Ethylene Glycol Poisoning |
|
Seizure, Slurred speech, Ataxia, Myoclonus |
ORPHA:31826 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal repetitive mannerisms, Infantile muscular hypotonia |
ORPHA:500159 |
Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Hypotonia, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity, Mac... |
ORPHA:284339 |
Pseudohypoparathyroidism Type 1B |
|
Laryngeal dystonia, Myoclonic spasms, Paresthesia, Hypocalcemic seizures |
ORPHA:94089 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches |
ORPHA:2067 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn... |
ORPHA:1775 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Impaired temperature sensation, Seizure, Abdominal obesi... |
ORPHA:739 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Hyperpigmentation o... |
ORPHA:90289 |
Bloom Syndrome |
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Sparse eyelashes, Paronychia, Patchy alopecia, Cafe-au-lait spot, Hypopigmentation of the skin |
ORPHA:125 |
Hepatoerythropoietic Porphyria |
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Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski... |
ORPHA:95159 |
Transketolase Deficiency |
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Hypotonia, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behavior... |
ORPHA:488618 |
Severe Oculo-Renal-Cerebellar Syndrome |
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Abnormality of retinal pigmentation, Hypopigmented skin patches |
ORPHA:2715 |
Scorpion Envenomation |
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Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Paresthesia, Myoclonus |
ORPHA:466677 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Axial hypotonia, Tetraplegia, Seizure, Myoclonus, Dystonia |
OMIM:618278 |
Listeriosis |
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Somatic sensory dysfunction, Ataxia, Tremor, Hemiparesis, Seizure, Myoclonus, Hearing impairment |
ORPHA:533 |
Galloway-Mowat Syndrome 1 |
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Hypopigmentation of the skin, Small nail |
OMIM:251300 |
Kleefstra Syndrome 1 |
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Aggressive behavior, Hypotonia, Generalized hypotonia, Compulsive behaviors, Abnormal repetitive ... |
OMIM:610253 |
Eec Syndrome |
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Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrophy, Generalized... |
ORPHA:1896 |
Mucolipidosis Ii Alpha/Beta |
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Sparse eyebrow, Brittle hair, Hypopigmentation of the skin, Sparse hair |
OMIM:252500 |
Bainbridge-Ropers Syndrome |
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Inability to walk, Hypotonia, Self-injurious behavior, Hypertonia, Generalized hypotonia, Recurre... |
OMIM:615485 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... |
OMIM:604292 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... |
OMIM:619103 |
Harrod Syndrome |
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Hypopigmented skin patches |
ORPHA:2115 |
Pitt-Hopkins Syndrome |
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Incoordination, Hypotonia, Gait ataxia, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:610954 |
Menkes Disease |
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Hypopigmentation of hair, Chorea, Hypotonia, Seizure, Hypertonia, Sparse hair, Woolly hair, Spast... |
ORPHA:565 |
Pseudohypoparathyroidism Type 1A |
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Involuntary movements, Sensorineural hearing impairment, Choreoathetosis, Paresthesia, Myoclonic ... |
ORPHA:79443 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Broad-based gait, Hyperactivity, Ataxia, Axial hypotonia, Aggressive behavior, Unsteady gait, Poo... |
OMIM:614756 |
Diffuse Cutaneous Mastocytosis |
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Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79456 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Multiple cafe-au-lait spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Fine ... |
ORPHA:2637 |
White-Sutton Syndrome |
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Hyperactivity, Incoordination, Facial hypotonia, Aggressive behavior, Self-injurious behavior, Co... |
ORPHA:468678 |
Short Stature With Microcephaly And Distinctive Facies |
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Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair, Spotty hypopigmentation |
OMIM:615789 |
Degcags Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... |
OMIM:619488 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Abnormal repetitive mannerisms, Hypotonia |
ORPHA:261144 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... |
OMIM:129900 |
Rauch-Steindl Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Hypotonia, Aggressive behavior |
OMIM:619695 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Alopecia, Cafe-au-lait spot, Fair hair, Hypopigmentation of the skin, Vitiligo |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Alopecia, Cafe-au-lait spot, Fair hair, Hypopigmentation of the skin, Vitiligo |
ORPHA:363958 |
Duane Retraction Syndrome |
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Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ... |
ORPHA:233 |
Pseudohypoparathyroidism Type 1C |
