| Intellectual Developmental Disorder, Autosomal Dominant 3 |
|
Seizure |
OMIM:612580 |
| Glycosylphosphatidylinositol Biosynthesis Defect 16 |
|
Seizure |
OMIM:617816 |
| Intellectual Developmental Disorder, X-Linked 96 |
|
Seizure |
OMIM:300802 |
| Intellectual Developmental Disorder, X-Linked 88 |
|
Seizure |
OMIM:300852 |
| 15q13.3 microdeletion syndrome |
|
Seizure |
DECIPHER:74 |
| Epilepsy, Nocturnal Frontal Lobe, 3 |
|
Seizure |
OMIM:605375 |
| Intellectual Developmental Disorder, Autosomal Dominant 10 |
|
Seizure |
OMIM:614256 |
| Kifafa Seizure Disorder |
|
Seizure |
OMIM:245180 |
| Intellectual Developmental Disorder, Autosomal Recessive 10 |
|
Seizure |
OMIM:611096 |
| Epilepsy, Benign Occipital |
|
EEG abnormality, Seizure |
OMIM:132090 |
| Epilepsy, Reading |
|
EEG abnormality, Seizure |
OMIM:132300 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, EEG with generalized epilepti... |
OMIM:616187 |
| Gombo Syndrome |
|
Microcephaly, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly |
OMIM:233270 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... |
OMIM:613608 |
| Angelman syndrome (Type 2) |
|
Seizure, Truncal ataxia, EEG abnormality |
DECIPHER:54 |
| Angelman syndrome (Type 1) |
|
Seizure, Truncal ataxia, EEG abnormality |
DECIPHER:4 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... |
OMIM:601068 |
| Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:615006 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... |
OMIM:619964 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus |
ORPHA:22 |
| Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
Seizure, Spasticity, Ataxia, EEG abnormality |
OMIM:619228 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxi... |
OMIM:616230 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... |
OMIM:615127 |
| Megalencephaly With Dysmyelination |
|
Seizure, Spasticity, Ataxia, EEG with photoparoxysmal response |
OMIM:249240 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,... |
OMIM:614322 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
| Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
| Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
| Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Abnormal cerebellum morphology, Myoclonic s... |
OMIM:162350 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse... |
OMIM:611726 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
| Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... |
OMIM:614018 |
| Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... |
OMIM:605021 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... |
OMIM:254800 |
| Spastic Ataxia With Congenital Miosis |
|
Spastic ataxia, Seizure, Ataxia, Hemiplegia/hemiparesis |
ORPHA:1182 |
| Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Multi... |
OMIM:617904 |
| Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... |
OMIM:618141 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
| Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... |
OMIM:616346 |
| Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead... |
OMIM:616409 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
| Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi... |
OMIM:613855 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... |
OMIM:618587 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Unsteady gait, Seizure, EEG abnormality, Truncal ataxia |
OMIM:608636 |
| Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w... |
ORPHA:599373 |
| Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy, EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic s... |
OMIM:617643 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, EEG with spik... |
OMIM:607682 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Megalencephaly, Postaxial hand polydactyly, Hydrocephalus, Thick corpus callosum, Mac... |
OMIM:615938 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Clumsiness, EEG abnormality, Focal impaired a... |
OMIM:610003 |
| Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atyp... |
OMIM:617113 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ... |
OMIM:618090 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Optic atrophy, Gen... |
OMIM:617810 |
| Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic... |
ORPHA:725 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Giant som... |
OMIM:618876 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythm... |
OMIM:613722 |
| Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizu... |
OMIM:301020 |
| Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Falls, Myoclonus, Atypical ... |
ORPHA:2382 |
| Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Abnormal posturin... |
OMIM:619565 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| 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 |
| Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
| Epilepsy, Nocturnal Frontal Lobe, 1 |
|
Focal-onset seizure, Seizure |
OMIM:600513 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, EEG abnormality, Chiari t... |
OMIM:617836 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Seizure, EEG abnormality, Myoclonus, Loss of ambulation |
OMIM:600143 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Ataxia, EEG with generalized polyspikes, Optic atrophy, Seizure, Generalized ... |
OMIM:614706 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
| Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Bilateral tonic-clonic seizure, Lower limb spasticity |
OMIM:619639 |
| Episodic Ataxia, Type 9 |
|
Cerebellar edema, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status ... |
OMIM:618924 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
| Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, EEG with focal spikes, Focal cloni... |
ORPHA:140927 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ataxia, Optic atrophy, Seizure, EEG abnormality, Hypertonia, Olivopontocerebellar atrophy, Hearin... |
ORPHA:2732 |
| Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Ataxia |
OMIM:617709 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal EEG dischar... |
ORPHA:263516 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre... |
OMIM:300423 |
| Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
| Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... |
OMIM:254770 |
| Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, EEG with frontal foca... |
ORPHA:98818 |
| Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... |
OMIM:619970 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski... |
OMIM:615362 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking |
OMIM:619191 |
| Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... |
OMIM:615369 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... |
OMIM:245570 |
| Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... |
OMIM:616981 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Seizure, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
| Developmental And Epileptic Encephalopathy 47 |
|
Cerebellar atrophy, Optic disc pallor, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Foc... |
OMIM:617166 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p... |
OMIM:608105 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Hyp... |
OMIM:616139 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... |
OMIM:619742 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
| Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... |
ORPHA:320401 |
| Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... |
OMIM:617389 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... |
ORPHA:36387 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
EEG abnormality, Bilateral tonic-clonic seizure, Involuntary movements, Status epilepticus |
OMIM:617171 |
| Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... |
ORPHA:98820 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... |
OMIM:607876 |
| Yoon-Bellen Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, I... |
OMIM:619701 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ... |
OMIM:204300 |
| Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Speech apraxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with fo... |
ORPHA:163721 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements |
OMIM:618425 |
| 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 |
| Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Hypsarrhythmia, Myoclonic seizure, S... |
OMIM:226750 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
| Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... |
OMIM:616645 |
| Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
| Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Bilateral tonic-clonic seizure, Episodic hemiplegia, Episodic quadriplegia |
OMIM:104290 |
| Cortical Malformations, Occipital |
|
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Unsteady gait, Seizure, Large earlobe,... |
OMIM:620317 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
| Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Spastic paraple... |
ORPHA:101007 |
| Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
| Familial Infantile Myoclonic Epilepsy |
|
Interictal EEG abnormality, Cerebellar atrophy, EEG with focal spike waves, Bilateral tonic-cloni... |
ORPHA:352582 |
| Progressive Myoclonic Epilepsy Type 1 |
|
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... |
ORPHA:308 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
| Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... |
OMIM:613721 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Inability to wal... |
ORPHA:330050 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619157 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
| Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S... |
OMIM:617350 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... |
ORPHA:363710 |
| Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... |
OMIM:617391 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... |
ORPHA:79137 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Preaxial polydactyly, Spina bifida... |
ORPHA:64754 |
| Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... |
ORPHA:101010 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus, Hearing impairment |
OMIM:159800 |
| Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
| Developmental And Epileptic Encephalopathy 98 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons... |
OMIM:619605 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst suppression, Status epilepticus, G... |
OMIM:266100 |
| Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Limb ataxia, Gait ataxia |
OMIM:117210 |
| Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Developmental And Epileptic Encephalopathy 93 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetr... |
OMIM:618012 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... |
ORPHA:53583 |
| Developmental And Epileptic Encephalopathy 45 |
|
Seizure, Ataxia, Hypsarrhythmia |
OMIM:617153 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... |
ORPHA:100988 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
| Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... |
ORPHA:101071 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure |
OMIM:617863 |
| 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 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, EEG... |
ORPHA:86909 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
| Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Optic atrophy, Multifocal epileptiform discharges, Choreoathetosi... |
OMIM:609056 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... |
ORPHA:95434 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spasti... |
ORPHA:313772 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Chorea, Seizure, Athetosis, Focal impaired awareness seiz... |
ORPHA:382 |
| Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... |
OMIM:617711 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Juvenile Absence Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... |
ORPHA:1941 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Polydactyly, Talipes equinova... |
OMIM:613885 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia |
OMIM:617862 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia... |
ORPHA:529665 |
| Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Condu... |
OMIM:617976 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizu... |
OMIM:271980 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearin... |
ORPHA:2589 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Tremor, Chorea, Babinsk... |
OMIM:618093 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Seizure |
OMIM:615705 |
| Mmep Syndrome |
|
Microphthalmia, Split foot, Triphalangeal thumb, Microcephaly |
ORPHA:3434 |
| 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 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t... |
ORPHA:93952 |
| Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Seizur... |
OMIM:611603 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
| Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus |
OMIM:208700 |
| Unilateral Focal Polymicrogyria |
|
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... |
ORPHA:268947 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
| Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... |
OMIM:607745 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
| Developmental And Epileptic Encephalopathy 56 |
|
