Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... |
OMIM:607631 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... |
OMIM:600669 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... |
OMIM:254770 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... |
OMIM:607682 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:611634 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
OMIM:607681 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:607628 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:615369 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Multifocal epileptiform discharges, Myoclonic seizure, Atypical absence seizure, Myoclonic absenc... |
OMIM:618596 |
Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Myocloni... |
OMIM:615744 |
Myoclonic Epilepsy, Progressive |
|
Generalized myoclonic seizure |
OMIM:310370 |
Myoclonic Epilepsy, Hartung Type |
|
Generalized myoclonic seizure |
OMIM:159600 |
Mental Retardation, X-Linked 89 |
|
Generalized myoclonic seizure |
OMIM:300848 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Seizure, Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 ye... |
OMIM:617924 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Bilateral tonic... |
OMIM:609446 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Generalized myoclonic seizure, Atypical absence seizure, Hypsarrhythmia |
OMIM:617771 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, EEG with spike-wave complexes, Chin myoclonus, Focal seizure with... |
ORPHA:139426 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:616172 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... |
OMIM:616461 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... |
OMIM:300088 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... |
OMIM:604403 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Jeavons Syndrome |
|
EEG with hyperventilation-induced epileptiform discharges, Febrile seizure (within the age range ... |
ORPHA:139431 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... |
OMIM:614417 |
Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... |
OMIM:616056 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:604233 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, EEG... |
OMIM:617831 |
Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... |
ORPHA:306 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:1941 |
Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Status ep... |
ORPHA:307 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Continuous Spikes And Waves During Sleep |
|
Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Focal clonic s... |
ORPHA:725 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300923 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Interictal epileptiform ... |
OMIM:254800 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:613060 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:613863 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure |
OMIM:611364 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:614280 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, EEG with photoparoxysmal respons... |
OMIM:601068 |
Epilepsy, Familial Temporal Lobe, 7 |
|
Focal sensory seizure with auditory features |
OMIM:616436 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... |
OMIM:618482 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure |
OMIM:611630 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg... |
OMIM:619130 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... |
OMIM:618357 |
Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea, Abnormal head movements |
OMIM:616939 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Ringed Hair Disease |
|
Fine hair, Abnormal hair pattern |
ORPHA:169 |
Epilepsy, Familial Temporal Lobe, 4 |
|
Focal aware seizure, Focal sensory seizure with visual features, Focal impaired awareness seizure |
OMIM:611631 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... |
OMIM:618587 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
EEG with spike-wave complexes (>3.5 Hz), Generalized-onset seizure, Generalized non-motor (absenc... |
ORPHA:79137 |
Pseudopili Annulati |
|
Abnormality of the scalp hair, Abnormality of hair texture |
OMIM:613241 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, EEG with focal sharp slow waves, Atonic seizure, EEG a... |
ORPHA:2382 |
Glanzmann Thrombasthenia 2 |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... |
OMIM:619267 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Developmental And Epileptic Encephalopathy 67 |
|
Hypsarrhythmia, Seizure, EEG abnormality, Generalized myoclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
ORPHA:101039 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Bleeding Disorder, Platelet-Type, 24 |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, P... |
OMIM:619271 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... |
OMIM:619000 |
Developmental And Epileptic Encephalopathy 18 |
|
EEG abnormality, Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset ... |
OMIM:615476 |
Benign Occipital Epilepsy |
|
EEG with occipital focal spike waves, Focal impaired awareness seizure |
ORPHA:25968 |
Deafness, Congenital, And Familial Myoclonic Epilepsy |
|
Generalized myoclonic seizure, Myoclonus, Hearing impairment |
OMIM:220300 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Bilateral sensorineural hearing impairment, Reduced s... |
OMIM:611102 |
Spastic Paraparesis And Deafness |
|