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Laryngeal dystonia, Myoclonic spasms, Paresthesia, Hypocalcemic seizures |
ORPHA:79444 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Synophrys, Hypopigmentation of the skin |
OMIM:301066 |
Tick-Borne Encephalitis |
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Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Incoordination, Paralysis... |
ORPHA:297 |
2Q37 Microdeletion Syndrome |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Hypotonia, Compulsive b... |
ORPHA:1001 |
Focal Dermal Hypoplasia |
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Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Reticular hyperpigment... |
OMIM:305600 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:73224 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Epileptic spasm, Exaggerated startle response, Involuntary movements, Seizure, Myoclonus, Dystoni... |
ORPHA:438213 |
7Q11.23 Microduplication Syndrome |
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Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... |
ORPHA:96121 |
Choreoacanthocytosis |
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Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... |
ORPHA:2388 |
Chromomycosis |
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Hypopigmented skin patches |
ORPHA:182 |
Doors Syndrome |
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Abnormal fingernail morphology, Bilateral tonic-clonic seizure, Low anterior hairline, Focal impa... |
ORPHA:79500 |
Poliomyelitis |
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Paralysis, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations |
ORPHA:2912 |
Congenital Erythropoietic Porphyria |
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Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski... |
ORPHA:79277 |
Pediatric-Onset Graves Disease |
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Tremor, Hyperkinetic movements |
ORPHA:525731 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Impaired pain sensation, Attention deficit hyperactivity disorder, Neonatal hypotonia, Abnormal r... |
OMIM:619005 |
Kleefstra Syndrome |
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Aggressive behavior, Hypotonia, Self-injurious behavior, Abnormal repetitive mannerisms, Self-mut... |
ORPHA:261494 |
Van Esch-O'Driscoll Syndrome |
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Impulsivity, Unilateral vocal cord paralysis, Hypotonia, Attention deficit hyperactivity disorder... |
OMIM:301030 |
Cystinosis, Nephropathic |
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Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... |
OMIM:219800 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Abnormal pyramidal sign, Self-injurious behavior, Hypertonia, Hyperkinetic movements, Infantile a... |
ORPHA:468631 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Hypotonia, Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequ... |
OMIM:619575 |
Hereditary Acrokeratotic Poikiloderma |
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Hypopigmented skin patches, Nail dystrophy, Irregular hyperpigmentation, Dystrophic fingernails, ... |
ORPHA:2907 |
Smith-Lemli-Opitz Syndrome |
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Hypopigmentation of hair, Short stature, Rhizomelia, Abnormal eyelash morphology, Growth delay, S... |
ORPHA:818 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Spasticity, Abnormal repetitive mannerisms, Hypotonia, Infantile muscular hypotonia |
OMIM:301040 |
Xeroderma Pigmentosum |
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Alopecia, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic nevus, Freckling |
ORPHA:910 |
Familial Tumoral Calcinosis |
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Hypopigmented skin patches |
ORPHA:53715 |
Eosinophilic Granulomatosis With Polyangiitis |
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Hypopigmented skin patches |
ORPHA:183 |
Meningioma |
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Hemifacial spasm, Abnormal central motor function, Ataxia, Focal-onset seizure, Hemiparesis, Seiz... |
ORPHA:2495 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Pain insensitivity, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia,... |
OMIM:620330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Severe muscular hypotonia, Seizure, Myoclonus, Generalized hypotonia, Spasticity |
OMIM:253280 |
Mosaic Trisomy 20 |
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Hypopigmented streaks, Depigmentation/hyperpigmentation of skin |
ORPHA:1724 |
Tetragametic Chimerism |
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Hypopigmented skin patches |
ORPHA:199310 |
Neurofibromatosis Type 1 |
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Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypop... |
ORPHA:636 |
X-Linked Intellectual Disability, Nascimento Type |
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Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigmentation, Low po... |
ORPHA:163956 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Broad-based gait, Repetitive compulsive behavior, Hypotonia, Gait ataxia, Stereotypical body rock... |
ORPHA:513456 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h... |
