Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraplegia, Hyperammonemia, Dysmetria... |
OMIM:238970 |
Saccharopinuria |
|
Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Cystinuria... |
ORPHA:3124 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemi... |
OMIM:606777 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi... |
OMIM:619565 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypotonia, Hyperammonemia, Abnormal circulating leucine concentrati... |
ORPHA:6 |
Developmental And Epileptic Encephalopathy 40 |
|
Axial hypotonia, Small for gestational age, Spastic tetraparesis, Hypotonia, Choreoathetosis, Myo... |
OMIM:617065 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Ataxia, Hypotonia, Hyperammonemia, Weight loss, Organic aciduria, Lethargy |
ORPHA:79242 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Acute hyperammonemia, Cerebral palsy, Ketonuria, Hyperglycinuria, Hyperammonemia, Opist... |
OMIM:210210 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Ataxia, Elevated circulating branched chain am... |
ORPHA:2394 |
Developmental And Epileptic Encephalopathy 82 |
|
Inability to walk, Spastic tetraplegia, Hyperammonemia, Decreased body weight, Neonatal hypotonia... |
OMIM:618721 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Hemiplegia/hemiparesis, Chorea, Hypotonia, Hyperammonemia, Choreoathetosis, ... |
ORPHA:289916 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity |
OMIM:617829 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Ataxia, Hypotonia |
ORPHA:622 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Inability to walk, Hypotonia, Hyperammonemia, 3-Methylglutaconic aciduria, Abnormality of extrapy... |
OMIM:614739 |
Citrullinemia Type I |
|
Torticollis, Ataxia, Slurred speech, Hypotonia, Hyperammonemia, Ankle clonus, Elevated plasma cit... |
ORPHA:247525 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hypotonia, Hyperammonemia, Lethargy, Failure to thrive |
ORPHA:28 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Argininemia |
|
Hemiplegia/hemiparesis, Diaminoaciduria, Progressive spastic quadriplegia, Hyperammonemia |
ORPHA:90 |
Porphyria, Acute Hepatic |
|
Paralysis, Hypotonia, Respiratory paralysis, Failure to thrive, Elevated urinary delta-aminolevul... |
OMIM:612740 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Generali... |
OMIM:264070 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperammonemia, Choreoathetosis, Gene... |
OMIM:618416 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hypotonia, Methylmalonic aciduria, Hyperhomocystinemia... |
OMIM:236270 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hypotonia, Tetraplegia, Uraciluria, Hypertonia, Lethargy, Failure to thrive |
OMIM:274270 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Hypotonia, Hyperammonemia, Choreoathetosis, Dystonia, Lethargy, Failure to t... |
ORPHA:79312 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Hypotonia, Dysmetria, Aminoaciduria, Myoclonus, Truncal ataxia... |
OMIM:250620 |
Glycine Encephalopathy 1 |
|
Hyperglycinuria, Hypotonia, Hyperglycinemia, Myoclonus, Generalized hypotonia, Lethargy |
OMIM:605899 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Elevated circulating acylcarnitine concentration, Hypertonia, Ethylmalonic aciduria, In... |
ORPHA:26792 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia |
OMIM:238750 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Generalized hypoto... |
OMIM:618224 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Difficulty walking, Paralysis |
OMIM:613710 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, Hypotonia, Hyperammonemia, 3-Methyl... |
OMIM:246450 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypotonia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Hypoargininemia |
ORPHA:147 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hypotonia, Hyperammonemia, Hypertonia, Organic aciduria, Generalized hypotonia, Elevate... |
OMIM:253270 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Hypotonia |
OMIM:213000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Ataxia, Paraparesis, Hypotonia, Hyperammonemia, Choreoathetosis, Tetraparesi... |
ORPHA:27 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Argininosuccinic Aciduria |
|
Abnormal hair quantity, Ataxia, Trichorrhexis nodosa, Hyperglutaminemia, Hyperammonemia, Aminoaci... |
ORPHA:23 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypotonia, Opisthotonus, Generalized hypotonia, Elevated urinary... |
OMIM:210200 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Ataxia, Elevated circulating creat... |
ORPHA:42 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, G... |
OMIM:233910 |
Huntington Disease-Like 2 |
|
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia |
ORPHA:98934 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Axial hypotonia, Hypospadias, Small for gestational age, Hyperammonemia, Generalized hypotonia, S... |
OMIM:618253 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Paraplegia, Infantile muscular h... |
ORPHA:927 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Ataxia, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure t... |
OMIM:237300 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Propionic Acidemia |
|
Axial hypotonia, Increased level of hippuric acid in urine, Osteoporosis, Hyperglycinuria, Hypera... |
OMIM:606054 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Depression, Bradykinesia, Weight loss, Apathy, Dystonia, Inertia, Action tremor |
OMIM:606438 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive, Gait disturbance, Hypotonia |
ORPHA:26 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Hypotonia, Depression, Myoclonus |
OMIM:159900 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Isolated Atp Synthase Deficiency |
|
Ataxia, Spastic paraplegia, Renal hypoplasia, Tetraplegia, Hyperammonemia, Hypotonia, 3-Methylglu... |
ORPHA:254913 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... |
ORPHA:248111 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... |
ORPHA:157941 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Ataxia, Small for gestational age, Pigmentary retinopathy, Long eyelashes, Sparse hair,... |
ORPHA:3363 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Hyperglutamatemia, Hyperammonemia |
OMIM:237310 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Tremor, Hypotonia, Choreoathetosis, Myoclonu... |
OMIM:312170 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, 3-Methylglutaconic aciduria, ... |
OMIM:618120 |
Congenital Disorder Of Glycosylation, Type Ip |
|
Low anterior hairline, Hypotonia, Hyperammonemia, Opisthotonus, Neonatal hypotonia |
OMIM:613661 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Ataxia, Failure to thrive, Trichorrhexis nodosa, Hyperglutaminemia, Hyper... |
OMIM:207900 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Hypotonia, Pre... |
ORPHA:33445 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Urinary incontinence, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, G... |
OMIM:618093 |
Hyperlysinemia |
|
Neck hypertonia, Failure to thrive, Poor motor coordination, Spastic tetraparesis, Craniosynostos... |
ORPHA:2203 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Abno... |
OMIM:222748 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f... |
OMIM:616921 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Spastic tetraparesis, Chorea, Low plasma citrulline, Hyperammonemia, Hemiballismus |
OMIM:618567 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Hypotoni... |
OMIM:251100 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Severe Canavan Disease |
|
Inability to walk, Babinski sign, Hypotonia, Decerebrate rigidity, Lethargy, Spasticity |
ORPHA:314911 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Focal dystonia, Fascicul... |
ORPHA:309169 |
Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... |
OMIM:605407 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Increased LDL cholesterol concentration, Fair hair, Incoordination, Gait ataxia |
OMIM:618808 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal t... |
OMIM:607483 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Dystonia, Upper motor neur... |
ORPHA:401901 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Spastic diplegia, Hyperammonemia, Hypotonia, Choreoathet... |
ORPHA:391428 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypotonia, Hyperammonemia, Dystonia, Hyperalaninemia, Spasticity, Fail... |
OMIM:614702 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Gait disturbance |
ORPHA:79283 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Parkinsonism, Infantile axial hypotonia, Tremor, Babinski sign, Scissor gait, ... |
ORPHA:521406 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Urinary incontinence, Abnormal circulating calcium concentration, Tremor, Chorea, R... |
OMIM:213600 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Alopecia, Ataxia, Osteoporosis, Increased bone density with cysti... |
OMIM:136300 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Failure to thrive, Hyperglutamatemia, Cerebral palsy, Generalized dystonia, Spast... |
OMIM:620358 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Rett Syndrome |
|
Increased serum pyruvate, Limb apraxia, Inability to walk, Hyperammonemia, Bradykinesia, Gait dis... |
ORPHA:778 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Oromandibular dystonia, Clumsine... |
ORPHA:216873 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Axial hypotonia, Spastic te... |
OMIM:605711 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Hypotonia, Generalized hypo... |
OMIM:256710 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hypotonia, Hyperammone... |
OMIM:255120 |
Early Myoclonic Encephalopathy |
|
Lethargy, Myoclonus, Hypotonia |
ORPHA:1935 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, H... |
OMIM:251000 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Urinary incontinence, Infantile axial hypotonia, Chorea, Babinski s... |
ORPHA:225147 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Low plasma citrulline, Hypotonia, Hyperammonemia, Athetosis, Hypoprolinemia, Hypoornithinemia, Sp... |
OMIM:219150 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Axial hypotonia, Ataxia, Abnormal pyramidal sign, Hypotonia, Generalized hypotonia, Lethargy, Fai... |
OMIM:618228 |
Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hypotonia, Hyperammone... |
OMIM:212140 |
Biotinidase Deficiency |
|
Alopecia, Ataxia, Hypotonia, Hyperammonemia, Organic aciduria, Lethargy |
OMIM:253260 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Ataxia, Hypotonia, Myoclonus, Lethargy, Spasticity |
OMIM:618225 |
L-Ferritin Deficiency |
|
Alopecia, Decreased circulating ferritin concentration |
OMIM:615604 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Axial hypotonia, Cachexia, Hypotonia, Gait ataxia, Weight loss, Aminoaciduria, Proximal tubulopat... |
OMIM:612075 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia... |
OMIM:607317 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Ataxia, Hypotonia, Dystonia, Lethargy |
OMIM:246900 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Apathy, Shuffling gait, Falls, Short steppe... |
ORPHA:306692 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Severe muscular hypotonia, Chorea, Hypotonia, Hyperammonemia, Opisthotonus, Tetraparesis, Myoclon... |
OMIM:616672 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Citrullinemia, Classic |
|
Failure to thrive, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elev... |
OMIM:215700 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Ataxia, Elevated circulating uracil concentration, Hyperglutaminemia, Low plas... |
OMIM:311250 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Hypotonia, Abnormality of extrapyramidal motor function, Ne... |
OMIM:302500 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations |
OMIM:615048 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Axial hypotonia, Spastic tetraplegia, Hyperammonemia, Hypotonia, Generalized hypotonia, Abnormal ... |
OMIM:611719 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Variegate Porphyria |
|
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Porphyrinuria, Par... |
OMIM:176200 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... |
ORPHA:399 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx... |
ORPHA:765 |
Pontocerebellar Hypoplasia, Type 6 |
|
Appendicular spasticity, Lower limb spasticity, Axial hypotonia, Hypotonia, Upper limb spasticity... |
OMIM:611523 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Axial hypotonia, Ataxia, Spastic tetraparesis, Elevated circulating acylcarnitine concentration, ... |
OMIM:615838 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Axial hypotonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py... |
OMIM:613135 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Hypotonia, Gait disturbance, Generalized hypotonia, Lethargy, Spasticity |
OMIM:603896 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Axial hypotonia, Ataxia, Babinski sign, Hypotonia, Generalized hypotonia, Dystonia, Lethargy, Fai... |
OMIM:618226 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Classic Galactosemia |
|
Speech apraxia, Incoordination, Ataxia, Postural tremor, Osteoporosis, Clumsiness, Depression, Re... |
ORPHA:79239 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Speech apraxia, Failure to thrive, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic ga... |
ORPHA:415 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... |