Hypogonadism, Hearing impairment, Spastic paraparesis, Tremor |
OMIM:312910 |
Landau-Kleffner Syndrome |
|
EEG with temporal focal spikes, Non-convulsive status epilepticus without coma, Bilateral tonic-c... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... |
OMIM:618873 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
EEG abnormality, Generalized non-motor (absence) seizure |
OMIM:300801 |
Carnosinase Deficiency |
|
Generalized myoclonic seizure, EEG abnormality |
ORPHA:1361 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Progressive sensorineural hearing impairment, Prolonged bleeding time, Giant platelets, Abnormal ... |
OMIM:600208 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Seizures, Benign Familial Infantile, 2 |
|
Generalized-onset seizure, Focal-onset seizure |
OMIM:605751 |
Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... |
OMIM:173590 |
Autosomal Dominant Epilepsy With Auditory Features |
|
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... |
ORPHA:101046 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:86909 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
EEG with generalized epileptiform discharges, Generalized-onset seizure, Generalized non-motor (a... |
ORPHA:35878 |
+173470 integrin, beta-3 |
|
Menorrhagia, Intracranial hemorrhage, Post-transfusion thrombocytopenia, Gingival bleeding, Epist... |
OMIM:173470 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Interictal epileptiform activity, Myoclonic seizure, Seizure, Foc... |
OMIM:619157 |
Seizures, Benign Familial Infantile, 1 |
|
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:601764 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Glanzmann Thrombasthenia 1 |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Dec... |
OMIM:273800 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... |
OMIM:615400 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Menorrhagia, Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Sensorineural he... |
OMIM:155100 |
Epilepsy, Progressive Myoclonic, 6 |
|
Seizure, Myoclonus, Generalized non-motor (absence) seizure, Atonic seizure |
OMIM:614018 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Generalized-onset seizure, EEG abnormality, Focal-onset seizure |
ORPHA:86814 |
Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhe... |
OMIM:209050 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... |
OMIM:615127 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Anemia, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, P... |
OMIM:187800 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Jerky head movements, Torticollis, Stereotypy, Action tremor |
ORPHA:98807 |
Bernard-Soulier Syndrome |
|
Menorrhagia, Gingival bleeding, Thrombocytopenia, Epistaxis, Impaired ristocetin-induced platelet... |
OMIM:231200 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
ORPHA:36387 |
Pyridoxine-Dependent Epilepsy |
|
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Early onset absence... |
ORPHA:3006 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Fechtner syndrome |
|
Menorrhagia, Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage... |
OMIM:153640 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Developmental And Epileptic Encephalopathy 52 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Seizure,... |
OMIM:617350 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Seizure, Generalized non-motor (absence) seizure, Atonic seizure |
OMIM:610293 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment, Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonic absence... |
OMIM:617836 |
Bleeding Disorder, Platelet-Type, 8 |
|
Ecchymosis, Epistaxis, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Prolonged bl... |
OMIM:609821 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage... |
OMIM:187950 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Babinski sign, Jerky head movements, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spa... |
ORPHA:251282 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Normal interictal EEG, Focal impaired awareness ... |
OMIM:607745 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
Glanzmann Thrombasthenia |
|
Ecchymosis, Macroscopic hematuria, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistax... |
ORPHA:849 |
Developmental And Epileptic Encephalopathy 6B |
|
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic... |
OMIM:619317 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets |
OMIM:608404 |
Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:613608 |
Developmental And Epileptic Encephalopathy 12 |
|
Generalized-onset seizure, Hypsarrhythmia, Focal-onset seizure |
OMIM:613722 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Myoclonus, Seizure, Eyelid... |
ORPHA:2590 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder |
OMIM:617787 |
Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Waardenburg Syndrome, Type 2E |
|
Blue irides, Hypopigmented skin patches, Morphological abnormality of the vestibule of the inner ... |
OMIM:611584 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:615697 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Von Willebrand Disease, Type 3 |
|
Menorrhagia, Thrombocytopenia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal ble... |
OMIM:277480 |
Myh9-Related Disease |
|
Menorrhagia, Increased mean platelet volume, Neutrophil inclusion bodies, Nephritis, Spontaneous,... |
ORPHA:182050 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Bleeding Disorder, Platelet-Type, 22 |
