Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... |
OMIM:254770 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:607681 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... |
OMIM:609446 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... |
OMIM:615369 |
Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo... |
OMIM:615744 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic absence seizure, Multifocal epileptiform discharges, Atypical absence seizure, Myocloni... |
OMIM:618596 |
Myoclonic Epilepsy, Hartung Type |
|
Generalized myoclonic seizure |
OMIM:159600 |
Intellectual Developmental Disorder, X-Linked 89 |
|
Generalized myoclonic seizure |
OMIM:300848 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... |
ORPHA:139431 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Juvenile Myoclonic Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... |
ORPHA:307 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
Juvenile Absence Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... |
ORPHA:1941 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
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 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure |
OMIM:611364 |
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 |
Continuous Spikes And Waves During Sleep |
|
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizure, Focal-... |
ORPHA:725 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... |
OMIM:617831 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:254800 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, EEG with spike-wave complexes,... |
OMIM:607682 |
Epilepsy, Familial Temporal Lobe, 7 |
|
Focal sensory seizure with auditory features |
OMIM:616436 |
Developmental And Epileptic Encephalopathy 57 |
|
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Seizure, Atypical absence seizure, Generalized my... |
OMIM:617771 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... |
OMIM:601068 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
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 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
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 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... |
OMIM:617391 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Myoclonus, Atypical absence... |
ORPHA:2382 |
Epilepsy, Familial Temporal Lobe, 4 |
|
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features |
OMIM:611631 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... |
OMIM:607208 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia, Sensorineural hearing impairment |
ORPHA:94064 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea, Involuntary movements |
OMIM:616939 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... |
OMIM:618587 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... |
OMIM:619000 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Sensorineural ... |
OMIM:155100 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:79137 |
Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atypical abs... |
OMIM:617113 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Normal interictal EEG, Focal se... |
OMIM:602066 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Hyps... |
OMIM:616409 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Sensorineural hearing impairment, Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Imp... |
OMIM:124900 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, EEG... |
OMIM:613855 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Lissencephaly 10 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:618873 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic seizure with ge... |
ORPHA:98818 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Developmental And Epileptic Encephalopathy 56 |
|
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Focal motor seizure, ... |
OMIM:617665 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Benign Occipital Epilepsy |
|
Focal impaired awareness seizure, EEG with occipital focal spike waves |
ORPHA:25968 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Focal sensory seizure with visual features, Focal impaired awaren... |
OMIM:615400 |
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 |
Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Generalized-onset seizure, Myoclonus, EEG abnormality |
ORPHA:86814 |
Carnosinase Deficiency |
|
Generalized myoclonic seizure, EEG abnormality |
ORPHA:1361 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, EEG with irregular generaliz... |
ORPHA:86909 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... |
OMIM:615127 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... |
OMIM:614018 |
Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Hearing impairment, Spastic paraparesis |
OMIM:312910 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619157 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Myoclonic-Atonic Epilepsy |
|
Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure,... |
OMIM:616421 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Developmental And Epileptic Encephalopathy 60 |
|
Epileptic spasm, Tonic seizure, EEG with burst suppression, Myoclonic seizure, Hypsarrhythmia, Se... |
OMIM:617929 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure, EEG abnormality |
OMIM:612621 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, EEG with generalized epilepti... |
ORPHA:35878 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... |
ORPHA:36387 |
Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... |
OMIM:601764 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm |
OMIM:608653 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... |
OMIM:619970 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph... |
OMIM:613608 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... |
OMIM:617350 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Pyridoxine-Dependent Epilepsy |
|
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, EEG with burst suppression, M... |
ORPHA:3006 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Neurofibromatosis-Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Prolonged bleeding time, Short stature, Cryptorchidism, Abnorm... |
ORPHA:638 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation o... |
OMIM:614072 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... |
OMIM:619317 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... |
OMIM:609821 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Multifocal e... |
OMIM:617711 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Incr... |
ORPHA:182050 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure... |
OMIM:619913 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Dravet Syndrome |
|
Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... |
ORPHA:33069 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... |
OMIM:607745 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonic absence... |
OMIM:617836 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
High-frequency sensorineural hearing impairment, Bilateral tonic-clonic seizure with generalized ... |
ORPHA:2590 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Ataxia, Chorea, Athetosis, Abnormality of extrapyramidal motor function,... |
ORPHA:382 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Hearing impairment, Gait ataxia |
ORPHA:217012 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi... |
OMIM:614076 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i... |
OMIM:165300 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... |
ORPHA:231393 |
Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... |
ORPHA:98820 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... |
OMIM:617443 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Optic atrophy, Generalized non-motor (absence) seizure, Myoclonic... |
OMIM:617810 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... |
OMIM:601399 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, EEG abnormality... |
OMIM:271980 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Cafe-au-lait spot, Low-set ears |
ORPHA:436151 |
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 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Hypopigmentation of the skin, Epistaxis, Albinism, Im... |
OMIM:614075 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Albi... |
OMIM:614074 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Benign Familial Neonatal Epilepsy |
|
Focal EEG discharges with secondary generalization, Simple febrile seizure, Focal-onset seizure, ... |
ORPHA:1949 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Ataxia |
ORPHA:71518 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure, Abnormal motor ev... |
