| 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 |
|
Spontaneous pain sensation, Motor conduction block, Sensory ataxia, Decreased nerve conduction ve... |
ORPHA:2932 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/rem... |
OMIM:601098 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, D... |
OMIM:604484 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... |
OMIM:214400 |
| Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Acroparesthesia, Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Progressive ga... |
ORPHA:208981 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Parkinsonism, Rigidity, Memory impa... |
ORPHA:401901 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Mental deterioration, Neurodegeneration, Cho... |
OMIM:617672 |
| Null Syndrome |
|
Abnormal cerebellum morphology, Ataxia, Demyelinating peripheral neuropathy, Decreased nerve cond... |
ORPHA:280234 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Abnormal cerebellum morphology, Ataxia, Mental deterioration, Depression, Myoclonus, Babinski sig... |
OMIM:615362 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Mental deterioration, Abnormal pyramidal sign, Gait disturbance, Tremor, Spas... |
OMIM:614561 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased sensory nerve conduction velocity, Decreased nerve conduction v... |
ORPHA:206594 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Distal sensory impairment... |
OMIM:606483 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... |
OMIM:614895 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Cerebellar vermis atrophy, Progress... |
ORPHA:497764 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration, Distal sensory impairment, Steppage gait |
OMIM:615185 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... |
ORPHA:91348 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Distal sensory impairment, Steppage gait |
OMIM:616039 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Impulsivity, Irritability, Cognitive impairment, Emotional la... |
ORPHA:216873 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Memory impairment, Difficulty walking, Po... |
ORPHA:85292 |
| Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... |
OMIM:617018 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Broad-based gait, Myelin tomacula, Decreased sensory nerve conduction velocity, Sensory ataxia, S... |
OMIM:145900 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Limb ataxia, Axonal degener... |
OMIM:208920 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Ataxia, Peripheral demyelination, CNS demyelination |
OMIM:165200 |
| Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination, Pain insensitivity, Impaired tactile sensation |
OMIM:147530 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Gait imbalance, Loss of ambulation, Motor conduction block, Demyelinating peripheral neuropathy, ... |
ORPHA:99953 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Loss of ambulation, Impaired vibratory sensation, Decreased number of ... |
ORPHA:101097 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Oligospermia, De... |
OMIM:615703 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Distal senso... |
OMIM:118200 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Cognitive impairment, Babinski sign, Tremor, Spasticity |
OMIM:611105 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Hepatomegaly, Splenomegaly, Hepatic failure, Distal sensory impairment, Frequent falls, T... |
OMIM:616719 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:180800 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
| Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Blind vagina, Inguinal hernia, Elevated circulating luteinizing hormone level,... |
OMIM:300068 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Distal sensor... |
OMIM:608340 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... |
OMIM:612964 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Depression, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia, Dementia |
OMIM:615889 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Cerebral atrophy, Mental deterioration, Neurodegeneration, Optic atrophy, Cerebellar atrophy |
OMIM:610951 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ... |
OMIM:607677 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gliosis, Cerebral atrophy, Caudate atrophy, Memory impairment, Frontal lobe dementia, Gait distur... |
OMIM:221770 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... |
ORPHA:79262 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Failure to thrive, Ataxia, Hypertonia, Delayed myelination, Abnormal mitochondrial shape, Optic a... |
ORPHA:543470 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Mental deterioration, Cachexia, Depression, Babinski sign, Parkinsonism, Anxie... |
OMIM:618093 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hepatomegaly, Hyperactivity, Mental deterioration, Myoclonus, Abnormal pyramidal sign, Te... |
OMIM:615924 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... |
OMIM:607731 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... |
ORPHA:280356 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Peripheral hypomyelination, Hypoesthesia, Onion bulb formation, Decreased motor nerve conduction ... |
OMIM:609311 |
| Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Failure to thrive, Ataxia, Hypertonia, Loss of ambulation, Atrophy/Degeneration involving the cau... |
ORPHA:225154 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Difficulty walking, Steppage gait |
OMIM:618279 |
| Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production, Impotence, Decreased fertility in males, Central adrenal insuffi... |
ORPHA:91349 |
| Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy |
OMIM:615945 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
| Creutzfeldt-Jakob Disease |
|
Abnormal cerebellum morphology, Apathy, Extrapyramidal muscular rigidity, Depression, Myoclonus, ... |
OMIM:123400 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Post-Traumatic Pituitary Deficiency |
