| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
| Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Sensory ataxia, Paresthesia, Peripheral demyelination, Difficulty walking, Motor conduction block... |
ORPHA:2932 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... |
OMIM:606482 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Chorea, Axonal loss, Neurodegeneration, Cerebral atrophy, Ataxia, Cerebral cortical atr... |
OMIM:617672 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Mildly elevated creatine kinase, Degeneration of anterior horn cells, Decreased number o... |
OMIM:604484 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... |
OMIM:202700 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Tremor, Depression, Chorea, Ataxia, Parkinsonism, Myoclonus, Anxiety, Upper motor neuro... |
ORPHA:401901 |
| Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... |
ORPHA:208981 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Gait ataxia, Delayed myelination, Hypoplasia of the corpus callosum, Hypertonia, Cerebellar vermi... |
ORPHA:543470 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Segmental peripheral demyelination, Onion bulb formation, Distal sensory impairment, Axonal degen... |
OMIM:606483 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign |
OMIM:160120 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... |
OMIM:607734 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Tremor, Dementia, Depression, Abnormality of extrapyramidal motor function, Ataxia, Emotional lab... |
OMIM:615362 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... |
OMIM:614561 |
| Null Syndrome |
|
Inability to walk, Difficulty walking, Decreased nerve conduction velocity, Demyelinating periphe... |
ORPHA:280234 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly |
ORPHA:2274 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... |
ORPHA:90793 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Sensory ataxia, Basal lamina onion bulb formation, Dif... |
OMIM:614895 |
| Spinocerebellar Ataxia Type 43 |
|
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Cerebellar vermis atrophy... |
ORPHA:497764 |
| Optic Atrophy 2 |
|
Dysdiadochokinesis, Tremor, Babinski sign |
OMIM:311050 |
| Functioning Gonadotropic Adenoma |
|
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Ascites, Pituitary gonadotrop... |
ORPHA:91348 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Steppage gait, Axonal regeneration, Distal sensory impairment, Onion bulb formation |
OMIM:615185 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Clumsiness, Rigidity, Frequent falls, Depression, Violent behavior, Chorea, Gait disturba... |
ORPHA:216873 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Distal sensory impairment, Onion bulb formation |
OMIM:616039 |
| Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... |
ORPHA:280397 |
| Developmental And Epileptic Encephalopathy 56 |
|
Poor coordination, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Broad-based gait |
OMIM:617665 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Dementia, Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar at... |
ORPHA:85292 |
| Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
| Huntington Disease-Like 2 |
|
Dystonia, Dementia, Depression, Chorea, Apathy, Weight loss, Bradykinesia, Action tremor, Irritab... |
OMIM:606438 |
| Spinocerebellar Ataxia 43 |
|
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... |
OMIM:617018 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia |
OMIM:613227 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Astrocytosis, Dystonia, Basal ganglia gliosis, Hypertonia, Tetraparesis, Rigidity, Spasticity, At... |
ORPHA:225154 |
| Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, CNS demyelination, Ataxia, Peripheral demyelination |
OMIM:165200 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Cerebellar atrophy, Hepatic failure,... |
OMIM:616719 |
| Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination, Pain insensitivity, Impaired tactile sensation |
OMIM:147530 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Onion bulb formation, Dist... |
OMIM:601098 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Dementia, Depression, Chorea, Weight loss, Ataxia, Bradykinesia, Progressi... |
ORPHA:248111 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Hypercholesterolemia, Azoospermia, Oligospermia, Hepatic steatosis, Hypertriglycerid... |
OMIM:615703 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Peripheral demyelination, Decreased number of peripher... |
OMIM:118200 |
| Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... |
OMIM:612964 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired tactile sensati... |
ORPHA:99953 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Cognitive impairment, Spasticity |
OMIM:611105 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Limb ataxia, Oculomot... |
OMIM:208920 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Gait ataxia, Decreased number of peripheral myelinated... |
OMIM:180800 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Cerebellar hypoplasia, Ataxia |
OMIM:213000 |
| Non-Functioning Pituitary Adenoma |
|
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... |