|
Subcutaneous hemorrhage, Impaired platelet aggregation, Excessive bleeding from superficial cuts |
OMIM:618462 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Dravet Syndrome |
|
Generalized clonic seizure, Focal hemiclonic seizure, Photosensitive myoclonic seizure, Febrile s... |
ORPHA:33069 |
Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with centrotemporal focal spik... |
ORPHA:1945 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Hermansky-Pudlak Syndrome 6 |
|
Ocular albinism, Epistaxis, Albinism, Macular hypoplasia, Abnormal platelet granules, Prolonged b... |
OMIM:614075 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Normal interictal EEG, Generalized-onset seizure, Focal-onset seizure |
OMIM:602066 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Bleeding Disorder, Platelet-Type, 18 |
|
Epistaxis, Impaired platelet aggregation, Prolonged bleeding time |
OMIM:615888 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Jerky head movements, Rigidity, Frequent falls, Limb aprax... |
ORPHA:240103 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Hearing impairment |
ORPHA:217012 |
Deafness, X-Linked 6 |
|
Cochlear malformation, Hearing impairment |
OMIM:300914 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Epistaxis, Acute myeloid leukemia, Prolonged bleeding time, Abnor... |
OMIM:601399 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Hearing impairmen... |
OMIM:165300 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Neurofibromatosis-Noonan Syndrome |
|
Short stature, Low-set, posteriorly rotated ears, Prolonged bleeding time, Multiple cafe-au-lait ... |
ORPHA:638 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Thrombo... |
ORPHA:231393 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... |
OMIM:619338 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Optic atrophy, Bilateral tonic-clonic seizure, Myoclonic seizure, EEG abnormality, Atonic seizure... |
OMIM:617810 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Gray Platelet Syndrome |
|
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, E... |
OMIM:139090 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Sebastian syndrome |
|
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleeding time, Gian... |
OMIM:605249 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Familial Focal Epilepsy With Variable Foci |
|
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Infan... |
ORPHA:98820 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Low-set ears, Cafe-au-lait spot |
ORPHA:436151 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Attention deficit hyperactivity disorder |
OMIM:204750 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Uncombable Hair Syndrome 3 |
|
Curly hair, Pili canaliculi, Uncombable hair |
OMIM:617252 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... |
ORPHA:320401 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, EEG abnormality, Generalized myoclon... |
OMIM:271980 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Abnormal head movements |
ORPHA:71518 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... |
OMIM:608096 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:613265 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia |
OMIM:617018 |
Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Ocular albinism, Hypoplasia of t... |
OMIM:619172 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Ecchymosis, Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising sus... |
OMIM:614009 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Abnormality of the optic nerve, Intracranial hemorrhage, Acute leukemia, Chronic ot... |
ORPHA:3226 |
Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity, Intrauterine growth retardation, Short stature |
OMIM:608747 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... |
ORPHA:90646 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Infantile spasms, Myoclonus, Focal impaired awareness seizure, Prominent ear helix... |
ORPHA:411986 |
Benign Familial Neonatal Epilepsy |
|
Increased theta frequency activity in EEG, Limb myoclonus, Focal clonic seizure, Focal tonic seiz... |
ORPHA:1949 |
Slc35A1-Cdg |
|
Neutropenia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged... |
ORPHA:238459 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609253 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Ataxia, Hearing impairment |
OMIM:271250 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism |
OMIM:614307 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py... |
OMIM:614561 |
Polyendocrine-Polyneuropathy Syndrome |
|
Progressive hearing impairment, Dystonia, Short stature, Hypogonadism, Ataxia, Postnatal growth r... |
OMIM:616113 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Continuous spike and waves during slow sleep, Focal impaired awar... |
OMIM:245570 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Optic atrophy, Hearing impairment |
OMIM:258700 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Myoclonic-Astatic Epilepsy |
|
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... |
ORPHA:1942 |
Huntington Disease-Like 1 |
|
Clumsiness, Involuntary movements, Jerky head movements, Frequent falls, Dysmetria, Chorea, Abnor... |
ORPHA:157941 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Focal emotional seizure with laughing, F... |
ORPHA:178469 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Hypogonadism, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia |
OMIM:615768 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Tremor, Ataxia, Spasticity, Apraxia, Premature ovarian insufficiency |
OMIM:615889 |
Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... |
ORPHA:101070 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Von Willebrand Disease, Type 1 |
|
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, P... |
OMIM:193400 |
Hermansky-Pudlak Syndrome 7 |
|
Ocular albinism, Epistaxis, Albinism, Abnormal bleeding, Impaired platelet aggregation, Bruising ... |
OMIM:614076 |
Pendred Syndrome |
|
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... |
ORPHA:705 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Hermansky-Pudlak Syndrome 5 |
|
Menorrhagia, Hypoplasia of the fovea, Ocular albinism, Epistaxis, Albinism, Prolonged bleeding ti... |
OMIM:614074 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Myoclonus, Tremor |
OMIM:611092 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Epistaxis, Splenomegaly, Prolonged bleeding time, Reticulocytosis, Thrombocytopenia, H... |
OMIM:314050 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Tremor |
OMIM:300660 |
Hermansky-Pudlak Syndrome 2 |
|
Neutropenia, Ocular albinism, Aberrant melanosome maturation, Reduced natural killer cell activit... |
OMIM:608233 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-onset seizure... |
OMIM:619616 |
Bilateral Generalized Polymicrogyria |
|
Typical absence seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal emotional seizur... |
ORPHA:208447 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, EEG abnormality, Retinopathy, Pigmentary retinopathy, Generalized myoclonic seizure |
OMIM:610951 |
Hermansky-Pudlak Syndrome 8 |
|
Menorrhagia, Optic disc pallor, Gingival bleeding, Ocular albinism, Hypoplasia of the fovea, Epis... |
OMIM:614077 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus |
OMIM:616921 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... |
OMIM:619279 |
Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... |
OMIM:618889 |
Bernard-Soulier Syndrome |
|
Macroscopic hematuria, Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein... |
ORPHA:274 |
Episodic Ataxia Type 4 |
|
Ataxia, Abnormal head movements, Incoordination, Frequent falls |
ORPHA:79136 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time |
OMIM:188025 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:614418 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Ataxia, Iris hypopigmentation, Vestibular hypofunction, Abnorma... |
ORPHA:231183 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Spasticity |
ORPHA:99852 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Menorrhagia, Impaired platelet aggregation |
OMIM:617443 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Ataxia, Iris hypopigmentation, Vestibular hypofunction, Abnorma... |
ORPHA:231169 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Optic atrophy, Poor coordination, Dysmetria, Spastic ataxia, Tremor, S... |
OMIM:270500 |
Cataract-Ataxia-Deafness Syndrome |
|
Adult onset sensorineural hearing impairment, Decreased nerve conduction velocity, Tremor, Ataxia... |
ORPHA:1368 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Quebec Platelet Disorder |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro... |
OMIM:601709 |
Waardenburg Syndrome, Type 2A |
|
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... |
OMIM:193510 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Seizure, Generalized non-motor (absence) seizure |
ORPHA:98811 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... |
OMIM:260300 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:607624 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... |
ORPHA:101110 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... |
OMIM:601369 |
Monomelic Amyotrophy |
|
Tremor, Abnormality of peripheral nerve conduction, Fasciculations |
ORPHA:65684 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
Nephronophthisis |
|
Renal insufficiency, Abnormality of retinal pigmentation, Anemia |
ORPHA:655 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Aganglionic megacolon, Abnormal eyebrow morphology, Sensorineural hea... |
ORPHA:2885 |
Bleeding Disorder, Platelet-Type, 12 |
|
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation, Bru... |
OMIM:605735 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... |
OMIM:607876 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Resting tremor, Bradykinesia, Orthostatic hypotension |
OMIM:616710 |
Myoclonic Epilepsy, Familial Infantile |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:605021 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Frequent falls |
OMIM:615945 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Distal Monosomy 10Q |
|
Cochlear malformation, Morphological abnormality of the vestibule of the inner ear, Short stature... |
ORPHA:96148 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Typical absence seizure, Bilateral tonic-clonic seizure, EEG with series of focal spikes, Focal t... |
ORPHA:168491 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Petechiae, Reduced natural killer cell act... |
OMIM:619374 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Seizure, Sensorineural hearing impairment, EEG... |
OMIM:617519 |
Huntington Disease-Like 3 |
|
Chorea, Abnormal head movements, Abnormality of extrapyramidal motor function, Extrapyramidal dys... |
ORPHA:157946 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonus, Focal impaired ... |