OMIM:248600 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Progressive spastic quadriplegia, Dec... |
ORPHA:2985 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Hyperammonemia, Elevated circulating suberic... |
OMIM:615160 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia |
OMIM:128235 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Hypoplasia of penis, Central heterochromia, Small for gestational age, Long eyebrows, P... |
OMIM:275400 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Abnormal posturing, Weight loss, Opisthotonus, Pigmentar... |
ORPHA:216866 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Ataxia, Clonus, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:616878 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp... |
OMIM:615751 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Ataxia, Hypotonia, Hyperammonemia, Weight loss, Apathy, Hyperuricemia, Extrapyramidal ... |
ORPHA:134 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Limb ataxia, Hyperammonemia, Generalized hypotonia, Truncal ataxia, Hyperalaninemia |
OMIM:619051 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Ketonuria, Hypotonia, Methylmalonic aciduria, Hyperammonemia, Hyperglycin... |
OMIM:251110 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Hypotonia |
OMIM:619561 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation |
OMIM:617917 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... |
OMIM:619386 |
Pyruvate Carboxylase Deficiency |
|
Tremor, Abnormal pyramidal sign, Generalized hypotonia, Hypoglutaminemia, Ataxia, Apathy, Elevate... |
ORPHA:3008 |
Developmental And Epileptic Encephalopathy 41 |
|
Axial hypotonia, Inability to walk, Babinski sign, Nephrocalcinosis, Tetraparesis, Generalized hy... |
OMIM:617105 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Failure to thrive |
OMIM:619651 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Generalized hypotonia, Hyperammonemia |
OMIM:614111 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Hypospadias, Small for gestational age, Tremor, Hypotonia, Hyperammonemia, 3-Methylglutac... |
OMIM:614052 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Axial hypotonia, Tremor, Hypotonia, Dysd... |
OMIM:618049 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... |
ORPHA:1008 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Melanin pigment aggregation in hair... |
OMIM:607624 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Hypotonia, Obesity, Limb dystonia |
OMIM:620270 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Increased circulati... |
OMIM:617916 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Asymptomatic hyperammonemia |
OMIM:606762 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Synophrys, Hypotonia, Hyperprolinemia, Long eyelashes, Hyperalanine... |
OMIM:619064 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, Generalized hyp... |
ORPHA:71517 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Ataxia, Hypospadias, Small for gestational age, Hypotonia, Hyperammonemia, Choreoathetosis, Renal... |
OMIM:615471 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, U... |
OMIM:600363 |
Benign Samaritan Congenital Myopathy |
|
Lethargy, Frog-leg posture, Fasciculations, Generalized hypotonia |
ORPHA:324581 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Ataxia, Spastic hemiparesis, Hypotonia, Hyperammonemia, Weight loss, 3-Methylglutaric ... |
ORPHA:20 |
Biotinidase Deficiency |
|
Alopecia, Ataxia, Hypotonia, Hyperammonemia, Organic aciduria, Spastic paraparesis, Lethargy |
ORPHA:79241 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Urinary urgency, Dystonia |
OMIM:605909 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Spasticity, Athetosis, Hypopigmentation of the skin |
OMIM:257800 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Ataxia, Axial hypotonia |
OMIM:618951 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Neonatal hypotonia, Spasticity, Hyperammonemia, Opisthotonus |
OMIM:610678 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Hypotonia, Methylmalonic aciduria, Hyp... |
OMIM:277410 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Generalized hypotonia, Dystonia, Dif... |
ORPHA:306669 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Depression, Bradykinesia, Apathy, Falls, Dystonia, Parkinsonism with favorable ... |
ORPHA:240085 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypotonia, Hypertonia, Myoclonus, I... |
OMIM:612736 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Propionic Acidemia |
|
Organic aciduria, Hyperammonemia |
ORPHA:35 |
Central Diabetes Insipidus |
|
Hyponatremia, Weight loss, Depression, Lethargy, Failure to thrive, Nocturia |
ORPHA:178029 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Hypotonia, Dystonia, Spasticity |
ORPHA:599373 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia |
OMIM:261630 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise-induced myogl... |
OMIM:201475 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia |
ORPHA:35878 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Renal insufficiency, Generalized neonatal hypotonia |
ORPHA:254857 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Lethal Congenital Contracture Syndrome 7 |
|
Hypotonia, Generalized hypotonia, Paralysis |
OMIM:616286 |
Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Incoordination, Ataxia, Clonus, Elevated circulating creatine kinase concentration, Involuntary m... |
ORPHA:480864 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Tremor, Cystathionin... |
OMIM:277400 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria, Hypotonia |
OMIM:615026 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Calcific stippling of infantile cartilaginous skeleton, Elevated circulating phytanic a... |
OMIM:215100 |
Cyclic Vomiting Syndrome |
|
Lethargy, Ataxia, Hypotonia, Generalized hypotonia |
OMIM:500007 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
Fibrodysplasia Ossificans Progressiva |
|
Failure to thrive, Alopecia, Ectopic ossification in muscle tissue, Ectopic ossification in ligam... |
ORPHA:337 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,... |
OMIM:615924 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... |
OMIM:608836 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hypotonia, Methylmalonic aciduria, Hyperhomocystinemia... |
OMIM:614857 |
Menkes Disease |
|
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Babinski sign, Osteopo... |
OMIM:309400 |
Griscelli Syndrome Type 1 |
|
Ataxia, Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Hypertonia, Gene... |
ORPHA:79476 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Ge... |
OMIM:213200 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Depression, Bradykinesia, Gait disturbance, Parkinsonism with favorable... |
OMIM:616710 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia, Ataxia, Urinary incontinence, Rigidity, Babinski sign, Abnormal pyramidal sign, Gait ap... |
OMIM:600142 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Pigmen... |
OMIM:614307 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... |
ORPHA:276435 |
Hjv Or Hamp-Related Hemochromatosis |
|
Generalized hyperpigmentation, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:79230 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Depression, Bradykinesia, Weight loss, Apathy, Dystonia... |
OMIM:168605 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... |
OMIM:617013 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hypotonia, Hyperammone... |
OMIM:212138 |
Horner Syndrome, Congenital |
|
Heterochromia iridis, Paralysis |
OMIM:143000 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Small for gestational age, Axial hypotonia, Tremor, Rigidity, Cho... |
OMIM:261640 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Weight loss, Apathy, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Porphyria Cutanea Tarda |
|
Alopecia, Porphyrinuria, Onycholysis, Facial hypertrichosis, Hyperpigmentation in sun-exposed areas |
OMIM:176100 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Hemiparesis, Lethargy |
OMIM:617900 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Neonatal hypotonia, Proteinuria, Large for gestational age, Tremor, Abnormal circulating fatty-ac... |
ORPHA:263455 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Reticulated skin ... |
ORPHA:79397 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Inability to walk, Hypotonia, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct... |
OMIM:615362 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Susac Syndrome |
|
Gait ataxia, Apathy, Generalized hypotonia, Lethargy, Upper motor neuron dysfunction |
ORPHA:838 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Spastic tetraparesis, Tremor, Hypotonia, Small nail |
OMIM:619470 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Generalized... |
ORPHA:98763 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Hypotonia... |
OMIM:617093 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Hypolysinemia, Increased circulating ferritin concentration, Osteoporosis, Sta... |
OMIM:222700 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Abnormal urina... |
ORPHA:391417 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Uns... |
OMIM:616795 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Cachexia |
ORPHA:2574 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis... |
ORPHA:470 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Urocanic aciduria, Abnormal circulating histidine concentration, Gait a... |
ORPHA:210128 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Glutaric Acidemia Type 3 |
|
Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta... |
ORPHA:35706 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Abnormality of the kidney, Hypotonia, Hyperammonemia, 3-Methylglutaconic aciduria |
ORPHA:1194 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Severe muscular hypotonia, Tremor, Babinski sign, Spastic paraplegia, Difficult... |
ORPHA:477673 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Lethargy |
OMIM:613002 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Head titubation, Inability to wal... |
OMIM:618877 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:26791 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Hir... |
OMIM:610185 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Hypotonia, Weight loss, Generalized hypotonia, Slender build |
OMIM:613662 |
Argininemia |
|
Oroticaciduria, Hyperammonemia, Progressive spastic quadriplegia, Diaminoaciduria, Hyperargininem... |
OMIM:207800 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:600649 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Infantile muscular hypotonia, Hypopi... |
ORPHA:411515 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Difficulty walking, Paralysis |
OMIM:605285 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Central Neurocytoma |
|
Lethargy, Babinski sign, Ataxia, Depression |
ORPHA:73256 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Lethargy, Increased body weight |
ORPHA:276608 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Ataxia, Clonus, Parkinsonism, Urinary incontinence, Head t... |
ORPHA:300605 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Osteopenia, Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... |
OMIM:312080 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, Ataxia, White eyebrow, Blue irides, Hypopigmented skin patches, Hypotonia, Prema... |
OMIM:277580 |
Gaba-Transaminase Deficiency |
|
Lethargy, Hypotonia |
OMIM:613163 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... |
OMIM:272750 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Generalized dystonia, Ataxia, Inability to walk, Chorea, Hypotonia, Gen... |
ORPHA:70472 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... |
ORPHA:2251 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Abnormal posturing, Dystonia |
OMIM:304700 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia |
ORPHA:664 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dystonia |
OMIM:617836 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal pyramidal sign, Hypotonia, Spasticity, Generalized hypotonia, Palatal ... |
ORPHA:363717 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxi... |
OMIM:617145 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Ataxia, Renal insufficiency... |
ORPHA:79282 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Ataxia, Tremor, Paronychia, Decreased serum zinc, Lethargy, Alopecia of scalp |
OMIM:201100 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hypotonia, Hype... |
OMIM:610505 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Generalized hypotonia, Hypotonia, Hyperammonemia |
OMIM:610015 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Ocul... |
OMIM:612716 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depression, Weight loss, ... |
OMIM:137440 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Lower limb spasticity, Ataxia, Hyperhomocystinemia, Cystathioninemia, Hemipare... |
ORPHA:395 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Spasticity, Frontal upsweep of hair, Ataxia |
OMIM:300983 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Glomerulopathy, Hemolytic-uremic syndrome, Osteoporosis, Hypotonia, Hyperhomoc... |
ORPHA:2169 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal hypotonia, Lethargy, Small for gestational age |
OMIM:610498 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Axial hypotonia, Oculogyric crisis, Babinski sign, Lim... |
