Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Atp7b MGI:103297

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ATPase, Cu++ transporting, beta polypeptide

Synonyms:

WND, Wilson protein, Atp7a

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 Atp7b 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 Atp7b (2 diseases)
Human diseases predicted to be associated with Atp7b (857 diseases)

The table below shows human diseases associated to Atp7b by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Wilson Disease		Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hy...	OMIM:277900
Wilson Disease		Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905

The table below shows human diseases predicted to be associated to Atp7b by phenotypic similarity.

Disease	Matching phenotypes	Source
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, R...	OMIM:613280
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Hemochromatosis, Type 3	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc...	OMIM:604250
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Growth delay, Athetosis, Spasticity, Hypopigmentation of the skin	OMIM:257800
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Small for gestational age, Decreased serum iron, Chronic hepatitis, U...	OMIM:614602
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,...	ORPHA:48818
Hemochromatosis, Type 5	Abnormal circulating transferrin concentration, Increased circulating ferritin concentration, Ele...	OMIM:615517
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Impo...	OMIM:606069
Gemignani Syndrome	Short stature, Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Hypopigmented skin patche...	ORPHA:2074
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:242150
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Melanin pigment...	OMIM:607624
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Impaired vibration sensation in the lower limbs, Clumsiness, Abnormal circulating creatine kinase...	ORPHA:521411
Copper Deficiency, Familial Benign	Curly hair, Failure to thrive, Decreased circulating copper concentration, Early balding	OMIM:121270
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Increased c...	OMIM:235200
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Premature gray...	ORPHA:33445
Cog2-Cdg	Spastic tetraplegia, Decreased circulating ceruloplasmin concentration, Decreased circulating cop...	ORPHA:435934
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment	OMIM:617018
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Intrauterine growth retardation, Hypertonia, Hyposerinemia	OMIM:614023
Dyschromatosis Universalis Hereditaria	Short stature, Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multip...	ORPHA:241
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:617395
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Familial Benign Copper Deficiency	Early balding, Decreased circulating copper concentration, Short stature	ORPHA:1551
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s...	ORPHA:363400
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Budd-Chiari Syndrome	Cirrhosis, Hepatocellular carcinoma	OMIM:600880
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Short stature, Hepatocellular carcinoma, Hyperlipide...	ORPHA:369
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Paraplegia, Gait disturbance, Spasticity, Hyperpigmentation of the skin	ORPHA:2819
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis, Hyperpigmentat...	OMIM:176100
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
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
Huppke-Brendel Syndrome	Inability to walk, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	OMIM:614482
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity...	OMIM:616719
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul...	ORPHA:309169
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare...	OMIM:615924
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Thic...	ORPHA:263501
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation...	OMIM:256710
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis	OMIM:271500
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Spinocerebellar Ataxia 37	Tremor, Unsteady gait, Frequent falls, Ataxia	OMIM:615945
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Hepatocellu...	ORPHA:465508
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp...	ORPHA:89838
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia	ORPHA:217012
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Hypertonia, Hepatomegaly, Abnormal blood inorganic cation concentration...	ORPHA:309854
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Spinal Muscular Atrophy, Jokela Type	Elevated circulating creatine kinase concentration, Tremor, Distal sensory impairment, Fasciculat...	OMIM:615048
Griscelli Syndrome Type 1	Partial albinism, Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Hypertonia, Iris...	ORPHA:79476
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Generalized hyperpigmentation, Increased circulating ferritin conc...	ORPHA:79230
Spinocerebellar Ataxia Type 38	Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia	ORPHA:423296