ORPHA:320401 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... |
OMIM:153670 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Sensorineural hearing impairmen... |
ORPHA:3226 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:613886 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... |
OMIM:619279 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Heterochromia iridis, Hypergonadotropic hypogonadism, Abnormality of the middle... |
ORPHA:90646 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... |
ORPHA:238459 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Prominent ear helix, Generalized non-motor (absence) seizure, Multifocal epilep... |
ORPHA:411986 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... |
OMIM:614009 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Huntington Disease-Like 1 |
|
Abnormal head movements, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria... |
ORPHA:157941 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Fair hair, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Redu... |
OMIM:619172 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, EEG with generalized epileptiform discharges |
OMIM:616187 |
Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Generalized non-motor (absence) seizure, Focal motor seizure |
OMIM:615553 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... |
ORPHA:1942 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Bilateral Frontoparietal Polymicrogyria |
|
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali... |
ORPHA:101070 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Spasticity |
OMIM:615768 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of... |
OMIM:614171 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Frequent falls, Incoordination, Ataxia |
ORPHA:79136 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Extrapyramidal muscular rigidity, Chorea, Abnormal pyramidal sign, Progr... |
ORPHA:157946 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:208447 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619616 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, EEG abnormality, Pigmentary retinopathy, Generalized myoclonic seizure, Retinopathy |
OMIM:610951 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Stxbp1-Related Encephalopathy |
|
Ataxia, EEG with abnormally slow frequencies, Tremor, Spastic tetraplegia, Multifocal epileptifor... |
ORPHA:599373 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... |
ORPHA:274 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand... |
OMIM:300624 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure... |
OMIM:616281 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Hypertonia... |
ORPHA:1368 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Prolonged bleeding time, Absent platelet dense granules, Fair hai... |
OMIM:608233 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Torticollis, Hypergonadotropic hypogonadism, Hearing i... |
OMIM:613724 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Seizure, Generalized non-motor (absence) seizure |
ORPHA:98811 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Abcd Syndrome |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal auditory evoked potentials, Albin... |
OMIM:600501 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Iris hypo... |
ORPHA:231183 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Nephronophthisis |
|
Abnormality of retinal pigmentation, Renal insufficiency, Anemia |
ORPHA:655 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Excessive bleeding after a venip... |
OMIM:614077 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... |
OMIM:607876 |
Infantile Convulsions And Choreoathetosis |
|
Focal-onset seizure, Seizure, Complex febrile seizure, Focal impaired awareness seizure, Experien... |
ORPHA:31709 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... |
ORPHA:485350 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... |
OMIM:619428 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... |
ORPHA:216873 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Iris hypo... |
ORPHA:231169 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... |
OMIM:619854 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... |
OMIM:245348 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
Distal Deletion 10Q |
|
Short stature, Aggressive behavior, Postnatal growth retardation, Congenital sensorineural hearin... |
ORPHA:96148 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with generalized slow activity, Bilateral tonic-clonic seizure, Focal-onset seizure, Typical ... |
ORPHA:168491 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... |
OMIM:617145 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Sensorineural hearing impairment, Hypopigmented ... |
ORPHA:895 |
Ring Chromosome 14 Syndrome |
|
Generalized-onset seizure, Focal-onset seizure, Pigmentary retinopathy, Status epilepticus, Focal... |
OMIM:616606 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Trunc... |
ORPHA:363710 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Seizure, EEG... |
OMIM:617519 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... |
ORPHA:64280 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, Frontal upsweep of ... |
OMIM:300983 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Developmental And Epileptic Encephalopathy 110 |
|
Generalized non-motor (absence) seizure, Low-set ears, Focal impaired awareness hemiclonic seizur... |
OMIM:620149 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Ravine Syndrome |
|
Spasticity, Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
Lafora Disease |
|
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... |
ORPHA:501 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... |
OMIM:620158 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure |
OMIM:616521 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Sensorineural hearin... |
ORPHA:52368 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Neurogenic bladder, Optic neuropathy, Sensorineural hearing impairment, Optic ... |
OMIM:604928 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
Mgat2-Cdg |
|
Abnormal bleeding, Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phy... |
ORPHA:79329 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Hypertonia, Spas... |
OMIM:609260 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... |
ORPHA:247815 |
Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos... |
OMIM:210250 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... |
ORPHA:99027 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... |
ORPHA:2885 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Generalized non-motor (absence) seizure |
OMIM:618242 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Generalized-onset seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:620166 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Generalize... |
OMIM:618170 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Anemia, Seizure, Thrombocytopenia, Hearing impairment |
ORPHA:858 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Frec... |
OMIM:203300 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Short stature, Aggressive behavior, Anteverted ears, Synophrys, Macrotia, Abnormal... |
OMIM:615541 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Abnormal nerve conduction velocity, Hearing impairment |
ORPHA:101075 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... |
ORPHA:3318 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time, Facial palsy |
ORPHA:1114 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
EEG abnormality, Overfolded helix, Posteriorly rotated ears, Generalized non-motor (absence) seizure |
OMIM:300801 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Absence seizure with eyelid myoclonia, Megaloblastic anemia, Generalized non-motor ... |
OMIM:613839 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia |
ORPHA:1059 |
Lissencephaly Due To Lis1 Mutation |
|
EEG with changes in voltage, Infantile spasms, Focal motor seizure, Hypsarrhythmia, Seizure, Foca... |
ORPHA:95232 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Fasciculations, Upper ... |
ORPHA:276435 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Infantile spasms, Sensorineural hearing impairment, Generalized non-motor (abs... |
OMIM:617201 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Seizure, Macrotia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300558 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Seizure, Increased level of L-pyroglutamic acid in urine, Pigmentary retinopath... |
OMIM:266130 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Seizure, Bilateral sensorineural hearing impairment, Low-s... |
