| Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... |
ORPHA:98765 |
| Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination |
ORPHA:98766 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
| Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
| Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait, Blurred vision |
OMIM:160120 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... |
OMIM:615268 |
| Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... |
ORPHA:101010 |
| Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
| Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm... |
OMIM:615625 |
| Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... |
ORPHA:171622 |
| Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cerebellar agenesis |
ORPHA:1397 |
| Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... |
OMIM:617018 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... |
OMIM:619742 |
| Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... |
ORPHA:94122 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor |
OMIM:601238 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
| Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Ankle clonus, Diffi... |
OMIM:611252 |
| Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
| Spinocerebellar Ataxia Type 23 |
|
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... |
ORPHA:101108 |
| Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
| Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
| Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis, V... |
ORPHA:2815 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... |
ORPHA:363710 |
| Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... |
ORPHA:423275 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Ataxia, Choreoathetosis, Gait disturbance, Spastic paraparesis, Visual impairment |
ORPHA:67047 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Loss of ambulation, Ataxia, Myoclonus |
OMIM:600143 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Upper motor neuron dysfunction, Ataxia, Visual impairment |
ORPHA:3177 |
| Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... |
ORPHA:276193 |
| Optic Atrophy 1 |
|
Ataxia, Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Abnormal amplitude of ... |
OMIM:165500 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor |
OMIM:608029 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia |
OMIM:614322 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Myopia, Ataxia, Hemiplegia/hemiparesis, Gait disturbance |
ORPHA:2572 |
| Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Torticollis |
OMIM:611694 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy |
OMIM:615957 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... |
OMIM:610357 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus, Truncal ata... |
OMIM:616230 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... |
OMIM:616127 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio... |
OMIM:302500 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... |
OMIM:220200 |
| 3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Chorea, Babinski sign, Reduced visual acuity, Abnormality of extrapyramidal motor functio... |
OMIM:258501 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
| Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Ataxia, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Color vision ... |
OMIM:616732 |
| Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
| Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
| Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ... |
OMIM:300423 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus |
OMIM:125370 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sens... |
OMIM:617633 |
| Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... |
OMIM:605259 |
| Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... |
OMIM:117360 |
| Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokine... |
OMIM:248900 |
| Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... |
OMIM:618090 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Spasticity, Abnormal a... |
OMIM:125250 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... |
ORPHA:512260 |
| Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, H... |
OMIM:604326 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar hypo... |
OMIM:224050 |
| Early-Onset X-Linked Optic Atrophy |
|
Central scotoma, Babinski sign, Reduced visual acuity, Gait ataxia, Choreoathetosis, Dysdiadochok... |
ORPHA:98890 |
| Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Cholestatic liver disease, Acholi... |
ORPHA:65682 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
| Dystonia 23 |
|
Cerebellar atrophy, Torticollis, Gait disturbance, Myoclonus, Head tremor |
OMIM:614860 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
| Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
| Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
| Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... |
OMIM:607565 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Depression, Cholestatic liver diseas... |
ORPHA:79095 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
| Posterior Cortical Atrophy |
|
Speech apraxia, Ataxia, Limb apraxia, Cerebral visual impairment, Abnormality of vision, Photopho... |