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Short stature, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ...	OMIM:613027
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Mildly elevated creatine kinase, Distal sensory impairment	OMIM:614369
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Short stature, Partial albinism	ORPHA:90023
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Thick hair, Splenomegaly, Cirrhosis, Hepatic...	OMIM:613489
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Urocanase Deficiency	Broad-based gait, Short stature, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a...	OMIM:613490
Obesity Due To Prohormone Convertase I Deficiency	Obesity, Cholestasis, Growth delay, Delayed puberty, Red hair, Failure to thrive, Hypopigmentatio...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Obesity, Cholestasis, Growth delay, Delayed puberty, Red hair, Failure to thrive, Hypopigmentatio...	ORPHA:71526
Galactosemia I	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati...	OMIM:230400
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating...	OMIM:616860
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Trichohepatoenteric Syndrome 1	Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Intrauterine growth retardation, He...	OMIM:222470
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Crigler-Najjar Syndrome Type 1	Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro...	ORPHA:79234
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,...	ORPHA:521406
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Cirrhosis, Hepatic failure, Short stature, Portal hypertension	OMIM:210050
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi...	OMIM:601847
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Increased se...	OMIM:603358
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol...	OMIM:605814
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death, Eosinophilia, Neutropenia	OMIM:257100
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Premature graying of hair, Bone marrow hypocellularity, Cirrhosis,...	OMIM:614743
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Reticulated skin ...	ORPHA:79397
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Obesity, Hypopigmentation...	ORPHA:177910
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Spastic Paraparesis And Deafness	Tremor, Short stature, Spastic paraparesis	OMIM:312910
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Albinism	ORPHA:2786
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Lichtenstein-Knorr Syndrome	Ataxia, Short stature, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor	OMIM:616291
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hy...	OMIM:277900
Dystonia 28, Childhood-Onset	Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto...	OMIM:617284
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Abnormality of the...	OMIM:614307
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Hyperpigmentation of the skin, Elevated hepatic tr...	ORPHA:75563
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Low anterior hairline, Hypertrichosis, Amenorrhea, Low poster...	ORPHA:528
Cholestasis, Progressive Familial Intrahepatic, 4	Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure	OMIM:615878
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Classic Phenylketonuria	Hypopigmentation of hair, Tremor, Paraplegia, Growth delay, Hypertonia, Hyperphenylalaninemia, He...	ORPHA:79254
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemi...	OMIM:278000
Argininemia	Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Hyperammonemia, ...	OMIM:207800
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Abnormal blood phosphate concentration, Paresthesia, Hypocalcemia	OMIM:615361
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Hepatic steatosis, V...	ORPHA:101330
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Inability to walk, Sacral hypertrichosis, High nonceruloplasmin-bound seru...	ORPHA:457351
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Primary amenorrhea, Hyperuricemia,...	OMIM:604367
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ...	OMIM:232700
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Syndromic Diarrhea	Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational age, Hepatoblastoma, ...	ORPHA:84064
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbil...	OMIM:211600
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Hypopigmentation of hair, Ataxia, Obesity, Hypopigmentation of the skin, Iris h...	ORPHA:411515
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi...	ORPHA:276435
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ...	ORPHA:446
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks, Eosinophilia	OMIM:614323
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Spinocerebellar Ataxia 23	Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ...	OMIM:610245
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Growth delay, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomo...	OMIM:612716
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrhosis	ORPHA:79278
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig...	ORPHA:69125