ORPHA:91349 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... |
ORPHA:98769 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hepatomegaly, Hypertriglyceridem... |
OMIM:615924 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Peripheral demyelination, Onion bulb formation, Distal sensory impairment, Decreased number of la... |
OMIM:608340 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Apraxia, Tremor, Dementia, Depression, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:615889 |
| Androgen Insensitivity Syndrome |
|
Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrhea, Inguinal hernia... |
OMIM:300068 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118220 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Basal lamina onion ... |
OMIM:601596 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Dementia, Abnormality of extrapyramidal... |
ORPHA:79262 |
| Spinocerebellar Ataxia 48 |
|
Dystonia, Tremor, Gait ataxia, Depression, Chorea, Ataxia, Cerebellar atrophy, Irritability, Anxi... |
OMIM:618093 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... |
ORPHA:90796 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Spasticity, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Reduced subcutaneous adipose ti... |
ORPHA:280356 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of p... |
OMIM:607677 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Steppage gait, Axonal regeneration, Distal sensory impairment, Decreased number of peripheral mye... |
OMIM:607731 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Optic atrophy, Mental deterioration |
OMIM:610951 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... |
ORPHA:289548 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... |
ORPHA:168558 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Irritability, Spastic tetraplegia, Babinski sign, Hyperactivity |
OMIM:616657 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Axial dystonia, Dementia, Depression, Head tremor, Action tremor, Progressive... |
OMIM:604326 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... |
OMIM:273250 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... |
OMIM:612310 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased number of periph... |
OMIM:609311 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... |
OMIM:118210 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gliosis, Gait disturbance, Cerebral atrophy, Axonal loss, Caudate atrophy, Abnormal upper motor n... |
OMIM:221770 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Degeneration of the lateral corticospinal tracts, Apraxia, Gliosis, Abnormality of extrapyramidal... |
ORPHA:275872 |
| Creutzfeldt-Jakob Disease |
|
Gait ataxia, Extrapyramidal muscular rigidity, Dementia, Depression, Apathy, Hemiparesis, Abnorma... |
OMIM:123400 |
| Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... |
OMIM:619146 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... |
ORPHA:79506 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Blind vagina, Elevated circulating luteinizing ... |
ORPHA:99429 |
| Post-Traumatic Pituitary Deficiency |
|
Infertility, Panhypopituitarism, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr... |
ORPHA:95619 |
| Spastic Paraplegia Type 7 |
|
Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Lower limb hypertonia, Cerebr... |
ORPHA:99013 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Sensory ataxia, Decreased motor nerve conduction velocity, Decreased number of peripheral myelina... |
OMIM:145900 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity |
ORPHA:217012 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... |
ORPHA:251282 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... |
OMIM:612885 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... |
ORPHA:251510 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy, Dysesthesia |
ORPHA:98916 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Cerebellar atrophy, Unsteady gait, Frequent falls |
OMIM:615945 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Difficulty walking, Steppage gait, Onion bulb formation |
OMIM:618279 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Dementia, Gait disturbance, Poor fine motor coordination, Abnorm... |
ORPHA:98762 |
| Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis, Clumsiness, Global brain atrophy, Spastic hemiparesis, Diffuse spongiform leukoence... |
ORPHA:282166 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral demyelination, Chorea, Cerebral atrophy, Pe... |
OMIM:604168 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Unsteady gait, Cerebell... |
OMIM:615768 |
| Spinocerebellar Ataxia 25 |
|
Abolished vibration sense, Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebe... |
OMIM:608703 |
| Premature Ovarian Failure 16 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... |
OMIM:618723 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy |
ORPHA:423296 |
| Mental Retardation, Autosomal Dominant 33 |
|
Short stature, Decreased body weight, Hyperactivity |
OMIM:616311 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal response to ACTH stimulation test, Cryptorchidism, Bulbous nose, Abnormal response to hu... |
ORPHA:95699 |
| Galactokinase Deficiency |
|
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... |