OMIM:264470 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... |
ORPHA:363558 |
7Q31 Microdeletion Syndrome |
|
Hyperactivity, Postnatal growth retardation, Hypoplasia of the cochlea, Hypoplasia of the semicir... |
ORPHA:251061 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Decreased nerve conduction velocity, Ataxia, Hearing impairment |
ORPHA:101078 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, EEG with f... |
ORPHA:98795 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret... |
OMIM:617879 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Sensorineural hearing impairment, Generalized n... |
ORPHA:457351 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing imp... |
OMIM:125250 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz) |
OMIM:616366 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Hypospadias, Anteverted ears, Eating-induced seizure, Macrotia, Myoclo... |
ORPHA:544254 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Hearing impairment |
OMIM:619090 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... |
OMIM:617600 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ... |
ORPHA:206443 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Decreased fertility, Fasciculations, Testicular atrophy |
OMIM:313200 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Sensorineural hearing impairment, Blue iri... |
OMIM:277580 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Seizure, Optic disc pallor |
OMIM:619389 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:227510 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordi... |
ORPHA:79263 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Seizure, Optic atrophy |
ORPHA:1466 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Optic atrophy, Dystonia, Delayed menarche |
ORPHA:330050 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Ogden Syndrome |
|
Abnormal head movements, Postnatal growth retardation, Cryptorchidism, Fine hair, Low-set ears, M... |
ORPHA:276432 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous... |
ORPHA:329284 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Abnormal aut... |
OMIM:618049 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Short stature, Postnatal growth retardation, Congenital sensorineural hearing impa... |
ORPHA:73272 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Optic atrophy, Abnormal nerve conduction velocity, Hearing impairment |
ORPHA:99014 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Proteinuria, Macrothrombocytopenia, Seizure, Aminoaciduria, Neutropenia,... |
OMIM:603585 |
Diabetes And Deafness, Maternally Inherited |
|
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment, Pigmentary retinopathy, ... |
OMIM:520000 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Short stature, Abnormality of the middle ear... |
ORPHA:50815 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag... |
ORPHA:897 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Seizure, Abnormality of the outer ear |
ORPHA:2515 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... |
OMIM:616973 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, EEG abnormality, Seizure, Hearing impairment |
ORPHA:141 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Microcytic anemia, Hematuria, Internal hemo... |
ORPHA:90308 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria |
OMIM:236130 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hearing impa... |
ORPHA:139485 |
Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Short stature, Rhizomelia, Conductive hearing impairment, Bruising susce... |
OMIM:616229 |
Hyperprolinemia Type 2 |
|
Early onset absence seizures, Generalized-onset seizure, Seizure, EEG with generalized sharp slow... |
ORPHA:79101 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Nicolaides-Baraitser Syndrome |
|
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure |
ORPHA:3051 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... |
OMIM:619835 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Seizure |
OMIM:551500 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Classic Galactosemia |
|
Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Premature ovarian insu... |
ORPHA:79239 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Splenomegaly, Sensorineural hearing impairment, Anemia, Seiz... |
ORPHA:290 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Sensorineural hearing imp... |
ORPHA:44 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, S... |
ORPHA:791 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility, Hearing impairment |
ORPHA:49042 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se... |
OMIM:618144 |
Liang-Wang Syndrome |
|
Status epilepticus, Generalized non-motor (absence) seizure |
OMIM:618729 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy, Seizure |
OMIM:617613 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, EEG abnormality, Dystonia |
OMIM:612126 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Nephropathy, Prolonged bleed... |
OMIM:301000 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... |
ORPHA:206594 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... |
OMIM:616881 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Tubulinopathy-Associated Dysgyria |
|
Startle-induced seizure, Generalized non-motor (absence) seizure, Infantile spasms |
ORPHA:467166 |
Harel-Yoon Syndrome |
|
Optic atrophy, Generalized non-motor (absence) seizure |
OMIM:617183 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Progressive spastic paraparesis, Babinski... |
ORPHA:206448 |
Zika Virus Disease |
|
Optic disc hypoplasia, Subcutaneous hemorrhage, Macular atrophy, Retinal pigment epithelial mottl... |
ORPHA:448237 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra... |
OMIM:619260 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Narp Syndrome |
|
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Seizure, M... |
ORPHA:644 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Seizure, Typical absence seizure |
ORPHA:576283 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... |
OMIM:616108 |
Crouzon Syndrome |
|
Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Conductive hearing impairment, Narr... |
ORPHA:207 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Hypergonadotropic hypogonadism, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Hearing impairmen... |
OMIM:300623 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba... |
ORPHA:2884 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Sensorineural hearin... |
OMIM:222300 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdiadochokinesis, Tru... |
OMIM:610185 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal hair mo... |
ORPHA:894 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Seizure, Hearing impairment |
ORPHA:65 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Blue irides, Compulsive behaviors, Attention deficit hyperact... |
OMIM:261600 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Bilateral tonic-clonic seizure, Multifocal epileptiform discharge... |
OMIM:615398 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Polyphagia, Hypopigmentat... |
ORPHA:177910 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Short... |
OMIM:609136 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Short stature, Poliosis, Abnormal eyelash morphol... |
ORPHA:3437 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia |
OMIM:617106 |
Leber Congenital Amaurosis 1 |
|
Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigmentary retinopathy, Hype... |
OMIM:204000 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Decreased circulating IgG2 level, Sensorineural hearing impa... |
ORPHA:1493 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Abnormality of skin pigmentation, Hyperactivity, Aggressive behavior, Hearing impairment |
ORPHA:457260 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... |
OMIM:618877 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Seizure... |
ORPHA:3240 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Coffin-Siris Syndrome 2 |
|
Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Abnormal pinna morphology, Short statu... |
OMIM:614607 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Sensorineural hearing impairment |
ORPHA:66633 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Hypoplasia of penis, Retinal degeneration, Central heterochromia |
OMIM:275400 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
4H Leukodystrophy |
|
Ataxia, Hypogonadotropic hypogonadism, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia,... |
ORPHA:289494 |
Ramon Syndrome |
|
Conductive hearing impairment, Abnormality of retinal pigmentation, Sensorineural hearing impairm... |