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Migraine, Familial Hemiplegic, 1	Tremor, Hemiplegia, Ataxia, Hemiparesis	OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Dista...	OMIM:618387
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Growth de...	OMIM:216360
Urocanic Aciduria	Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax...	ORPHA:210128
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Thumb Deformity And Alopecia	Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Pancreatitis, Secondary amenorrhe...	ORPHA:79083
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin...	OMIM:277580
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Infantile Sialic Acid Storage Disease	Hepatomegaly, Fair hair, Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive, Hypopigm...	OMIM:269920
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop...	ORPHA:2885
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ...	OMIM:604326
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Abnormal eyebrow morphology, Short stature, Decreased fertility, Delayed puberty, Generalized hyp...	ORPHA:1816
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	ORPHA:264580
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o...	ORPHA:231222
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism	OMIM:619647
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Dominant Beta-Thalassemia	Failure to thrive in infancy, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, He...	ORPHA:231226
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia...	OMIM:213200
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Hepatocellular...	OMIM:256810
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper co...	OMIM:620306
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait...	ORPHA:216873
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neut...	OMIM:615387
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cac...	ORPHA:298
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Rigidity, Splenomegaly, Tremor, Dystonia, Loss of ambulation, Intrauterine growth r...	OMIM:615010
Generalized Eruptive Histiocytosis	Spotty hyperpigmentation, Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Short stature, Ataxia, Tremor, Splenomegaly, Paronychia, Decreased serum zinc, Alop...	OMIM:201100
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	ORPHA:79240
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Transaldolase Deficiency	Increased serum bile acid concentration, Abnormal circulating glutamine concentration, Cirrhosis,...	ORPHA:101028
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Saccharopinuria	Short stature, Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Distal sen...	ORPHA:3124
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Citrullinemia, Classic	Hepatomegaly, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis...	OMIM:215700
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Severe short stature, Hypopigmented skin patches, Ridged fingernail, Fingernail dysplas...	ORPHA:2251
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Menkes Disease	Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Short stature, Babinsk...	OMIM:309400
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Hyperhidrosis, Dysdiadochokinesi...	OMIM:618049
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci...	OMIM:617916
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Trun...	OMIM:610185
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Intrauterine growth retardation, Ataxia, Limb dystonia	OMIM:620270
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Immunodeficiency 88	Eosinophilia	OMIM:619630
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram...	ORPHA:397946
Ataxia-Telangiectasia	Elevated hepatic transaminase, Hypopigmentation of hair, Failure to thrive, Short stature, Ataxia...	ORPHA:100
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevated hepatic...	ORPHA:254704
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Spotty hypopigmentation, Hy...	ORPHA:79399
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Beta-Thalassemia Major	Hepatomegaly, Failure to thrive in infancy, Hepatocellular carcinoma, Hypersplenism, Splenomegaly...	ORPHA:231214
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Premature graying of hair, Bone marrow hypocellularity, Cirrhosis,...	OMIM:614742
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired proprioception,...	ORPHA:14
Griscelli Syndrome Type 2	Hepatomegaly, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipidemia, Jaundice,...	ORPHA:79477
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:601859
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia	OMIM:261630
Griscelli Syndrome	Abnormal eyebrow morphology, Hepatomegaly, Short stature, Ataxia, Abnormal eyelash morphology, Si...	ORPHA:381
Transaldolase Deficiency	Hepatomegaly, Small for gestational age, Splenomegaly, Synophrys, Micronodular cirrhosis, Hepatos...	OMIM:606003
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	OMIM:617049
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduced haptoglobin level	OMIM:612126
Aceruloplasminemia	Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Chorea, ...	OMIM:604290
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Tremor, Congenital hepa...	ORPHA:1454