ORPHA:79237 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... |
OMIM:214400 |
| Premature Ovarian Failure 18 |
|
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... |
OMIM:619203 |
| Spinocerebellar Ataxia Type 28 |
|
Kinetic tremor, Dystonia, Gait ataxia, Depression, Head tremor, Limb ataxia, Parkinsonism, Limb d... |
ORPHA:101109 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, Im... |
OMIM:610100 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Difficulty walking, Onion bulb formation, Peripheral axonal neuropathy, Distal sensory impairment... |
OMIM:615035 |
| Partial Chromosome Y Deletion |
|
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... |
ORPHA:1646 |
| Rft1-Cdg |
|
Cerebral atrophy, Ataxia, Hepatomegaly, Cerebral cortical atrophy, Failure to thrive |
ORPHA:244310 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Reduced sperm motility, Corpus callosum atrophy, Truncal ataxia, Abnormal sperm head... |
ORPHA:320391 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Gait ataxia, Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination, Me... |
OMIM:249900 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Olivopontocerebellar atrophy, Ataxia |
OMIM:258300 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Depression, Difficulty walking, Ataxia, Myoclonus, Dysmetria, Anxiety, Mental deterioration, Atte... |
OMIM:619191 |
| Hypogonadism-Cataract Syndrome |
|
Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona... |
OMIM:240950 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Gait disturbance, Onion bulb formation, Distal sensory impairment, Optic atrophy, Segmental perip... |
OMIM:311070 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... |
ORPHA:90797 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Gait disturbance, Peripheral hypomyelination, Axonal l... |
OMIM:611228 |
| Spinocerebellar Ataxia Type 25 |
|
Gait ataxia, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Decreased number of large... |
ORPHA:101111 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced nat... |
OMIM:608898 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... |
OMIM:614470 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... |
ORPHA:363710 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Gliosis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal p... |
ORPHA:204 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Oligomenorrhea, Amenorrhea, Hepatic steatosis,... |
ORPHA:528 |
| Krabbe Disease |
|
Peripheral demyelination, Autoimmune thrombocytopenia, Neurodegeneration, Motor deterioration, CN... |
OMIM:245200 |
| Mucolipidosis Iv |
|
Dystonia, Abnormal abdomen morphology, Corneal opacity, Cerebral dysmyelination, Dysplastic corpu... |
OMIM:252650 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Oral avers... |
ORPHA:470 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Dystonia, Difficulty walking, Axonal loss, Ataxia, Peripheral demyelination |
OMIM:616684 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia |
OMIM:616871 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy, Anxiety |
OMIM:141500 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera... |
OMIM:609260 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Gait ataxia, Aggressive behavior, Dementia, Impaired vibratory sensation, Imp... |
OMIM:617225 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia, CNS demyelination, Peripheral demyelination |
OMIM:250850 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Dementia, Toe walking, Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Cog... |
ORPHA:2386 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... |
ORPHA:412066 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Positive Romberg sign, Gait ataxia, Distal sensory impairment, Peripheral demyelination, Optic at... |
OMIM:258650 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of the menstrual cycle, Ambiguous genitalia, Elevated circulating luteinizing hormone... |
OMIM:400044 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Gait disturbance, Distal sensory impairment, Peripheral demy... |
ORPHA:99944 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Impaired distal proprioception, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Cerebellar atrophy, Myoclonus, Mental deterioration |
OMIM:616187 |
| Huntington Disease-Like 2 |
|
Dystonia, Chorea, Gait disturbance, Weight loss, Parkinsonism, Involuntary movements |
ORPHA:98934 |
| Aarskog-Scott Syndrome |
|
Cryptorchidism, Elevated circulating luteinizing hormone level, Short nose, Bilateral cryptorchid... |
OMIM:305400 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Huntington Disease |
|
Decreased body mass index, Dystonia, Clumsiness, Poor fine motor coordination, Weight loss, Rigid... |
ORPHA:399 |
| Spinocerebellar Ataxia 14 |
|
Gait ataxia, Depression, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, F... |
OMIM:605361 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Axonal degeneration/... |
OMIM:607791 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Difficulty walking, Decreased number of peripheral mye... |
OMIM:604563 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity, Cerebellar a... |
ORPHA:485421 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... |