ORPHA:54247 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
| Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Lo... |
OMIM:256731 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Gait disturbance, Bradykinesia |
ORPHA:228169 |
| Dystonia 9 |
|
Diplopia, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia |
OMIM:601042 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Diplopia, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ata... |
ORPHA:53583 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Anorexia, Decreased body weight, Failure to thrive |
ORPHA:99852 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Nyctalopia, Abnormal pyramidal sign, Dysmetria, Dysdiadoc... |
ORPHA:96 |
| Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
| Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
| Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
| Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
| Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
| Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia |
OMIM:143100 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Los... |
OMIM:618088 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
| Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
| Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... |
ORPHA:98 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Blindness, Ataxia, Tremor, Visual loss, Upper motor neuron dysfunction, Sl... |
ORPHA:206443 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... |
ORPHA:248111 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... |
ORPHA:98764 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Blindness, Incoordination, Ataxia, Visual loss, Dysmetria, Gait ataxia, Hemiparesis, Bradykinesia... |
OMIM:601338 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
| Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Reduced bone mineral densit... |
ORPHA:848 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Ataxia, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Failure to thrive, Aggressive behavior, Cryptorchidism, Flexion cont... |
OMIM:300534 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia |
OMIM:612020 |
| Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
| Metachromatic Leukodystrophy |
|
Ataxia, Hearing impairment, Decreased nerve conduction velocity, Abnormal gallbladder morphology,... |
ORPHA:512 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice... |
OMIM:211600 |
| Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Limb ataxia, Dysmet... |
OMIM:607136 |
| Alpers-Huttenlocher Syndrome |
|
Blindness, Ataxia, Paraparesis, Abnormality of vision, Choreoathetosis, Myoclonus, Progressive sp... |
ORPHA:726 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
| Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Ataxia, Microvesicular hepatic steatosis, Sensorineural hearing impa... |
OMIM:619273 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
| Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Ataxia, Osteoporosis, Pseudobulbar paralysis, Dementia, Difficulty walking, Ab... |
OMIM:213700 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia |
OMIM:618093 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Pellagra-Like Syndrome |
|
Diplopia, Ataxia |
OMIM:260650 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Myopia, Lower limb spasticity, Ataxia, Postural tremor, Head tituba... |
OMIM:615491 |
| Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Dysmetri... |
OMIM:603516 |
| Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... |
ORPHA:98759 |
| Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Babin... |
OMIM:159550 |
| Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Cognitive impairment, Cholelithiasis |
ORPHA:846 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... |
ORPHA:1170 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Loss of ambulation, Spasticit... |
OMIM:611390 |
| Optic Atrophy 5 |
|
Constriction of peripheral visual field, Central scotoma, Abnormality of pattern visual evoked po... |
OMIM:610708 |
| Myotonic Dystrophy 1 |
|
Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular ... |
OMIM:160900 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
| Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Babinski sign, Impaired proprioception, Reduced visual acui... |
OMIM:229300 |
| Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
| Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
| Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,... |
OMIM:183090 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Blindness, Ataxia |
OMIM:271250 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
| Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Gait ataxia |
ORPHA:139480 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Preling... |
ORPHA:52368 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Myopia, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sensation, Dista... |
OMIM:601455 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, O... |
ORPHA:231222 |
| Adult Polyglucosan Body Disease |
|
Neurogenic bladder, Ataxia, Abnormal pyramidal sign, Distal sensory impairment, Hemiparesis, Gait... |
ORPHA:206583 |
| Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Low-set ears, Attention deficit ... |
ORPHA:3166 |
| Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
| Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia |
OMIM:613909 |
| Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... |
OMIM:183086 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Intr... |
ORPHA:53035 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
| Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Spasticity, Intention tremor |
OMIM:215470 |
| Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
| Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Central scotoma, Distal sensory impairment, Slow decrease in visual acuity, Steppage gait, Positi... |
OMIM:601152 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Short attention span, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials,... |
ORPHA:909 |
| Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls |
OMIM:615217 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Decreased body weight, Abnormality of the male genitalia, Cholelit... |
OMIM:614886 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Osteoporosis, Obesity, Gait ataxia, Hypoplasia of the u... |
OMIM:615300 |
| Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
| Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... |
ORPHA:309271 |
| Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
| Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Splenomegaly, Jaundice, Unsteady gait, Cholecystitis, Prolonged neonatal jaund... |
OMIM:615512 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Constriction of peripheral visual field, Ataxia, Spastic paraplegia, Progressive visual loss, Abn... |
ORPHA:1215 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Short attention span, Hepatomegaly, Posteriorly rotated ears, Cho... |
OMIM:301066 |
| Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
| Mepan Syndrome |
|
Ataxia, Chorea, Reduced visual acuity, Gait disturbance, Myoclonus, Abnormality of visual evoked ... |
ORPHA:508093 |
| Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, P... |
ORPHA:171 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Visual loss, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Abnormality of ... |
OMIM:256600 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... |
OMIM:137440 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Optic atrophy, Irritability, Joint contra... |
OMIM:616881 |
| Distal Duplication 5Q |
|
Hypospadias, Craniosynostosis, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Low-set ear... |
ORPHA:96097 |
| Mirizzi Syndrome |
|
Elevated hepatic transaminase, Anorexia, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelit... |
ORPHA:521219 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Precocious puberty, Cryptorchidism, Contractures of the large joints, Aplasia/Hypopl... |
ORPHA:96092 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract ... |
ORPHA:79301 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Anorex... |
ORPHA:97278 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Hypospadias, Aggressive behavior, Inability to walk, Male urethral meatus stenos... |
ORPHA:464738 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:822 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Babinski sign, Reduced visual acuity, Gait ataxia, Clumsiness, Progressive gait ataxia, Tip-toe g... |
ORPHA:309256 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Ataxia, Visual impairment |
ORPHA:1933 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myopia, Blindness, Ataxia, Visual loss, Inability to walk, Abnormal amplitude of flash visual evo... |
ORPHA:168491 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Choreoathetosis, Gait disturbance, Abnormality of visual evoked potentials, Spasticity, V... |
ORPHA:702 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... |
ORPHA:99027 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Asplenia, Tympanosclerosis, Ma... |
OMIM:240300 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Elevated circulating growth hormone concentrati... |
ORPHA:97261 |
| Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Absent brainstem auditory responses, Hepatomegaly, Failure to thri... |
ORPHA:90321 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Progressive neurologic ... |
ORPHA:206448 |
| Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
| Glycogen Storage Disease Vii |
|
Cholelithiasis, Jaundice |
OMIM:232800 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Ataxia, Hypersplenism, Splenomegaly, Osteoporosis, Depression, Neoplasm... |
ORPHA:77293 |
| Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Osteoporosis, Cholestasis |
ORPHA:232 |
| Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Absent gallbladder, Cystic liver disease, Bile duct proliferation, H... |
OMIM:612284 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:182900 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Male hypogonadi... |
ORPHA:273 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
| Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Bradykinesia, Blepharospasm, Falls |
ORPHA:683 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Myopia, Hypertonia, Gait disturbance |
ORPHA:2971 |
| Trisomy 10P |
|
Absent gallbladder, Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked... |
ORPHA:171929 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Inguinal hernia, Flexion contracture of finger, Failure to thrive, Shoulder flex... |