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Short stature, Ataxi...	ORPHA:98907
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park...	OMIM:617013
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Elevated transferrin saturation	OMIM:205950
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Spasticity, Ataxia, Tremor	OMIM:278780
Porphyria Variegata	Hyponatremia, Elevated hepatic transaminase, Somatic sensory dysfunction, Abnormal circulating po...	ORPHA:79473
Dyskeratosis Congenita, Autosomal Recessive 2	Reticulated skin pigmentation, Growth delay, Nail dystrophy, Cirrhosis, Testicular atrophy	OMIM:613987
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Lipodystrophy, Familial Partial, Type 6	Hepatic steatosis, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal ...	OMIM:615980
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho...	ORPHA:254881
Acute Transverse Myelitis	Impaired vibratory sensation, Somatic sensory dysfunction, Decreased circulating copper concentra...	ORPHA:139417
Interstitial Lung Disease 2	Cirrhosis	OMIM:178500
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Short stature, Ataxia	ORPHA:1368
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:614576
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Growth delay, Intrauterine g...	OMIM:618541
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Roifman Syndrome	Eosinophilia, Hyperconvex nail, Prominent eyelashes, Hepatosplenomegaly, Hippocampal atrophy	ORPHA:353298
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hepatic failure, Failure to thrive	OMIM:602579
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi...	ORPHA:284324
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Short stature	ORPHA:1355
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbumin...	ORPHA:367
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells...	ORPHA:169154
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Spinocerebellar Ataxia, Autosomal Recessive 13	Short stature, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia...	OMIM:614831
Developmental Delay And Seizures With Or Without Movement Abnormalities	Short stature, Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop...	OMIM:215600
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjuga...	ORPHA:30391
Omenn Syndrome	Hepatomegaly, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Anemia, Abnormal lymphocyte mor...	ORPHA:39041
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens...	OMIM:600363
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:617093
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Impaired di...	OMIM:208920
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin, Short stature	OMIM:610798
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myocl...	ORPHA:2590
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level	OMIM:618092
Roifman Syndrome	Splenomegaly, Hepatomegaly, Prominent eyelashes, Eosinophilia	OMIM:616651
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, H...	OMIM:603554
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101075
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Nail pits, Premature ...	OMIM:127550
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Decre...	OMIM:614867
Hsd10 Disease	Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclo...	ORPHA:391417
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Intrauterine growth retardation, Failure to thrive, Hypopigmentation of the skin, Ap...	ORPHA:261304
Peeling Skin Syndrome 1	Eosinophilia, Brittle hair, Onycholysis, Nail dystrophy	OMIM:270300
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Adams-Oliver Syndrome	Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Hemipar...	ORPHA:974
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus	OMIM:619028
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo...	OMIM:606159
Maternal Uniparental Disomy Of Chromosome X	Short stature, Low posterior hairline, Azoospermia, Hepatic failure, Hypopigmentation of the skin	ORPHA:261519
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome...	OMIM:607115
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Failure to thrive, Myoclonus, Dystonia	OMIM:619651
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Generalized hyperpigmentation, Hypertriglyceridemia, Cirrhosis,...	ORPHA:79086
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Phenylketonuria	Maternal hyperphenylalaninemia, Blue irides, Hyperphenylalaninemia, Generalized hypopigmentation,...	OMIM:261600
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest, Ataxia	OMIM:172850
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Absce...	ORPHA:400
Mednik Syndrome	Cholestasis, Growth delay, Hepatic fibrosis, Increased circulating very long-chain fatty acid con...	OMIM:609313
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:603909
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen...	ORPHA:79133
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101078
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,...	ORPHA:186
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Coombs-positive...	OMIM:304790
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Glycogen Storage Disease Iv	Hepatic failure, Cirrhosis, Portal hypertension, Hepatosplenomegaly	OMIM:232500