ORPHA:2235 |
| Dystonia-Aphonia Syndrome |
|
Abnormal vocal cord morphology, Gait disturbance, Cerebral atrophy, Cerebellar atrophy, Unsteady ... |
ORPHA:412217 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Aggressive behavior, Hyperactivity |
OMIM:309548 |
| 46,Xx Gonadal Dysgenesis |
|
Increased circulating gonadotropin level, Pulmonary fibrosis, Streak ovary, Primary amenorrhea, A... |
ORPHA:243 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Recurrent upper respiratory tract infection... |
ORPHA:66628 |
| Autosomal Spastic Paraplegia Type 72 |
|
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Memory impairment, Rigidity |
ORPHA:401849 |
| Dystonia 11, Myoclonic |
|
Tremor, Depression, Agoraphobia, Writer's cramp, Torticollis, Myoclonus, Anxiety |
OMIM:159900 |
| Myotonic Dystrophy 2 |
|
Oligospermia, Hypogonadism, Elevated circulating creatine kinase concentration, Elevated circulat... |
OMIM:602668 |
| Huntington Disease-Like 1 |
|
Incoordination, Aggressive behavior, Dementia, Depression, Chorea, Unsteady gait, Anxiety, Dysmet... |
OMIM:603218 |
| Spinocerebellar Ataxia Type 27 |
|
Tremor, Gait ataxia, Truncal ataxia, Aggressive behavior, Akinesia, Depression, Difficulty walkin... |
ORPHA:98764 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Progressive neurologic deterioration, Dystonia, Tremor, Rigidity, Hypertonia, Ataxia, Bradykinesi... |
OMIM:261640 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... |
OMIM:605588 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Recurrent upper respiratory tract infection... |
ORPHA:179494 |
| Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Diabetes insipidus, Truncal obesity, Failure to thrive, Hypoplasia of penis... |
ORPHA:181393 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Dystonia, Decreased activity of mitochondrial complex III, Hypertonia, Abnormal mitochondrial sha... |
ORPHA:17 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618086 |
| Temple Syndrome |
|
Cryptorchidism, Maturity-onset diabetes of the young, Hypercholesterolemia, Overweight, Flexion c... |
OMIM:616222 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Gait disturbance, Neurodegeneration, Toe walking, Bradykinesia, Motor axonal neuropathy... |
OMIM:615643 |
| Mental Retardation, Autosomal Recessive 37 |
|
Spasticity, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ... |
OMIM:301033 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Distal sensory im... |
OMIM:608673 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short stature, Hyperactivity |
DECIPHER:19 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Mildly elevated creatine kinase, Distal sensory impair... |
OMIM:615376 |
| Gangliocytoma |
|
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Paresthesi... |
ORPHA:251937 |
| Parkinson Disease 14, Autosomal Recessive |
|
Dystonia, Apraxia, Clumsiness, Tremor, Aggressive behavior, Depression, Mental deterioration, Fro... |
OMIM:612953 |
| Mental Retardation, Autosomal Dominant 52 |
|
Anxiety, Hyperactivity |
OMIM:617796 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive in infancy... |
OMIM:232700 |
| Corticobasal Syndrome |
|
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Dementia, Gait distur... |
ORPHA:454887 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... |
ORPHA:314632 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor |
OMIM:608687 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Cerebral atrophy, Neuro... |
OMIM:615157 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... |
OMIM:301059 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Peripheral demyelination |
OMIM:607736 |
| 49,Xxxyy Syndrome |
|
Ambiguous genitalia, Male hypogonadism, Eunuchoid habitus, Increased circulating gonadotropin lev... |
ORPHA:261534 |
| Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Gait ataxia, Primary amenorrhea, Cerebellar atrophy, Go... |
OMIM:233400 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:619245 |
| Spinocerebellar Ataxia 29 |
|
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... |
OMIM:117360 |
| Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:162600 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign |
OMIM:300660 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria |
OMIM:617917 |
| Progressive Non-Fluent Aphasia |
|
Astrocytosis, Apraxia, Temporal cortical atrophy, Abnormality of extrapyramidal motor function, S... |
ORPHA:100070 |
| Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Leukodystrophy, Hyperglycinemia, Spastic ataxia, Hypoplasia of the corpus callosum, Gait disturba... |
OMIM:616859 |
| Apolipoprotein A-I Deficiency |
|
Hemiplegia/hemiparesis, Anemia, Splenomegaly, Decreased HDL cholesterol concentration, Abnormalit... |
ORPHA:425 |
| 49,Xyyyy Syndrome |
|
Male hypogonadism, Azoospermia, Increased circulating gonadotropin level, Recurrent upper respira... |
ORPHA:99330 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tremor, Microvesicular hepatic steatosis, Gliosis, Increased hepatocellular lipid droplets, Ataxi... |
OMIM:220111 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... |
OMIM:618664 |
| Neuromyelitis Optica Spectrum Disorder |
|
Somatic sensory dysfunction, Neuronal loss in central nervous system, Peripheral demyelination |