ORPHA:485350 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Generalized non-motor (absence) seizure |
OMIM:618242 |
Bleeding Disorder, Platelet-Type, 11 |
|
Ecchymosis, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility |
OMIM:614201 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Eyelid myoclonus, Pancytopenia, Thrombocytopenia, Generalized non-motor (ab... |
OMIM:613839 |
Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Aganglionic megacolon, Hearing impairment, Sensorineural hearing impa... |
ORPHA:895 |
Woolly Hair, Autosomal Dominant |
|
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair |
OMIM:194300 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Reticulocytosis, Chroni... |
OMIM:210250 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Optic atrophy, Abnormality of somatosensory evoked potentials, Oromandibular dystonia, ... |
ORPHA:52368 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:607317 |
Bleeding Disorder, Platelet-Type, 17 |
|
Ecchymosis, Petechiae, Epistaxis, Absence of alpha granules, Gastrointestinal hemorrhage, Prolong... |
OMIM:187900 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Giant somatosensory evoked potentials, Myoclonus, Focal impaired ... |
ORPHA:501 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Tonic seizure, Infantile spasms, EEG with occipital epileptiform ... |
OMIM:619428 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment |
OMIM:172500 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... |
ORPHA:59181 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Bleeding Disorder, Platelet-Type, 14 |
|
Ecchymosis, Bruising susceptibility, Epistaxis, Prolonged bleeding time |
OMIM:614158 |
Spinocerebellar Ataxia Type 37 |
|
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Sensorineural hearing impairment, Dysdiadoc... |
ORPHA:363710 |
Fragile X Syndrome |
|
Hyperactivity, Abnormal head movements, Macrotia |
OMIM:300624 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
Wolfram Syndrome 2 |
|
Optic atrophy, Optic neuropathy, Decreased circulating antibody level, Impaired collagen-induced ... |
OMIM:604928 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Infantile spasms, Abnormal earlobe mo... |
ORPHA:79329 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... |
ORPHA:79262 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Short stature, Anteverted ears, Macrotia, Hyperactivity, Synophrys |
OMIM:615541 |
Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Granula... |
ORPHA:75376 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... |
ORPHA:2585 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia |
ORPHA:276183 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... |
ORPHA:75377 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Myoclonus, Prolonged somatosensory evoked potentials |
OMIM:608105 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Abnormality of the pinna, Ataxia, Hyperactivity, Frontal upsweep of hair |
OMIM:300983 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormal pyramidal sign, Clonus, Dysmetria, Orthostatic hypo... |
ORPHA:99027 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Oculomotor apraxia, Ataxia, Jerky head movements, Choreoathetosis |
OMIM:245348 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiparesis, Ataxia, Hemiplegia |
OMIM:141500 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... |
ORPHA:98762 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Seizure, Macrotia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300558 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Progressive extrapyramidal movement disorder, Chorea, Abnormal head movements, Abnorma... |
ORPHA:382 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Anemia, Hearing impairment, Seizure, Thrombocytopenia |
ORPHA:858 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... |
OMIM:619274 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia |
OMIM:615362 |
Lissencephaly Due To Lis1 Mutation |
|
Infantile spasms, Focal impaired awareness seizure, Focal motor seizure, Hypsarrhythmia, Seizure,... |
ORPHA:95232 |
Albinism-Deafness Syndrome |
|
Piebaldism, Partial albinism, Patchy hypo- and hyperpigmentation, Albinism |
OMIM:300700 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time, Facial palsy |
ORPHA:1114 |
Ogden Syndrome |
|
Fine hair, Torticollis, Abnormal head movements, Shuffling gait, Macrotia, Postnatal growth retar... |
ORPHA:276432 |
Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Blue irides, Aganglionic megacolon, White eyelashes, Sensorineural he... |
OMIM:277580 |
Factor V Deficiency |
|
Menorrhagia, Prolonged prothrombin time, Epistaxis, Prolonged bleeding time, Abnormal bleeding, B... |
OMIM:227400 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... |
OMIM:128230 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Babinski sign, Optic atrophy, Decreased sensory nerve ... |
OMIM:609260 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
Essential Thrombocythemia |
|
Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Splenomegaly, Prolonge... |
ORPHA:3318 |
Fraxe Intellectual Disability |
|
Hyperactivity, Prominent ear helix, Intrauterine growth retardation, Short stature |
ORPHA:100973 |
Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
Multiple System Atrophy |
|
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Fr... |
ORPHA:102 |
Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Progressive gait ataxia, Progressive cerebellar ataxia, Truncal ataxia, ... |