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, Generalized non-m... |
OMIM:617665 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Cerebral cortical atrophy, Micromelia, Microcephaly |
ORPHA:291 |
| Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic... |
OMIM:619913 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... |
OMIM:612736 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... |
OMIM:619000 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Seizure, Ataxia, Apraxia |
ORPHA:85338 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... |
OMIM:600384 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Focal-onset seizure, Chorea, EEG abnormality, Convulsive status epilepticus |
OMIM:618760 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Camos Syndrome |
|
Ataxia, Optic atrophy, Spasticity, Seizure, Aplasia/Hypoplasia of the cerebellum, Progressive ext... |
ORPHA:83472 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls |
OMIM:203740 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:618497 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Microcephaly, Talipes equinovarus, Cerebellar hypoplasia, Microphthalmia, Age... |
OMIM:616570 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, D... |
OMIM:614487 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Hypoplasia of the corpus callosu... |
OMIM:164180 |
| Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... |
ORPHA:139431 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor... |
OMIM:617493 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Bilateral tonic-clonic seizure, Parkinsonism, Abnormal cerebellum morphology, Optic atrophy, Seiz... |
OMIM:204200 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic se... |
OMIM:618917 |
| Infantile Cerebellar-Retinal Degeneration |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Sensorineural he... |
OMIM:614559 |
| Alpers-Huttenlocher Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... |
ORPHA:726 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Gait ataxia, Seizure, EEG with focal spikes, ... |
ORPHA:488635 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) seizure, E... |
OMIM:609446 |
| Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia |
OMIM:616341 |
| Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Torticollis, Bilateral tonic-clonic seizure, Seizure, EEG abnormality, Myoclonic absence seizure |
OMIM:612621 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus |
OMIM:125370 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Abnormal nervous system ... |
OMIM:256731 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Sensorineural he... |
OMIM:618170 |
| Acalvaria |
|
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of... |
ORPHA:945 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
| Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
High-frequency sensorineural hearing impairment, Waddling gait, Abnormal lower motor neuron morph... |
ORPHA:2590 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, Sp... |
OMIM:619301 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618470 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of the corpus callosum, Cort... |
OMIM:615771 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Seizure, Pseudobulbar paralysis, Focal impaired awareness seizure... |
ORPHA:208441 |
| Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Seizure, EEG abnormality, Myoclonus, Difficulty walking, Spasticity |
OMIM:617829 |
| Frontal Encephalocele |
|
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... |
ORPHA:1931 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ... |
OMIM:605259 |
| Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
| Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Seizure, EEG with focal spikes, Ataxia, Cerebellar hypoplasia |
OMIM:616917 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... |
OMIM:619911 |
| Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... |
OMIM:619606 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... |
OMIM:211960 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus |
OMIM:619065 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy |
OMIM:615957 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se... |
OMIM:617105 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Spastic para... |
OMIM:612164 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Postaxial foot polyda... |
ORPHA:139471 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Congenital Disorder Of Glycosylation, Type Iaa |
|
Appendicular spasticity, Optic disc pallor, Bilateral tonic-clonic seizure, Pseudobulbar paralysi... |
OMIM:617082 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Limb ataxia, Dysmetria, Gait ataxia... |
OMIM:616291 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, EEG with persistent abnormal rhythmic activity, Loss of ambulation, Ataxia, Clumsiness, I... |
ORPHA:206443 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Chorea, EEG abnormality, Seizure, Focal impaired awareness seizur... |
OMIM:613970 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
| Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Meningocele,... |
ORPHA:3265 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capitate-hamate fusion... |
OMIM:206920 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... |
OMIM:610140 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
| Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Interictal epileptiform activity, Bilateral tonic-clonic seizure with gene... |
ORPHA:1929 |
| Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o... |
ORPHA:101070 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Cerebellar atrophy, Atax... |
OMIM:607250 |
| Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Microcephaly |
OMIM:251220 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, EEG with generalized slow activity grade 4, Ataxia, Typical absence seizure, S... |
ORPHA:168491 |
| Sarcosinemia |
|
Ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Tetraparesis, Infantile sensorineural hear... |
ORPHA:3129 |
| Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
| Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... |
OMIM:601764 |
| Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Abnormal pinna morphology, Infantile spasms, Tonic seizure, Hypop... |
OMIM:615859 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of... |
ORPHA:3268 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Sensorineural hearing impairment, Seizure, Myoclonus, Generalized myoclonic seizure, Spas... |
OMIM:545000 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... |
OMIM:615297 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... |
ORPHA:1528 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... |
OMIM:619028 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Focal motor status epilepticus, Focal-onset seizure, Chorea, Poor coordination, Seizure, ... |
OMIM:619150 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly |
OMIM:213010 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... |
OMIM:612691 |
| Severe Canavan Disease |
|
Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Optic atrophy, Seizure, Decereb... |
ORPHA:314911 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly |
ORPHA:238446 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia |
ORPHA:294975 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, Optic atr... |
ORPHA:457205 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Ravine Syndrome |
|
Spasticity, Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo... |
ORPHA:1945 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl... |
OMIM:619302 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
| Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Bilateral tonic-clonic seizure, Involuntary movements, Multifocal epileptiform discharges, Seizur... |
ORPHA:209370 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia, Microcephaly |
OMIM:614082 |
| Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
| Peho-Like Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Hypsarrhythmia, Status epilept... |
OMIM:617507 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, Infantile spasms, Inability to walk, Optic atrophy, Spastic tetraplegia, Hypsarrhythmia, ... |
OMIM:618174 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, EEG abnormality, Hemiparesis, Myoclon... |
OMIM:606777 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Spastic tetraplegia, Neonatal ... |
OMIM:618237 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Unsteady gait, G... |
ORPHA:485350 |
| Cln5 Disease |
|
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Abnormal central motor function, Tremor, F... |
ORPHA:228360 |
| Developmental And Epileptic Encephalopathy 61 |
|
Bilateral tonic-clonic seizure with focal onset, Optic atrophy, Seizure, Focal clonic seizure, Lo... |
OMIM:617933 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Babinski sign, H... |
OMIM:301058 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Sensorineural heari... |
ORPHA:464282 |
| Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait |
OMIM:615031 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Postaxial h... |
OMIM:611134 |
| Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, ... |
ORPHA:101112 |
| Spastic Paraplegia 82, Autosomal Recessive |
|
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Babinski sign, Optic ... |
OMIM:618770 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Temporal cortical ... |
OMIM:615665 |
| Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Chorea, Myoclonus, Head tremor, Aprax... |
OMIM:620158 |
| Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Impaired tandem ... |
OMIM:117360 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Lissencephaly 8 |
|
Occipital encephalocele, Microcephaly, Hypoplasia of the brainstem, Talipes equinovarus, Hypoplas... |
OMIM:617255 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
| Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure, Cerebellar vermis atrophy |
OMIM:618501 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebella... |
OMIM:218670 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... |
OMIM:619428 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... |
OMIM:618856 |
| Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... |
ORPHA:2839 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Narrow femoral neck, Congenital hip dislocation, Delayed phalangeal epiphyseal ossification, Long... |
OMIM:603546 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo... |
OMIM:617290 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Megalencephaly, Hydrocephalus, Progressive macrocephaly, Polydactyly, Microphthalmia,... |
OMIM:602501 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
| Sulfite Oxidase Deficiency, Isolated |
|
Bilateral tonic-clonic seizure, Ataxia, Multifocal epileptiform discharges, Choreoathetosis, Hype... |
OMIM:272300 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Hypsarrhythmia, Myoclonic sei... |
OMIM:619877 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndactyly, Hypoplasia ... |
ORPHA:166024 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei... |
ORPHA:98811 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Microcephaly, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Episodic Ataxia Type 3 |
|
Episodic ataxia, Seizure, Hemiplegia, Tinnitus |
ORPHA:79135 |
| Hydrolethalus |
|
Anophthalmia, Absent septum pellucidum, Micromelia, Postaxial hand polydactyly, Hydrocephalus, An... |
ORPHA:2189 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Seizure, Positive Romberg ... |
OMIM:618088 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:309530 |
| Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dysmetria, Gait ataxia, P... |
ORPHA:254881 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Abnormal left ventricular function, Ca... |
OMIM:613155 |
| Seckel Syndrome 2 |
|
Microcephaly, Heart murmur, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Microphthalmia |
OMIM:606744 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Absent septum pellucidum, Optic nerve hypoplasia, Polydactyly, Short finge... |
OMIM:182230 |
| Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Abnormal cerebellum morphology, O... |
ORPHA:280234 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, Hemiparesis, Sei... |
OMIM:604317 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
| Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent fall... |
OMIM:617691 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
| Schisis Association |
|
Encephalocele, Spina bifida, Micromelia, Microcephaly, Anencephaly |
ORPHA:63862 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Cogwheel rigidity, ... |
OMIM:619725 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... |
ORPHA:206448 |
| Lafora Disease |
|
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... |
ORPHA:501 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Cln3 Disease |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Foc... |
ORPHA:228346 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Macrocephaly, Polydactyly, Microcephaly |
OMIM:617119 |
| Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Bilateral tonic-c... |
OMIM:618067 |
| Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Cerebellar... |
OMIM:620028 |
| Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Sensorineural... |
ORPHA:79097 |
| Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... |
OMIM:602481 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with multifocal slow ac... |
ORPHA:289266 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... |
OMIM:616204 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic para... |
ORPHA:329308 |
| Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Unsteady ga... |
ORPHA:98761 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bi... |
ORPHA:1327 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... |
OMIM:616127 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
| Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... |
OMIM:603516 |
| Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly |
OMIM:614830 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p... |
OMIM:616171 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... |
OMIM:619616 |
| Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 mon... |
OMIM:618412 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia |
ORPHA:210571 |
| New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Cerebellar edema, Seizure precipitated by febrile infection, Bilatera... |
ORPHA:363558 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... |
ORPHA:98795 |
| Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Choreoa... |
ORPHA:561854 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Seizure, Ataxia, Cochlear degeneration |
ORPHA:3233 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius, Microcephaly |
ORPHA:3469 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... |
ORPHA:314978 |
| Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Seizure, Sensorineural hearing impairment, Bilateral tonic-clonic seizure |
OMIM:609924 |
| Hartsfield Syndrome |
|
Encephalocele, Split hand, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Ap... |
ORPHA:2117 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... |
OMIM:128100 |
| Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:208447 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Cerebellar atrophy, Bilateral tonic-clonic seizure... |
ORPHA:79264 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Bilateral tonic-clonic seizure, Abnormality of extrapyramidal motor function, Fasciculations, Gai... |
ORPHA:275864 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Macrocephaly, Tapered finger |
OMIM:618725 |
| Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Microphthalmia, Type II lissencephaly |
ORPHA:324416 |
| Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hy... |
OMIM:136760 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Macrocephaly, Metaphyseal c... |
OMIM:300863 |
| Temtamy Syndrome |
|
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t... |
ORPHA:1777 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Abnormal posturing, Dystonia |
OMIM:304700 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Inability to walk, Multifocal epileptiform discharges, EEG with g... |
ORPHA:488613 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Sh... |
ORPHA:1120 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical... |
ORPHA:65759 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure... |
OMIM:616281 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:274270 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:278780 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... |
OMIM:619338 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Microcephaly, ... |
ORPHA:370010 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Microcephaly, Hydr... |
ORPHA:1908 |
| Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Gait disturbance, Upper ... |
ORPHA:457240 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Split foot, Microcephaly |
OMIM:601349 |
| Brain Small Vessel Disease 2 |
|
Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraplegia |
OMIM:614483 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Seiz... |
OMIM:615716 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly, Microcephaly |
OMIM:619981 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, ... |
ORPHA:899 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Rigidity, Abnormal p... |
ORPHA:199354 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clumsiness |
ORPHA:158 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Microcephaly |
ORPHA:2528 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly |
ORPHA:2440 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Cofs Syndrome |
|
Cerebral calcification, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the cerebell... |
ORPHA:1466 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Inability to walk, Cerebellar gliosis, ... |
ORPHA:79243 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Finger syndactyly, Cortical dysplasia, Toe syndactyly |
ORPHA:261272 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Hypomelanosis Of Ito |
|
Syndactyly, Microcephaly, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Macroce... |
OMIM:300337 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease |
OMIM:600251 |
| Trisomy 1Q |
|
Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly,... |
ORPHA:261344 |
| Adams-Oliver Syndrome 3 |
|
Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ... |
OMIM:614814 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Long Qt Syndrome 8 |
|
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, EEG abnormali... |
OMIM:610042 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Bilateral Polymicrogyria |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, ... |
ORPHA:268940 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Sandal gap, Microcephaly, Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Mic... |
OMIM:300887 |
| Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms |
ORPHA:250972 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
| Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... |
ORPHA:157941 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized epileptiform disc... |
OMIM:619827 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... |
OMIM:619091 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
| Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
| Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... |
ORPHA:1942 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Cloni... |
OMIM:619580 |
| Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Optic atrophy, Multifocal epileptiform discharge... |
OMIM:271900 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Overlapping toe, Microcephaly, Perisylvian polymicrogyria, Cerebral... |
OMIM:600118 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Spina bifida, Macrocephaly, Large ha... |
ORPHA:3219 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Involuntary movements, Infantile sp... |
OMIM:618325 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:620200 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Chorea, Multifocal epileptiform discharges, O... |
OMIM:616672 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... |
ORPHA:101085 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Megalencephaly, Preaxial hand polydactyly, L... |
OMIM:601707 |
| Fanconi Anemia, Complementation Group R |
|
Tethered cord, Microcephaly, Absent thumb, Hydrocephalus, Microphthalmia, Radial dysplasia |
OMIM:617244 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Holoprosencephaly, Microcephaly |
OMIM:147250 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
| Spinocerebellar Ataxia Type 36 |
|
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Dysmetria, Limb ataxia, H... |
ORPHA:276198 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Thyrocerebroretinal Syndrome |
|
Ataxia, Sensorineural hearing impairment, Slurred speech, Seizure, Myoclonus |
OMIM:274240 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Megalencephaly, Microceph... |
OMIM:600325 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Dysto... |
ORPHA:225147 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Lissencephaly,... |
OMIM:616038 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Chorea, Babinski sign, Cho... |
OMIM:618451 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... |
OMIM:617988 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Involuntary movements, Increased thet... |
ORPHA:98784 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, ... |
OMIM:251270 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Exaggerated startle respon... |
OMIM:616881 |
| Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot |
DECIPHER:46 |
| Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
| Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Bilateral tonic-clonic seizure, Tonic seizure, Hypsarrhythmia, Myoclonic seizure, Focal impaired ... |
OMIM:619983 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Tremor, Inability to walk, Sensorineural hearing impairment,... |
ORPHA:52368 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... |
OMIM:607361 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Agenesis of co... |
OMIM:207950 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... |
ORPHA:163966 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... |
OMIM:615181 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
| Developmental And Epileptic Encephalopathy 79 |
|
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... |
OMIM:618559 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Megalencephaly, Abnormally large globe, Hydrocephalus, Thick corpus callos... |
OMIM:603387 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Cerebral hemorrhage, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short ... |
OMIM:300049 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, Short toe, Deep palmar crease, Short finger, Primary microcephaly, Pr... |
ORPHA:487825 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Microcephaly |
OMIM:300915 |
| Trisomy 13 |
|
Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle ... |
ORPHA:3378 |
| Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Dandy-Walker malformation |
OMIM:614465 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Hy... |
OMIM:157900 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Microcephaly, Cubitus valgus, Camptodactyly, Microphthalmia, Thin corpus ... |
OMIM:619694 |
| Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
| Dk1-Cdg |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal epileptiform di... |
ORPHA:91131 |
| Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Hypertonia, Ne... |
OMIM:615501 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... |
OMIM:613153 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Macrocephaly, Short palm, Clinodactyly o... |
ORPHA:3210 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with focal onset, E... |
ORPHA:163681 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Clonus, Incoordina... |
ORPHA:480864 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... |
ORPHA:1215 |
| Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Microcephaly, Hydrocephalus, Cerebral atrophy, Absent distal pha... |
OMIM:614219 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:77298 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
| Pierpont Syndrome |
|
Microcephaly, Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, Pr... |
OMIM:602342 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Triceps aplasia, Patellar aplasia, Hypopl... |
OMIM:161200 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Diffuse cerebral atrophy, Arachnodactyly, Broad hallux, Proximal placement of thum... |
OMIM:613776 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,... |
ORPHA:93267 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con... |
OMIM:618914 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Foc... |
OMIM:619854 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
| Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... |
OMIM:300607 |
| Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure,... |
ORPHA:1934 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Interictal EEG abnormality, Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms,... |
ORPHA:544503 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... |
OMIM:617600 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Facia... |
OMIM:617281 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
| Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Hypertension, Short palm |
ORPHA:79094 |
| Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Macrocephaly |
OMIM:300804 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Microcephaly, Adducted thumb, Flared metaphysis, Hip... |
OMIM:610758 |
| Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... |
OMIM:183086 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5... |
OMIM:274000 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... |
OMIM:614575 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive mic... |
OMIM:615249 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, C... |
ORPHA:2092 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Hypoplasia o... |
OMIM:607131 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Microcephaly, Spina b... |
ORPHA:99776 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Bilateral tonic-clonic seizure, Gait imbalance |
OMIM:618120 |
| Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Microcephaly, Preaxial hand polydactyly, P... |
ORPHA:564 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia |
ORPHA:369840 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Broad hallux, Overlapping toe, Abnormality of the hand, Optic nerve hypopla... |
ORPHA:508498 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
| Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
| Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... |
OMIM:109400 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Agenesis of cerebellar vermis,... |
OMIM:614815 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hemiparesis, Progressive sensorineural hearing impairment, Bilateral tonic-clonic seizure, Bilate... |
OMIM:540000 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe... |
OMIM:620292 |
| Monosomy 5P |
|
Finger syndactyly, Small hand, Microcephaly |
ORPHA:281 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Postaxial poly... |
OMIM:605627 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Bilateral tonic-cl... |
ORPHA:171680 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Absent septum pellucidum, Aplastic clavicle, Abn... |
ORPHA:2538 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Clumsiness, Seizure, Mac... |
OMIM:300558 |
| Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi... |
OMIM:600721 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Portal hypertension... |
ORPHA:974 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Optic atrophy... |
ORPHA:395 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Postaxial polydactyly... |
OMIM:614424 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... |
OMIM:614175 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Sensorineural hearing impair... |
ORPHA:457351 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... |
OMIM:616973 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Spasticity, Protruding ear, Seizure, L... |
ORPHA:481152 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Posteriorly rotated ears... |
OMIM:618143 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia, Microcephaly |
OMIM:616910 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Spina bifida |
ORPHA:2345 |
| Diabetic Embryopathy |
|
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Aplasi... |
ORPHA:1926 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand |
OMIM:619339 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short foot, Agenesis of cor... |
ORPHA:264200 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
| D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Sensorineural hearing impairment, Spastic... |
OMIM:220120 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
| Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... |
ORPHA:64280 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... |
OMIM:618877 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Bilateral tonic-clonic seizure, Hearing impairment |
OMIM:616351 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Protruding ear, Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Microcephaly, Aqueductal stenosis, Humeroradial synostos... |
OMIM:251230 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Porencephalic cyst, Cerebral atrophy, Hand polydactyly, Fo... |
OMIM:258860 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Hydranencephaly, Spina bifida, Microcephaly, Myelomeningocele, Porencepha... |
ORPHA:1393 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus, Cerebral calcification, Microcephaly |
ORPHA:858 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure |
OMIM:301076 |
| Trisomy 18 |
|
Camptodactyly of finger, Spina bifida, Microcephaly, Postaxial hand polydactyly, Anencephaly, Apl... |
ORPHA:3380 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor ... |
OMIM:615398 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Lower limb spasticity, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxi... |
OMIM:617193 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... |
ORPHA:63259 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand |
ORPHA:2547 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hydrocephalus, Hand polydactyly, C... |
ORPHA:60040 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Microcephaly |
OMIM:610756 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Microphthalmia |
ORPHA:85284 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Aganglionic megacolon, Inability to walk, Sensorineural hearing i... |
OMIM:614207 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Seizure, Athetosis, Focal imp... |
ORPHA:369929 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Bilateral tonic-clonic seizure |
OMIM:240900 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Hip dis... |
ORPHA:3412 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, ... |
OMIM:614833 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... |
OMIM:617523 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
| Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response, Bilateral tonic-clonic seizure, Ataxia, Im... |
OMIM:268800 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation of finger, Mitral... |
ORPHA:1101 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Spasticity, Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:618235 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Calcaneovalgus deformity, Agenesis of corpus callosum, Dandy-Walker malformation, Fin... |
OMIM:256520 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Relative macrocephaly, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia... |
ORPHA:363417 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Microcephaly, Preaxial polydactyly, Bilateral talipes equ... |
OMIM:618142 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Syringomyelia, Cerebral cortical atrophy, Congenital bilateral hip dislocation |
ORPHA:404451 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Microcephaly, Polydactyly, Macrocephaly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
| Temtamy Syndrome |
|
Aortic regurgitation, Hip dislocation, Thick corpus callosum, Short 2nd toe, Talipes equinovarus,... |
OMIM:218340 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... |
OMIM:619260 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Rocker bottom foot, Coxa valga, Microcephaly, Basal ganglia calcificati... |
OMIM:214150 |
| Bardet-Biedl Syndrome 19 |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Hypoplasia of the ... |
OMIM:615996 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Uplifted earlob... |
ORPHA:364028 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
| Neuromuscular Oculoauditory Syndrome |
|
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Infantile spasms, Decreased nerve condu... |
OMIM:618733 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Microcephaly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly |
ORPHA:1445 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl... |
OMIM:305600 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Polydactyly |
OMIM:616490 |
| Holoprosencephaly |
|
Encephalocele, Anophthalmia, Microcephaly, Hydrocephalus, Spinal cord tumor, Aplasia/Hypoplasia o... |
ORPHA:2162 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia |
ORPHA:195 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Primary microcephaly, Hypoplasia of the corpus callosum, Camptodactyly, Micro... |
OMIM:618804 |
| Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Finger clinodactyly, Absent distal... |
ORPHA:1692 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum |
ORPHA:99742 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| 3P25.3 Microdeletion Syndrome |
|
Cerebral white matter atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapere... |
ORPHA:435638 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
| Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... |
OMIM:617926 |
| Ritscher-Schinzel Syndrome 4 |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Chorea, Athetosis, Cerebellar hypopl... |
OMIM:619435 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Secondary microcephaly, Cerebellar hypoplasia |
OMIM:613730 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia |
OMIM:617916 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ... |
ORPHA:3240 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Optic neuropathy, Poor coordination, Abnormal autonomic nervous s... |
ORPHA:478029 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of t... |
ORPHA:370959 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Impaired tactile sensation, Pain insensitivity, Bilateral tonic-clonic seizure, Multifocal epilep... |
ORPHA:453510 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Microcephaly, Aniridia, Biparietal narrowing, Macrocephaly, Camptodac... |
ORPHA:251038 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... |
OMIM:619835 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Ataxia, Dysmetria, Titubation |
OMIM:619405 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Hydrocephalus, Polydacty... |
ORPHA:59315 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... |
ORPHA:240085 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pain insensitivity, Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Inability to w... |
OMIM:620224 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Abnormal posturing, Opisthotonus, Spasticity, Frequent falls |
ORPHA:216866 |
| Martsolf Syndrome 1 |
|
Short metacarpal, Cardiac arrest, Microcephaly, Metatarsus adductus, Slender ulna, Short toe, Ost... |
OMIM:212720 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
| Monosomy 18P |
|
Microcephaly, Hypertension, Holoprosencephaly, Microphthalmia, Brachydactyly |
ORPHA:1598 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Cerebral cortical atrophy, Camptodactyly of finger |
ORPHA:48431 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Global ... |
OMIM:614225 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function, Cerebellar hypoplasia |
OMIM:618805 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Absent radius, Aplasia of ... |
ORPHA:1352 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Microcephaly, Hydrocephalus, Hip dysplasia, Hypoplasia of th... |
OMIM:616362 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... |
ORPHA:79263 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Diffuse cerebral atrophy, Bilateral microphthalmos, Microcephaly |
ORPHA:77299 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Tricuspid regurgitation, Abnormality of the palmar creases, Secondary microcephaly |
OMIM:618652 |
| Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... |
ORPHA:2369 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping shoulders, First degree atriovent... |
ORPHA:392 |
| Joubert Syndrome 33 |
|
Syndactyly, Macrocephaly |
OMIM:617767 |
| Biotinidase Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Optic neuropathy, Sensorineural hearing... |
ORPHA:79241 |
| Frontorhiny |
|
Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus cal... |
ORPHA:391474 |
| Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Hypoplasia of the ... |
OMIM:611560 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intention tremor |
OMIM:610185 |
| Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the cor... |
OMIM:614643 |
| Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Lissencephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum |
OMIM:614583 |
| Sirenomelia |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Opisth... |
OMIM:607483 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Postaxial hand po... |
OMIM:610829 |
| Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Ulnar bowing, Shorte... |
OMIM:619135 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Res... |
ORPHA:79139 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Microcephaly, Triphalangeal thumb, Sh... |
ORPHA:2994 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology, Microcephaly |
ORPHA:290 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... |
OMIM:619879 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Microcephaly |
OMIM:615284 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Porencephalic cyst, Flared met... |
OMIM:252100 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Brachydactyly |
OMIM:602361 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... |
ORPHA:309155 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
| De Sanctis-Cacchione Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Sensorineural hearing impairment, Babinski sign, Optic at... |
OMIM:278800 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Microcephaly, Sh... |
OMIM:619148 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb, Microcephaly |
OMIM:617883 |
| Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Macroce... |
ORPHA:3447 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Single transverse palmar crease, Microcephaly, Hypoplasia of the corpus callosum, M... |
OMIM:614105 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
| Warburg Micro Syndrome 3 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Inability to walk, Optic atrophy, Spastic ... |
OMIM:614222 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Microcephaly, Short first metatarsal, Short 5th toe, Prominent fingerti... |
OMIM:613684 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Posta... |
OMIM:264480 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Bilateral microphthalmos, Short foo... |
OMIM:607597 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Postaxial polydactyly, Tapered finger, Microcephaly, Genu valgum, Clinodactyly of... |