OMIM:608643 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Small for gestational age |
OMIM:278780 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Speech apraxia, Lower limb spasticity, Alopecia, Postural tremor, Rigidity, Unsteady gait, Hand t... |
ORPHA:412057 |
Erythrokeratodermia Variabilis |
|
Alopecia, Hypermelanotic macule, Abnormal hair morphology, Weight loss, Abnormality of the nail, ... |
ORPHA:317 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Dystonia, Paralysis |
OMIM:300857 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Generalized hypotonia |
OMIM:619099 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Adrenoleukodystrophy |
|
Alopecia, Incoordination, Urinary incontinence, Paraparesis, Spastic paraplegia, Slurred speech, ... |
OMIM:300100 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Abnormality of extrapyramidal motor function, Hyperglycinemia, Myoclonus, Generalized hyp... |
OMIM:614299 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Abnormal pyramidal sign, Hypotonia, Ethylmalonic aciduria, Lethargy, Failure to thrive |
OMIM:201470 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hemiplegia/hemiparesis, Hypotonia, Renal tubular acidosis, Transient hyperlipidemia, Lethargy |
ORPHA:156 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Hypoplasia of penis, Fine hair, Pili torti, Sparse body hair, Aplasia/Hyp... |
ORPHA:202 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Hypotonia,... |
OMIM:606703 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Hypotonia, Loss of am... |
ORPHA:3095 |
Developmental And Epileptic Encephalopathy 50 |
|
Broad-based gait, Oroticaciduria, Hypotonia, Hyperammonemia, Renal tubular acidosis, Failure to t... |
OMIM:616457 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Bipolar affective disorder, Ataxia, Craniosynostosis, Hypotonia, Depression, Hypertonia... |
OMIM:601853 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Ataxia, Tremor, Premature graying of hair, Gait disturbance, Multiple c... |
ORPHA:100 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ataxia |
OMIM:618587 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Failure to thrive, Hypotonia |
OMIM:613561 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypotonia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Diminished motivation, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Bab... |
OMIM:615157 |
Flynn-Aird Syndrome |
|
Alopecia, Bone cyst, Ataxia, Cachexia |
ORPHA:2047 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Rickets, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to th... |
OMIM:611590 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Hyperammonemia, Generali... |
ORPHA:99901 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Urinary incontinence, Rigidity, Babinski sign, Unsteady ga... |
OMIM:183090 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... |
ORPHA:98764 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... |
ORPHA:97362 |
Lopes-Maciel-Rodan Syndrome |
|
Axial hypotonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hype... |
OMIM:617435 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Pigmentary retinopathy, ... |
OMIM:164500 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Stepp... |
OMIM:618387 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level... |
ORPHA:324575 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Tremor, Paraplegia, Depression, Hypertonia, Hyperphenylalaninemia, Hemi... |
ORPHA:79254 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Incoordination, Small for gestational age, Cystathioninuria, Hypotonia, M... |
OMIM:277380 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Axial hypotonia, Tremor, Rigidity, ... |
ORPHA:70594 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... |
ORPHA:2885 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Tetraplegia/tetraparesis, Sparse eyebrow, Rigidity, Unsteady gait, P... |
ORPHA:2269 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hyperammonemia |
OMIM:616483 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Elevated circulating creatine kinas... |
OMIM:612953 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic aciduria, Ami... |
ORPHA:1933 |
Ogden Syndrome |
|
Torticollis, Fine hair, Hypertonia, Shuffling gait, Generalized hypotonia, Lethargy, Aplasia/Hypo... |
ORPHA:276432 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, My... |
ORPHA:254881 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... |
ORPHA:159 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Hypoalbuminemia, Hyper... |
ORPHA:1667 |
Splenoportal Vascular Anomalies |
|
Hyperammonemia |
OMIM:271500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Axial hypotonia, Facial hypotonia, Tremor, Babins... |
OMIM:300055 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... |
ORPHA:247598 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Hypotonia, Depression, Truncal obes... |
OMIM:300957 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Pigmentary retinopathy, Lower limb hype... |
ORPHA:3208 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Writer's cramp, Hypercalciuria, Depression, Nephrocalci... |
ORPHA:428 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Axial hypotonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Hypotonia, Dystonic gait,... |
ORPHA:280219 |
Typhoid |
|
Tremor, Lethargy, Hypertonia, Ataxia |
ORPHA:99745 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Hyperlipidemia, Glycosuria, Lethargy, Failure to thrive |
ORPHA:2089 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Hypotonia, Weight loss |
ORPHA:79238 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo... |
OMIM:606159 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Severe muscular hypotonia, Renal hypoplasia, Renal cyst, Renal tubular acido... |
OMIM:614922 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Axial hypotonia, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait atax... |
OMIM:614831 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Hypotonia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Failure to thrive, Bipolar affective disorder, Ataxia, Elevated circulating creat... |
ORPHA:254892 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vo... |
ORPHA:94080 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Infantile muscular hypotonia |
ORPHA:79234 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Hypotonia, Eyelid myoclonus |
OMIM:616421 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm... |
ORPHA:2884 |
Peroxisome Biogenesis Disorder 5B |
|
Neonatal hypotonia, Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentrati... |
OMIM:614867 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hyperammonemia |
OMIM:620137 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Myasthenic Syndrome, Congenital, 16 |
|
Gait disturbance, Periodic paralysis |
OMIM:614198 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Argininosuccinic aciduria, Hyperargininemia, Elevated plasm... |
OMIM:603471 |
Mu-Heavy Chain Disease |
|
Bence Jones Proteinuria, Osteoporosis, Osteolysis, Weight loss, Nephropathy |
ORPHA:100024 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus |
OMIM:619028 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Osteoporosis, Albinism |
ORPHA:2786 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Depression, Hyperkinetic movements... |
ORPHA:93958 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Increased serum iron, Hyperpigmentation of the skin... |
OMIM:602390 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Myoclonus |
OMIM:612016 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Bipolar affective disorder, Broad-based gait, Parkinsonism... |
ORPHA:3077 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Hypotonia |
ORPHA:95717 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria, Hypotonia, Generalized hypotonia, Paralysis |
OMIM:612300 |
Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, Hypoplastic to... |
ORPHA:2930 |
Acute Peripheral Arterial Occlusion |
|
Paralysis |
ORPHA:90064 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Babinski sign, Slurred speech, Spastic/hyperactive bladder, Hypotonia, Cl... |
ORPHA:137898 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Ataxia, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Failure to thrive |
OMIM:616353 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Spastic/hyperactive bladder, Depression, Bradyk... |
ORPHA:411602 |
Isaacs Syndrome |
|
Fasciculations, Weight loss |
ORPHA:84142 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Vocal cord paralysis |
OMIM:607641 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Complex organic aciduria, Frontal hirsutism, Alopecia, Ataxia, Renal tub... |
ORPHA:506 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
Oculopharyngodistal Myopathy |
|
Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis |
ORPHA:98897 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair, Hypotonia, Failure to thrive, Hyperpigmentation of the skin |
ORPHA:50812 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Generalized hypotonia, Difficulty walki... |
ORPHA:529665 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Overweight, Cranial hyperostosis, Hypotonia, Depression, Hyperkinetic movements, Upper li... |
ORPHA:457240 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A... |
OMIM:619738 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Hypotonia, Depression |
ORPHA:3375 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Hypotonia, Ataxia, Myoclonus |
OMIM:616366 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Lethal Congenital Contracture Syndrome 8 |
|
Vocal cord paralysis, Hypotonia |
OMIM:616287 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Difficulty wal... |
ORPHA:2590 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis |
ORPHA:640 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Obesity, Hirsutism |
OMIM:604931 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails... |
ORPHA:1882 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Osteomalacia, Bone cyst, Nephrolithiasis, Osteolysis, Gait disturbance, Hypocalcemia, H... |
ORPHA:93160 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb fasciculation... |
ORPHA:90117 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoporosis, Obesity, Depression, Hyperostosis frontalis interna, Hyperuricemia, Hypercholestero... |
ORPHA:77296 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... |
ORPHA:79263 |
Leukodystrophy, Hypomyelinating, 6 |
|
Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Oculomotor aprax... |
OMIM:612438 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... |
OMIM:620300 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Tremor... |
OMIM:617988 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... |
OMIM:613280 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
Proximal 16P11.2 Microduplication Syndrome |
|
Bipolar affective disorder, Sparse eyelashes, Sparse eyebrow, Tremor, Hypotonia, Micropenis, Fail... |
ORPHA:370079 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Babinski sign, Hypotonia, Pigmentary retinopathy, Tip-toe gait, Hyp... |
ORPHA:746 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Tremor, Hypotonia, Myoclonus, Iris hypopigmentation |
ORPHA:97229 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Hypotonia, Medium chain dicarboxylic aciduria, Generalized hypotonia, Lethargy |
OMIM:201450 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Babinski sign, Vocal cord paralysis, Inability to walk by childhood/adolescence,... |
ORPHA:99947 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis, Tremor |
ORPHA:66633 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Ataxia, Poliosis |
OMIM:141300 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Failure to thrive, Ketonuria, Hyperammonemia |
OMIM:615453 |
Renal Tubular Acidosis Iii |
|
Osteomalacia, Periodic paralysis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Ri... |
OMIM:267200 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Urinary incontinence, Oculogyric crisis, Rigidity, Babinski sign, A... |
ORPHA:306674 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hand tremor, Periodic paralysis |
OMIM:609153 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
Transcobalamin Ii Deficiency |
|
Ataxia, Hypotonia, Methylmalonic aciduria, Lethargy, Failure to thrive |
OMIM:275350 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Thick hair, Elevated circulating creatine kinase concentration, Tremor, Inability to walk... |
OMIM:617675 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101075 |
Congenital Myopathy 15 |
|
Osteopenia, Vocal cord paralysis, Hypotonia, Waddling gait |
OMIM:620161 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Alopecia, Osteoporosis, Increased body weight, Depression, Hirsutism |
OMIM:615830 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Hypotonia, Weight loss |
OMIM:620045 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait atax... |
ORPHA:363400 |
Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Nephrolithiasis, Tremor |
ORPHA:212 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Hypotonia, Choreoathetosis, Abnormality of the ur... |
ORPHA:702 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia... |
OMIM:208920 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Failure to thrive in infancy, Facial hypotonia, Cachexia, Inability to walk, Appendic... |
OMIM:616801 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Abnormality of uri... |