ORPHA:3019 |
Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Posteriorly rotated ears, Generalized clonic seizure, Focal-onset sei... |
OMIM:619229 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Warsaw Breakage Syndrome |
|
Hypermelanotic macule, Postnatal growth retardation, Hypoplasia of the cochlea, Cupped ear, Optic... |
OMIM:613398 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Micropenis, Seizure, Retinal degeneration |
ORPHA:3363 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Decreased sensory nerve cond... |
OMIM:603472 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Splenomegaly, Leukopenia,... |
ORPHA:809 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign, Optic atrophy, Dys... |
OMIM:607694 |
Cln3 Disease |
|
Bilateral tonic-clonic seizure, Bull's eye maculopathy, Focal-onset seizure, Vacuolated lymphocyt... |
ORPHA:228346 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Poor gross motor coordination, Multifocal epilep... |
ORPHA:228360 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Seizure, Optic atrophy, Myoclonic absence seizure |
OMIM:616034 |
Early Infantile Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure... |
ORPHA:1934 |
Macs Syndrome |
|
Prolonged bleeding time, Alopecia, Short stature, Hypergonadotropic hypogonadism, Sparse eyebrow,... |
OMIM:613075 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Hearing impairment |
ORPHA:480 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Fg Syndrome 3 |
|
Hyperactivity, Cryptorchidism, Sensorineural hearing impairment, Fine hair, Frontal upsweep of ha... |
OMIM:300406 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Abnormal re... |
ORPHA:1215 |
Houge-Janssens Syndrome 3 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... |
OMIM:618354 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Tremor, Progressive hearing impairment, Hypogonadism, My... |
ORPHA:97229 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Short stature, Birth length less than 3rd percentile, I... |
OMIM:614104 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormal retinal vascular... |
ORPHA:1390 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hypospadias, Tonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepticus,... |
OMIM:300260 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Hematuria, Abnormal circu... |
ORPHA:2196 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... |
ORPHA:324636 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Decreased motor nerve conduction velocity |
OMIM:607734 |
Ermine Phenotype |
|
Hypopigmentation of hair, Short stature, Sensorineural hearing impairment, Ocular albinism, Hypop... |
ORPHA:999 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Noonan Syndrome |
|
Abnormal bleeding, Low-set, posteriorly rotated ears, Abnormal hair quantity, Short stature, Hypo... |
ORPHA:648 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Intrauterine growth retardation, Hearing impai... |
ORPHA:369939 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Aganglionic megacolon, Sensorineural hearing impairment, Generali... |
OMIM:614207 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Macular degeneration, Seizure... |
ORPHA:816 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Infantile spasms, Splenomegaly, Optic atrophy, Genera... |
ORPHA:404454 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... |
ORPHA:240085 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity, Uplifted earlobe, Synophrys, Macroorchidism |
OMIM:300143 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Sensorineural hea... |
OMIM:302800 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of hair, Polyphagia, Inappropriate laughter, Hypopigmentation of ... |
ORPHA:411515 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, EEG ... |
ORPHA:282166 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Chronic kidney disease, Stage 5 chronic k... |
ORPHA:3156 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Parkinsonism, Focal EEG discharges with secondary generali... |
ORPHA:3077 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Steroid-dependent nephrotic syndrome, Urinary incontinence, Bilateral tonic-clonic seizure, Tonic... |
OMIM:300912 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Premature ovarian insufficiency, Short stature, Aggressive behavior, Synophrys, Ma... |
ORPHA:391307 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:241200 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Micropenis, EEG abnormal... |
OMIM:617798 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Renal cyst, Hypercalciuria, N... |
ORPHA:369837 |
Distal Renal Tubular Acidosis |
|
Short stature, Sensorineural hearing impairment, Growth delay, Hypokalemia, Polydipsia, Enlarged ... |
ORPHA:18 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Fatigable weakness of respiratory muscles, Pigmentary retinopathy, Hearing impairment |
ORPHA:329336 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy, Micropenis, Facial palsy, Fatigable weakness of skeletal muscles |
ORPHA:370968 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... |
ORPHA:101 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Mogs-Cdg |
|
Decreased circulating IgG level, Absent brainstem auditory responses, Sensorineural hearing impai... |
ORPHA:79330 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Seizure, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Seizure, Abnormal auditory evoked potentials |
ORPHA:529799 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Squalene Synthase Deficiency |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Bilateral cryptorchidism, Abnormality of hair p... |
OMIM:618156 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Splenomegaly, Sensorineural hearing impairment, Optic atroph... |
ORPHA:585 |
3P25.3 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Generalized non-motor (absence)... |
ORPHA:435638 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Angelman Syndrome |
|
Optic disc pallor, Atonic seizure, Infantile spasms, Optic atrophy, EEG abnormality, Seizure, Sta... |
ORPHA:72 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria,... |
OMIM:614381 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Hearing impairment, Tremor, Head titubation, Spasti... |
OMIM:312080 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Babinski sign, Torsion d... |
OMIM:128100 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Hyperinsulinemia |
ORPHA:3085 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Postlingual sensorineural hearing impairment, Dystonia, Progressive sensorineural hearing... |
OMIM:304700 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Hypermelanotic macule, Opt... |
ORPHA:90321 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Oculopharyngodistal Myopathy 3 |
|
Conductive hearing impairment, Pigmentary retinopathy, Sensorineural hearing impairment |
OMIM:619473 |
Dpm1-Cdg |
|
Early onset absence seizures, Atonic seizure, Optic atrophy, Hepatosplenomegaly, Seizure, General... |
ORPHA:79322 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,... |
ORPHA:436271 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Bilateral tonic-clonic seizure, Seizure, Pigmentar... |
ORPHA:79264 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Hypopigm... |
ORPHA:3440 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Retinal dystrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Promi... |
OMIM:615802 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Progressive spasticity, Truncal ataxia, ... |
OMIM:210000 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Optic atrophy, Hyps... |
ORPHA:442835 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Seizure, Abnormal pinna morphology, Generalized non-motor (absence) seizure, Low-set ears |
OMIM:612337 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Renal insufficiency, Hypoplasia of penis, Epileptic spasm, Generalized non-motor (absence) seizur... |
ORPHA:96147 |
Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve condu... |
OMIM:618733 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia, Growth delay, Delayed puberty, Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia, Growth delay, Delayed puberty, Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Generalized non-motor (absence) seizure, Hypospadias, Optic nerve hypoplasia |
ORPHA:363686 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom... |
OMIM:618060 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Posteriorly rotated ears, Generalized non-motor (absence) seizure, Seizure, Low-set ears, Overfol... |
OMIM:617360 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Cystathioninuria |
|
Tremor, External ear malformation |