OMIM:619721 |
| Cerebrotendinous Xanthomatosis |
|
Abnormal pyramidal sign, Abnormal motor evoked potentials, Abnormal cerebellar peduncle morpholog... |
ORPHA:909 |
| Hallermann-Streiff Syndrome |
|
Abnormality of the hand, Microcephaly, Spina bifida, Metaphyseal widening, Telangiectasia, Slende... |
OMIM:234100 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Optic atrophy, Tetraplegia, Spasticit... |
ORPHA:496641 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Microcephaly, Hydrocephalus, Short foot, Hand polydactyly, ... |
ORPHA:250989 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... |
ORPHA:2788 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decreased nerve conduction... |
ORPHA:206436 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Broad hallux, Sandal gap, Microcephaly, 2-3 toe cutaneous syndactyly, Phthisis bulb... |
OMIM:300166 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti... |
OMIM:607323 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Global brain atrophy, Microcephaly |
OMIM:308350 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... |
OMIM:616640 |
| Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif... |
ORPHA:84 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Rhizomelia, Car... |
ORPHA:175 |
| Chronic Bilirubin Encephalopathy |
|
Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure, H... |
ORPHA:529808 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... |
OMIM:615474 |
| Acute Bilirubin Encephalopathy |
|
Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure, H... |
ORPHA:529799 |
| Neu-Laxova Syndrome |
|
Cerebral calcification, Absent septum pellucidum, Micromelia, Abnormal cortical gyration, Microce... |
ORPHA:2671 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
ORPHA:42 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... |
OMIM:607932 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Relative macrocephaly, Macrocephaly, Clinodactyly of the 5th finger, Microphthalmia, Cavum septum... |
OMIM:617306 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Camptodactyly of finger, Microcephaly, Cerebral atrophy, Hypoplasia... |
OMIM:616920 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u... |
ORPHA:163649 |
| Alternating Hemiplegia Of Childhood |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p... |
ORPHA:2131 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Focal clonic seizure, Low-set ears, Inten... |
OMIM:618381 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Spina bifida, Preaxial hand polydactyly, Abnormal hip... |
ORPHA:261318 |
| Stevenson-Carey Syndrome |
|
Hip dysplasia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Camptodactyly, Microphth... |
OMIM:611961 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly |
OMIM:619318 |
| Filippi Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous syndactyly, Finger c... |
OMIM:272440 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Aganglionic megacolon, Ataxia,... |
ORPHA:247262 |
| Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
| Joubert Syndrome 37 |
|
Microphthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Postaxial polyda... |
OMIM:619185 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Unsteady gait, Generalized non-motor (abse... |
OMIM:617798 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Sandal gap, Tapered finger |
ORPHA:1438 |
| Oculofaciocardiodental Syndrome |
|
Short thumb, Broad palm, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexion contracture of the 2... |
ORPHA:2712 |
| Pelger-Huet Anomaly |
|
Upper limb undergrowth, Macrocephaly, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short ... |
OMIM:169400 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Appendicular spasticity, Cerebral palsy, Bilateral tonic-clonic seizure, Cerebellar vermis hypopl... |
OMIM:620070 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
| Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ce... |
OMIM:277170 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Relative macrocephaly, Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, C... |
ORPHA:397590 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Hypop... |
OMIM:236500 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Buphthalmos, Hypoplasia of t... |
OMIM:616538 |
| Lopes-Maciel-Rodan Syndrome |
|
Tremor, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia, Spasticity |
OMIM:617435 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Proximal placement of thumb, Microcephaly, Spina bifida, Partial ag... |
OMIM:304050 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, G... |
OMIM:300912 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Overfolded helix, Bilateral tonic-clonic seizure |
OMIM:616083 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia, Subcortical white matter calcifications |
ORPHA:90322 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Arrhythmia, Bilateral single transverse palmar creases, Synostosis of carpal bones |
ORPHA:3191 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Microcephaly, Radioulnar synostosis, Hypoplasia of the brainstem, Talipes equinov... |
OMIM:248700 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Microcephaly, Deviation of t... |
ORPHA:464738 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Clubbing of fingers, Tachycardia, Internal hemorrhage |
ORPHA:335 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent septum pellucidum, Absent thumb, Microcephaly, Short thumb, Hypopl... |
OMIM:609053 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Broad thumb, Brachydactyly |
OMIM:614526 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Short toe, Hip dislocation... |
ORPHA:2308 |
| Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Sensorineural he... |
ORPHA:423479 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Spastic... |
ORPHA:79351 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydrocephalus |
ORPHA:251046 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait |
OMIM:616795 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Baraitser-Winter Syndrome 1 |
|
Microcephaly, Duplication of phalanx of hallux, Lissencephaly, Microphthalmia, Aortic valve steno... |
OMIM:243310 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra... |
OMIM:304120 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, Overlapping toe, Cerebral atrophy, Hip dysplasia, Hypoplasia of the... |
OMIM:618494 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Cerebellar vermis hypoplasia, Bilateral tonic-clonic ... |
OMIM:620024 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasi... |
OMIM:617895 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Microcephaly, Hand polydactyly, Broad thumb |
OMIM:239710 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Inability to w... |
OMIM:617799 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Optic nerve hypoplasia, Preaxial po... |
OMIM:603671 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
| Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... |
OMIM:617013 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Microcephaly |
OMIM:257910 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Microcephaly, Spinal dysraphism, Aortic valve stenosis, Mitral stenosis |
OMIM:617660 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... |
ORPHA:3103 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Triploidy |
|
Finger syndactyly, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holopro... |
ORPHA:3376 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Abnormal palmar dermatoglyphics, Heart murmur, Microcephaly |
ORPHA:2728 |
| Cloacal Exstrophy |
|
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Absent foot, Hip dislocation, Abnormal... |
ORPHA:93929 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Microcephaly, Cortical dysplasia, Hypertension, Pulmonary arterial... |
OMIM:100300 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism |
OMIM:612918 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus... |
OMIM:206900 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Microcephaly, Tapered finger, Macular hypoplasia |
OMIM:613792 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Cerebral atrophy, Pulmonary ar... |
OMIM:616449 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
| Kapur-Toriello Syndrome |
|
Single transverse palmar crease, Camptodactyly of finger, Pachygyria, Short thumb, Microphthalmia... |
OMIM:244300 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac... |
OMIM:619451 |
| Oculo-Palato-Cerebral Syndrome |
|
Microcephaly, Small hand, Aplasia/Hypoplasia of the corpus callosum, Short foot, Microphthalmia, ... |
ORPHA:2714 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Microcephaly, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Cerebellar hypopl... |
OMIM:612530 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Tremor, Optic atrophy, Seizur... |
ORPHA:90321 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcephaly, Congestive heart failure, Upper limb asymmetry, Umbilical hernia, Microphthalmia |
ORPHA:2505 |
| Refsum Disease |
|
Short metacarpal, Heart block, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, Micropht... |
ORPHA:773 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Microcephaly, Holoprosencephaly, Hypoplasia o... |
ORPHA:1587 |
| Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal cortical gyration, Microce... |
OMIM:219000 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Relative macrocephaly, Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Pre... |
OMIM:616300 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... |
OMIM:609638 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Microcephaly |
ORPHA:544254 |
| Desbuquois Dysplasia 2 |
|
Relative macrocephaly, Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, M... |
OMIM:615777 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... |
ORPHA:1515 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Mic... |
OMIM:272950 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Hydrocephalus, Telangiectasia, Polydactyly, Macrocephaly, ... |
ORPHA:93400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease |
OMIM:619053 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto... |
ORPHA:1788 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... |
OMIM:212780 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:568 |
| Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia, Spina bifida, Hemiatrophy |
ORPHA:2874 |
| Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinod... |
OMIM:300963 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypertonia, Myoclonus, Spast... |
OMIM:618426 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Bilateral tonic-clonic seizure, Underfolded helix, Posteriorly rotated ears, Focal-onset seizure,... |
OMIM:618316 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly |
OMIM:601163 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta |
ORPHA:2475 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Joint contracture of the 5th f... |
OMIM:620098 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Preaxial polyd... |
OMIM:243605 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-moto... |
OMIM:615802 |
| 9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Syringomyelia, Polydactyly, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:531151 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Cerebral calcification, Toe syndactyly, Arachnodactyly, Microcephaly, Short palm |
ORPHA:73246 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, Microcephaly, 2-3 toe syndactyly, Cutaneous syndactyl... |
OMIM:600987 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Macrocephaly, Aplasia/Hypoplasia of the cor... |
OMIM:617822 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ... |
OMIM:253800 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Sensorineural hearing impairment, Chore... |
ORPHA:255210 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microcephaly, Small hand, Short foot, Hypoplasia of the corpus callosum, Short palm, Microphthalmia |
OMIM:241410 |
| Houge-Janssens Syndrome 3 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... |
OMIM:618354 |
| Cystathioninuria |
|
Tremor |
ORPHA:212 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Microcephaly, Vitreous hemorrhage, Retinal neovascularization, Microphtha... |
ORPHA:891 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Sensorineural hearing impairment, Seizure, Gait ... |
ORPHA:488627 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Single transverse palmar crease, Microcephaly, Tapered finger,... |
ORPHA:435938 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Hydrocephalus, Buphthalmos, Hy... |
OMIM:613150 |
| Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, Microcephaly, Polydactyly, Clinodactyly, Brachydactyly |
OMIM:618950 |
| Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ataxia, Frequent falls |
OMIM:210000 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal phalanx of fi... |
ORPHA:404440 |
| Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
| Spinocerebellar Ataxia Type 27 |
|
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia |
ORPHA:98764 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Spasticity |
OMIM:607694 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremo... |
OMIM:614947 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Cerebellar vermis hypoplasia, Focal-onset seizure, Optic disc coloboma, Bilateral tonic-clonic se... |