ORPHA:71211 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Astrocytosis, Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steat... |
OMIM:203700 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Dementia, Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks |
ORPHA:308 |
| Lichtenstein-Knorr Syndrome |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria |
OMIM:616291 |
| Interstitial Lung And Liver Disease |
|
Cirrhosis, Intraalveolar phospholipid accumulation, Dyspnea, Elevated hepatic transaminase, Hepat... |
OMIM:615486 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... |
ORPHA:168563 |
| Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Hepatomegaly, Hypertriglyceridemia, Sea-blue histiocytosis, Splenomegaly,... |
OMIM:607616 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Cer... |
ORPHA:98763 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Hyperalaninemia, Elevated hepatic transaminase, Failure to thrive |
OMIM:614582 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Lipodystrophy,... |
OMIM:604367 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls |
ORPHA:494526 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal aggressive, impulsive or violent behavior, Tremor, Bipolar affective disorder, Aggressiv... |
ORPHA:3077 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Tremor, Incoordination, Hand tremor, Paraparesis, Decr... |
OMIM:302800 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls |
OMIM:616921 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Cognitive impairment, Rigi... |
OMIM:615528 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Clumsiness, Hoffmann sign, Abnormal midbrain morp... |
ORPHA:206448 |
| Ane Syndrome |
|
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... |
ORPHA:157954 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Oligomenorrhea, Irregular menstru... |
ORPHA:370 |
| Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase |
OMIM:606664 |
| Mehmo Syndrome |
|
Male hypogonadism, Gait ataxia, Hypoplasia of the corpus callosum, Decreased response to growth h... |
OMIM:300148 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Mental deterioration, Depression, Chorea, G... |
OMIM:213600 |
| Pituitary Apoplexy |
|
Elevated circulating growth hormone concentration, Abnormal caudate nucleus morphology, Increased... |
ORPHA:95613 |
| Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Ele... |
OMIM:618187 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... |
ORPHA:101110 |
| Hsd10 Mitochondrial Disease |
|
Cerebral cortical atrophy, Spastic tetraplegia, Abnormal mitochondrial morphology, Optic atrophy,... |
OMIM:300438 |
| Spermatogenic Failure 35 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 18 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 20 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 19 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Infertility, Abnormal sperm morphology |
OMIM:608653 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy... |
ORPHA:163971 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Sensory ataxia, Impaired vibratory sensation, Spastic paraparesis, Decreased activity of mitochon... |
OMIM:500013 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Cerebellar atrophy, Ataxia, Spasticity |
OMIM:616494 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Diffuse axonal swelling, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, D... |
OMIM:602433 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility |
OMIM:619102 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... |
ORPHA:314978 |
| Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells |
OMIM:600333 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Depression, Ataxia, Spasticity |
OMIM:614307 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Tremor, Mental deterioration, Parkinsonism with favorable response to dopaminergic medi... |
ORPHA:240085 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Elevated hepatic transaminase, Hypoplasia of the corpus callosum, Chol... |
OMIM:618528 |
| Smith-Magenis syndrome |
|
Stereotypy, Self-mutilation, Short stature, Hyperactivity |
DECIPHER:8 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Depression, Resting tremor, Bradykinesia, Parkinsonism, Anxiety, Rigidity |
OMIM:605909 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... |
ORPHA:52901 |
| Gordon Holmes Syndrome |
|
Infertility, Oligomenorrhea, Cerebral atrophy, Ataxia, Cerebellar atrophy, Hypogonadotropic hypog... |
OMIM:212840 |
| Joubert Syndrome 26 |
|
Panhypopituitarism, Anteverted nares, Recurrent upper respiratory tract infections, Cerebellar ve... |
OMIM:616784 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... |
OMIM:614837 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Dysdiadochokinesis, Dystonia, Tremor, Gait ataxia, Limb ataxia, Gait disturbance, Abnormal pyrami... |
OMIM:617145 |
| Pseudo-Torch Syndrome 1 |
|
Thrombocytopenia, Pachygyria, Elevated hepatic transaminase, Cerebellar hypoplasia, Hepatomegaly,... |
OMIM:251290 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Reduced circulating prolactin concentr... |
OMIM:262600 |
| Panhypophysitis |
|
Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal size of pituitary glan... |