ORPHA:247815 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:168100 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Abnormal nerve conduction velocity, Hearing impairment |
ORPHA:101075 |
Glutathione Synthetase Deficiency |
|
Neutropenia, Seizure, Pigmentary retinopathy, Hemolytic anemia, Increased level of L-pyroglutamic... |
OMIM:266130 |
Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Behr Syndrome |
|
Progressive spasticity, Babinski sign, Optic atrophy, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Rod-cone dystrophy, Seizure, Bilateral sensorineural hearing impairment, Pigmentar... |
OMIM:264470 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Anteverted ears, Macrotia, Eating-induced seizure, Generalized-onset seizure, Myoclo... |
ORPHA:544254 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Seizure, Bilateral tonic-... |
ORPHA:98795 |
Lichtenstein-Knorr Syndrome |
|
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism |
OMIM:615528 |
New-Onset Refractory Status Epilepticus |
|
EEG with temporal epileptiform discharges, Seizure precipitated by febrile infection, Bilateral t... |
ORPHA:363558 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia |
ORPHA:1059 |
Hermansky-Pudlak Syndrome 1 |
|
Abnormal hair morphology, Gingival bleeding, Ocular albinism, Freckling, Epistaxis, Albinism, Mel... |
OMIM:203300 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Seizure, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Optic Atrophy 11 |
|
Optic atrophy, Short stature, Dysmetria, Facial diplegia, Macrotia, Hearing impairment, Hyperacti... |
OMIM:617302 |
Coffin-Siris Syndrome 7 |
|
Hypoplastic fifth toenail, Short stature, Recurrent otitis media, Macrotia, Posteriorly rotated e... |
OMIM:618027 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Parkinsonism, Optic atrophy, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Up... |
ORPHA:216873 |
Ring Chromosome 14 Syndrome |
|
Low-set ears, Status epilepticus, Pigmentary retinopathy |
OMIM:616606 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Spasticity, Progressive sensorineural... |
OMIM:125250 |
Spinocerebellar Ataxia 7 |
|
Babinski sign, Optic atrophy, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tr... |
OMIM:164500 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
EEG with frontal sharp slow waves, Bilateral tonic-clonic seizure, Infantile spasms, Hypsarrhythm... |
ORPHA:457351 |
Persistent Placoid Maculopathy |
|
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... |
ORPHA:97341 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Dystonia, Oculogyric crisis, Bradykinesia, Broad-based gait, Attention deficit hyperactivity diso... |
OMIM:617384 |
Hemophilia B |
|
Intracranial hemorrhage, Joint hemorrhage, Hematuria, Spontaneous, recurrent epistaxis, Cephalohe... |
ORPHA:98879 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Intrauterine growth retardation, Severe postnatal growth ... |
ORPHA:73272 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment... |
OMIM:251270 |
Elejalde Disease |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:256710 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, EEG abnormality, Choreoathetosis |
OMIM:612126 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with focal onset, Focal... |
OMIM:254780 |
Infantile Convulsions And Choreoathetosis |
|
Experiential epileptic aura, Normal interictal EEG, Focal impaired awareness seizure, Seizure, Fo... |
ORPHA:31709 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Focal impaired awareness seizure |
OMIM:616193 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypopigmented skin patches, Long-segment aganglionic megacolon, Absent brainstem auditory respons... |
OMIM:609136 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Decreased nerve conduction velocity, Hearing impairment |
ORPHA:101078 |
Bothnia Retinal Dystrophy |
|
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... |
ORPHA:85128 |
Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism |
OMIM:614203 |
Prothrombin Deficiency, Congenital |
|
Ecchymosis, Menorrhagia, Gingival bleeding, Prolonged prothrombin time, Joint hemorrhage, Epistax... |
OMIM:613679 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... |
ORPHA:314632 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Highly arched eyebrow, Short stature, Sensorineural hearing impairment, Hyperactivity, Low-set ears |
OMIM:618342 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Myoclonus, Tremor, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal sign |
OMIM:615924 |
Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation |
OMIM:274600 |
X-Linked Non-Syndromic Intellectual Disability |
|
Bilateral tonic-clonic seizure, Facial palsy, Seizure, Mild neurosensory hearing impairment, Mode... |
ORPHA:777 |
Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Tremor |
OMIM:159900 |
Adult Krabbe Disease |
|
Clumsiness, Babinski sign, Prolonged brainstem auditory evoked potentials, Hoffmann sign, Frequen... |
ORPHA:206448 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Hearing impairment |
OMIM:619090 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Gingival bleeding, Increased ci... |
OMIM:600903 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Abnormal platelet function, Petechiae, Chronic otitis media, Hypoplasia of the thymu... |
ORPHA:906 |
Piebaldism |
|
Hypopigmented skin patches, Aganglionic megacolon, Piebaldism, Hearing impairment, Heterochromia ... |
ORPHA:2884 |
