Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
adaptor-related protein complex 3, delta 1 subunit
Synonyms:
mBLVR1,  Bolvr

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ap3d1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ap3d1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hermansky-Pudlak Syndrome 10
Neutropenia, Ocular albinism, Bilateral tonic-clonic seizure, Macrotia, Albinism, Splenomegaly, E... OMIM:617050
X-Linked Recessive Ocular Albinism
Freckling, Iris hypopigmentation, Giant melanosomes in melanocytes, Ocular albinism ORPHA:54
Ocular Albinism With Late-Onset Sensorineural Deafness
Sensorineural hearing impairment, Ocular albinism ORPHA:1000

The table below shows human diseases predicted to be associated to Ap3d1 by phenotypic similarity.

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