ORPHA:95513 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Difficulty walking, Peripheral hy... |
OMIM:605285 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Progressive neurologic deterioration, Dystonia, Tremor, Hypertonia, Irritability, Myoclonus, Chor... |
OMIM:261630 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Mantle Cell Lymphoma |
|
Weight loss, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Male hypogonadism, Camptodactyly, Increased female libido, Delayed puberty, Secon... |
ORPHA:432 |
| Fraxe Intellectual Disability |
|
Clumsiness, Aggressive behavior, Impulsivity, Short stature, Hyperactivity, Intrauterine growth r... |
ORPHA:100973 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Hepatic steatosis, Increase... |
ORPHA:435660 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Segawa Syndrome, Autosomal Recessive |
|
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... |
OMIM:605407 |
| Gilles De La Tourette Syndrome |
|
Self-mutilation, Aggressive behavior, Motor tics, Attention deficit hyperactivity disorder, Phoni... |
OMIM:137580 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Elevated circulating luteinizing h... |
OMIM:612965 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia |
OMIM:619108 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin |
OMIM:235900 |
| Ataxia-Pancytopenia Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal platelet function, Abnormality of neutrophils, Abn... |
ORPHA:2585 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... |
OMIM:611302 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Progressive gait ataxia, Difficulty walking, Progressive cerebellar ataxia, Cerebella... |
ORPHA:284332 |
| Myoclonus-Dystonia Syndrome |
|
Spinal myoclonus, Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torti... |
ORPHA:36899 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Short stature, Cognitive ... |
OMIM:614947 |
| Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia |
OMIM:619281 |
| Glut1 Deficiency Syndrome 2 |
|
Dystonia, Tremor, Ataxia, Irritability, Cognitive impairment, Choreoathetosis |
OMIM:612126 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Infertility, Abnormal sperm morphology |
OMIM:615081 |
| Diaminopentanuria |
|
Neurodegeneration, Ataxia |
OMIM:222350 |
| Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Hypocalcemia, Pseudohypoparathyroidism, Cerebral calcification, Choroid plexus... |
ORPHA:79444 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Progressive neurologic deterioration, Leukodystrophy, Corpus callosum atrophy, Symmetric peripher... |
OMIM:169500 |
| Dystonia, Dopa-Responsive |
|
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... |
OMIM:128230 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis,... |
OMIM:212065 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Delayed puberty, Anemia, Elevated circulating creatine kinase concentration... |
ORPHA:264580 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... |
ORPHA:399805 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia |
ORPHA:2688 |
| Ring Chromosome Y Syndrome |
|
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... |
ORPHA:261529 |
| Combined Saposin Deficiency |
|
Hyperkinetic movements, Hepatomegaly, Myoclonus, Babinski sign, Splenomegaly, Fasciculations, Neu... |
OMIM:611721 |
| Spinocerebellar Ataxia 42 |
|
Tremor, Depression, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal si... |
OMIM:616795 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Bulbous nose, Decreased serum testoster... |
OMIM:300869 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Aggressive behavior, Small for gestational age, Anxiety, Stereotypy, Failure to thri... |
OMIM:609425 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... |
ORPHA:276193 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Gerstmann-Straussler Disease |
|
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Aggressive behavior, Depression, Dementia, Limb ata... |
OMIM:137440 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Maternal diabetes, Oligomenorrhea, Hepatic steatosis, Lipoatrophy, Hyperuricemia, Prim... |
ORPHA:79083 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria |
OMIM:616127 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Short stature... |
OMIM:213200 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Lipodystrophy, Primary amenorrhea, Hepatom... |
OMIM:612526 |
| Developmental And Epileptic Encephalopathy 36 |
|
Delayed myelination, Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal pyr... |
OMIM:300884 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Respiratory insufficiency, Decreased activity of mitochondrial complex IV, Abnormal mitochondrial... |
OMIM:618378 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycystic ovaries, Hepatomegaly, Hype... |
ORPHA:2348 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase |
OMIM:306000 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Dystonia, Gait ataxia, Tremor, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... |
OMIM:607317 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... |
OMIM:600882 |
| Spermatogenic Failure 46 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... |
OMIM:619095 |
| Oliver-Mcfarlane Syndrome |
|