Cofs Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Abnormality of retinal pigmentation, Seizure |
ORPHA:1466 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
Branchiootic Syndrome 1 |
|
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... |
OMIM:602588 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia |
OMIM:600363 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Tremor, Fasciculations, Decreased fertility |
OMIM:313200 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinsonism, Spast... |
OMIM:300894 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Liang-Wang Syndrome |
|
Status epilepticus, Generalized non-motor (absence) seizure |
OMIM:618729 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Dysmetria, Hearing impairment, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Hearing impairment |
OMIM:248510 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia |
OMIM:610245 |
Harel-Yoon Syndrome |
|
Optic atrophy, Generalized non-motor (absence) seizure |
OMIM:617183 |
Microcephaly-Cardiomyopathy Syndrome |
|
Seizure, Abnormality of retinal pigmentation, Abnormality of the outer ear |
ORPHA:2515 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Seizure, Optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619389 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Paraparesis, Tremor, Ataxia, Hearing impairment, Abnormal nerve conduction velocity |
ORPHA:99014 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:600116 |
Piebald Trait |
|
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... |
OMIM:172800 |
Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Prolonged brainstem auditory evoked potentials, Frequent falls, Lower limb spasticity... |
ORPHA:206443 |
Multiple System Atrophy, Parkinsonian Type |
|
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Fr... |
ORPHA:98933 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Abnormal sensory nerve conduction velocity, Fasciculations, Tongue fasciculations |
ORPHA:276435 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Hearing impairment, Seizure, EEG abnormality |
ORPHA:141 |
Retinitis Pigmentosa |
|
Conductive hearing impairment, Abnormality of retinal pigmentation, Optic atrophy, Sensorineural ... |
ORPHA:791 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
ORPHA:98763 |
Congenital Factor Ii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... |
ORPHA:325 |
Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Generalized hyperpigmentation, Hypopigmentation of the skin, Ataxia, Hypopigmentat... |
ORPHA:33445 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Anemia, Splenomegaly, Sensorineural hearing impairment, Seiz... |
ORPHA:290 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... |
OMIM:303110 |
Klippel-Trénaunay Syndrome |
|
Hematuria, Gastrointestinal hemorrhage, Microcytic anemia, Prolonged bleeding time, Internal hemo... |
ORPHA:90308 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Cochlear degeneration, Optic atrophy, Hearing impairment, Progressive cerebellar ataxia, Gait ata... |
ORPHA:95433 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Tremor, Ataxia, Incoordination, Abnormal pyramidal sign |
OMIM:614947 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Truncal ataxia, Tremor |
OMIM:616127 |
Mental Retardation, Autosomal Recessive 61 |
|
Highly arched eyebrow, Long eyelashes, Posteriorly rotated ears, Hyperactivity, Thick eyebrow, Lo... |
OMIM:617773 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Carnosinuria, Abnormality of retinal pigmentation |
OMIM:236130 |
Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Short stature, Overfolded helix, Abnormality of the pinna, Underde... |
ORPHA:50815 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Anemia, Hearing impairment, Seizure, Pigmentary retinopathy |
ORPHA:255241 |
Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Central heterochromia, Pigmentary retinopathy, Decreased response to growth... |
OMIM:275400 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Generalized tonic seizure, Focal impaired awareness seizure |
ORPHA:163985 |
Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Vertigo, Sensorineural hearing impairment, Seizure, Pigmentary retinopathy,... |
OMIM:520000 |
Cleft Lip-Retinopathy Syndrome |
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Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Hyperphenylalaninemia, Bh4-Deficient, C |
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Tremor, Hypertonia, Myoclonus, Choreoathetosis |
OMIM:261630 |
Waardenburg-Shah Syndrome |
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Abnormality of retinal pigmentation, Aganglionic megacolon, Abnormal eyebrow morphology, Hearing ... |
ORPHA:897 |
Chromosome 3Q29 Deletion Syndrome |
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Macrotia, Posteriorly rotated ears, Hyperactivity, Low-set ears, Gait ataxia |
OMIM:609425 |
Laurence-Moon Syndrome |
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Micropenis, Pigmentary retinopathy |
OMIM:245800 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Hyperactivity |
OMIM:619031 |
Congenital Disorder Of Glycosylation, Type Iif |
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Neutropenia, Decreased platelet glycoprotein Ib, Pulmonary hemorrhage, Subcutaneous hemorrhage, S... |
OMIM:603585 |
Juvenile Huntington Disease |
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Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
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