4H Leukodystrophy	Dystonia, Short stature, Abnormality of thyroid physiology, Decreased response to growth hormone ...	ORPHA:289494
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Tyrosinemia, Type I	Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Elevated ci...	OMIM:276700
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Dystonia,...	OMIM:619738
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Hepatic cysts, Hepatosplenomegaly	OMIM:618999
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Extremely elevated creatine kinase, Ataxia, Elevated...	OMIM:615673
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Short stature, Poliosis, Abnormal eyelash morphol...	ORPHA:3437
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Gait imbalance, Hypopigmentation of ...	ORPHA:411511
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles	OMIM:601706
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula...	OMIM:619418
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit...	ORPHA:90117
Myopathy, Mitochondrial, And Ataxia	Short stature, Thick hair, Elevated circulating creatine kinase concentration, Ataxia, Tremor, In...	OMIM:617675
Intellectual Developmental Disorder, X-Linked 104	Tremor, Spasticity, Frontal upsweep of hair, Ataxia	OMIM:300983
Angelman Syndrome	Broad-based gait, Ataxia, Blue irides, Limb tremor, Obesity, Clumsiness, Progressive gait ataxia,...	OMIM:105830
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm...	ORPHA:2884
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis, Tremor	ORPHA:66633
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he...	OMIM:617156
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Broad-based gait, Ataxia, Tremor, Obesity, Myoclonus, Gait imbalance, H...	ORPHA:98794
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Ataxia, Hypokalemia, Hyp...	ORPHA:699
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic ga...	OMIM:616795
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Abnormality of iron homeost...	ORPHA:848
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Generalized dystonia, Ataxia, Inability to walk, Chorea, Decreased live...	ORPHA:70472
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Short stature, Tremor, Growth delay, Decreased serum creatinine, Intrauterine ...	OMIM:617744
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl...	ORPHA:79263
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bra...	OMIM:261640
Waardenburg Syndrome, Type 3	Partial albinism, Synophrys, Spastic paraplegia, Blue irides, Hypopigmented skin patches, Prematu...	OMIM:148820
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev...	OMIM:615486
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Short stature, Hyp...	ORPHA:1775
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, Hypertonia, Cirrhosis, Spasticity, Failure to thr...	OMIM:616539
Wrinkly Skin Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Slurred speech, Progressive cerebell...	ORPHA:2834
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon...	ORPHA:3095
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia, Delayed menarche	ORPHA:330050
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Pontocerebellar Hypoplasia, Type 7	Ataxia, Cryptorchidism, Synophrys, Spastic paraplegia, Opisthotonus, Choreoathetosis, Hypertonia,...	OMIM:614969
X-Linked Agammaglobulinemia	Alopecia, Short stature, Hypopigmented skin patches, Hepatitis, Weight loss, Hypocalcemia, Failur...	ORPHA:47
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Inability to walk, Waddling gait	OMIM:616269
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Short stature, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxi...	ORPHA:1170
Immunodeficiency 56	Hepatic failure, Cholangitis, Cirrhosis, Chronic hepatitis due to cryptosporidium infection	OMIM:615207
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ...	ORPHA:300298
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho...	ORPHA:169160
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Hyperhidrosis, Growth delay, Bradykinesia, D...	ORPHA:70594
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Impaired v...	ORPHA:137898
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, ...	OMIM:602450
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Brittle hair, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hypo...	OMIM:236200
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess	OMIM:147060
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Myoclonus, Dif...	OMIM:159950
Kimura Disease	Eosinophilia	ORPHA:482
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Leukodystrophy, Hypomyelinating, 6	Short stature, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Chédiak-Higashi Syndrome	Tremor, Large clumps of pigment irregularly distributed along hair shaft, Hypopigmentation of the...	ORPHA:167
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Behr Syndrome	Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity...	OMIM:210000
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Short stature, Postural tremor, Tremor, Babinski sign, Dysmetria, Delayed puber...	OMIM:607694
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Short stature, Ataxia, Postural tremor, Splenomegaly, Micronodular cirrhosis, Babin...	OMIM:301072