ORPHA:212 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Optic atrophy, Generalized non-motor (absenc... |
ORPHA:395 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... |
OMIM:617013 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... |
OMIM:277400 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Saethre-Chotzen Syndrome |
|
Short stature, Abnormal hair pattern, Prominent crus of helix, External ear malformation, Sensori... |
ORPHA:794 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiol... |
OMIM:300894 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, General... |
ORPHA:79351 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Hearing impairment, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, Pa... |
OMIM:105210 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Synotia, Narrow internal auditory canal, Aplasia/Hypoplasia of... |
ORPHA:990 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait |
OMIM:616795 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Hypsarrhythmia, Chor... |
OMIM:612164 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Functional abnormality of the bladder, Pigmentary retinopathy, Seizure, Retinal flecks, Yellow/wh... |
ORPHA:100996 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Urinary inc... |
OMIM:609033 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Short stature, Postnatal growth retardation, Sensorineural hearing impairment, Int... |
OMIM:608747 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... |
ORPHA:293978 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Cryptorchidism, Blue irides, Red hair, Mild short stature, Fair hair, Intrauterine... |
OMIM:614613 |
Gorham-Stout Disease |
|
Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Leukocyte Adhesion Deficiency |
|
Abnormal bleeding, Acute myeloid leukemia, Polycythemia, Glomerulonephritis, Hemolytic-uremic syn... |
ORPHA:2968 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Diprosopus |
|
External ear malformation, Abnormality of retinal pigmentation |
ORPHA:1681 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Synophrys, Coarse hair, Hirsutism, Hearing impairment |
OMIM:252920 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Seizure, Optic atrophy, Myoclonus |
OMIM:252011 |
Apert Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... |
ORPHA:87 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, My... |
OMIM:619059 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... |
OMIM:620224 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Postnatal growth retardation, Sensorineural ... |
ORPHA:1435 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Melanocytic nevus, Optic atrophy, Hearing impairment |
ORPHA:2801 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormal bleeding, Abnormality of retinal pigmentation |
ORPHA:1117 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Retinal fold, Protruding ear |
OMIM:108145 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Cryptorchidism, Sensorineural hearing impa... |
OMIM:613266 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Leigh Syndrome |
|
Pigmentary retinopathy, Sensorineural hearing impairment, Seizure, Optic atrophy |
OMIM:256000 |
Sandifer Syndrome |
|
Abnormal head movements, Torticollis |
ORPHA:71272 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Sensorineural hearing impairment, Renal tubular acidosis, Pigmentary retino... |
OMIM:530000 |
Monosomy 13Q34 |
|
Posteriorly rotated ears, Epistaxis, Hypercalcemia, Metrorrhagia, Abnormal earlobe morphology, He... |
ORPHA:96168 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Facial palsy, Highly arched eyebrow, Hypogonado... |
ORPHA:138 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... |
OMIM:168600 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Seizure, Optic atrophy, Protruding ear |
ORPHA:2518 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
EEG abnormality, Seizure, Abnormality of retinal pigmentation |
ORPHA:1496 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Abnormal helix morphology |
ORPHA:1259 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Dilatation of renal calices, Sensorineu... |
ORPHA:466943 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Growth delay, Self-injurious behavior, Attention deficit hyperactivity ... |
ORPHA:79254 |
Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of t... |
ORPHA:2306 |
Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Tremor, Rigidity, Bradykinesia, Male sexual dysfunction, Abnormal auto... |
ORPHA:2828 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Short stature, Highly arched eyebrow, Aggressive behavior, Promi... |
OMIM:619695 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Multiple ... |
ORPHA:3214 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Abnormality of retinal pigmentation, Nephronophthisis |
ORPHA:474 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Sensorineural hearing impairment, Optic atrophy, Renal tubular dy... |
OMIM:220110 |
Relapsing Fever |
|
Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Hematuria, Leukopenia... |
ORPHA:91547 |
Joubert Syndrome 3 |
|
Retinal dystrophy, Stage 5 chronic kidney disease, Pigmentary retinopathy, Low-set ears, Nephrono... |
OMIM:608629 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Renal insufficiency, Proteinuria, Abnormal retinal vascular ... |
ORPHA:2715 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Hearing impairment, Synophrys, Coarse hair, Dysphagia, Hirsutism, Hypertrichosis |
OMIM:252930 |
Arthrogryposis, Distal, Type 2A |
|
Seizure, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Muenke Syndrome |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Hypermela... |
ORPHA:53271 |
Tay-Sachs Disease |
|
Typical absence seizure, Optic atrophy, Hepatosplenomegaly, Seizure, Focal impaired awareness sei... |
ORPHA:845 |
Spinocerebellar Ataxia Type 27 |
|
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia |
ORPHA:98764 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Synophrys, Coarse hair, Hirsutism, Hearing impairment |
OMIM:252900 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Opti... |
ORPHA:2510 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Focal-onset seizure, Retinal pigment epithelial mottling, Tonic seizure, Myoclonic seizure |
OMIM:619517 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Epistaxis, Angioid streaks of the fundus, Prolonged prothrombin time, Retinal ... |
OMIM:610842 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Imp... |
OMIM:146500 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Proximal tubulopath... |
OMIM:560000 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Congenital sensorineural hearing impairment, Retinal pigment ep... |
ORPHA:52427 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling, Sensorineural hearing impairment |
OMIM:234580 |
Cockayne Syndrome A |
|
Renal insufficiency, Retinal atrophy, Abnormal pinna morphology, Proteinuria, Abnormal auditory e... |
OMIM:216400 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Renal insufficiency, Splenomegaly, Sensorineural hearing imp... |
ORPHA:773 |
Isolated Succinate-Coq Reductase Deficiency |
|
Generalized myoclonic seizure, Pigmentary retinopathy, Seizure, Vesicoureteral reflux, Focal myoc... |
ORPHA:3208 |
Cardiospondylocarpofacial Syndrome |
|
Decreased testicular size, Posteriorly rotated ears, Short stature, Congenital sensorineural hear... |
OMIM:157800 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, Hypochromic... |
OMIM:600462 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Low-s... |
ORPHA:8 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Opt... |
OMIM:268315 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Severe short stature |
ORPHA:1901 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Aminoaciduria, Seizure, Hypoplas... |
OMIM:214110 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Ataxia, Dysmetria, Titubation |
OMIM:619405 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Heparan sulfate excretion in urine, Splenomegal... |
OMIM:309900 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Se... |
ORPHA:5 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... |
ORPHA:49566 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Melanocytic nevus, Seizu... |
OMIM:277590 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriate laughter, Dys... |
ORPHA:411511 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... |
ORPHA:240071 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Mucolipidosis Type Iv |
|
Retinopathy, EEG abnormality, Abnormality of retinal pigmentation |
ORPHA:578 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time, Gingival ble... |