OMIM:193700 |
| Stargardt Disease |
|
Central scotoma, Nyctalopia, Reduced visual acuity, Abnormality of visual evoked potentials, Colo... |
ORPHA:827 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials, Hypertonia, Cerebral visual impairment |
ORPHA:1389 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Exocrine pancreatic insufficiency, Splenomegaly, EEG abnormality, Distal arthrogryp... |
OMIM:618268 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Annular pancreas, Panc... |
OMIM:615710 |
| Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Cardiomegaly, Inability to walk, Optic atrophy, Bilateral wris... |
ORPHA:97297 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Reduced bon... |
ORPHA:1414 |
| Canavan Disease |
|
Abnormality of visual evoked potentials, Blindness, Hypertonia, Visual impairment |
ORPHA:141 |
| Infantile Neuroaxonal Dystrophy |
|
Blindness, Ataxia, Spastic tetraparesis, Unsteady gait, Abnormal pyramidal sign, Gait disturbance... |
ORPHA:35069 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Babinski sign, Reduced visual acuity, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, ... |
ORPHA:309263 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Visual loss, Hemiparesis, Pseudobulbar paralysis, Gait disturbance, Abnormality of visual evoked ... |
OMIM:125310 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Hepatomegaly, Ataxia, Abnormal pinna morpho... |
OMIM:216400 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Corneal scarring, Atypical scarring... |
OMIM:263700 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Papilledema, Cholelithiasis |
OMIM:618775 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... |
OMIM:273250 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Broad-based gait, Cachexia, Abnormality of the spleen, Sensorineural hearing impairm... |
ORPHA:2072 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructiv... |
ORPHA:432 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Abnormality of the uterus, Conductive hearing impairment, Small earlobe... |
ORPHA:567 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Abnormal pinna morphology, Septate vagina, Uterus didelphys, Decreased calvar... |
OMIM:617925 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
| Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
| Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis |
OMIM:603903 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Ataxia, Abnormal pinna morphology, Abnormal au... |
OMIM:133540 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Short-segment aganglionic meg... |
OMIM:609136 |
| Trisomy 8P |
|
Multiple joint contractures, Posteriorly rotated ears, Cryptorchidism, Annular pancreas, Aplasia/... |
ORPHA:264450 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... |
ORPHA:99429 |
| Pentalogy Of Cantrell |
|
Omphalocele, Absent gallbladder, Hypospadias, Congenital diaphragmatic hernia, Polysplenia |
ORPHA:1335 |
| Hereditary Elliptocytosis |
|
Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice |
ORPHA:288 |
| Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
| Infantile Krabbe Disease |
|
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... |
ORPHA:206436 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Conductive hearing impairment, Sensorineural heari... |
OMIM:618500 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Sen... |
OMIM:614129 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Failure to thrive, Biliary hyperplasia, Cryptorchidism, Contractur... |
ORPHA:83617 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
| Triploidy |
|
Omphalocele, Low-set, posteriorly rotated ears, Hypoplasia of penis, Hepatomegaly, Hypospadias, C... |
ORPHA:3376 |
| Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Osteoporosis, Hepa... |
OMIM:607330 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia,... |
OMIM:614837 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Cardiomegaly, Dysmetria, Protruding ear, Compulsive behaviors, L... |
ORPHA:904 |
| Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Myopia, Cerebral visual impairment, Dystonic gait, Abnormality of visual evoked potentials, Limb ... |
ORPHA:480898 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
| Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Failure to thrive, Attention deficit hyperactivity disorder |
OMIM:619151 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Small for gestational age, Abnormal reproductive system morphology... |
ORPHA:1916 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia, Attention deficit hyperactivity disorder |
ORPHA:565899 |
| Joubert Syndrome 6 |
|
Bile duct proliferation, Abnormal repetitive mannerisms, Hepatic fibrosis, Ataxia |
OMIM:610688 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Sensorineural hearing impairment, Streak ovary |
OMIM:617565 |
| Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Parathyroid agenesis, Cholelithiasis, Splenomegaly, Obesity, Par... |
OMIM:188400 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Small for gestational age, Congenital diaphragmatic hernia, Biliary atresia, P... |
ORPHA:2255 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Small for gestational age, Abnormal pinna morphology, Low-set ears, Pancreati... |