OMIM:256700 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypotonia, Hypertonia, Failure to thrive |
OMIM:619556 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... |
ORPHA:276556 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Axial hypotonia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonu... |
OMIM:618321 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of hair, Osteoporosis, Obesity, Abdominal obesity, Infantile muscula... |
ORPHA:398079 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Myoclonus, Dif... |
OMIM:159950 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia, Hypotonia, Periodic paralysis |
OMIM:170400 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Failure to thrive, Elevated circulating alpha-feto... |
OMIM:617049 |
Glutathionuria |
|
Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor |
OMIM:231950 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Paralysis, Respiratory paralysis, Periodic hypokalemic paresis, Mildly elev... |
ORPHA:681 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Tremor, Nephrotic syndrome, Hypertonia, Gait disturbance, Nephropathy |
ORPHA:1192 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Ataxia, Hypospadias, Highly arched eyebrow, Small for gestational age, Tremor, Dystoni... |
OMIM:220111 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Reduced haptoglobin level |
OMIM:612126 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Chorea |
OMIM:301080 |
Chronic Hiccup |
|
Weight loss, Depression |
ORPHA:396 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Parkinsonism, Paralysis |
OMIM:105500 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Osteolysis, Abnormality of the nail, Abnormal toenail morphology |
ORPHA:494 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Urinary incontinence, Tremor, Rigidity, Gait disturbance |
OMIM:603472 |
X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clum... |
ORPHA:43 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Weight loss, Periodic paralysis |
OMIM:613239 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... |
ORPHA:442835 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... |
ORPHA:276575 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, Hypertonia, Generalized hypotonia |
OMIM:617106 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Axial hypotonia, Low anterior hairline, Hypotonia, Small nail, Limb hypertonia |
OMIM:614219 |
Rhabdoid Tumor |
|
Renal neoplasm, Cerebral palsy, Hypercalcemia, Weight loss, Hematuria, Hemiplegia |
ORPHA:69077 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Hypoplastic toenails, Hypotonia, Limb dystonia, Lethargy |
OMIM:604377 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Osteomalacia, Hypocitraturia, Paralysis, Rickets, Nephrolit... |
ORPHA:18 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Obesity, Neonatal hypotonia, Hypopigmentation of the skin, Iris hypopig... |
ORPHA:177910 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... |
OMIM:210000 |
Crigler-Najjar Syndrome |
|
Lethargy, Hypotonia |
ORPHA:205 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Sialidosis Type 2 |
|
Ataxia, Tremor, Osteoporosis, Generalized hypotonia, Nephropathy |
ORPHA:87876 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101078 |
Ddost-Cdg |
|
Osteopenia, Tremor, Oromotor apraxia, Generalized hypotonia, Failure to thrive, Nephrotic range p... |
ORPHA:300536 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demi... |
OMIM:600785 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Hypotonia, Dysmetria, Gait ataxia, Oculomotor apraxia, S... |
ORPHA:1170 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Urinary incontinence, Action tremor, Dysmetria, Ga... |
OMIM:300623 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Abnormal hair morphology, Reduced bone mineral density, Premature graying of hair, Abno... |
ORPHA:1979 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Alopecia, Ataxia, Reticulated skin pigmentation, Urethral stenosis, Osteoporo... |
OMIM:613990 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Waddling gait, Silver-gray hair, Spastic paraplegia, Horseshoe kidney, Multiple lentigines, Spast... |
ORPHA:101003 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Gait imbalance, Infantile muscular h... |
ORPHA:411511 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ... |
ORPHA:48818 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:96 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Weig... |
ORPHA:465508 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... |
OMIM:104100 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Urinary urgency, Dyston... |
OMIM:168600 |
Aicardi-Goutieres Syndrome 9 |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Axial hypotonia, Spastic te... |
OMIM:619487 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Hypertonia, Steppage gait, Myoc... |
OMIM:616505 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse eyebrow, N... |
OMIM:615704 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Hypotonia, Sparse bone trabeculae, Hy... |
OMIM:277440 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Hypotonia, Lethargy, Abnormal circulating thyro... |
ORPHA:95716 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Urinary urgency, Gait disturban... |
OMIM:168601 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Ataxia, Osteoporosis, Rickets, Depression, Weight loss, Hypocalcemia, Failure to thrive |
OMIM:212750 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Hypotonia, Poor fine motor coordination, Bradykinesia |
ORPHA:36387 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paraly... |
OMIM:616586 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Large for gestational age, Increased C-peptide level |
ORPHA:276580 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di... |
OMIM:302800 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... |
ORPHA:209335 |
Christianson Syndrome |
|
Cachexia, Truncal ataxia, Gait ataxia, Dystonia, Thick eyebrow |
ORPHA:85278 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Cachexia, Abnormal circulating creatine concentration, Chorea, Hypotonia, Athetosis, Hype... |
ORPHA:52503 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Unilateral renal agenesis, Hypotonia, Methylmalonic aciduria, Elevated circula... |
ORPHA:79284 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Abnormality of the kidney, Hypopigmented skin patches, Premature grayin... |
ORPHA:895 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Tremor, Obesity, Myoclonus, Gait imbalance, I... |
ORPHA:98794 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Tremor, Unsteady gait, Hypotonia, Weight loss, Abnormality of extra... |
ORPHA:354 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetrapl... |
ORPHA:206443 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Hypotoni... |
OMIM:610768 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Hypospadias, Cachexia, Thin eyebrow |
ORPHA:3242 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Hypotonia, Cachexia |
ORPHA:1216 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia, Periodic paralysis |
OMIM:613345 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Concave nail, Tremor, Blue irides, Fine hair, Micropenis, Small na... |
OMIM:300978 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C... |
OMIM:615673 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam... |
ORPHA:276621 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Insulinoma |
|
Tremor, Lethargy, Increased body weight |
ORPHA:97279 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Failure to thrive, Axial hypotonia, Limb hypertonia |
OMIM:617162 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Ataxia, Hypotonia, Proximal tubulopathy, Lethargy, Failure to thrive |
ORPHA:2609 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Small for gestational age, Conjugated hyperbilirubinemia, Brushfield spots, Elevated... |
OMIM:614866 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Porphyria, Acute Intermittent |
|
Dysuria, Urinary incontinence, Paralysis, Depression, Urinary retention, Respiratory paralysis, E... |
OMIM:176000 |
Scrub Typhus |
|
Tremor, Lethargy, Renal insufficiency |
ORPHA:83317 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair |
ORPHA:3051 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of hair, Osteoporosis, Increased body weight, Abdominal obesity, Inf... |
ORPHA:398069 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Abnormality of the bladder, Hematuria, Fine hair, Sparse hair |
ORPHA:1839 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Paralysis, Abnormal hair morphology, Small nail |
OMIM:242100 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Osteomalacia, Increased urinary potassium, Chroni... |
ORPHA:3337 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Elevated circulating creatine kinase concentration, T... |
OMIM:614298 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Generalized hypotonia,... |
OMIM:618060 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Failure to thrive, Hypotonia, Hyperammonemia |
OMIM:615486 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism |
ORPHA:2221 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Hypotonia, Cachexia |
ORPHA:157973 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss |
ORPHA:100083 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Delayed proximal femoral epiphyseal ossification, Hypotonia, Clumsiness, Depre... |
ORPHA:90674 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Small for gestational age, Hypotonia, Hypocalcemia, Generalized hypotonia, Lethargy,... |
OMIM:607143 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Upper motor neuron dysfunction, Melanocytic nevus |
OMIM:612079 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Increa... |
ORPHA:189427 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Axial hypotonia, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnorma... |
OMIM:620306 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Renal hypoplasia, Hypotonia, Coarse hair, Nail dystrophy |
ORPHA:75389 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent... |
OMIM:242150 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Generalized hypotonia |
OMIM:619092 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss, Periodic paralysis |
OMIM:188580 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia, Recurrent urinary tract infections, Elevated circulating C-reactive protein concentrati... |
OMIM:615559 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity |
OMIM:607694 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Cachexia, Osteolysis, Metacarpal osteolysis, Gait disturbance, Carpal osteolysis, Ne... |
ORPHA:2774 |
Alpha-Heavy Chain Disease |
|
Alopecia, Hypocalcemia |
ORPHA:100025 |
Familial Cervical Artery Dissection |
|
Abnormal circulating lipid concentration, Paralysis |
ORPHA:36382 |
Gitelman Syndrome |
|
Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulatin... |
OMIM:263800 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Periodic hyperkalemic paralysis, Cerebral palsy, Elevated circulating creatine kina... |
ORPHA:682 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity |
ORPHA:71526 |
Sézary Syndrome |
|
Tremor, Alopecia, Irregular hyperpigmentation, Nail dystrophy |
ORPHA:3162 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Alopecia, Broad-based gait, Hypospadias, Small for gestational age, Low posterior hai... |
ORPHA:2959 |
Classic Mycosis Fungoides |
|
Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail |
ORPHA:2584 |
Machado-Joseph Disease Type 1 |
|
Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... |
ORPHA:276241 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Ataxia, Gait disturbance |
ORPHA:99014 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Hypertonia... |
ORPHA:79477 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Increased urinary O-linked sial... |
ORPHA:812 |
East Syndrome |
|
Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Enuresis, Hypokalemia, In... |
ORPHA:199343 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Ataxia, Abnormal eyelash morphology, Silver-gray hair, White hair, H... |
ORPHA:381 |
Snakebite Envenomation |
|
Hyponatremia, Paralysis, Pseudobulbar paralysis, Respiratory paralysis, Acute kidney injury |
ORPHA:449285 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Hypotonia, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Vocal cord paresis |
OMIM:619574 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lower ... |
ORPHA:88630 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Inability to walk, Broad-based gait, Vocal cord paralysis, Hypotonia |
OMIM:615490 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Hypotonia, Horseshoe kidney, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Abnormal pyramidal sign, Ataxia, Dystonia |
ORPHA:453533 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Satoyoshi Syndrome |
|
Osteolytic defects of the phalanges of the hand, Alopecia, Mildly elevated creatine kinase, Alope... |
OMIM:600705 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Failure to thrive, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, Letharg... |
ORPHA:199299 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Chanarin-Dorfman Syndrome |
|
Alopecia, Ataxia |
OMIM:275630 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches, Alopecia |
OMIM:300337 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Recurrent myoglobinuria, Proteinuria,... |