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Sterile abscess, Eosinophilia, Cutaneous abscess	OMIM:618282
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Lower limb spasticity, Large for gestational age, Microvesicular hepatic steatosis,...	OMIM:300868
Bloom Syndrome	Hepatic steatosis, Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in fem...	OMIM:210900
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Al-Raqad Syndrome	Inability to walk, Hypopigmentation of the skin, Gait ataxia	OMIM:616459
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead...	OMIM:609270
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Elevated circulating creatine kinase concentration, Elevated...	ORPHA:64753
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair...	OMIM:302800
Obesity And Hypopigmentation	Red hair, Hepatic steatosis, Obesity	OMIM:620195
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ...	ORPHA:77293
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Zinc Deficiency, Transient Neonatal	Decreased serum zinc, Alopecia	OMIM:608118
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,...	ORPHA:470
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Albinism-Deafness Syndrome	Patchy hypo- and hyperpigmentation, Piebaldism, Partial albinism, Albinism	OMIM:300700
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Gr...	OMIM:304150
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Ankle clonus, Sclerosing cholangitis, C...	OMIM:308230
Chediak-Higashi Syndrome	Hepatomegaly, Hypopigmentation of hair, Ataxia, Tremor, Splenomegaly, Jaundice, Silver-gray hair,...	OMIM:214500
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns...	OMIM:183090
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance	ORPHA:99014
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Hepatic steatosis, Small for gestational age, Short stature, Porta...	OMIM:613658
Netherton Syndrome	Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia	OMIM:256500
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Incontinentia Pigmenti	Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Ab...	OMIM:308300
Reynolds Syndrome	Hepatomegaly, Jaundice, Xerostomia, Cirrhosis	ORPHA:779
Senior-Boichis Syndrome	Elevated hepatic transaminase, Diffuse cerebral atrophy, Malformation of the hepatic ductal plate...	ORPHA:84081
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia	ORPHA:306669
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo...	OMIM:618877
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ...	OMIM:233910
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Splenomegaly, Hypopigmented skin patches, Irregular hyperpigmentation, Ab...	ORPHA:2584
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic...	ORPHA:209335
Slc35A2-Cdg	Elevated hepatic transaminase, Increased circulating thyroglobulin level, Failure to thrive in in...	ORPHA:356961
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Short stature, Macronodular cirrhosis	OMIM:215250
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Neutropenia...	ORPHA:293173
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype...	ORPHA:404454
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Sialidosis Type 2	Hepatomegaly, Short stature, Ataxia, Tremor, Splenomegaly	ORPHA:87876
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
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Decreased serum iron, Overweight, Oromotor apraxia, Frontal upsweep of hair, Spasticity, Failure ...	ORPHA:391372
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplas...	ORPHA:171
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial n...	ORPHA:57777
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic hepatitis, Cirrhosis...	OMIM:269200
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation...	OMIM:300623
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas...	OMIM:612953
Oculocutaneous Albinism Type 1	White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme...	ORPHA:352731
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Hepatic fibrosis, Cirrhosis	OMIM:601539
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Growth delay, Decreased serum zin...	ORPHA:541423
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased serum iron, Elevated hepatic iron concentration	OMIM:206100
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Thyroiditis, Hepatitis, H...	ORPHA:228426
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru...	OMIM:229600
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin	ORPHA:90342
Gaucher Disease Type 1	Hepatomegaly, Hypersplenism, Splenomegaly, Growth delay, Cirrhosis, Delayed puberty, Biliary trac...	ORPHA:77259
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Short stature, Cryptorchidism, Spotty hypopigmentatio...	ORPHA:1867
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Spastic Paraplegia 9B, Autosomal Recessive	Short stature, Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Te...	OMIM:616586
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot...	ORPHA:228360
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, Gait imbalance, Hypopigmentation of the skin, Iris hy...	ORPHA:98795
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He...	ORPHA:199299