ORPHA:335 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Renal insufficiency, Ketonuria, Macular coloboma, Infantile spasms, Megaloblastic anemia, Hemolyt... |
ORPHA:79282 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Optic disc pallor, Dystonia, Ataxia, Parkinsonism, Abnormal auditory evoked poten... |
ORPHA:909 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Seizure, Abnormal sensory nerve ... |
ORPHA:88628 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr... |
ORPHA:99147 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Hydronephrosis |
ORPHA:873 |
Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Seizure, Prolonged prothrombin time, Multifocal epileptiform discharges, Sensorineural hearing im... |
OMIM:614300 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia |
OMIM:600151 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a... |
OMIM:216550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy, Micropenis, Facial palsy |
OMIM:613156 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Renal hypoplasia, Horseshoe kidney, Generali... |
OMIM:619297 |
Cockayne Syndrome B |
|
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... |
OMIM:133540 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriat... |
ORPHA:98794 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Decreased nerve conduction velocity, Vocal cord paralysis, Bilateral sensorineural hearin... |
ORPHA:397744 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Short stature, Growth delay, Intrauterine growth retardation, Cafe-au-l... |
OMIM:618541 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, External ear malformation, Sensorineural ... |
ORPHA:233 |
Melas |
|
Proteinuria, Bilateral tonic-clonic seizure, Focal-onset seizure, Sensorineural hearing impairmen... |
ORPHA:550 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Generalized-onset seizure, Proteinuria, Rod-cone dystrophy, Rena... |
OMIM:212065 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic parap... |
OMIM:618527 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Nephrotic s... |
ORPHA:110 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Sensorineural hearing impairment, A... |
ORPHA:193 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Acanthocytosis, Abnormal erythrocyte morphology, Sensorineural hearing impair... |
ORPHA:96180 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Optic... |
OMIM:614298 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Micropenis, Chorioretinal atrophy |
OMIM:245800 |
Kallmann Syndrome |
|
Dyspareunia, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Sensorineural hearing... |
ORPHA:478 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, ... |
OMIM:606002 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Simple febrile seizure, Dilatation of r... |
ORPHA:466950 |
Sialuria |
|
Prolonged prothrombin time, Low-set ears, Attention deficit hyperactivity disorder |
ORPHA:3166 |
Tick-Borne Encephalitis |
|
Generalized-onset seizure, Facial palsy, Thrombocytopenia, Leukocytosis, Vertigo, Focal-onset sei... |
ORPHA:297 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Generalized-onset seizure, Hypospadias, Brushfield spots, Splenomegaly, Sensorineural hearing imp... |
OMIM:614866 |
Pseudohypoparathyroidism Type 1A |
|
Reduced circulating prolactin concentration, Sensorineural hearing impairment, Elevated circulati... |
ORPHA:79443 |
Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormality of chromosome... |
ORPHA:175 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Hyperactivity, Posteriorly rotated ears, Short stature, Cryptorchi... |
OMIM:607721 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Splenomegaly, White forelock, Abnormality of the middle ear,... |
ORPHA:742 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le... |
ORPHA:64743 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Hearing impairment, Tremor, Cryptorchidism, Fasciculations, Limb hy... |
OMIM:620327 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Pigmentary retinopathy, Seizure, Low-... |
OMIM:612582 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Seizure, Facial palsy, Generalized non-motor (absence) seizure |
ORPHA:258 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Decreased circulating parathyroid hormone level, Asplenia, Nephrocalcinosis, Perifoveal ring of h... |
OMIM:240300 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Seizure |
ORPHA:216866 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Leukocytosis, Hypsarrhythmia, EEG abnormality, Prolonged prothrombin time, Leukopenia,... |
ORPHA:20 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Optic atrop... |
ORPHA:505248 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Stag... |
OMIM:615994 |
Factor X Deficiency |
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Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling, Low-set ears |
OMIM:617102 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
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Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Alg12-Cdg |
|
Retinal detachment, Decreased serum insulin-like growth factor 1, Abnormal pinna morphology, Hypo... |
ORPHA:79324 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Brittle Cornea Syndrome 1 |
|
Red hair, Hearing impairment |
OMIM:229200 |
Noonan Syndrome 9 |
|
Curly hair, Short stature, Sparse eyebrow, Cryptorchidism, Prolonged prothrombin time |
OMIM:616559 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Posteriorly rotated ears, Hypospadias, Brushfield spots, Sensorineural hearing... |
OMIM:214100 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Leukopenia, Prolonged prothrombin time, 3-Methylglutaconic aciduria, Seizure, ... |
OMIM:616271 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degener... |
OMIM:615986 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Pigmentary retinopathy, P... |
ORPHA:71212 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Short stature, Abnormality of hair texture, Cryptorchidism, Protruding ... |
ORPHA:96169 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... |
ORPHA:48818 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Abnormal optic chiasm morphology, Retinal detachment, Hypospadias, Bilateral tonic-clonic seizure... |
ORPHA:268261 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Cerebellar hemorrhage, Fatigable weakness, Prolonged prothrombin time, Thr... |
ORPHA:99901 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Bulimia, ... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Bulimia, ... |
ORPHA:177904 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopenia, Hyp... |
ORPHA:77293 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Bulimia, ... |
ORPHA:177901 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu... |
OMIM:603553 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Polyphagi... |
OMIM:176270 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Retinal pigment epithelial mottling, Progressi... |
OMIM:251260 |
Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Protruding ... |
ORPHA:192 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Bulimia, ... |
ORPHA:98754 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Menometrorrhagia, Parti... |
ORPHA:79430 |
Chromosome Xp11.3 Deletion Syndrome |
|
Bilateral tonic-clonic seizure, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenu... |
OMIM:300578 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Pigmentary ... |
OMIM:610651 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Sensorineural heari... |
ORPHA:163746 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Abnormality of Krebs cycle metabolism, Sensorin... |
ORPHA:255210 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Seizure, Hemophagocytosis, Thromboc... |
OMIM:267700 |
Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Thickened helices, Abnormality of the middle ear ossicles, Heparan sulf... |
ORPHA:581 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Retinal pigment epithelial mottling, Methylmalonic acidur... |
OMIM:614105 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Short stature, Posteriorly rotated ears, Cryptorchidism, Synophrys, Growth delay, ... |
OMIM:614294 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Rod-cone dystrophy, Abnormality of the ear |
OMIM:268020 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Renal insufficiency, Hyperinsulinemia, Tubulointerstitial nephritis, Pig... |
OMIM:203800 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D... |
ORPHA:466768 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Typical absence seizure, Vesicoureteral... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Typical absence seizure, Vesicoureteral... |
ORPHA:352665 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Infantile spasms, Optic disc coloboma, O... |