OMIM:607426 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Hypokalemia, Hypocalcemia, Nail dysplasia, Hypomagnesemia, Nail dystrophy, Hy... |
OMIM:175500 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Isovaleric Acidemia |
|
Lethargy, Hyperglycinuria |
OMIM:243500 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Ataxia, Hypouricemia, Increased circulating guanosine concent... |
OMIM:613179 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Rhizomelic Chondrodysplasia Punctata |
|
Epiphyseal stippling, Alopecia, Sparse body hair |
ORPHA:177 |
Classic Hodgkin Lymphoma |
|
Ataxia, Osteolysis, Weight loss |
ORPHA:391 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Ataxia, Hypospadias, Babinski sign, Lacticaciduria, Hypotonia, To... |
OMIM:252010 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Hypertonia, ... |
ORPHA:3322 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Vocal cord paralysis |
OMIM:162500 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Blue irides, Limb tremor, Obesity, Clumsiness, Hypotonia, Progressive g... |
OMIM:105830 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Methylmalonic aciduria, Hypotonia, Dysmetria |
OMIM:615578 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Ataxia, Osteoporosis, Nail pits, Reticular hyperpigmentation, Premature gr... |
OMIM:127550 |
Piebald Trait With Neurologic Defects |
|
Absent pigmentation of the ventral chest, White forelock, Ataxia |
OMIM:172850 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Increased urinary glycerol, Hypotonia |
OMIM:229700 |
Medulloblastoma |
|
Ataxia, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxia associated with qua... |
ORPHA:616 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Thick hair, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, Pig... |
ORPHA:502423 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy, Severe muscular hypotonia |
OMIM:618232 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... |
ORPHA:897 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, Falls, Dystonia |
ORPHA:683 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Urinary incontinence, Tremor, Depression, Fasciculations, Difficulty walking, Frequ... |
ORPHA:329478 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Hemiple... |
ORPHA:464 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam... |
ORPHA:29072 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Decreased urinary potassium,... |
ORPHA:79102 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Hemochromatosis, Type 1 |
|
Alopecia, Increased circulating ferritin concentration, Osteoporosis, Increased serum iron, Hyper... |
OMIM:235200 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Hypopla... |
ORPHA:544488 |
Monosomy 18P |
|
Alopecia, Generalized dystonia, Hypotonia, Low posterior hairline |
ORPHA:1598 |
Johanson-Blizzard Syndrome |
|
Alopecia, Hypoplasia of penis, Hypospadias, Abnormal hair pattern, Hypotonia, Failure to thrive, ... |
ORPHA:2315 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Nail dystrophy, Atrichia, Hy... |
ORPHA:1867 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Dry hair, Recurrent urinary tract infections, Hypospadias, Failure to thrive, Eleva... |
OMIM:619991 |
Giant Cell Arteritis |
|
Renal insufficiency, Alopecia, Ataxia, Depression, Hematuria, Weight loss |
ORPHA:397 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Aciduria, Paralysis, Osteoporosis, Hypotonia, Hypertonia, 3-Methylglutaconic aciduria, My... |
OMIM:203700 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Increased serum beta-hexosaminidase, Trem... |
ORPHA:845 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Macs Syndrome |
|
Alopecia, Sparse eyebrow, Urethral stenosis, Osteoporosis, Hypotonia, Decreased body weight, Spar... |
OMIM:613075 |
Encephalitis Lethargica |
|
Tremor, Lethargy, Urinary incontinence, Parkinsonism |
ORPHA:83600 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Alopecia, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormalit... |
ORPHA:93552 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Osteopetrosis, Generalized hypotonia, Reduced renal corticomedullary di... |
OMIM:618541 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy |
ORPHA:49827 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Craniosynostosis, Absent eyelashes, Renal cyst, Horseshoe kidney, Small... |
ORPHA:166035 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Reduced bone mineral density, Tip-toe gait, Gait distu... |
ORPHA:83629 |
Kury-Isidor Syndrome |
|
Hypotonia, Alopecia, Hydronephrosis, Hypertrichosis |
OMIM:619762 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
X-Linked Agammaglobulinemia |
|
Alopecia, Hypopigmented skin patches, Weight loss, Hypocalcemia, Failure to thrive |
ORPHA:47 |
Machado-Joseph Disease Type 3 |
|
Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... |
ORPHA:276244 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Hyperlipidemia, Stage 5 chronic kidney disease, Progressive clavicular ac... |
OMIM:608612 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceridemia, Renal insufficiency, Tub... |
OMIM:203800 |
Infantile Liver Failure Syndrome 3 |
|
Hyperammonemia |
OMIM:618641 |
Obesity And Hypopigmentation |
|
Red hair, Obesity |
OMIM:620195 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypertonia, Gait disturbance, Multiple cafe... |
ORPHA:3214 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... |
ORPHA:101 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Alopecia, Paralysis, Abnormal eyelash morphology, Rigidity, Bone cyst,... |
ORPHA:2396 |
Squalene Synthase Deficiency |
|
Hypospadias, Failure to thrive in infancy, Increased circulating farnesol concentration, Abnormal... |
OMIM:618156 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... |
OMIM:612843 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Osteolysis, Hypotonia, B... |
ORPHA:90153 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Sparse hair, Failure to ... |
ORPHA:2316 |
12Q14 Microdeletion Syndrome |
|
Hyperpigmentation of the skin, Ectopic kidney, Tremor, Synophrys, Osteopoikilosis, Renal hypoplas... |
ORPHA:94063 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Failure to thrive, Abnormality of the nail |
ORPHA:79394 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Periodic paralysis |
ORPHA:757 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... |
ORPHA:99027 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Multiple cafe-au-lait spots, Spasticity, Patchy alopecia |
ORPHA:85279 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Hypospadias, Micropenis |
OMIM:618840 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Blue irides, Advanced ossification of carpal bones, Obesity, Red hair, Fair hair |
OMIM:614613 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Hemiparesis, Hypertonia, Absent fingernail, Sparse hair, ... |
ORPHA:974 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Abnormality of skin pigmentati... |
OMIM:308300 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Postural tremor, Proteinuria, Action tremor, Unsteady gait, ... |
OMIM:254900 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelash... |
OMIM:137940 |
Amyotrophic Lateral Sclerosis |
|
Depression, Spasticity, Paralysis |
ORPHA:803 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Hypertriglyceridemia, Ataxia, Obesity, Abnormal circulating creatine kinase concentrati... |
ORPHA:98907 |
Attrv30M Amyloidosis |
|
Nephropathy, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Familial Colorectal Cancer Type X |
|
Renal neoplasm, Abnormal circulating creatine concentration, Hemiplegia/hemiparesis, Abnormal pyr... |
ORPHA:440437 |
Fatal Familial Insomnia |
|
Urinary retention, Ataxia, Myoclonus, Weight loss |
OMIM:600072 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Gait imbalance, Infantile muscular hypotonia, Hypopig... |
ORPHA:98795 |
Wilson Disease |
|
Increased body weight, Weight loss, Depression, Clumsiness, Difficulty walking, Failure to thrive |
ORPHA:905 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Hypercalcemia, Sparse axillary hair, Renal salt wasting, Decre... |
ORPHA:95409 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp... |
OMIM:617156 |
Thymic Carcinoma |
|
Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Alopecia, Renal hypoplasia, Vesicoureteral reflux, Renal dysplasia |
ORPHA:85284 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Alopecia, Hyperphosphaturia, Horseshoe kidney, Hypophosphatemic rickets, Hypopigmenta... |
OMIM:163200 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Abnormality of the ureter, Dystrophic toenail, Nail d... |
ORPHA:3253 |
Meningococcal Meningitis |
|
Lethargy, Renal insufficiency, Elevated circulating C-reactive protein concentration |
ORPHA:33475 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Mottled pigmentation, Increased circulating thyroglobulin level, Hypotonia |
ORPHA:226316 |
Foodborne Botulism |
|
Cerebral palsy, Urinary retention, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Abnormal renal corticomedullary differentiation, Generalized hypotonia |
OMIM:617397 |
Tetanus |
|
Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine level, Tremor... |
ORPHA:3299 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dysmetria, Gait ataxia... |
OMIM:618056 |
Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormality of skin ... |
ORPHA:2457 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Ectopic... |
OMIM:135100 |
Unilateral Polymicrogyria |
|
Axial hypotonia, Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordin... |
ORPHA:268943 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Vocal co... |
ORPHA:98863 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Vocal co... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Vocal co... |
ORPHA:98853 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Tremor, Abnormal pyramidal sign, Osteoporosis, Fine hair, Premature graying o... |
OMIM:612199 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Hypotonia, Spastic tetraplegia, Choreoathetosis |
OMIM:612164 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Absent eyebrow, Alopecia, Loss of eyelashes, Red urine, Osteolysis, Elevated circulat... |
OMIM:263700 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Urinary incontinence, Akinesia, Tremor, Rigidity, Babinski ... |
OMIM:234200 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Alopecia, Hypospadias, Supernumerary nipple |
ORPHA:3224 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Osteoporosis, Osteolysis, Rib oste... |
OMIM:614008 |
Tetrasomy 12P |
|
Sparse hair, Cachexia, Hypotonia, Sparse eyebrow |
ORPHA:884 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... |
OMIM:614381 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Thin nail, Small for gestational age, Inability t... |
OMIM:617799 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Osteolysis, Nail dystrophy, Osteo... |
ORPHA:90154 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Hyperkalemia |
OMIM:170500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Facial hypotonia, Babinski sign, Micropenis, Lower limb hypertonia, Patchy alopecia, Shuffling ga... |
OMIM:300534 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Waddling gait, Dystonia, Ataxia, Elevated circulating creatine kinase concentrati... |
OMIM:615356 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... |
ORPHA:1578 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Japanese Encephalitis |
|
Hyponatremia, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Opisthotonus, Ch... |
ORPHA:79139 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
Rett Syndrome |
|
Dystonia, Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity |
OMIM:312750 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Depression, Paralysis |
ORPHA:83601 |
Acute Liver Failure |
|
Incoordination, Ataxia, Slurred speech, Hyperammonemia, Depression, Acute kidney injury |
ORPHA:90062 |
Joubert Syndrome With Renal Defect |
|
Renal insufficiency, Ataxia, Highly arched eyebrow, Tremor, Hypotonia, Gait disturbance, Oculomot... |
ORPHA:220497 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Vocal cord paralysis, Hypotonia, Clumsiness, Ankle clonus, Tongue fasciculations, Knee cl... |
OMIM:211530 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Neonatal hypotonia, Axial hypotonia, Cachexia, Spastic tetraplegia, Hypotonia, Infantile muscular... |
ORPHA:371364 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Ataxia, Tremor, Hyperbilirubinemia, Myoglobinuria |
ORPHA:713 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hemiparesis, Lethargy, Failure to thrive, Hypotonia |
OMIM:620233 |
Paramyotonia Congenita Of Von Eulenburg |
|
Neonatal hypotonia, Periodic hypokalemic paresis, Abnormal blood potassium concentration |
ORPHA:684 |
Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, O... |
OMIM:307030 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Ataxia, Abnormality of the upper urinary tract, Hypotonia, Weight l... |
ORPHA:99885 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:525 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Failure t... |
ORPHA:2309 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Hypo... |
ORPHA:90673 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Aminoaciduria, Hypoalbumi... |
OMIM:277900 |
Omenn Syndrome |
|
Nephrotic syndrome, Alopecia, Failure to thrive, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Decreased body weight, Proteinuria, Abnormality of body weight, Abnormal circulating fa... |