|
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... |
ORPHA:95619 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Depression, Dysdiadochok... |
OMIM:604326 |
| Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Dysesthesia, Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy |
ORPHA:98916 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
ORPHA:217012 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
| Spinocerebellar Ataxia Type 25 |
|
Abnormal cerebellar cortex morphology, Decreased number of large peripheral myelinated nerve fibe... |
ORPHA:101111 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Cognitive impairment, ... |
OMIM:604168 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy |
ORPHA:423296 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... |
OMIM:610100 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Cognitive impairment, Onion bulb formation, Peripheral axonal neuropathy, Distal sensory impairme... |
OMIM:615035 |
| Huntington Disease-Like 2 |
|
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Weight loss, Dystonia... |
OMIM:606438 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Mental deterioration, Gait ataxia, CNS demyelination, Periph... |
OMIM:249900 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Cognitive impairment, Ankle clonus, Babinski sign, Cerebellar hypoplasia, Truncal at... |
OMIM:615768 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Distal sensory impairment... |
OMIM:311070 |
| Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
| Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Cir... |
ORPHA:528 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Impaired distal tactile sensation, Onion bulb formation, Decreased motor nerve conduction velocit... |
OMIM:607706 |
| Rft1-Cdg |
|
Failure to thrive, Ataxia, Cerebral cortical atrophy, Hepatomegaly, Cerebral atrophy |
ORPHA:244310 |
| Mucolipidosis Iv |
|
Abnormal abdomen morphology, Corneal opacity, Dysplastic corpus callosum, Cerebral dysmyelination... |
OMIM:252650 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Abnormal cerebellum morphology, Action tremor, Poor fine motor coordination, Bradykinesia... |
ORPHA:98762 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor, Cerebellar atrophy |
OMIM:141500 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Mental deterioration, Oni... |
OMIM:609260 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
| Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Tip-toe gait, Cognitive impairment, Decreased number of peripheral myelinated nerve fibers, Unste... |
ORPHA:2386 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia |
OMIM:616871 |
| Huntington Disease-Like 2 |
|
Parkinsonism, Chorea, Gait disturbance, Involuntary movements, Weight loss, Dystonia |
ORPHA:98934 |
| Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Cognitive impairment, Depression, Babinski sign, Parkinsonism, Rigidity, Memory impa... |
ORPHA:101109 |
| Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Distal sensory impairment, Decreased nerve conduction velocity, Peripheral demy... |
ORPHA:99944 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Hyp... |
OMIM:608898 |
| Krabbe Disease |
|
Decreased nerve conduction velocity, Autoimmune thrombocytopenia, Neurodegeneration, Optic atroph... |
OMIM:245200 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Oral aversion, Hepatic ... |
ORPHA:470 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Mental deterioration, Depression, Myoclonus, Anxiety, Difficulty walking, Atte... |
OMIM:619191 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Broad-based gait, Positive Romberg sign, Distal sensory impairment, Optic atrophy, Gait ataxia, P... |
OMIM:258650 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Ataxia, Cerebral cortical atrophy, Impaired vibration sensation at ankles, Cerebral ... |
ORPHA:320391 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Mental deterioration, Depression, Dysdiadochokinesis, Abnormal pyramidal sign, Park... |
OMIM:213600 |
| Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Mental deterioration, Myoclonus, Tremor, Cerebellar atrophy |
OMIM:616187 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Impaired distal proprioception, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... |
ORPHA:248111 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad... |
ORPHA:66628 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... |
ORPHA:2235 |
| 46,Xx Gonadal Dysgenesis |
|
Ataxia, Streak ovary, Microcephaly, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of... |
ORPHA:243 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Mental deterioration, Babinsk... |
OMIM:617225 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
| 46,Xy Sex Reversal 1 |
|
Sex reversal, Abnormality of male external genitalia, Elevated circulating luteinizing hormone le... |
OMIM:400044 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:604563 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor... |
OMIM:607791 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Dista... |
OMIM:605588 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... |
ORPHA:95699 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics, D... |
OMIM:615483 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, Hypo... |
OMIM:162500 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Memory impairment, Falls, Ab... |
ORPHA:412066 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Microcephaly, Truncal obesity,... |
ORPHA:181393 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... |
OMIM:615157 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
| Huntington Disease-Like 1 |
|
Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordinat... |
OMIM:603218 |
| Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Gliosis, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function... |
ORPHA:275872 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Babinski sign, Chore... |
ORPHA:282166 |
| Spastic Paraplegia Type 7 |
|