ORPHA:50 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Sensorineural hearing impairment, Synophrys, Aplasia of the inner ear, Microt... |
ORPHA:90024 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Chorioretinal hyperpigmentation, Sensorineural hearing impairment, Optic atrophy, Myoclonic seizu... |
OMIM:618329 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:886 |
Mulibrey Nanism |
|
Pigmentary retinopathy |
OMIM:253250 |
Cockayne Syndrome |
|
Urinary incontinence, Retinal arteriolar constriction, Retinal degeneration, Retinal atrophy, Ren... |
ORPHA:191 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Prolonged prothrombin time, Low-set ears, Neutropenia, Thrombocytopenia |
OMIM:617941 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Seizure, Retinal f... |
ORPHA:157850 |
Lathosterolosis |
|
Hypoplasia of penis, Anisopoikilocytosis, Abnormal platelet morphology, Horseshoe kidney, Seizure... |
ORPHA:46059 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst |
OMIM:605231 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Short stature, Postnatal growth retardation, Prolonged prothrombin time, Hypocalcemia, ... |
OMIM:212750 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Epileptic spasm, Hydroureter, Posteriorly rotated ears, Generalized non-motor (absence) seizure, ... |
ORPHA:2636 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sensorineural hearing impairment, Renal hypoplasia, Renal cyst, Pigmentary ... |
OMIM:618460 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo... |
ORPHA:244242 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Seizure, Typical absence seizure |
OMIM:618343 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Short stature, Impulsivity, Cryptorchidism, Polyphagia, Primary amenorr... |
ORPHA:398069 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Short stature, Cryptorchidism, Sensorineural hearing impairment, Ocular... |
ORPHA:2719 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuria, Hyperpigmentation of the skin, T... |
ORPHA:699 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:615530 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Polyphagia, Primary amen... |
ORPHA:398079 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Abetalipoproteinemia |
|
Abnormal bleeding, Reticulocytosis, Abnormality of retinal pigmentation, Acanthocytosis, Rod-cone... |
ORPHA:14 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Decreased nerve conduction veloci... |
ORPHA:580 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time, Seizure, Myoclonus |
ORPHA:95428 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... |
OMIM:617547 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Choroidal neovascularization, Sterile pyuria, Increased circulating IgG level,... |
ORPHA:91500 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Seizure, Spotty hypopigmentation, Low-set ears |
ORPHA:401973 |
Brittle Cornea Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Bruising susceptibility, Abnorma... |
ORPHA:90354 |
Norrie Disease |
|
Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea... |
ORPHA:649 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Legius Syndrome |
|
Inguinal freckling, Hyperactivity, Short stature, Axillary freckling, Vestibular schwannoma, Atte... |
ORPHA:137605 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Abnormality of retinal pigmentation, Hypospadias, Chorioretinal dyspla... |
ORPHA:2556 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Helsmoortel-Van Der Aa Syndrome |
|
Posteriorly rotated ears, Facial palsy, Tonic seizure, Typical absence seizure, Cupped ear, Enure... |
OMIM:615873 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Ataxia-Telangiectasia |
|
Ataxia, Female hypogonadism, Tremor, Slurred speech, Choreoathetosis, Progressive cerebellar atax... |
OMIM:208900 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Abnormal repetitive manne... |
ORPHA:177907 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Pigmentary retinopathy, Seizure |
ORPHA:79095 |
Sotos Syndrome |
|
Ureteral duplication, Chronic otitis media, Vesicoureteral reflux, Conductive hearing impairment,... |
ORPHA:821 |
Charge Syndrome |
|
Mixed hearing impairment, Hypogonadotropic hypogonadism, Facial palsy, Aplasia of the semicircula... |
OMIM:214800 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Bilateral tonic-clonic seizure, Abnormal Eustachian tube morphology, Generalized non-motor (absen... |
ORPHA:513456 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Infantile Liver Failure Syndrome 2 |
|
Seizure, Prolonged prothrombin time |
OMIM:616483 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Optic nerve hypoplasia, Unilateral renal agenesis, Optic atrophy, Gene... |
ORPHA:500150 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Prolonged prothrombin time, Extramedullary hematopoiesis, Renal cyst |
ORPHA:79303 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Posteriorly rotated ears, Optic nerve hypoplasia, Bilateral tonic-clonic ... |
OMIM:620330 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Decreased nerve conduction velocity, ... |
OMIM:214500 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Sensorineural hearing impairment, Protruding ear, Pigmentary retinopathy, Low-set ears, Micropenis |
OMIM:614230 |
Vici Syndrome |
|
Hypopigmentation of hair, Albinism, Postnatal growth retardation, Sensorineural hearing impairmen... |
OMIM:242840 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Heparan sulfate excretion in urin... |
ORPHA:217085 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Streak ovary, Aganglionic megacolon, Generalized hypertrichosis, Dysph... |
ORPHA:798 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath... |
ORPHA:2330 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Heparan sulfate excretion in urin... |
ORPHA:217093 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Seizure, Prolonged prothrombin time, Aminoaciduria, Status epileptic... |
OMIM:619055 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Optic atrop... |
ORPHA:394 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Bladder diverticulum, Ecchymosis, Bruising susc... |
ORPHA:287 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Pigmentary retinopathy, Hearing impairment |
ORPHA:502423 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Enlarged kidney, Patent urachus, Micropenis, Penoscrot... |
OMIM:618280 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Optic atrophy, Pigmentary retinopathy, Myoclonus |
OMIM:617282 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Dry hair, Posteriorly rotated ears, Short stature, Widow's peak, Coarse... |
ORPHA:1974 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Conductive hearing impairment, Abnormal sperm motility, Hea... |
ORPHA:244 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Generalized non-motor (absence)... |
OMIM:612474 |
Treacher-Collins Syndrome |
|
Absent eyelashes, Abnormal hair morphology, Cryptorchidism, Low anterior hairline, Microtia, Cond... |
ORPHA:861 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hearing abnormality, Hypopigm... |
ORPHA:636 |
Cystinosis, Nephropathic |
|
Hyponatremia, Male infertility, Hypopigmentation of hair, Short stature, Oral-pharyngeal dysphagi... |
OMIM:219800 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, O... |
OMIM:234200 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy, Hearing impairment |
OMIM:617675 |
Hardikar Syndrome |
|
Renal insufficiency, Hydroureter, Decreased serum insulin-like growth factor 1, Hematemesis, Hype... |
OMIM:301068 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Werner Syndrome |
|
Premature graying of hair, Abnormality of retinal pigmentation, White forelock |
ORPHA:902 |
Carpenter Syndrome 2 |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Generalized non-motor (absence) seizu... |
OMIM:614976 |
Bardet-Biedl Syndrome 1 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal dystrophy,... |
OMIM:209900 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Prolonged prothrombin time... |
OMIM:613070 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Pointed helix, Abnormality of retinal pigmentation, Hydronephr... |
ORPHA:3380 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Hypothalamic gonadotropin-releasing hormone deficiency, Pigmentary retinopathy, Rod-cone dystroph... |
ORPHA:2235 |
Floating-Harbor Syndrome |
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Restlessness, Short stature, Impulsivity, Aggressive behavior, Cryptorchidism, Cochlear malformat... |
ORPHA:2044 |
Proteus Syndrome |
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Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h... |