ORPHA:2298 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Depression, Bradykinesia, Apathy, Gait imbalance, Dystonia, Spasticity |
ORPHA:2828 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis, Hyperkalemia |
OMIM:145260 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Xeroderma Pigmentosum |
|
Craniofacial hyperostosis, Alopecia, Ataxia, Hypermelanotic macule, Hypopigmented skin patches, M... |
ORPHA:910 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Lethargy, Abnormal circulating thyroglobulin level, Depression |
ORPHA:99832 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Poor motor coordination, Ataxia, Severe muscular hypotonia, Tremor, Rigidity, Chorea, G... |
ORPHA:25 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Generalized hyperpigmentation, Renal salt wasti... |
ORPHA:361 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Melanocytic ... |
ORPHA:978 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Ataxia, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, T... |
ORPHA:2750 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
Cirrhosis, Familial |
|
Increased level of propylene glycol in blood, Lethargy, Increased level of L-fucose in urine |
OMIM:215600 |
Ataxia-Telangiectasia |
|
Failure to thrive, Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal hair mo... |
OMIM:208900 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Cachexia, Abnormality of the ureter, Sparse body hair, Aplasia/Hypopla... |
ORPHA:1133 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Limb dystonia, Loss of am... |
ORPHA:2388 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Hyperlipidemia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor functio... |
OMIM:241080 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Retinal pigment epithelial mottling, Babinski sign, Dysmetria, Gait ata... |
OMIM:607459 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Hyperkinetic movements, 3-Methylglutaco... |
OMIM:616271 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Broad-based gait, Abnormal hair pattern, Cachexia, Tremor, Synophrys, Obesity |
ORPHA:85293 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia, Decreased serum zinc |
OMIM:608118 |
Lynch Syndrome |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hypotonia, Weight loss, Depression, Hypertonia, ... |
ORPHA:144 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Weight loss, Ridged fingernail, F... |
ORPHA:37 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ureteral stenosis, Ataxia, Abnormal pyramidal sign, Spastic tetraplegia... |
ORPHA:2719 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Majeed Syndrome |
|
Glomerulopathy, Increased bone mineral density, Failure to thrive, Proteinuria, Cachexia, Weight ... |
ORPHA:77297 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
ORPHA:99826 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Alobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Apathy, Limb dy... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Apathy, Limb dy... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Apathy, Limb dy... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Apathy, Limb dy... |
ORPHA:220386 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Le... |
ORPHA:469 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Cachexia, Spastic diplegia, Hypopigmented skin patches, Opisthotonus, Ankl... |
ORPHA:206436 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hemiplegia/hemiparesis, Hypopigmented skin patc... |
ORPHA:183 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Com... |
OMIM:557000 |
Kallmann Syndrome |
|
Hypoplasia of penis, Ataxia, Renal agenesis, Tremor, Obesity, Paraplegia, Reduced bone mineral de... |
ORPHA:478 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Hydroureter, Sparse eyelashes |
OMIM:616367 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Hypospadias, Sparse eyebrow, Fine hair... |
OMIM:129400 |
Necrotizing Enterocolitis |
|
Hyponatremia, Lethargy, Small for gestational age |
ORPHA:391673 |
Acute Intermittent Porphyria |
|
Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Tremor, Porphyrinur... |
ORPHA:79276 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Weight loss |
ORPHA:142 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive |
OMIM:605676 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Coronal craniosynostosis, Fine hair |
ORPHA:228390 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Renal insufficiency, Ataxia, Proteinuria, Hypermelanotic macule, Tremor, H... |
ORPHA:90321 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology, Osteolysis |
ORPHA:659 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Urinary... |
ORPHA:447753 |
Oculocerebrocutaneous Syndrome |
|
Hemiplegia/hemiparesis, Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:1647 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Ring Chromosome 10 Syndrome |
|
Hypotonia, Hypocalcemia, Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Mcdonough Syndrome |
|
Synophrys, Cachexia |
ORPHA:2471 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp |
OMIM:618373 |
Vici Syndrome |
|
Hypopigmentation of hair, Failure to thrive, Elevated circulating creatine kinase concentration, ... |
OMIM:242840 |
Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
Glossopharyngeal Neuralgia |
|
Weight loss, Vocal cord paralysis, Depression |
ORPHA:221098 |
Dengue Fever |
|
Lethargy, Hypoproteinemia |
ORPHA:99828 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Paronychia, Abnormal blood ion concentration, Renal cyst, Aplasia/Hypoplasia ... |
ORPHA:79404 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal fingernail morphology, Weight loss |
ORPHA:1164 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of... |
ORPHA:1501 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn... |
ORPHA:1775 |
19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Supernumerary nipple, Cachexia, Fine hair, Sparse or absent eyelashes, Nail dysplasi... |
ORPHA:217346 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Nephrolithiasis, Hypopigmented skin pa... |
ORPHA:2067 |
Alexander Disease |
|
Osteopenia, Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Hypotonia, Tetraplegia, Depr... |
ORPHA:58 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemipares... |
OMIM:105210 |
Prader-Willi Syndrome |
|
Osteopenia, Hypopigmentation of hair, Failure to thrive in infancy, Poor gross motor coordination... |
OMIM:176270 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Hypotonia, Irregular hyper... |
ORPHA:999 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring ... |
ORPHA:35173 |
Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy |
ORPHA:100976 |
Inhalational Botulism |
|
Urinary retention, Paralysis |
ORPHA:254504 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormal hair whorl, Reduced bone mineral density, Premature graying of h... |
ORPHA:79474 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Hypotonia, Weight loss |
ORPHA:1842 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Systemic Lupus Erythematosus |
|
Alopecia, Proteinuria, Lupus nephritis, Pyuria, Chorea, Depression, Hematuria |
ORPHA:536 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Hyperpigmentation of the skin, Renal salt wasting, Increased urinary 11-deoxycorticoste... |
ORPHA:90795 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Short Syndrome |
|
Sparse hair, Alopecia, Weight loss |
ORPHA:3163 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depression, Pigmentary retino... |
ORPHA:79095 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Axial hypotonia, Vocal cord paralysis, Myoclonus, Dystonia, Spasticity |
ORPHA:500144 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ... |
OMIM:268400 |
Mogs-Cdg |
|
Alopecia, Infantile muscular hypotonia, Long eyelashes, Dystonia, Fair hair, Hirsutism |
ORPHA:79330 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Weight loss, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia |
OMIM:616576 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis, Hypotonia, Small for gestational age, Elevated circulating creatine kinase conc... |
OMIM:618775 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Ocular albinism, Giant melanosomes in... |
OMIM:214500 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Systemic Sclerosis |
|
Alopecia, Renal insufficiency, Proteinuria, Elevated circulating creatine kinase concentration, N... |
ORPHA:90291 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Sparse scalp hair, Alopecia, Osteopenia, Hyperlipidemia, Progressive clavicular acroo... |
OMIM:248370 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Spasticity, Babinski sign, Cachexia, Dystonia |
OMIM:618186 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
Polymyositis |
|
Elevated circulating creatine kinase concentration, Hypotonia, Weight loss, Gait disturbance, Abn... |
ORPHA:732 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Ataxia, Hypospadias, Phimosis, Reticulated s... |
OMIM:305000 |
African Trypanosomiasis |
|
Alopecia, Abnormal central motor function, Renal insufficiency, Involuntary movements, Urinary in... |
ORPHA:3385 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Peri... |
OMIM:276700 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Tubulointerst... |
ORPHA:37042 |
Staphylococcal Necrotizing Pneumonia |
|
Lethargy, Elevated circulating C-reactive protein concentration |
ORPHA:36238 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Hematuria, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial n... |
OMIM:158310 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Ataxia, Proteinuria, Tremor, Hypotonia, Dysmetria, Renal cyst, Nephrotic syndrome, Pr... |
OMIM:212065 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Tremor, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, In... |
OMIM:274150 |
Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... |
ORPHA:398063 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Hyperpigmentation of the skin, Craniosynostosis, Depigmentation/hyperpigmentation of sk... |
ORPHA:79396 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... |
ORPHA:352731 |
Whipple Disease |
|
Hyponatremia, Generalized hyperpigmentation, Ataxia, Cachexia, Abnormal pyramidal sign, Depressio... |
ORPHA:3452 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Hyperpigmentation of the skin, Abnor... |
ORPHA:168569 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow |
OMIM:261990 |
Colchicine Poisoning |
|
Hyponatremia, Alopecia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophos... |
ORPHA:31824 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Sparse eyelashes, Alopecia totalis, ... |
ORPHA:2909 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Bradykinesia, Urinar... |
OMIM:146500 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Axial hypotonia, Blue irides, Hypopigmented skin patches, Ocular ... |
OMIM:611584 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Failure to thrive, Glomerulonephritis |
OMIM:304790 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Alopecia, Hydroureter, Abnormally ossified vertebrae, Abnormality of the kidney, Abno... |
ORPHA:2636 |
Trichinellosis |
|
Babinski sign, Hemiparesis, Apathy, Hemiplegia, Lethargy |
ORPHA:863 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Facial hypotonia, Sparse eyebrow, Tremor, Hypotonia, Tip-toe gait, Frontal upsweep... |
OMIM:617557 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal pyramidal sign, Hypopigme... |
ORPHA:163746 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Elevated circulating C-reactive protein concentration, Craniofacial osteosclerosis, Osteolysis, W... |
ORPHA:324964 |
Addison Disease |
|
Hyponatremia, Failure to thrive, Hypercalcemia, Sparse axillary hair, Renal salt wasting, Decreas... |
ORPHA:85138 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Mildly elevated creatine kinase |
ORPHA:397744 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of retinal pigmentation, Urinary incontinence, Tremor, Inability to walk, Babinski si... |
ORPHA:466768 |
Juvenile Dermatomyositis |
|
Calcinosis, Alopecia, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:93672 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypopigmentation of the skin, Hypopigmentation of hair, Hypertriglyceridemia, Ataxi... |
ORPHA:167 |
Bartsocas-Papas Syndrome |
|
Alopecia totalis, Renal hypoplasia/aplasia, Hypoplastic toenails, Sparse or absent eyelashes, Apl... |
ORPHA:1234 |
Graves Disease, Susceptibility To, 1 |
|
Onycholysis, Weight loss |
OMIM:275000 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Poliomyelitis |
|
Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Fasciculations |
ORPHA:2912 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pub... |
ORPHA:2232 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Facial hypotonia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,... |
ORPHA:2131 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, Hypotonia, Renal tubular dysfunction, Hypertonia,... |
OMIM:616539 |
Brittle Cornea Syndrome |
|
Neonatal hypotonia, Osteoporosis, Abnormality of hair pigmentation, Gait disturbance |
ORPHA:90354 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Nephrocalcinosis, Pigmentary retinopathy, Nail dystrophy, Alopecia universalis, Vitiligo |
OMIM:240300 |
Cockayne Syndrome |
|
Dry hair, Urinary incontinence, Progressive gait ataxia, Hypertonia, Intention tremor, Ataxia, Re... |
ORPHA:191 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Apathy, G... |