Cerebral cortical atrophy, Impaired vibration sensation in the lower limbs, Babinski sign, Abnorm... |
ORPHA:99013 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Hypercholesterole... |
OMIM:301033 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Axonal degeneration/regeneration, Distal sensory impairment, Peripheral demyelination, Steppage gait |
OMIM:607736 |
| Gangliocytoma |
|
Amenorrhea, Abnormality of the pituitary gland, Pituitary null cell adenoma, Impotence, Abnormal ... |
ORPHA:251937 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Hand tremor, Limb ataxia, Depression, Truncal ataxia, Memory impairment, Gait disturban... |
ORPHA:98764 |
| Perrault Syndrome 1 |
|
Ataxia, Primary amenorrhea, Gonadal dysgenesis, Gait ataxia, Cerebellar atrophy, Increased circul... |
OMIM:233400 |
| Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
| Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Decreased body weight, Primary amenorrhea, Elevated circulating follic... |
OMIM:616185 |
| Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... |
OMIM:301077 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Difficulty walking, Peripheral demyelination, Axonal loss |
OMIM:616684 |
| Neuromyelitis Optica Spectrum Disorder |
|
Somatic sensory dysfunction, Neuronal loss in central nervous system, Peripheral demyelination |
ORPHA:71211 |
| Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
| 49,Xxxyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:261534 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Hepatocellular carcinoma,... |
ORPHA:370 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Progressive neurologic... |
OMIM:261640 |
| 49,Xyyyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:99330 |
| Interstitial Lung And Liver Disease |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Respiratory insuffic... |
OMIM:615486 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus, Dementia |
ORPHA:308 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Ataxia, Gliosis, Microvesicular hepatic steatosis, Tachypnea, Tremor, Increase... |
OMIM:220111 |
| Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Senile plaques, Parkinsonism, Astrocytosis, Abnormal lower motor neuro... |
ORPHA:100070 |
| Huntington Disease |
|
Gait imbalance, Inability to walk, Babinski sign, Chorea, Difficulty walking, Weight loss, Rigidi... |
ORPHA:399 |
| Ane Syndrome |
|
Multiple joint contractures, Decreased serum testosterone concentration, Decreased response to gr... |
ORPHA:157954 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Cognitive impairment, Short stature, Abnormal pyramidal sign, Tremor, Unsteady gait, Inco... |
OMIM:614947 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
| Spinocerebellar Ataxia Type 14 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoc... |
ORPHA:98763 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Dysmetria, Axonal degeneration, Hand tremor, Onion bulb formation, Decreased motor n... |
OMIM:302800 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy |
OMIM:616291 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Impotence, Pituitary adenoma, Elevated circulating growth... |
ORPHA:95613 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Cognitive impairme... |
ORPHA:314632 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Neuronal loss in central nervous system, Ataxia, Gliosis, Cerebral atrophy, Myoclonus, Babinski s... |
ORPHA:204 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
| Aarskog-Scott Syndrome |
|
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... |
OMIM:305400 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated c... |
OMIM:618187 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Inability to walk, Sensory ataxia, Onion bulb formation, Decreased motor nerve c... |
OMIM:618184 |
| Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Cerebellar hypopla... |
ORPHA:314978 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Loss... |
OMIM:604367 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... |
OMIM:605285 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Mental deterior... |
OMIM:605361 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, ... |
OMIM:232700 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Sensory ataxia, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, Mitochondrial h... |
OMIM:500013 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Failure to thrive, Neuronal loss in central nervous system, Gliosis, Hepatomegaly, Micronodular c... |
OMIM:203700 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Cognitive imp... |
OMIM:617284 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... |
OMIM:128235 |
| Dystonia-Aphonia Syndrome |
|
Oromandibular dystonia, Cerebral atrophy, Abnormal mitochondrial shape, Myoclonus, Gait disturban... |
ORPHA:412217 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal platelet functi... |
ORPHA:2585 |
| Hsd10 Mitochondrial Disease |
|
Cerebral cortical atrophy, Elevated circulating tiglylglycine concentration, Abnormal mitochondri... |
OMIM:300438 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Increased body weight, Por... |
ORPHA:264580 |
| Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Short st... |
ORPHA:3077 |
| Diaminopentanuria |
|
Ataxia, Neurodegeneration |
OMIM:222350 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
| Mantle Cell Lymphoma |
|
Weight loss, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Abnormal cerebellum morphology, Gliosis, Ataxia, Leukodystrophy, Corpus callosum atrophy, Progres... |
OMIM:169500 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Abnormal labia majora mor... |
ORPHA:435660 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... |
ORPHA:98856 |
| Panhypophysitis |
|
Polydipsia, Impotence, Decreased circulating cortisol level, Increased circulating prolactin conc... |
ORPHA:95513 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Lipoatrophy, Cirrhosis, Primary amenorrhe... |
ORPHA:79083 |
| Adult Krabbe Disease |
|
Broad-based gait, Abnormal pons morphology, Ataxia, Acroparesthesia, Mental deterioration, Progre... |