OMIM:600092 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Microcephaly, Narrow palm, Slender... |
ORPHA:193 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Cerebellar hypoplasia, Abnormal metacarpal morph... |
ORPHA:3224 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Microcephaly, Small hand, Short palm, Clinodactyly of the 5th f... |
ORPHA:1786 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Abnormality of the humerus... |
ORPHA:3186 |
| Aarskog-Scott Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Congestive heart fai... |
ORPHA:915 |
| Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
| Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... |
OMIM:312080 |
| Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Microcephaly, Hip dislocation, Simplified gyral pattern, Cerebral atrophy, Hypert... |
OMIM:617729 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Hypoplasia of ... |
OMIM:615636 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos, Microcephaly |
ORPHA:2399 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Hypoplasia of... |
ORPHA:2169 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Arachnodactyly, Spina bifida, Microcephaly, Hydrocephalus, Meningoce... |
ORPHA:567 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Cerebellar hypoplasia, Microcephaly |
OMIM:618087 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly o... |
OMIM:180849 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Hand polydactyly,... |
ORPHA:401973 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| 3Q29 Microdeletion Syndrome |
|
Microcephaly, Tapered finger, Pulmonary arterial hypertension, Macrocephaly, Clinodactyly of the ... |
ORPHA:65286 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia |
OMIM:208920 |
| Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Hypertensio... |
OMIM:162200 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk,... |
OMIM:620066 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
| Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Anophthalmia, Toe syndactyly, Microcephaly, Myelomeningocele, U... |
ORPHA:2052 |
| Joubert Syndrome 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Postaxial hand polydactyly, Hydrocephalus, Postaxia... |
OMIM:608091 |
| Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp... |
OMIM:192350 |
| Pagod Syndrome |
|
Encephalocele, Spina bifida, Sudden cardiac death, Microcephaly, Meningocele, Arrhythmia |
ORPHA:991 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| 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 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Bilateral tonic-clonic seizure |
ORPHA:79350 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcephaly, Long fingers, Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malfo... |
OMIM:156610 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cut... |
OMIM:257850 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Macrocephaly |
OMIM:615085 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
| Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... |
ORPHA:3472 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Umbilical hernia, C... |
ORPHA:369891 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... |
OMIM:302960 |
| Encephalocraniocutaneous Lipomatosis |
|
Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Hypoplasia of the iris, Cerebellar hypopla... |
OMIM:613001 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Microcephaly, Unilateral microphthalmos, Macrocephaly, Polymicrogyria, Adducted thumb |
OMIM:618874 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:619356 |
| Oculodentodigital Dysplasia |
|
Microcephaly, Basal ganglia calcification, 4-5 finger syndactyly, Hip dislocation, Abnormal cereb... |
OMIM:164200 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly... |
OMIM:311900 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Microcephaly,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Microcephaly,... |
ORPHA:363958 |
| Galloway-Mowat Syndrome 1 |
|
Microcephaly, Pachygyria, Cerebral atrophy, Hypoplasia of the iris, Hypoplasia of the brainstem, ... |
OMIM:251300 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... |
ORPHA:90652 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
| Fanconi Anemia, Complementation Group F |
|
Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microph... |
OMIM:603467 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Glass Syndrome |
|
Broad-based gait, Posteriorly rotated ears, Bilateral tonic-clonic seizure, Seizure, Low-set ears... |
OMIM:612313 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Coxa vara, Lobar h... |
OMIM:614701 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Aortic regurgitation, Sandal gap, Aplasia/Hypoplasia of the cerebe... |
ORPHA:254346 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Hypoplasia of the olfactory bulb |
ORPHA:2250 |
| Hermansky-Pudlak Syndrome 10 |
|
Bilateral tonic-clonic seizure, EEG abnormality, Low-set ears, Macrotia, Focal myoclonic seizure |
OMIM:617050 |
| Melas |
|
Abnormal central motor function, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Sen... |
ORPHA:550 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... |
ORPHA:2256 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal hand morphology,... |
ORPHA:464 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Microcephaly, Abnormality of the elbow, Hip dislocation, Short middle phalanx ... |
ORPHA:1005 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Absent septum pellucidum, Microcephaly, Hydrocephalus, Dil... |
ORPHA:2556 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Microcephaly, Small hand, Mac... |
ORPHA:1001 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Central Y-shaped metacarpal, Pre... |
ORPHA:2754 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Proximal placement of thumb, Microcephaly, Talipes equinovarus, Hypoplas... |
OMIM:615789 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Microcephaly, Absent thumb, Aplasia/Hypoplasia of the distal p... |
ORPHA:1234 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Aplasia/Hypoplasia of the... |
ORPHA:2166 |
| Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Seizure, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Microcephaly, Microphthalmia, Broad thumb, Bilateral sin... |
ORPHA:1236 |
| Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Syndactyly, Small hand, Relative macrocephaly |
OMIM:616489 |
| Charge Syndrome |
|
Anophthalmia, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aqueductal stenosis, Abnormal t... |
ORPHA:138 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bi... |
OMIM:600145 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Oliver Syndrome |
|
Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydactyly, Elbow flexion contr... |
ORPHA:2920 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis |
OMIM:601186 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux |
OMIM:263630 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Polydactyly, Macu... |
OMIM:300960 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... |
ORPHA:240071 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Pachygyria, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:66629 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Simplified gyral pattern, Microcephaly |
OMIM:152950 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformation |
OMIM:220210 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Joint contracture of the 5th finger, Posta... |
OMIM:619562 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Abnormal m... |
ORPHA:284160 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Anteverted ears, Focal-onset seizure, Sensorineural heari... |
ORPHA:459070 |
| Warburg Micro Syndrome 4 |
|
Perisylvian polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callosum, Microphtha... |
OMIM:615663 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Microcephaly, Meningocele, Macrocephaly, Umbilical he... |
ORPHA:2311 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus... |
OMIM:616546 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hypsarrhythmia, ... |
ORPHA:447997 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Micromelia, Brachydactyly |
ORPHA:2145 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum |
ORPHA:1791 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proxim... |
ORPHA:96334 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... |
OMIM:614381 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Abnormal acetabulum morphology, Cerebellar vermis hypoplasia, Absent sep... |
ORPHA:397715 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Broad-based gait, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Ataxia, Ge... |
OMIM:614756 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Men... |
OMIM:236670 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Neonatal death, Seizure, Bilateral tonic-clonic seizure |
OMIM:620300 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Hypoplastic iris stroma, Spina bifida |
OMIM:193500 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... |
OMIM:300952 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Postaxial polydactyly, Microcephaly, Hydrocephalus, Cerebral atrophy,... |
OMIM:614576 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Holoprosenceph... |
OMIM:184705 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Microcephaly, Cardiomyopathy, Cerebellar hypoplasia, Sho... |
OMIM:217980 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Microcephaly, Clinodactyly of the 5th finger, Clinodactyly... |
ORPHA:3255 |
| Atelis Syndrome 2 |
|
Single transverse palmar crease, Microcephaly, Supravalvar pulmonary stenosis, Vitreous hemorrhag... |
OMIM:620185 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t... |
OMIM:600901 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Hypoplasia of the corpus callosum, Camptodactyly, Microphthalmia, A... |
OMIM:614230 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:168600 |
| Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Hip dysplasia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum |
ORPHA:494344 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, Tremor, Optic atrophy, Seizure |
OMIM:610505 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| Kbg Syndrome |
|
Finger clinodactyly, Microcephaly, Single transverse palmar crease, Cutaneous syndactyly |
ORPHA:2332 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydro... |
OMIM:311200 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Biparietal narrowing, Abnormal hip bone morphology, S... |
ORPHA:1323 |
| Lethal Acantholytic Erosive Disorder |
|
4-5 finger syndactyly, 2-3 finger syndactyly, Impaired myocardial contractility, Hypovolemic shoc... |
ORPHA:158687 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Microphthalmia, Ag... |
ORPHA:3301 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abno... |
ORPHA:468631 |
| Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial... |
OMIM:249000 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... |
OMIM:227646 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Hypertonia, Myoclonic... |
OMIM:252160 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Microcepha... |
ORPHA:783 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Vitreoretinochoroidopathy |
|
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
| Fetal Alcohol Syndrome |
|
Microphthalmia, Biparietal narrowing, Microcephaly |
ORPHA:1915 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Mi... |
OMIM:214800 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cerebellar vermis hypoplasia, Polymicrogyria |
OMIM:612379 |
| Apert Syndrome |
|
Syndactyly, Finger syndactyly, Absent septum pellucidum, Limited elbow movement, Megalencephaly, ... |
OMIM:101200 |
| Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Microcephaly, Pachygyria, Deep palmar crease, Polydactyly, Lisse... |
OMIM:247200 |
| Trisomy 10P |
|
Posteriorly rotated ears, Poor motor coordination, Abnormal auditory evoked potentials, EEG with ... |
ORPHA:171929 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:615538 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... |
ORPHA:2008 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Bilateral tonic-clonic seizure, Ataxia, Apraxia, Generalized myoclonic seizure, Hearing impairment |
ORPHA:99885 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t... |
OMIM:227650 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Foot polydactyly, Short palm, Microphthalmia, Agenesis of corpus callosum |
ORPHA:268249 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Ataxia, Inability to walk, Seizure, Hypertonia, Convulsive status epilepticus, Spasticity |
OMIM:608885 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing |
OMIM:614857 |
| Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l... |
OMIM:605039 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra... |
OMIM:601005 |
| Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity |
OMIM:616586 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:234050 |
| Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin... |
OMIM:277590 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Lissenceph... |
ORPHA:2510 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/apl... |
ORPHA:306542 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, ... |