ORPHA:556955 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Sen... |
ORPHA:79330 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Elevated circulating luteinizing hormone level, Female external genitalia in i... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Elevated circulating luteinizing hormone level, Female external genitalia in i... |
ORPHA:289548 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Male pseudohermaphroditism, Abnorma... |
ORPHA:2075 |
| Craniofacioskeletal Syndrome |
|
Absent gallbladder, Posteriorly rotated ears, Hypospadias, Cryptorchidism, Microtia |
OMIM:300712 |
| Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas, Aganglionic megacolon |
ORPHA:210122 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, R... |
ORPHA:79303 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone ... |
ORPHA:3464 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Posteriorly rotated ears, Ambiguous ge... |
ORPHA:96176 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Posteriorly rotated ears, Hypospadias, Cryptorchidism, Microtia, Micropenis |
ORPHA:163979 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonged neonatal jaundice |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonged neonatal jaundice |
ORPHA:529799 |
| Vacterl/Vater Association |
|
Omphalocele, Bifid scrotum, Hypoplasia of penis, Low-set, posteriorly rotated ears, Hypospadias, ... |
ORPHA:887 |
| Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Protruding ear, Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the... |
ORPHA:247768 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Ataxia, Mi... |
OMIM:203700 |
| Tetrasomy 9P |
|
Absent gallbladder, Hyperactivity, Abnormal dental enamel morphology, Cryptorchidism, Jaundice, B... |
ORPHA:3310 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Conductive hearing impairment |
OMIM:601076 |
| Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Failure to thrive, Heari... |
ORPHA:349 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Sensorineural hearing impairment, Uterus didelphys, Aplasia o... |
OMIM:146255 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Optic nerve hypoplasia, Vaginal atresia, Attention deficit hyperactivit... |
OMIM:617914 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Posteriorly rotated ears, Craniosynostosis, Bilobate gallb... |
OMIM:261540 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Progressive neurologic deterioration, Sensorineural hearing impair... |
OMIM:618329 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials, Babinski sign, Ataxia |
OMIM:231550 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th... |
ORPHA:2869 |
| Estrogen Resistance Syndrome |
|
Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Increased circulating g... |
ORPHA:785 |
| Steinfeld Syndrome |
|
Absent gallbladder, Abnormal pinna morphology, Hearing impairment |
OMIM:184705 |
| Zttk Syndrome |
|
Absent gallbladder, Craniosynostosis, Flexion contracture, Optic atrophy, Protruding ear, Low-set... |
OMIM:617140 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
| D-Bifunctional Protein Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Fetal ascites, Decreased nerve conductio... |
OMIM:261515 |
| Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Low-set ... |
ORPHA:401973 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Osteopetrosis |
ORPHA:3240 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Osteopenia, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
| Meckel Syndrome, Type 7 |
|
Inguinal hernia, Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatospl... |
OMIM:267010 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Absent gallbladder, Atresia of the external auditory canal, Hearing impairment |
ORPHA:3186 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Inguinal hernia, Failure to thrive, Congenital diaphragmatic hernia, Biliary ... |
OMIM:600001 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... |
ORPHA:731 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Meckel Syndrome 14 |
|
Decreased calvarial ossification, Hepatic fibrosis, Low-set ears, Aplasia of the uterus, Ambiguou... |
OMIM:619879 |
| Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, C... |
ORPHA:100086 |
| Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Agonadism, Sex reversal, Hypopl... |
OMIM:154230 |
| Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Elevated hepatic transaminase, Inguinal hernia, Small scrotum, Small for gestational ... |
OMIM:613658 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Osteolytic defects of the phalanges of the hand |
OMIM:600705 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Aplasia of the uter... |
ORPHA:2237 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Microtia |
OMIM:614851 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Failure to thrive in infancy, Optic nerve hypoplasia, Sagittal craniosynostos... |
ORPHA:500150 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Arthrogryposis multiplex congenita, Vaginal atresia, Low-set ears |
OMIM:616258 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistula, Overfolded helix |
OMIM:617466 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Accessory spleen, Posteriorly rotated ears, Small for gestational age, Elevated circ... |
OMIM:618419 |
| Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
| Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Hepatoblastoma, Goiter, Pituitary adenoma, Neoplas... |
ORPHA:733 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Inguinal hernia, Optic nerve hypoplasia, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
| Meckel Syndrome, Type 2 |
|
Omphalocele, Bile duct proliferation |
OMIM:603194 |
| Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Ataxia, Congenital diaphragmatic hernia, Cryptorc... |
ORPHA:280 |
| Fanconi Anemia, Complementation Group L |
|
Anotia, Microtia, Aplasia of the uterus, Attention deficit hyperactivity disorder, Low-set ears, ... |
OMIM:614083 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Cryptorchidism, Pica, Protruding ear, Ovarian cyst, Aplasia of the... |
OMIM:614527 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Multilobulated spleen, Hypoplas... |
OMIM:601186 |
| Oeis Complex |
|
Omphalocele, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal... |
OMIM:258040 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Abnormal pinna morphology, Small for gestational age, Precocious p... |
OMIM:194190 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Aplasia of the uterus |
ORPHA:3320 |
| Norrie Disease |
|
Failure to thrive, Cachexia, Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Pro... |
ORPHA:649 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
| Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Bifid uterus |
ORPHA:2736 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
| Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Cholangitis, Craniosynostosis, Sple... |
OMIM:613610 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... |
OMIM:619991 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Craniosynostosis, Bifid uterus |
ORPHA:1521 |
| Meckel Syndrome, Type 1 |
|
Omphalocele, Accessory spleen, Camptodactyly of finger, External genital hypoplasia, Malformation... |
OMIM:249000 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, ... |
OMIM:137920 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Early ossification of ... |
OMIM:208500 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
| Coffin-Siris Syndrome 1 |
|
Inguinal hernia, Hypospadias, Abnormal pinna morphology, Congenital diaphragmatic hernia, Aggress... |
OMIM:135900 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Abnormal dental enamel morph... |
ORPHA:818 |
| Meckel Syndrome, Type 4 |
|
Bile duct proliferation |
OMIM:611134 |
| Limb-Mammary Syndrome |
|
Absent nipple, Protruding ear, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, ... |
ORPHA:69085 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... |
OMIM:609441 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryp... |
OMIM:618280 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus, Protruding ear |
ORPHA:2879 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Accessory spleen, Hypospadias, Abnormal pinna morphology, Bifid uterus, Stillbirth, ... |
OMIM:236680 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Hypoplasia of the uterus, Chordee, Micro... |
OMIM:309801 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Protruding ear, Hepatic fibrosis, Neonatal death, Intr... |
OMIM:619534 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Cupped ear |
OMIM:110100 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism, Macrotia, Yellow subcutaneous tissue covered by thin, scaly skin, S... |
OMIM:256520 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Conductive hearing impairment, Micropenis, Simp... |
OMIM:201750 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Inguinal hernia, Cryptorchidism, Cigarette-paper scars, Cystocele, Foot acroosteolysis, Cervical ... |
OMIM:130050 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Overfolding of the superior helices, Rectoperineal fistula, Hypospadias, Small for... |
OMIM:107480 |
| Exstrophy-Epispadias Complex |
|
Omphalocele, Bifid scrotum, Inguinal hernia, Bifid uterus, Epispadias, Cryptorchidism, Cystocele,... |
ORPHA:322 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Aplasia of the uterus, Hepatosplenomegaly |
OMIM:274000 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Elbow flexion contracture,... |
OMIM:276820 |
| Pallister-Killian Syndrome |
|
Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly of 2nd-5th fin... |
OMIM:601803 |
| Okamoto Syndrome |
|
Omphalocele, Bifid uterus, Splenomegaly, Abnormal helix morphology, Low-set ears, Macrotia |
ORPHA:2729 |
| Loeys-Dietz Syndrome |
|
Atypical scarring of skin, Camptodactyly of finger, Craniosynostosis, Uterine rupture |
ORPHA:60030 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Hepatitis, Hypoplasia of the thymus, Abnormal ductus choledochus morphology, Periton... |
ORPHA:436252 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
| Neurofibroma |
|
Enlargement of parotid gland, Abnormal biliary tract morphology, Abnormal cranial nerve morphology |
ORPHA:252183 |
| Vascular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Cigarette-paper scars, Cystocele, Aplasia/Hypoplasi... |
ORPHA:286 |
| Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Posteriorly rotated ears, Cleft at the superior portion of t... |
OMIM:614669 |
| Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Cleft helix, External ear malformat... |
ORPHA:137888 |