Cryptorchidism, Delayed puberty, Small for gestational age, Hypoplasia of penis, Hypogonadotropic... |
OMIM:275400 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Depression, Resting tremor, Bradykinesia, Emotional lability, Craniofacial dystonia,... |
ORPHA:71517 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity |
OMIM:618090 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Adenohypophysitis |
|
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... |
ORPHA:95512 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Abnormal cerebellum morpholo... |
OMIM:270500 |
| Spermatogenic Failure 7 |
|
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia |
OMIM:612997 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... |
OMIM:610245 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... |
ORPHA:226307 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis |
OMIM:618425 |
| Premature Ovarian Failure 9 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea |
OMIM:615724 |
| Insulin-Like Growth Factor I Deficiency |
|
Intrauterine growth retardation, Short stature, Decreased body weight, Hyperactivity |
OMIM:608747 |
| Multiple Sulfatase Deficiency |
|
Abnormal periventricular white matter morphology, Peripheral demyelination, Cerebral atrophy, Cor... |
OMIM:272200 |
| Spermatogenic Failure 54 |
|
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... |
OMIM:619379 |
| 47,Xyy Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... |
ORPHA:8 |
| Cystinosis, Nephropathic |
|
Decreased plasma carnitine, Exocrine pancreatic insufficiency, Hypophosphatemic rickets, Cerebral... |
OMIM:219800 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Gait disturbance, Brain atrophy, Onion bulb formation, Distal sensory impairment, Decreased nerve... |
OMIM:615284 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy |
OMIM:182815 |
| Meningioma |
|
Enlarged pituitary gland, Pituitary hypothyroidism, Obesity, Abnormality on pulmonary function te... |
ORPHA:2495 |
| Sheehan Syndrome |
|
Pituitary hypothyroidism, Abnormal size of pituitary gland, Obesity, Adrenocorticotropin deficien... |
ORPHA:91355 |
| Pandas |
|
Claustrophobia, Clumsiness, Depression, Tics, Chorea, Agoraphobia, Emotional lability, Separation... |
ORPHA:66624 |
| Spastic Paraplegia 35, Autosomal Recessive |
|
Dystonia, Difficulty walking, Neurodegeneration, Ataxia, Cerebellar atrophy, Dysmetria, Atrophy/D... |
OMIM:612319 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... |
ORPHA:2410 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... |
ORPHA:572333 |
| Galloway-Mowat Syndrome 5 |
|
Peripheral demyelination, Ataxia, Brain atrophy |
OMIM:617731 |
| Spinocerebellar Ataxia 17 |
|
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Aggressive behavior, Dementia, Depression,... |
OMIM:607136 |
| Spermatogenic Failure 43 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... |
OMIM:619094 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Babinski sign, Dysmetria |
OMIM:607458 |
| Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment |
OMIM:615048 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Mildly elevated creatine kinase, Decreased nerve conduction velocity, Mitochondrial swell... |
ORPHA:397744 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... |
OMIM:607080 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Spasticity, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Clon... |
ORPHA:397946 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... |
ORPHA:98807 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Axonal loss, Onion bulb formation, Distal sensory impairment, Decreased nerve c... |
OMIM:601455 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... |
ORPHA:163976 |
| Mental Retardation, Autosomal Dominant 55, With Seizures |
|
Tremor, Gait ataxia |
OMIM:617831 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Astrocytosis, Dystonia, Hypertonia, Poor fine motor coordination, Jaundice, Decreased circulating... |
ORPHA:309854 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| 4H Leukodystrophy |
|
Dysdiadochokinesis, Progressive gait ataxia, Hypoplasia of the corpus callosum, Dysphagia, Ataxia... |
ORPHA:289494 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Oligomenorrhea, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabe... |
ORPHA:435651 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis, Cerebral cortical atrophy, Myoclonus, Stereotypy, Babinski sign, Rigidity, Neuronal... |
OMIM:600795 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... |
OMIM:618643 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Hypogonadism, Abnormality of the ovary |
ORPHA:1875 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Atrophy/Degeneration a... |
OMIM:617862 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Torsion dystonia, Dystonia, Paresthesia, Aggressive behavior, Chorea, Paroxysmal dyskinesia, Atax... |
ORPHA:98811 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Apathy, Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity... |
ORPHA:306692 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Tremor, Disinhibition, Rigidity, Dementia, Chorea, Subcortical dementia, Blepharospasm,... |
OMIM:606159 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Azoospermia, Cryptozoospermia |
