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Gene: Btd MGI:1347001

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

biotinidase

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Btd mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Btd (2 diseases)
Human diseases predicted to be associated with Btd (1268 diseases)

The table below shows human diseases associated to Btd by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Biotinidase Deficiency		Alopecia, Ataxia, Hypotonia, Hyperammonemia, Organic aciduria, Lethargy	OMIM:253260
Biotinidase Deficiency		Alopecia, Ataxia, Hypotonia, Hyperammonemia, Organic aciduria, Spastic paraparesis, Lethargy	ORPHA:79241

The table below shows human diseases predicted to be associated to Btd by phenotypic similarity.

Disease	Matching phenotypes	Source
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	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	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	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Small for gestational age, Renal hypoplasia, Abnormality ...	ORPHA:84064
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	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	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Hyperkalemia, Abnormal urine po...	ORPHA:275761
Williams-Beuren Syndrome	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	Weight loss	ORPHA:133
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Localized Scleroderma	Abnormal skin adnexa morphology, Hyperpigmentation of the skin, Abnormality of the kidney, Hypopi...	ORPHA:90289
Bartsocas-Papas Syndrome 1	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	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	Cachexia	ORPHA:60033
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Weight loss	ORPHA:90003
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Weight loss	ORPHA:139402
Kikuchi-Fujimoto Disease	Alopecia, Ataxia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:50918
Cap Polyposis	Weight loss	ORPHA:160148
Bullous Pemphigoid	Weight loss	ORPHA:703
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Tubulointerstitial Nephritis And Uveitis Syndrome	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	Urethral stricture, Nail dystrophy, Difficulty walking, Sparse hair, Failure to thrive, Alopecia ...	ORPHA:158668
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,...	ORPHA:158687
Trisomy 18	Abnormality of retinal pigmentation, Abnormality of the upper urinary tract, Cachexia, Hypotonia,...	ORPHA:3380
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria	ORPHA:71273
Trichotillomania	Alopecia	OMIM:613229
Prader-Willi Syndrome Due To Translocation	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	Alopecia, Dry hair, Proteinuria, Polycystic kidney dysplasia, Sparse hair	OMIM:311200
Ring Chromosome 13 Syndrome	Alopecia, Hypospadias, Abnormality of skin pigmentation, Generalized hypotonia, Abnormal renal ph...	ORPHA:96176
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Acute Promyelocytic Leukemia	Hematuria, Weight loss	ORPHA:520
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Tubulointerstitial nephritis, Alopecia, Vitiligo	ORPHA:227990
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	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	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	Osteopenia, Tubulointerstitial nephritis, Alopecia, Vitiligo	ORPHA:227982
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Frontal balding, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epi...	ORPHA:90794
Anemia, Congenital Dyserythropoietic, Type Iv	Hypospadias, Weight loss, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Micropenis, Reduce...	OMIM:613673
Arnold-Chiari Malformation Type I	Urinary incontinence, Babinski sign, Vocal cord paralysis, Gait ataxia, Progressive cerebellar at...	ORPHA:268882
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic...	ORPHA:69085
Fryns-Smeets-Thiry Syndrome	Hypotonia, Cachexia	ORPHA:2058
8P23.1 Microdeletion Syndrome	Hypospadias, Obesity, Weight loss	ORPHA:251071
Sarcoidosis	Alopecia, Renal insufficiency, Hypercalcemia, Bone cyst, Nephrolithiasis, Hypercalciuria, Weight ...	ORPHA:797
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Alopecia, Hypoplasia of penis, Long eyelashes, Fingernail dysplasia...	ORPHA:1507
Loeffler Endocarditis	Weight loss	ORPHA:75566
Autosomal Dominant Robinow Syndrome	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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Btd

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Btd.

No publications found that use IMPC mice or data for Btd.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Btd^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Btd^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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