OMIM:252010 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Optic atrophy, Bilateral tonic-clonic seizure |
OMIM:300578 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Abnormal cortical gyr... |
OMIM:617527 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Telangiectasia, Corneal neovascularization, Microcephaly |
OMIM:278730 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Broad palm,... |
OMIM:305400 |
| Monosomy 9Q22.3 |
|
Palmar pits, Hydrocephalus, Umbilical hernia, Polydactyly, Calcification of falx cerebri, Macroce... |
ORPHA:77301 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida, Tapered finger, Partial agenesis of the corpus callosum, Thin corpus... |
OMIM:619480 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Myhre Syndrome |
|
Overlapping toe, Microcephaly, Short toe, 2-3 toe syndactyly, Macrocephaly, Cone-shaped epiphysis... |
OMIM:139210 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Single transverse palmar crease, Microcephaly, Junctional ectopic tachy... |
OMIM:309801 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| W Syndrome |
|
Spasticity, Bilateral tonic-clonic seizure |
ORPHA:2804 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Pulmonary arterial hypertension, Pulmonic stenosis, Umbilical hernia, Brachydactyly |
OMIM:616028 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Aplasia/Hypoplasia of... |
ORPHA:1512 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decre... |
OMIM:216400 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Macrocepha... |
OMIM:614099 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Hypertrophic cardiomyopathy, M... |
ORPHA:1517 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Macroce... |
OMIM:601812 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia, Microcephaly |
ORPHA:2526 |
| Silver-Russell Syndrome 1 |
|
Clinodactyly of the 5th finger, Syndactyly, Short middle phalanx of the 5th finger, Short distal ... |
OMIM:180860 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Unilateral Polymicrogyria |
|
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Hearing impairment, Generalized non-motor (ab... |
ORPHA:369837 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Preaxial hand... |
ORPHA:2211 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Spina bifida occulta, Small hand, Short 4th metacarpal |
ORPHA:1787 |
| Kenny-Caffey Syndrome, Type 2 |
|
Basal ganglia calcification, Macrocephaly, Microphthalmia, Thickened cortex of long bones, Abnorm... |
OMIM:127000 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Relative macrocephaly, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of... |
OMIM:151050 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia |
ORPHA:240094 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Microcephaly, Toe clinodactyly, Cl... |
ORPHA:217346 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Tetraplegia, Seizure, Cerebellar hypopl... |
OMIM:257300 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Overlapping toe |
OMIM:618571 |
| 3C Syndrome |
|
Finger syndactyly, Hydrocephalus, Hand polydactyly, Abnormal hip bone morphology, Macrocephaly, A... |
ORPHA:7 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... |
ORPHA:93932 |
| Jacobsen Syndrome |
|
Microcephaly, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Macrocephaly, Clinodactyly of... |
OMIM:147791 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... |
OMIM:619762 |
| Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Holoprosencephaly, Macrocephaly, Microphthalmia, Abnormal c... |
ORPHA:141099 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Microcephaly, Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly |
ORPHA:1439 |
| Choreoacanthocytosis |
|
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... |
ORPHA:2388 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Agenesis of cerebellar vermis, Single transverse palmar crease, Proximal placement ... |
OMIM:113620 |
| Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Microcephaly, Abnormal toe morphology,... |
ORPHA:404448 |
| Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Talipes cavus equinovarus, Lipomyelomeningocele, Myelomenin... |
ORPHA:573278 |
| Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Absent septum pellucidum, Hip dislocation, Umbi... |
OMIM:613884 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:615530 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Talipes equin... |
ORPHA:314679 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Cerebral calcification, Camptodactyly of finger, Short hallux,... |
ORPHA:2710 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Delayed epiphyseal oss... |
OMIM:210710 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Pachygyria, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:2328 |
| Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Single transverse palmar crease, Microcephaly, Metatarsus adductus,... |
OMIM:123450 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Microcephaly |
ORPHA:178303 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93260 |
| Linear Nevus Sebaceus Syndrome |
|
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Biparietal... |
ORPHA:2612 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Preaxial hand polydactyly, Postaxial hand p... |
OMIM:236680 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcephaly, Hypopla... |
OMIM:613451 |
| Opitz-Kaveggia Syndrome |
|
Relative macrocephaly, Syndactyly, Broad hallux, Single transverse palmar crease, Partial agenesi... |
OMIM:305450 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microcephaly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the ... |
ORPHA:364577 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
| Holoprosencephaly 14 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Partial absence of cerebellar vermis, EEG abn... |
OMIM:619895 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Hyd... |
ORPHA:457284 |
| Poland Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A... |
ORPHA:2911 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... |
ORPHA:48818 |
| D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Seizure,... |
OMIM:261515 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor... |
OMIM:614298 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Microcephaly, Hypoplasia of ... |
ORPHA:464306 |
| Orofaciodigital Syndrome V |
|
Sandal gap, Postaxial polydactyly, Microcephaly, Postaxial hand polydactyly, Postaxial foot polyd... |
OMIM:174300 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t... |
OMIM:227645 |
| Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Tricuspid regurgitation, Tethered cord, Postaxial polydactyly, Micr... |
OMIM:618460 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Cerebellar calcifications... |
OMIM:133540 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Abnormal Eustachian tube morphology, Generalize... |
ORPHA:513456 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Microcephaly, Retinal hemorrhage, Hypoplasia of t... |
OMIM:609049 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip... |
ORPHA:35173 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Syndactyly, Intraventricular hemorrhage, Cerebral atrophy |
OMIM:616430 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Microcephaly, ... |
OMIM:309800 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly |
OMIM:614800 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Tonic seizure, Hypoplasia of the pons, ... |
OMIM:619512 |
| Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Renovascular hypertension, Brachydactyly |
OMIM:602531 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Microphthalmia, Long th... |
OMIM:300895 |
| Holoprosencephaly 7 |
|
Occipital meningocele, Microcephaly, Alobar holoprosencephaly, Partial agenesis of the corpus cal... |
OMIM:610828 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous... |
OMIM:620029 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius |
ORPHA:246 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Basal ganglia calcification, Microcephaly |
OMIM:610651 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Sensorineural hearing impairment, Poor ... |
ORPHA:466943 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Seizu... |
OMIM:301040 |
| Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
| Bone Marrow Failure Syndrome 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618165 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of t... |
ORPHA:1052 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Bilateral tonic-clonic seizure, Gait ataxia, Cerebellar hypopl... |
ORPHA:457359 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Bilateral tonic-clonic seizure |
OMIM:201475 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormal cortical gyration, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, S... |
OMIM:300968 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
| Hallermann-Streiff Syndrome |
|
Microcephaly, Congestive heart failure, Small hand, Short foot, Cerebellar hypoplasia, Clinodacty... |
ORPHA:2108 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Tapered finger, Microcephaly, Long fingers, 2-3 toe syndactyly, Hypoplasia of the corpus callosum... |
OMIM:616734 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Protruding ear... |
ORPHA:268261 |
| Momo Syndrome |
|
Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Macrocephaly, Congenital ps... |
ORPHA:2563 |
| Hamamy Syndrome |
|
Long toe, Syndactyly, Prolonged QRS complex, Down-sloping shoulders, Tapered finger, Long fingers... |
OMIM:611174 |
| Larsen Syndrome |
|
Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of... |
ORPHA:503 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Polymicrogyria, Umbilical hernia |
OMIM:614520 |
| Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... |
OMIM:619297 |
| X Small Rings |
|
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... |
ORPHA:96201 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Absent septum pellucidum, Mic... |
ORPHA:87 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head ... |
OMIM:606002 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
| Mogs-Cdg |
|
Seizure, Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses |
ORPHA:79330 |
| Fryns Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Agenesis of corpus callosum, Cerebral cortical at... |
ORPHA:2059 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly, Hypertension |
ORPHA:110 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo... |
OMIM:617925 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anter... |
OMIM:616975 |
| Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Infantile spasms, ... |
OMIM:301044 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
| Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Cerebellar hypoplasia,... |
OMIM:614083 |
| 1Q44 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:238769 |
| Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... |
ORPHA:2886 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Macrotia, Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Postaxial polydactyly |
OMIM:219730 |
| Webb-Dattani Syndrome |
|
Spasticity, Bilateral tonic-clonic seizure |
OMIM:615926 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hemiparesis, Paraparesis, Bilateral tonic-clonic seizure, Paraplegia |
ORPHA:79124 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:3044 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Uplifted earlobe, Myoclonic seizure, Gait ataxi... |
OMIM:280000 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye |
ORPHA:91495 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra... |
ORPHA:958 |
| Aicardi Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Small hand, Hip dysplasia, Aplasia/Hypopla... |
ORPHA:50 |
| Pallister-Hall Syndrome |
|
Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Umbilical hernia, Polydactyly affecting ... |
ORPHA:672 |
| Kbg Syndrome |
|
Syndactyly, Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, Radial deviation... |
OMIM:148050 |
| Dubowitz Syndrome |
|
Syndactyly, Single transverse palmar crease, Microcephaly, Hypoplasia of the iris, Clinodactyly o... |
OMIM:223370 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema |
OMIM:221900 |
| Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... |
OMIM:200990 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microcephaly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the ... |
OMIM:608670 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Telangiectasia, Microcephaly |
OMIM:601675 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly |
ORPHA:1252 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... |
ORPHA:989 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Portal hypertension, Microcephaly, Tapered finger, Small hand, Pulmonary arterial hypertension, H... |
OMIM:620005 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short thumb, Small hand, Telangiectasia, Short foot, Talipes equinova... |
OMIM:268400 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Polydactyly, Hypoplasia of the corpus cal... |
OMIM:619869 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Tricuspid regurgitation, Macrocephaly, Mesomelia, Camptodactyly, Clinodactyly, Short ... |
OMIM:616894 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Hydrocephalus, Umbilical hernia, Cubitus valgus |
OMIM:104350 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po... |