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Short stature, Growth delay, Hypophosphatemic rickets, Hypopigmentation of the skin	OMIM:163200
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr...	ORPHA:766
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente...	ORPHA:284
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance, Hyperhidrosis	ORPHA:29822
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance	OMIM:603472
Prader-Willi Syndrome	Hypopigmentation of hair, Short stature, Iris hypopigmentation, Hypogonadotropic hypogonadism, Im...	OMIM:176270
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
O'Sullivan-Mcleod Syndrome	Atrophy of the spinal cord, Eosinophilia	ORPHA:99965
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Short stature, Ataxia, Reticulated skin pigm...	OMIM:305000
Aspergillosis	Eosinophilia, Hepatitis, Neutropenia	ORPHA:1163
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Hepatomegaly	OMIM:601979
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Dystonia, Short stature, Elevated ci...	OMIM:615356
Angelman Syndrome	Broad-based gait, Ataxia, Tremor, Inability to walk, Obesity, Myoclonus, Delayed menarche, Fair h...	ORPHA:72
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,...	OMIM:617435
Gaucher Disease	Hepatomegaly, Short stature, Ataxia, Elevated circulating C-reactive protein concentration, Tremo...	ORPHA:355
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Short stature, Ataxia, Premature graying of hai...	ORPHA:3322
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Ataxia, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Intrauterine gro...	OMIM:616353
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Abnormal hair morph...	ORPHA:464
Ddost-Cdg	Elevated hepatic transaminase, Short stature, Tremor, Oromotor apraxia, Primary hypothyroidism, H...	ORPHA:300536
Alg3-Cdg	Spastic tetraparesis, Hypertonia, Decreased liver function, Dystonia, Hypopigmentation of the skin	ORPHA:79321
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment...	ORPHA:158681
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia...	OMIM:312170
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Hypopigmented skin patches,...	ORPHA:1807
Cranioectodermal Dysplasia 3	Short stature, Short nail, Rhizomelia, Broad nail, Fine hair, Cirrhosis, Sparse hair	OMIM:614099
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Hypopigmentation of hair, Male infertility, Failure to thrive in infa...	OMIM:219800
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Short stature, Parkinsonism, Tremor, Obe...	ORPHA:3077
Ataxia-Telangiectasia	Failure to thrive, Dystonia, Short stature, Ataxia, Elevated circulating alpha-fetoprotein concen...	OMIM:208900
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking	ORPHA:477673
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Fasciculations, ...	OMIM:313200
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Slc39A8-Cdg	Abnormal blood zinc concentration, Failure to thrive in infancy, Short stature, Inability to walk...	ORPHA:468699
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hyperpigmentation in sun-exposed areas, Reticulated skin pigmentation, ...	ORPHA:69087
Sea-Blue Histiocytosis	Splenomegaly, Hepatomegaly, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:158029
Localized Epidermolysis Bullosa Simplex	Paresthesia, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79400
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Growth delay, Dys...	OMIM:614381
Mucoepithelial Dysplasia, Hereditary	Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia...	OMIM:158310
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Wells Syndrome	Eosinophilia	ORPHA:901
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Xeroderma Pigmentosum, Complementation Group F	Short stature, Ataxia, Tremor, Numerous pigmented freckles, Decreased body weight, Freckling	OMIM:278760
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated hepatic transaminase, Micronodular cirrhosis, Hemiparesis, Apraxia	OMIM:192315
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Periodic paralysis, Weight loss	OMIM:613239
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Ataxia, Paralysis, Microvesic...	OMIM:203700
Autosomal Dominant Hyper-Ige Syndrome	Abnormal hair morphology, Paronychia, Dystrophic fingernails, Eosinophilia	ORPHA:2314
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Ataxia, White hair, Ocular albinism, Hypertonia, Generalized hypopigmentation, Iri...	ORPHA:2720
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Hypertonia, Gait disturbance, Multiple cafe...	ORPHA:3214
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Short stature, Hypopigmented skin patches, Delayed puberty	ORPHA:1825
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Growth delay, Choreoathetosis, Gait dist...	ORPHA:765
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Loss of eyelashes,...	OMIM:263700
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Short stature, Thick hair, Tremor, Dysmetria, Primary amenorrhea, Gr...	ORPHA:502423
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Ste...	OMIM:616505
Non-Specific Early-Onset Epileptic Encephalopathy	Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unst...	ORPHA:442835