OMIM:601104 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Reduced bone mineral density, Weight loss, Hypokalem... |
OMIM:619377 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Epiph... |
OMIM:302960 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Alopecia, Hyperlipidemia, Choreoathetosis, Dystonia, Micropenis, Aplasia/Hypoplasia o... |
ORPHA:3464 |
Osteosarcoma |
|
Osteolysis, Weight loss |
ORPHA:668 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Polyarteritis Nodosa |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hyperalaninemia, Cachexia, Weight loss |
ORPHA:298 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia |
OMIM:618282 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Trichorrhexis nodosa, Nephrotic syndrome, Breast aplas... |
ORPHA:238468 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair |
OMIM:607626 |
Felty Syndrome |
|
Recurrent urinary tract infections, Generalized hyperpigmentation, Osteolysis, Weight loss, Irreg... |
ORPHA:47612 |
Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphat... |
ORPHA:466650 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Failure to thrive |
ORPHA:169154 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Immunodeficiency 27A |
|
Hypoalbuminemia, Weight loss |
OMIM:209950 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Urinary incontinence, Tremor, Tip-toe gait, Gait disturbance, Decerebrate... |
ORPHA:512 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Alopecia, Recurrent urinary tract infections, Hypospadias, Slender build, Cranios... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Alopecia, Recurrent urinary tract infections, Hypospadias, Slender build, Cranios... |
ORPHA:363958 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Elevated circulating C-reactive protein concentration, Paralysis,... |
ORPHA:297 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:3453 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the blad... |
ORPHA:29073 |
Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Increased circulating ferritin conc... |
OMIM:615846 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Leukonychia, Weight loss, Sclerosis of skull base... |
ORPHA:2905 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Abnormality of skin pigmentation, Nail dystrophy, Failure to thrive |
OMIM:620040 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis |
OMIM:300918 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Paralysis, Decreased urinary potassium, Hypermagnesemia, Tubul... |
ORPHA:358 |
Glycine Encephalopathy |
|
Lethargy, Hyperglycinemia, Hypotonia |
ORPHA:407 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Coronal craniosynost... |
ORPHA:53271 |
Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Hypospadias, Absent eyelashes, Patchy a... |
OMIM:106260 |
Nephroblastoma |
|
Hematuria, Nephroblastoma, Weight loss |
ORPHA:654 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular al... |
OMIM:203300 |
Pineoblastoma |
|
Lethargy, Paralysis |
ORPHA:251909 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Alopecia, Alopecia totalis, Hyperkalemia, Nail dystrophy, Failure to thrive, Abnorm... |
ORPHA:293978 |
Mixed Connective Tissue Disease |
|
Nephropathy, Alopecia, Osteolysis |
ORPHA:809 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Weight loss |
ORPHA:97289 |
Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dystonia, Intention tremor... |
ORPHA:646 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Increased bone mineral density, Abnormally ossified vertebrae, Decre... |
ORPHA:800 |
Omenn Syndrome |
|
Alopecia, Failure to thrive, Hypoproteinemia |
OMIM:603554 |
Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis, Distal renal tubular acidosis, Periodi... |
OMIM:259730 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology |
ORPHA:1005 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Erdheim-Chester Disease |
|
Renal insufficiency, Increased bone mineral density, Ataxia, Dysuria, Osteolysis, Weight loss, Hy... |
ORPHA:35687 |
Menkes Disease |
|
Hypopigmentation of hair, Chorea, Osteoporosis, Hypotonia, Bladder diverticulum, Hypertonia, Spar... |
ORPHA:565 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Hypertriglyceridemia, Alopecia, Sparse eyelashes, Hypospadias,... |
OMIM:264090 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tremor, Inability to walk, Vocal cord paralysis, Poor fine motor coordination, Tip-toe gait, Diff... |
ORPHA:99956 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Hypoton... |
ORPHA:96169 |
Ane Syndrome |
|
Hyperpigmented nevi, Alopecia, Hyperpigmentation of the skin |
ORPHA:157954 |
Amoebiasis Due To Free-Living Amoebae |
|
Hemiparesis, Intrarenal abscess, Ataxia, Lethargy |
ORPHA:68 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Al Amyloidosis |
|
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... |
ORPHA:85443 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre... |
ORPHA:3440 |
Intrahepatic Cholestasis Of Pregnancy |
|
Small for gestational age, Tremor, Depression, Increased serum bile acid concentration, Hyperbili... |
ORPHA:69665 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail |
OMIM:609638 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Histiocytoid Cardiomyopathy |
|
Hemiplegia, Lethargy, Failure to thrive, Renal cyst |
ORPHA:137675 |
Triosephosphate Isomerase Deficiency |
|
Tremor, Unsteady gait, Hypotonia, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive |
OMIM:615512 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... |
ORPHA:171876 |
Riddle Syndrome |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Enuresis nocturna, Clumsiness, Weig... |
ORPHA:420741 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Cachexia, Poor coordination, Hypoalbuminemia, Failure to thrive |
OMIM:610965 |
Mucolipidosis Type Ii |
|
Dry hair, Axial hypotonia, Craniosynostosis, Inability to walk, White hair, Weight loss, Fine hai... |
ORPHA:576 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Hyperpigmentation of the skin, Alope... |
ORPHA:221008 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Obesity, Hyperbilirubinemia |
OMIM:609734 |
Leishmaniasis |
|
Hypoalbuminemia, Weight loss |
ORPHA:507 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Nephrolithiasis, Hypercalciuria, Depression, Reduced bone mineral density, Osteoly... |
ORPHA:652 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Hypopigmentation of hair, Small for gestational age, Osteoporosis, Obesity, Hypotonia... |
ORPHA:98754 |
Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
Kaposi Sarcoma |
|
Hypermelanotic macule, Weight loss |
ORPHA:33276 |
Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concent... |
ORPHA:370348 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic paralysis, Renal hypoplasia, Renal tubular dysfunction,... |
ORPHA:37553 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
Hydranencephaly |
|
Lethargy, Spastic diplegia, Opisthotonus |
ORPHA:2177 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Ataxia, Proteinuria, Elevated circulating C-reactive ... |
ORPHA:355 |
Degcags Syndrome |
|
Osteopenia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Vocal cord paralysis, P... |
OMIM:619488 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Proteinuria, Elevated circulating creatine kinase... |
ORPHA:94093 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nev... |
ORPHA:79430 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Hypopigmentation of hair, Small for gestational age, Osteoporosis, Obesity, Hypotonia... |
ORPHA:98793 |
Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
Aggressive Systemic Mastocytosis |
|
Osteoporosis, Osteolysis, Weight loss |
ORPHA:98850 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Delayed proximal femoral epiphyseal ossification, Hypotonia, Lethargy, Abnormal circu... |
ORPHA:226307 |
Immunodeficiency 7 |
|
Failure to thrive, Patchy alopecia, Vitiligo |
OMIM:615387 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Hypopigmentation of hair, Small for gestational age, Osteoporosis, Obesity, Hypotonia... |
ORPHA:177904 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Proteinuria, Hypotonia, Weight loss |
ORPHA:35858 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Hypopigmentation of hair, Small for gestational age, Osteoporosis, Obesity, Hypotonia... |
ORPHA:177901 |
Solitary Fibrous Tumor |
|
Hypophosphatemic rickets, Reduced C-peptide level, Urinary retention, Weight loss |
ORPHA:2126 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Rift Valley Fever |
|
Paralysis, Paraparesis, Hemiparesis, Hematuria, Decerebrate rigidity |
ORPHA:319251 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... |
OMIM:230740 |
Silver-Russell Syndrome |
|
Hypospadias, Failure to thrive in infancy, Cachexia, Obesity, Abnormality of the urinary system, ... |
ORPHA:813 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Hypotonia, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Hypertonia, Ge... |
OMIM:617248 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
Focal Dermal Hypoplasia |
|
Alopecia, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Abnormality o... |
ORPHA:2092 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Alopecia, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Hyperpigmentation of the skin, Alope... |
ORPHA:221016 |
Phakomatosis Pigmentokeratotica |
|
Renal transitional cell carcinoma, Hemiparesis, Unilateral renal hypoplasia, Melanocytic nevus, P... |
ORPHA:2874 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Reduced bone mineral den... |
ORPHA:2108 |
Igg4-Related Aortitis |
|
Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Alopecia, Hypertriglyceridemia, Hypotonia |
ORPHA:536532 |
Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Osteopenia, Tremor, Osteoporosis, Weight loss, Hypokalemia, Periodic hypo... |
ORPHA:91347 |
Alveolar Echinococcosis |
|
Ataxia, Bone cyst, Renal cyst, Weight loss, Hemiparesis, Abnormal bladder morphology |
ORPHA:284 |
Cockayne Syndrome B |
|
Dry hair, Renal insufficiency, Ataxia, Proteinuria, Small for gestational age, Abnormal hair morp... |
OMIM:133540 |
Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... |
ORPHA:91139 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Papillary rena... |
ORPHA:363618 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Osteoporosis, Nephrolithiasis, Renal cyst, H... |
ORPHA:143 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Depression, Hypokalemia, Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
Linear Nevus Sebaceus Syndrome |
|
Hypotonia, Alopecia, Irregular hyperpigmentation, Melanocytic nevus |
ORPHA:2612 |
Early Infantile Epileptic Encephalopathy |
|
Tremor, Micropenis, Absent thumbnail, Choreoathetosis, Myoclonus, Ureterocele, Dystonia, Episodic... |
ORPHA:1934 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Low plasma citrulline, Abnormal blood ion concentration, Weight loss |
ORPHA:95427 |
Cystic Echinococcosis |
|
Bone cyst, Renal cyst, Weight loss, Membranous nephropathy, Hyperbilirubinemia |
ORPHA:400 |
Castleman Disease |
|
Myelofibrosis, Renal insufficiency, Elevated circulating C-reactive protein concentration, Weight... |
ORPHA:160 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Ep... |
OMIM:308050 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Failure to thrive in infancy, Alopecia universalis |
OMIM:606367 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2070 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Spasticity, Ataxia, Numerous pigmented freckles, Cachexia |
ORPHA:220295 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Appendicular hypotonia, H... |
ORPHA:2072 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
Distal Deletion 19P |
|
Alopecia, Hypotonia, Thick eyebrow |
ORPHA:96129 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Weight loss, Difficulty walking |
OMIM:164310 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia, Abnormality of the nail |
ORPHA:28378 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Yao Syndrome |
|
Nephrolithiasis, Weight loss |
OMIM:617321 |
Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive |
ORPHA:1329 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Ebola Hemorrhagic Fever |
|
Lethargy |
ORPHA:319218 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Increased circulating thyroglobulin level, Hypotonia, Hyperbilirubinemia |
OMIM:218700 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:2494 |
Diamond-Blackfan Anemia |
|
Renal agenesis, Hypospadias, Small for gestational age, Low anterior hairline, Horseshoe kidney, ... |
ORPHA:124 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Tremor, Inability to walk, Osteoporosis, Hypertonia, Infantile muscular hypoton... |
ORPHA:86309 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... |
ORPHA:1018 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, High urinary ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, High urinary ... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, High urinary ... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, High urinary ... |
ORPHA:881 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis |
OMIM:615577 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:54251 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Prader-Willi Syndrome |
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Osteopenia, Hypopigmentation of hair, Osteoporosis, Hypotonia, Abdominal obesity, Failure to thri... |
ORPHA:739 |
Steinert Myotonic Dystrophy |
|
Alopecia, Early balding, Inability to walk, Depression, Poor fine motor coordination, Gait distur... |