ORPHA:2751 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Monosomy 9P |
|
Proximal placement of thumb, Microcephaly, Abnormality of the tarsal bones, Postaxial hand polyda... |
ORPHA:261112 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... |
ORPHA:2215 |
| Gaucher Disease |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Hemiplegia/hemiparesis, Oculomotor apraxia, Abnor... |
ORPHA:355 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Macrocephaly,... |
OMIM:620025 |
| Hartsfield Syndrome |
|
Syndactyly, Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Ectrodactyly, Agenes... |
OMIM:615465 |
| Vacterl/Vater Association |
|
Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Anencephaly, Aplasia/Hypop... |
ORPHA:887 |
| Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, Tethered cord, 1-2 toe syndactyly, M... |
OMIM:107480 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Simple febrile seizure, Typical absence... |
ORPHA:466950 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... |
ORPHA:2750 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Bilateral tonic-clonic seizure |
ORPHA:436159 |
| Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Short humerus, Short femur, Microcephaly, Cerebral a... |
ORPHA:17 |
| Fryns Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Short thumb, Hy... |
OMIM:229850 |
| Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Microcephaly, Postaxial hand polydact... |
ORPHA:818 |
| Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Cortical dysplasia, Intracranial hemorrhage, Short palm, Clinodactyl... |
OMIM:613406 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger c... |
ORPHA:508488 |
| Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation |
OMIM:606519 |
| Cocaine Intoxication |
|
Bilateral tonic-clonic seizure, Involuntary movements, Tremor, Focal-onset seizure, Atypical abse... |
ORPHA:90068 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microcephaly, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia |
OMIM:259770 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia |
OMIM:601552 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Basal ganglia calcification, Bilateral microp... |
ORPHA:93325 |
| Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Hypertension, Deep palm... |
OMIM:616580 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Sclerosteosis 1 |
|
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... |
OMIM:269500 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Pain insensitivity, Broad-based gait, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Pos... |
OMIM:620330 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Patellar aplasia, Hip dis... |
OMIM:265000 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Ethmocephaly, Agen... |
OMIM:236100 |
| Lujo Hemorrhagic Fever |
|
Seizure, Bilateral tonic-clonic seizure, Resting tremor |
ORPHA:319213 |
| Cat Eye Syndrome |
|
Absent radius, Microphthalmia, Umbilical hernia, Pulmonic stenosis |
OMIM:115470 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Hydrocephalus, Genu ... |
OMIM:164210 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Buphthalmos, Hypoplasia o... |
OMIM:253280 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Bloom Syndrome |
|
Syndactyly, Microcephaly, Hand polydactyly, Clinodactyly of the 5th finger, Facial telangiectasia... |
OMIM:210900 |
| Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:268300 |
| Fraser Syndrome 2 |
|
Microphthalmia, Cutaneous syndactyly |
OMIM:617666 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Clinodactyly of the 5th finger, Syndactyly, Broad palm |
OMIM:618505 |
| Okamoto Syndrome |
|
Tethered cord, Microcephaly, Abnormally large globe, Hip dysplasia, Syringomyelia, Polydactyly, H... |
ORPHA:2729 |
| Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Absent septum pellucidum, Aplastic clavicle, Abnormal metacarpal morphology, H... |
ORPHA:2658 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Broad hallux, Microcephaly, Postaxial hand... |
OMIM:615948 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Microcephaly, Symphalangism affecting the phalanges o... |
ORPHA:2990 |
| Faciocardiomelic Syndrome |
|
Slender long bone, Polydactyly, Hypoplastic pelvis, Microcephaly |
OMIM:612731 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, S... |
OMIM:612474 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra... |
OMIM:263750 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t... |
ORPHA:794 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| Degcags Syndrome |
|
Syndactyly, Tachycardia, Toe syndactyly, Microcephaly, Short thumb, Preaxial hand polydactyly, Ge... |
OMIM:619488 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Finger syndactyly, Bundle branch block, Congenital hip dislocation, Toe sy... |
ORPHA:373 |
| Prader-Willi Syndrome |
|
Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia, Radial d... |
OMIM:176270 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage, Microcephaly |
OMIM:308300 |
| Carpenter Syndrome 2 |
|
Short digit, Tricuspid regurgitation, Single transverse palmar crease, Postaxial polydactyly, Pre... |
OMIM:614976 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
| Trichothiodystrophy |
|
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Bilateral microph... |
ORPHA:33364 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Abnormal digit morpholog... |
ORPHA:95494 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Agene... |
ORPHA:42775 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Macrocephaly, Hypertension, Polydactyly, Meso... |
OMIM:613610 |
| Helsmoortel-Van Der Aa Syndrome |
|
Broad hallux, Sandal gap, Tapered finger, Small hand, Heart murmur, Genu valgum, Mitral regurgita... |
OMIM:615873 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Short ... |
OMIM:216340 |
| Fontaine Progeroid Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Tricuspid regurgitation, Microcephaly, Hydrocephalus, P... |
OMIM:612289 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... |
OMIM:619539 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... |
ORPHA:2473 |
| Legius Syndrome |
|
Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Macrocephaly... |
ORPHA:137605 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Relative macrocephaly, Syndactyly, Narrow joint spaces of the elbow, Clinodactyly of the 5th fing... |
ORPHA:96182 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C... |
OMIM:234200 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Broad hallux, Deviation of the hallux, Cardiac conduction abnormality, Avascular necr... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Broad hallux, Deviation of the hallux, Cardiac conduction abnormality, Avascular necr... |
ORPHA:353277 |
| Cockayne Syndrome Type 3 |
|
Cerebral white matter atrophy, Basal ganglia calcification, Subdural hemorrhage, Retinal hemorrha... |
ORPHA:90324 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:73224 |
| Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
| 3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly |
OMIM:248340 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Microcephaly, Clubbing, Clinodactyly of the 5... |
ORPHA:96123 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Schizencephaly, Cerebral hemorrhage, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Retin... |
OMIM:175780 |
| Papillorenal Syndrome |
|
Microphthalmia, Hypertension |
OMIM:120330 |
| Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Large placenta, Short femoral neck, Cli... |
ORPHA:1708 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Arrhythmia |
OMIM:153400 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Microcephaly |
ORPHA:322 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Hip dysplasia, Branchial anomaly, Ta... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Hip dysplasia, Branchial anomaly, Ta... |
ORPHA:352665 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Narrow greater sciatic notch, Short palm, Agenesis of corpus callos... |
OMIM:312870 |
| Renpenning Syndrome 1 |
|
Microcephaly, Cerebral atrophy, Camptodactyly, Clinodactyly of the 5th finger, Microphthalmia, Sy... |
OMIM:309500 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Bilateral single transverse palma... |
ORPHA:3253 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Camptodactyly, C... |
OMIM:227330 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Absent septum pellucidum, Dysplastic corpus callosum, Secondary microcephaly, Holopro... |
OMIM:618820 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand |
ORPHA:1300 |
| Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... |
OMIM:620352 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Epileptic spasm, Broad-based gait, Exaggerated startle response, Involuntary m... |
ORPHA:438213 |
| Cockayne Syndrome |
|
Cerebral calcification, Cerebral dysmyelination, Basal ganglia calcification, Retinal hemorrhage,... |
ORPHA:191 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
| Doors Syndrome |
|
Small cerebellar cortex, Bilateral tonic-clonic seizure, Optic atrophy, EEG abnormality, Focal im... |
ORPHA:79500 |
| Robinow Syndrome |
|
Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Mesomelic arm shortening, Radioulna... |
ORPHA:97360 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Congenital hip dislocation, Overlapping toe, Cerebellar vermis hypoplasia, Postaxi... |
ORPHA:480880 |
| Vici Syndrome |
|
Abnormal posturing |
OMIM:242840 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Broad hallux, Single transverse palmar crease, Pulmonary arterial hypertension, M... |
OMIM:620186 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly |
OMIM:236700 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Microcephaly, Preaxial hand polydactyly, ... |
ORPHA:2753 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ... |
ORPHA:3107 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
| Ogden Syndrome |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Protruding ear, Hypertoni... |
OMIM:300855 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Wrist swelling, Hip dislocation, Periventricular cysts, Genu valgum, Fin... |
OMIM:309000 |
| Tetraamelia Syndrome 1 |
|
Microphthalmia, Hydrocephalus, Hypoplastic pelvis |
OMIM:273395 |
| Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short metat... |
OMIM:261540 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
| Rabson-Mendenhall Syndrome |
|
Cardiomyopathy, Polydactyly |
ORPHA:769 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c... |
ORPHA:261537 |
| Fraser Syndrome 3 |
|
Short toe, Hydrocephalus, Cutaneous syndactyly |
OMIM:617667 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Dural ecta... |
OMIM:610168 |
| Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly, Microcephaly |
OMIM:301022 |
| Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Holoprosencephaly, Microphthalmia,... |
OMIM:157170 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... |
ORPHA:69085 |
| Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormality of the upper limb, Sho... |
ORPHA:1556 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ... |
ORPHA:1896 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Congestive heart failure, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly,... |
OMIM:181270 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c... |
ORPHA:261552 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
| Treacher-Collins Syndrome |
|
Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Syndactyly, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, P... |
OMIM:619534 |
| Coffin-Siris Syndrome 12 |
|
Microcephaly, Short thumb, Slender finger, Noncommunicating hydrocephalus, Heart murmur, Cutaneou... |
OMIM:619325 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hip dislocation, Genu valgum, Buphthalmos, Umbilical hernia, Abnormal epiphysis morphology, Micro... |
ORPHA:534 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1974 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Palmoplantar hyperkeratos... |
ORPHA:2907 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ... |
OMIM:617088 |
| Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Sudden cardiac death, Metatarsus valgus, Pulmonar... |
ORPHA:744 |
| Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c... |
ORPHA:2152 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature |
ORPHA:1521 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Myocardial infar... |
OMIM:150230 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Umbilical hernia, Arrhythmia, Brach... |
ORPHA:1519 |
| Sotos Syndrome |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Aganglionic megacolon, Tremor, Cond... |
ORPHA:821 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Genu varum |
ORPHA:1969 |
| Mowat-Wilson Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of... |
OMIM:235730 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Microcephaly, Hypoplasia of the iris, Aplasia/Hypoplasia of the c... |
ORPHA:649 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma |
ORPHA:1071 |
| Hennekam Syndrome |
|
Finger syndactyly, Pachygyria, Camptodactyly of finger |
ORPHA:2136 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short... |
ORPHA:2908 |
| Kabuki Syndrome 1 |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure with focal onset, Protruding ear, Seizur... |
OMIM:147920 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