OMIM:617960 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Hepatic steatosis, Lipodyst... |
ORPHA:79085 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... |
ORPHA:98797 |
| Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Hypocalcemia, Pseudohypoparathyroidism, Cerebral calcification, Choroid plexus... |
ORPHA:79443 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... |
OMIM:607346 |
| Tangier Disease |
|
Impaired pain sensation, Decreased HDL cholesterol concentration, Impaired temperature sensation,... |
OMIM:205400 |
| Dystonia 3, Torsion, X-Linked |
|
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... |
OMIM:314250 |
| Cln5 Disease |
|
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Aggre... |
ORPHA:228360 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Tremor, Aggressive behavior, Growth delay, Oculomotor apraxia, Ataxia, Hyperactivity, C... |
OMIM:612716 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... |
OMIM:619177 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Cerebellar... |
OMIM:616948 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Spastic a... |
OMIM:270550 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Dementia, Depression, Chorea, Apathy, Parkinsonism, Anxiety, Cognitive impairment, Athetosis, Mot... |
OMIM:615483 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... |
OMIM:610921 |
| Hodgkin Lymphoma |
|
Weight loss, Ataxia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:98293 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb apraxia, Tremor, Apraxia, Mental deterioration, Parkinsonism with favorable response to dopa... |
ORPHA:240103 |
| Carney Complex |
|
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Bronchog... |
ORPHA:1359 |
| Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Bulbous nose, Truncal obesity, Failure to thrive, Decreased testicular size, Hypo... |
ORPHA:261483 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Hyperlipoproteinemia, Failure to thrive, Splenomegaly |
OMIM:615947 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Gait ataxia, Oligomenorrhea, Hypoplasia of the uterus, ... |
OMIM:615300 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... |
ORPHA:464440 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... |
OMIM:613101 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616366 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Tremor, Aggressive behavior, Dementia, Abnormality of extrapyramidal motor function, Sp... |
OMIM:300894 |
| Fragile X Tremor/Ataxia Syndrome |
|
Dysdiadochokinesis, Postural tremor, Gait ataxia, Disinhibition, Dementia, Depression, Intention ... |
OMIM:300623 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic h... |
OMIM:203800 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... |
OMIM:614172 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... |
OMIM:610913 |
| Perry Syndrome |
|
Dystonia, Tremor, Disinhibition, Akinesia, Depression, Apathy, Frontotemporal dementia, Bradykine... |
OMIM:168605 |
| Spinocerebellar Ataxia 35 |
|
Incoordination, Difficulty walking, Ataxia, Torticollis, Cerebellar atrophy, Dysmetria, Intention... |
OMIM:613908 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... |
ORPHA:98798 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Hepatomegaly, Jaundi... |
OMIM:603552 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Elevated c... |
OMIM:618387 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Impaired distal vibr... |
OMIM:614436 |
| Spinocerebellar Ataxia Type 40 |
|
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... |
ORPHA:423275 |
| Behr Syndrome |
|
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... |
OMIM:210000 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Tremor, Ataxia |
OMIM:618951 |
| Ovarian Dysgenesis 2 |
|
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... |
OMIM:300510 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... |
ORPHA:529970 |
| Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility |
OMIM:618670 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Vacuolated lymphocytes, Hypersplenism, Leukopenia, Anemia, Bone-marrow foam... |
OMIM:278000 |
| Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
| Chorea, Benign Hereditary |
|
Chorea, Gait disturbance, Anxiety |
OMIM:118700 |
| Cach Syndrome |
|
T2 hypointense thalamus, Arthrogryposis multiplex congenita, Secondary amenorrhea, Cerebellar ver... |
ORPHA:135 |
| Urocanase Deficiency |
|
Tremor, Short stature, Ataxia, Aggressive behavior |
OMIM:276880 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Inguinal hernia, Abnormality of male internal genitalia, Abnormal circu... |
OMIM:261550 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Breast aplasia, Decreased serum testosterone conc... |
ORPHA:3044 |
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Basal ganglia cysts, Delayed myelination, Decreased activity of mitochondrial complex III, Global... |
OMIM:609060 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor |
OMIM:302500 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Progressive psychomotor... |
ORPHA:1170 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Tremor, Dystonia, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atrophy, Progressive i... |
ORPHA:521406 |
| Leydig Cell Hypoplasia |