ORPHA:273 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
Syndromic Diarrhea |
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Hypopigmentation of hair, Brittle hair, Small for gestational age, Renal hypoplasia, Abnormality ... |
ORPHA:84064 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Absent eyebrow, Alopecia, Thin fingernail, Hydroureter, Abnormality of the kidney, Abnormality of... |
ORPHA:2273 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Albinism, Oculocutaneous, Type Ia |
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Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Benign Recurrent Intrahepatic Cholestasis |
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Weight loss |
ORPHA:65682 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Hyperkalemia, Abnormal urine po... |
ORPHA:275761 |
Williams-Beuren Syndrome |
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Osteopenia, Vocal cord paralysis, Premature graying of hair, Nephrocalcinosis, Generalized hypoto... |
OMIM:194050 |
Familial Gestational Hyperthyroidism |
|
Hand tremor, Weight loss |
ORPHA:99819 |
Chronic Beryllium Disease |
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Weight loss |
ORPHA:133 |
Desmoplastic Small Round Cell Tumor |
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Cachexia, Weight loss |
ORPHA:83469 |
Rheumatoid Arthritis |
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Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Localized Scleroderma |
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Abnormal skin adnexa morphology, Hyperpigmentation of the skin, Abnormality of the kidney, Hypopi... |
ORPHA:90289 |
Bartsocas-Papas Syndrome 1 |
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Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Ectopic kidney, Absent eyelashes, ... |
OMIM:263650 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Alopecia, Renal hypoplasia, Abdominal obesity, Azotemia, Generalized hypopigmentation, Micropenis |
OMIM:619321 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
Idiopathic Bronchiectasis |
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Cachexia |
ORPHA:60033 |
Inflammatory Pseudotumor Of The Liver |
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Elevated circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:90003 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Weight loss |
ORPHA:139402 |
Kikuchi-Fujimoto Disease |
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Alopecia, Ataxia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:50918 |
Cap Polyposis |
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Weight loss |
ORPHA:160148 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Tremor, Nystagmus, And Duodenal Ulcer |
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Tremor, Kinetic tremor |
OMIM:190310 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Abnormality of retinal pigmentation, Elevated circulating C-reactive protein concentration, Eleva... |
ORPHA:91500 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Weight loss |
ORPHA:514 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Urethral stricture, Nail dystrophy, Difficulty walking, Sparse hair, Failure to thrive, Alopecia ... |
ORPHA:158668 |
Lethal Acantholytic Erosive Disorder |
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Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... |
ORPHA:158687 |
Trisomy 18 |
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Abnormality of retinal pigmentation, Abnormality of the upper urinary tract, Cachexia, Hypotonia,... |
ORPHA:3380 |
Peritoneal Cystic Mesothelioma |
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Weight loss |
ORPHA:168816 |
Renal Nutcracker Syndrome |
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Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
Trichotillomania |
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Alopecia |
OMIM:613229 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Severe muscular hypotonia, Abnormality of the kidney, Obesity, Neonatal... |
ORPHA:177907 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Orofaciodigital Syndrome I |
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Alopecia, Dry hair, Proteinuria, Polycystic kidney dysplasia, Sparse hair |
OMIM:311200 |
Ring Chromosome 13 Syndrome |
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Alopecia, Hypospadias, Abnormality of skin pigmentation, Generalized hypotonia, Abnormal renal ph... |
ORPHA:96176 |
Brittle Cornea Syndrome 1 |
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Red hair |
OMIM:229200 |
Acute Promyelocytic Leukemia |
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Hematuria, Weight loss |
ORPHA:520 |
Autoimmune Polyendocrinopathy Type 4 |
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Osteopenia, Tubulointerstitial nephritis, Alopecia, Vitiligo |
ORPHA:227990 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Granulomatosis With Polyangiitis |
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Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... |
ORPHA:900 |
Camurati-Engelmann Disease |
|
Waddling gait, Ataxia, Cachexia, Craniofacial osteosclerosis, Cortical thickening of long bone di... |
ORPHA:1328 |
Autoimmune Polyendocrinopathy Type 3 |
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Osteopenia, Tubulointerstitial nephritis, Alopecia, Vitiligo |
ORPHA:227982 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hyponatremia, Frontal balding, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epi... |
ORPHA:90794 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Hypospadias, Weight loss, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Micropenis, Reduce... |
OMIM:613673 |
Arnold-Chiari Malformation Type I |
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Urinary incontinence, Babinski sign, Vocal cord paralysis, Gait ataxia, Progressive cerebellar at... |
ORPHA:268882 |
Limb-Mammary Syndrome |
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Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... |
ORPHA:69085 |
Fryns-Smeets-Thiry Syndrome |
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Hypotonia, Cachexia |
ORPHA:2058 |
8P23.1 Microdeletion Syndrome |
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Hypospadias, Obesity, Weight loss |
ORPHA:251071 |
Sarcoidosis |
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Alopecia, Renal insufficiency, Hypercalcemia, Bone cyst, Nephrolithiasis, Hypercalciuria, Weight ... |
ORPHA:797 |
Autosomal Recessive Robinow Syndrome |
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Multicystic kidney dysplasia, Alopecia, Hypoplasia of penis, Long eyelashes, Fingernail dysplasia... |
ORPHA:1507 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Autosomal Dominant Robinow Syndrome |
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Abnormal penis morphology, Alopecia, Hypoplasia of penis, Hypospadias, Curly eyelashes, Epispadia... |
ORPHA:3107 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Renal insufficiency, Osteoporosis, Depression, Weight loss, Hypoalbuminemia |
ORPHA:171 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
Brucellosis |
|
Small for gestational age, Glomerulonephritis, Elevated circulating C-reactive protein concentrat... |
ORPHA:1304 |
Relapsing Polychondritis |
|
Glomerulopathy, Alopecia, Renal insufficiency, Proteinuria, Hematuria |
ORPHA:728 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Enlarged kidney, Weight loss |
ORPHA:79128 |
Seckel Syndrome |
|
Sparse scalp hair, Cachexia, Craniosynostosis |
ORPHA:808 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated carcinoembryonic antigen level, Elevated circulating alpha-fetoprotein concentration, We... |
ORPHA:100085 |
Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Ataxia, Abnormal pyramidal sign, Weight loss, Hemiparesis, G... |
ORPHA:117 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Hypermelanotic macule, Loss of eyelashes, Reduced bone mineral ... |
ORPHA:740 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal h... |
ORPHA:818 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Weight loss, Hematuria, Incr... |
ORPHA:60025 |
Chronic Graft Versus Host Disease |
|
Alopecia, Phimosis, Urinary bladder inflammation, Weight loss, Hematuria, Abnormality of skin pig... |
ORPHA:99921 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Steppage gait, Sparse body hair |
ORPHA:548 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria... |
ORPHA:48435 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Osteoporosis, Weight loss |
ORPHA:98849 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Hypotonia, Generalized hypotonia, Small nail |
OMIM:100300 |
Thymoma |
|
Glomerulonephritis, Weight loss |
ORPHA:99867 |
Eisenmenger Syndrome |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Hyperuricemia, Abnorm... |
ORPHA:97214 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Multicystic kidney dysplas... |
OMIM:308205 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Polycystic k... |
ORPHA:53035 |
Polycythemia Vera |
|
Myelofibrosis, Weight loss |
ORPHA:729 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Multiple cafe-au-lait spots, Irregular hyperpigmentation, Hypotonia, Cachexia |
ORPHA:109 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Cachexia, Abnormal hair morphology, Low anterior hairline, Pollakisuria, ... |
ORPHA:647 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
Bloom Syndrome |
|
Recurrent urinary tract infections, Sparse eyelashes, Small for gestational age, Paronychia, Abdo... |
ORPHA:125 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Weight loss |
ORPHA:67 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Sparse axillary hair, Unilateral renal agenesis, Sparse pubic hair, Renal hy... |
OMIM:181270 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia |
OMIM:269200 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Dystrophic fingernails, Abnormality of the nail, Weight loss |
ORPHA:29207 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Axial hypotonia, Sparse eyelashes, Hypospadias, Supernumerary nipple... |
OMIM:601803 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Stevens-Johnson Syndrome |
|
Abnormality of the urethra, Renal insufficiency, Dysuria, Weight loss |
ORPHA:36426 |
Toxic Epidermal Necrolysis |
|
Abnormality of the urethra, Renal insufficiency, Dysuria, Weight loss |
ORPHA:537 |
Malignant Atrophic Papulosis |
|
Abnormality of the lower urinary tract, Weight loss |
ORPHA:679 |
Sympathetic Ophthalmia |
|
Vitiligo, Alopecia, Poliosis |
ORPHA:79098 |
Dermatomyositis |
|
Abnormal hair quantity, Hypotonia, Abnormality of the nail, Weight loss |
ORPHA:221 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Sparse scalp hair, Hyperpigmentation of the skin, Osteoporosis,... |
ORPHA:99889 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Cachexia, Melanocytic nevus, Multiple cafe-au-lait spots, Ge... |
ORPHA:1969 |
Q Fever |
|
Hematuria, Weight loss |
ORPHA:781 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Microsporidiosis |
|
Cachexia, Urethritis, Weight loss, Abnormality of the urinary system physiology, Nephritis |
ORPHA:2552 |
Pyomyositis |
|
Renal insufficiency, Weight loss |
ORPHA:764 |
Behcet Syndrome |
|
Patchy alopecia, Decreased level of D-mannose in urine |
OMIM:109650 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Cranio... |
ORPHA:744 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia, Weight loss |
ORPHA:913 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Hypotonia, Weight loss |
ORPHA:2020 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Immunodeficiency 31C |
|
Osteopenia, Weight loss |
OMIM:614162 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Glucagonoma |
|
Weight loss, Hypercalcemia, Depression |
ORPHA:97280 |
Marfan Syndrome |
|
Osteopenia, Cachexia, Osteoporosis, Hypotonia, Slender build |
ORPHA:558 |
Juvenile Polyposis Of Infancy |
|
Generalized hypotonia, Hypoalbuminemia, Cachexia |
ORPHA:79076 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Sarcoidosis, Susceptibility To, 1 |
|
Bone cyst, Hypercalciuria, Weight loss |
OMIM:181000 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, Cystocele, Osteo... |
ORPHA:286 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Hypotonia, Failure to thrive, Hydronephrosis, Hirsutism |
OMIM:619472 |
Stickler Syndrome |
|
Cachexia, Hemiplegia/hemiparesis, Hypotonia, Reduced bone mineral density, Slender build |
ORPHA:828 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, ... |
OMIM:305600 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Weight loss |
ORPHA:100078 |
Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Weight loss |
ORPHA:97282 |
Ppoma |
|
Hypercalcemia, Weight loss |
ORPHA:97278 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomalacia, Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia... |
OMIM:619381 |
Somatostatinoma |
|
Hypercalcemia, Weight loss |
ORPHA:97283 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Grfoma |
|
Hypercalcemia, Weight loss |
ORPHA:97261 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:301074 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Norrie Disease |
|
Clonus, Cachexia, Hypotonia, Hypertonia, Failure to thrive |
ORPHA:649 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Weight loss |
ORPHA:79078 |
Nocardiosis |
|
Weight loss |
ORPHA:31204 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Cachexia |
ORPHA:75565 |