ORPHA:206448 |
| Temple Syndrome |
|
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... |
OMIM:616222 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Bradykinesia, Tip-toe gait, Mental deterioration, Neurodegeneration, Gait disturbance, Motor axon... |
OMIM:615643 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction... |
OMIM:600882 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin |
OMIM:235900 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Failure to thrive, Apnea, Hypertonia, Hepatomegaly, Cerebral atrophy, Abnor... |
ORPHA:17 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... |
OMIM:609441 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
| Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Limb ataxia, Cognitive impairment, Mental deterioration, Dysmetria, Dysdiadochokinesis, A... |
OMIM:617145 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
| Gordon Holmes Syndrome |
|
Infertility, Ataxia, Cerebral atrophy, Hypogonadotropic hypogonadism, Oligomenorrhea, Cerebellar ... |
OMIM:212840 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
| Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... |
OMIM:618723 |
| Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... |
OMIM:616795 |
| Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Apathy, Bradykinesia, Mental det... |
ORPHA:240085 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Brain atrophy, Decreased nerve conduction velocity, Onion bulb formation, Distal sensory impairme... |
OMIM:615284 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Short stature, Tremor, Gait ataxia, Spasticity, Unsteady gait, In... |
OMIM:213200 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ... |
OMIM:600795 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cellulitis, Lipoatrophy, Hypertriglycerid... |
ORPHA:2348 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:617917 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
| 46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... |
OMIM:610245 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... |
OMIM:270500 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Failure to thrive, Depressed nasal bridge, Respiratory insufficiency, Abnormal mitochondrial morp... |
OMIM:618378 |
| Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor, Writer's cramp |
OMIM:159900 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Adenohypophysitis |
|
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... |
ORPHA:95512 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... |
ORPHA:2410 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy |
OMIM:182815 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Dysmyelinating leukodystrophy, Ataxia, Dysmetria, Mental deterioration, Dysdiadochokinesis, Neuro... |
OMIM:612319 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... |
OMIM:607080 |
| Galloway-Mowat Syndrome 5 |
|
Ataxia, Brain atrophy, Peripheral demyelination |
OMIM:617731 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Abnormal mitochondrial shape, Optic atrophy, Optic disc pall... |
ORPHA:485421 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Cerebellar atrophy, Progressive gait ataxia |
OMIM:607458 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Meningioma |
|
Ataxia, Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abn... |
ORPHA:2495 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Intention tremor, Myoclonus, Hypocholesterolemia, Anemia, Thrombocyto... |
OMIM:610539 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptor... |
ORPHA:163976 |
| Sheehan Syndrome |
|
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased circulating cortisol level, Cent... |
ORPHA:91355 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... |
OMIM:617862 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Mitochondrial swelling, Arthritis, Tremor, Mildly elevated c... |
ORPHA:397744 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Elevated circulating creatine kinase concentration, Oligospermia, Hypo... |
OMIM:602668 |
| Combined Saposin Deficiency |
|
Neuronal loss in central nervous system, Hepatomegaly, Splenomegaly, Myoclonus, Babinski sign, Hy... |
OMIM:611721 |
| Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... |
OMIM:619938 |
| Tangier Disease |
|
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Decreased HDL choleste... |
OMIM:205400 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Oligomenorrhea, Ir... |
ORPHA:79240 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... |
OMIM:619868 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Aggressive behavior, Torsion dystonia, Pa... |
ORPHA:98811 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Oligomen... |
ORPHA:435651 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Bradykinesia, Limb ataxia, Dysmetria, Intention tremor, Depression, Myo... |
OMIM:607136 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Depression, Emotional lability, Anxiety, Parkinsonism,... |
ORPHA:71517 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Small for gestational age, Tremor, Spasticity, Growth delay |
OMIM:278780 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Failure to thrive, Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic ... |
ORPHA:163971 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
| Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame... |
OMIM:615300 |
| Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Depression, Myoclonus, Parkinsonism, Truncal ataxia, Memory impairment... |
OMIM:137440 |
| Hodgkin Lymphoma |
|
Ataxia, Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:98293 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Progressive neurologic deterioration, Tremor, Choreoathetosis, Dystonia, I... |
OMIM:261630 |
| 47,Xyy Syndrome |
|
Increased serum testosterone level, Asthma, Cryptorchidism, Micropenis, Hypospadias, Oligospermia... |
ORPHA:8 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... |