OMIM:210720 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Hypopigmented skin patches on arms, Hypermelanotic macule, Vitiligo |
OMIM:607944 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Hyperactivity, Hypotonia, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums... |
OMIM:619512 |
Wiedemann-Steiner Syndrome |
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Hyperactivity, Aggressive behavior, Hypotonia, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:319182 |
Oculocerebrorenal Syndrome Of Lowe |
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Generalized hypopigmentation, Sparse scalp hair, Fine hair |
ORPHA:534 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Axial hypotonia, Abnormal repetitive mannerisms, Hypotonia, Difficulty walking |
OMIM:618653 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Trichiasis, Nail dystrophy, Anonychia, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:95455 |
Systemic Sclerosis |
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Alopecia, Irregular hyperpigmentation, Spotty hypopigmentation, Nail bed telangiectasia |
ORPHA:90291 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Generalized hypopigmentation, Alopecia |
OMIM:619321 |
Kindler Syndrome |
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Ridged nail, Spotty hyperpigmentation, Spotty hypopigmentation |
OMIM:173650 |
Arboleda-Tham Syndrome |
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Axial hypotonia, Dystonia, Hypotonia, Lower limb hypertonia, Gait imbalance, Generalized hypotoni... |
OMIM:616268 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Hypotonia, Compulsive behaviors, Dysphagi... |
OMIM:615873 |
Pitt-Hopkins Syndrome |
|
Hypopigmented skin patches, Supernumerary nipple |
ORPHA:2896 |
Atypical Werner Syndrome |
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Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Abnormal hair morphology, ... |
ORPHA:79474 |
Sarcoidosis |
|
Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:797 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormality of retinal pigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abn... |
ORPHA:2556 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Hyperactivity, Poor coordination, Spastic diplegia, Generalized hypotonia, Abnormal repetitive ma... |
OMIM:309590 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Abnormal repetitive mannerisms, Gait disturbance, Attention deficit hyperactivity disorder |
ORPHA:464311 |
Fanconi Anemia |
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Multiple cafe-au-lait spots, Abnormality of skin pigmentation, Irregular hyperpigmentation, Hypop... |
ORPHA:84 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Gait disturbance |
ORPHA:464306 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Axial hypotonia, Spastic tetraparesis, Hypertonia, Generalized hypotonia, Abnormal repetitive man... |
OMIM:301044 |
Cowden Syndrome |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:201 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms, Hypotonia |
OMIM:616682 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... |
OMIM:601803 |
Ogden Syndrome |
|
Torticollis, Hypotonia, Hypertonia, Dysphagia, Abnormal repetitive mannerisms |
OMIM:300855 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma... |
ORPHA:580 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Self-... |
ORPHA:353281 |
1P36 Deletion Syndrome |
|
Hemiplegia/hemiparesis, Polyphagia, Hypotonia, Self-injurious behavior, Gait disturbance, Dysphag... |
ORPHA:1606 |
Sotos Syndrome |
|
Sparse anterior scalp hair, Small nail, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:821 |
22Q11.2 Deletion Syndrome |
|
Hypopigmented skin patches |
ORPHA:567 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508498 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Axial hypotonia, Tremor, Hypotonia, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:612474 |
Primrose Syndrome |
|
Restlessness, Ataxia, Aggressive behavior, Hypotonia, Self-injurious behavior, Tics, Attention de... |
OMIM:259050 |
Norrie Disease |
|
Clonus, Hypotonia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder,... |
ORPHA:649 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Self-... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Self-... |
ORPHA:353277 |
Mend Syndrome |
|
Spotty hypopigmentation |
ORPHA:401973 |
Mend Syndrome |
|
Spotty hypopigmentation |
OMIM:300960 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Hypotonia, Attention deficit hyperactivity disorder, Dysphagia, Abn... |
OMIM:619522 |
Lowe Oculocerebrorenal Syndrome |
|
Neonatal hypotonia, Abnormal repetitive mannerisms, Hypotonia, Aggressive behavior |
OMIM:309000 |
Coffin-Siris Syndrome 12 |
|
Abnormal repetitive mannerisms, Hypotonia, Oral motor hypotonia |
OMIM:619325 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Impaired pain sensation, Inability to walk, Hypotonia, Dysphagia, Bruxi... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Impaired pain sensation, Inability to walk, Dysphagia, Poor fine motor coordina... |
ORPHA:261537 |
Wolf-Hirschhorn Syndrome |
|
Abnormal repetitive mannerisms, Generalized hypotonia |
OMIM:194190 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Impaired pain sensation, Inability to walk, Dysphagia, Poor fine motor coordina... |
ORPHA:261552 |