ORPHA:744 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Abnormal vestibular function, Retinal pigment epithelial mottling, Sensorineural hearing impairme... |
OMIM:607459 |
Syndromic Diarrhea |
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Hypopigmentation of hair, Brittle hair, Short stature, Woolly hair, Abnormality of iron homeostas... |
ORPHA:84064 |
Mowat-Wilson Syndrome |
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Urinary incontinence, Uplifted earlobe, Asplenia, Vesicoureteral reflux, Conductive hearing impai... |
ORPHA:2152 |
Degcags Syndrome |
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Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Pr... |
OMIM:619488 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
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Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Congenital Disorder Of Glycosylation, Type It |
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Short stature, Growth delay, Prolonged prothrombin time, Delayed puberty, Recurrent otitis media |
OMIM:614921 |
Retinitis Pigmentosa 75 |
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Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Growth delay, Prolonged prothrombin time, Abnormality of hair texture |
ORPHA:88618 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Urinary incontinence, Uplifted earlobe, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis... |
ORPHA:261537 |
Yellow Fever |
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Abnormal bleeding, Renal insufficiency, Neutrophilia, Anuria, Excessive bleeding after a venipunc... |
ORPHA:99829 |
Holoprosencephaly-Craniosynostosis Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:2163 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility, Conductive hearing impairment |
OMIM:244400 |
Tyrosinemia, Type I |
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Gastrointestinal hemorrhage, Renal insufficiency, Splenomegaly, Melena, Nephrocalcinosis, Prolong... |
OMIM:276700 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Urinary incontinence, Uplifted earlobe, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis... |
ORPHA:261552 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Focal-onset seizure, Typical absence seizure, Optic disc coloboma, Renal hypoplasia, Atonic seizure |
OMIM:617157 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Retinopathy, Retinal pigment epithelial mottling, Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Hypospadias, Pigmentary retinopathy, Seizure, Chordee, Micropenis, Hearing impairment |
OMIM:309801 |
Enhanced S-Cone Syndrome |
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Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Leber Congenital Amaurosis 15 |
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Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Marburg Hemorrhagic Fever |
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Abnormal bleeding, Reticulocytosis, Lymphopenia, Renal insufficiency, Excessive bleeding after a ... |
ORPHA:99826 |
Infantile Liver Failure Syndrome 3 |
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Splenomegaly, Prolonged prothrombin time |
OMIM:618641 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Prolonged prothrombin time, Hepatosplenomegaly |
ORPHA:367 |
Joubert Syndrome 8 |
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Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Mitochondrial Trifunctional Protein Deficiency |
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Pigmentary retinopathy, Seizure |
ORPHA:746 |
Aromatase Deficiency |
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Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Lowry-Wood Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:1824 |
Retinoblastoma |
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Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Retinal c... |
ORPHA:790 |
Partial Androgen Insensitivity Syndrome |
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Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Membranoproliferative glomerulonephritis, Microcytic anemia, Thrombocytopenia, Splenomegaly, Mode... |
OMIM:619525 |
Chromosome 16Q12 Duplication Syndrome |
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Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Spondylocarpotarsal Synostosis Syndrome |
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Abnormality of retinal pigmentation, Mixed hearing impairment, Renal cyst, Sensorineural hearing ... |
OMIM:272460 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Pigmentary retinopathy, Myoglobinuria |
OMIM:609015 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hematochezia, Splenomegaly, Prolonged prothrombin time |
OMIM:613812 |
Cone-Rod Dystrophy 6 |
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Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Ramon Syndrome |
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Optic disc pallor, Seizure, Pigmentary retinopathy, Hearing impairment |
OMIM:266270 |
Alagille Syndrome 1 |
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Multiple small medullary renal cysts, Chorioretinal atrophy, Renal hypoplasia, Stage 5 chronic ki... |
OMIM:118450 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Hematochezia, Prolonged prothrombin time |
OMIM:214950 |
Fanconi Anemia, Complementation Group A |
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Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Hearing impairment |
OMIM:227650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Pigmentary retinopathy, Optic atrophy, Retinal dysplasia |
OMIM:613154 |
Hermansky-Pudlak Syndrome 10 |
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Bilateral tonic-clonic seizure, Albinism, Splenomegaly, Ocular albinism, EEG abnormality, Low-set... |
OMIM:617050 |
Retinitis Pigmentosa 74 |
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Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Isolated Biliary Atresia |
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Splenomegaly, Prolonged prothrombin time, Seizure, Dark yellow urine |
ORPHA:30391 |
Lowry-Wood Syndrome |
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Pigmentary retinopathy |
OMIM:226960 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Prolonged prothrombin time |
OMIM:617049 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Abnormal bleeding, Gastrointestinal hemorrhage, Ketonuria, Increased urinary glycerol, Hepatosple... |
ORPHA:247598 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... |
ORPHA:1969 |
Alström Syndrome |
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Urinary incontinence, Functional abnormality of the bladder, Elevated circulating thyroid-stimula... |
ORPHA:64 |
Acute Liver Failure |
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Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Seizure, Prolonged proth... |
ORPHA:90062 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Seizure, Prolonged prothrombin time, Oroticaciduria |
OMIM:311250 |
46,Xy Partial Gonadal Dysgenesis |
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Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Infantile Nephropathic Cystinosis |
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Hyperphosphaturia, Renal tubular dysfunction, Pigmentary retinopathy, Aminoaciduria, Renal Fancon... |
ORPHA:411629 |
Wiedemann-Rautenstrauch Syndrome |
|
Posteriorly rotated ears, Hypospadias, Optic disc hypoplasia, Hearing abnormality, Wide penis, Op... |
ORPHA:3455 |
Atypical Werner Syndrome |
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Abnormality of retinal pigmentation, Abnormal circulating leptin concentration, Patchy hypo- and ... |
ORPHA:79474 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Splenomegaly, Prolonged prothrombin time, Polycythemia |
ORPHA:309854 |
Night Blindness, Congenital Stationary, Type 1B |
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Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Male infertility, Low-set, posteriorly rotated ears, Streak ovary, Unilateral cryptorchidism, Bil... |
ORPHA:1772 |
Primary Sclerosing Cholangitis |
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Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal... |
ORPHA:171 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Polyuria, Pigmentary retinopathy, Low-set ears, Tinnitus |
OMIM:606721 |
X-Linked Recessive Ocular Albinism |
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Freckling, Giant melanosomes in melanocytes, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
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Sensorineural hearing impairment, Ocular albinism |
ORPHA:1000 |