OMIM:616948 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Loss of Purkinje cells in the cerebellar vermis, Decreased number of large peripheral myelinated ... |
OMIM:270550 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Oligomenorrhea, Decreased serum leptin, Hypertriglyceridemia, Lipod... |
ORPHA:79085 |
| Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Truncal ataxia, Cogw... |
OMIM:607346 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
| Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Cerebellar... |
OMIM:614860 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... |
ORPHA:79444 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Ataxia, Sensory ataxia, Decreased sensory nerve conduction velocity, Impaired v... |
OMIM:609033 |
| Joubert Syndrome 26 |
|
Decreased response to growth hormone stimulation test, Micropenis, Panhypopituitarism, Recurrent ... |
OMIM:616784 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Eunuchoid habitus, Primary amenorrhea, Secondary amenorrhea, Increased female libido, ... |
ORPHA:432 |
| Cln5 Disease |
|
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Hyperactivity, M... |
ORPHA:228360 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplasia of the uterus, Small for gestational age, Elevated circulating luteinizing hormone lev... |
OMIM:618419 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Cerebral atrophy, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptog... |
OMIM:612126 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
| Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
| Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation, Reduced circulating prolactin concentration |
OMIM:264110 |
| Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Loss of ambulation, Respiratory insufficiency, Elevated circulating creatine k... |
OMIM:619518 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... |
OMIM:603552 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... |
OMIM:613101 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis |
OMIM:233300 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy |
OMIM:302500 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Umbilical hernia, Prolonged neon... |
ORPHA:226307 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... |
ORPHA:521406 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Distal sensory impairment,... |
OMIM:618387 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, D... |
OMIM:614436 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... |
OMIM:618528 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety, Chorea |
OMIM:118700 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance, Cerebellar at... |
OMIM:210000 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... |
OMIM:605253 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Pontocerebellar atrophy, Dysd... |
ORPHA:423275 |
| Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Hypophosphatemic rickets, Hepatomegaly, Cerebral atrophy, Hypo... |
OMIM:219800 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Apathy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short steppe... |
ORPHA:306692 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Growth delay, Ataxia, Hyperactivity, Tremor, Choreoathetosis, Spasticity, Aggressive behavior, Oc... |
OMIM:612716 |
| Fragile X Tremor/Ataxia Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Mental dete... |
OMIM:300623 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Myoclonus, Anxiety, Tremor, Dystonia |
OMIM:619651 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Impulsivity, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait |
OMIM:619028 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... |
OMIM:300635 |
| Alstrom Syndrome |
|
Asthma, Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth ho... |
OMIM:203800 |
| Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Chorea,... |
ORPHA:66624 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Pancytopenia, Primary adrenal insufficiency, Hy... |
OMIM:617872 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Loss of ambulation, Myoclonus, Memory impairment, Tremor, Difficulty walking |
OMIM:614018 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Small for gestatio... |
OMIM:300869 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Cerebellar vermis atrophy, Progressive psychomotor deterioration, Cognitive impairment, D... |
ORPHA:1170 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Inappropriate crying, Hand apraxia, Pill-rolling tremor, P... |
ORPHA:3095 |
| Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... |
OMIM:618014 |
| Urocanase Deficiency |
|
Tremor, Ataxia, Aggressive behavior, Short stature |
OMIM:276880 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
| Multiple Sulfatase Deficiency |
|
Corneal opacity, Ataxia, Hepatomegaly, Cerebral atrophy, Splenomegaly, Spasticity, Cerebellar atr... |
OMIM:272200 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... |
OMIM:606159 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Precocious Puberty, Central, 1 |
|
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... |
OMIM:176400 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:618951 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Slender build, Elevated creatine kinase after exercise, Gait disturbance, Difficulty walking, Dec... |
ORPHA:352470 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Cognitive impairment, Myoclonus, Myo... |
ORPHA:79263 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Axonal degeneration, Microcytic anemia, Clonus, Tongue fasciculations |
OMIM:618811 |
| Perry Syndrome |
|
Akinesia, Apathy, Bradykinesia, Depression, Anxiety, Rigidity, Parkinsonism, Inappropriate behavi... |
OMIM:168605 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity, Cerebellar atrophy |
OMIM:616494 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty |
OMIM:618117 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... |
ORPHA:572333 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Distal sen... |
OMIM:601382 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