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity	ORPHA:542310
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Short stature, Writer's cramp, Ataxia, Tremor, Head titub...	OMIM:312080
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Lymphocytosis	ORPHA:139402
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Impaired temperature sensation, Cryptorc...	ORPHA:398079
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Oculopharyngodistal Myopathy 3	Tremor, Pigmentary retinopathy, Ataxia, Elevated circulating creatine kinase concentration	OMIM:619473
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent...	OMIM:608799
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Tremor...	OMIM:617988
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase...	ORPHA:79095
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Alopecia, Pre...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Alopecia, Pre...	ORPHA:99228
Monosomy X	Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Alopecia, Pre...	ORPHA:99226
Turner Syndrome	Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Alopecia, Pre...	ORPHA:881
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Mild postnatal growth retardation, Ataxia, Aplasia/Hypoplasia of the pancreas, Abno...	ORPHA:456312
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:2902
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Squalene Synthase Deficiency	Failure to thrive in infancy, Increased circulating farnesol concentration, Bilateral cryptorchid...	OMIM:618156
Cystathioninuria	Cystathioninemia, Tremor	ORPHA:212
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Anonychia	OMIM:106750
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased ...	OMIM:608594
Rothmund-Thomson Syndrome	Calcinosis, Sparse eyelashes, Alopecia totalis, Small for gestational age, Short stature, Sparse ...	ORPHA:2909
Arima Syndrome	Hepatomegaly, Ataxia, Growth delay, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	OMIM:243910
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Small for gestational age...	ORPHA:98754
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Hepatitis, Onycholysis	ORPHA:525
Rothmund-Thomson Syndrome Type 1	Calcinosis, Premature ovarian insufficiency, Small for gestational age, Alopecia totalis, Short s...	ORPHA:221008
Tonne-Kalscheuer Syndrome	Broad-based gait, Short stature, Concave nail, Tremor, Cryptorchidism, Blue irides, Fine hair, Gr...	OMIM:300978
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus	OMIM:619092
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts	OMIM:617425
Ermine Phenotype	Hypopigmentation of hair, Short stature, Ocular albinism, Hypopigmented skin patches, Irregular h...	ORPHA:999
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Reticulocytosis, Autoimmune hemolytic anemia, Increased B cell count, Eosinophilia,...	ORPHA:3261
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ...	ORPHA:79396
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Small for gestational age...	ORPHA:98793
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Short stature, Small for gestational age, Tremor, Cryptorchidism, Trun...	OMIM:300957
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Small for gestational age...	ORPHA:177904
Attenuated Chédiak-Higashi Syndrome	Incoordination, Ocular albinism, Hypertonia, Abnormality of extrapyramidal motor function, Genera...	ORPHA:352723
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Small for gestational age...	ORPHA:177901
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Abnormal fingernail morphology, Cerebral cortical atrophy	ORPHA:1164
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors...	OMIM:128100
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T...	OMIM:614298
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Growth delay, Decreased circulating carnitine concentration, Decreased seru...	ORPHA:89842
Galloway-Mowat Syndrome 1	Small for gestational age, Short stature, Ataxia, Spastic tetraplegia, Hypoalbuminemia, Small nai...	OMIM:251300
Eosinophilic Granulomatosis With Polyangiitis	Central nervous system degeneration, Eosinophilia, Hypopigmented skin patches	ORPHA:183
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit...	ORPHA:897
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Alopecia, Short stature, Ataxia, Postnatal growth retardation, Wei...	OMIM:212750
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Short stature, Impaired temperature sensation, Cryptorchidism, Increase...	ORPHA:398069
Typhoid	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia	ORPHA:99745
Deafness-Vitiligo-Achalasia Syndrome	Severe short stature, Hypopigmented skin patches	ORPHA:3239
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Pancreatic islet-cell hyperplasia, Hyperhidrosis	ORPHA:276608
Igg4-Related Aortitis	Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:449400
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity	ORPHA:529665
Alagille Syndrome 1	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Hepatic failure, C...	OMIM:118450
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia	OMIM:615816
Acrodysostosis 2 With Or Without Hormone Resistance	Cryptorchidism, Blue irides, Obesity, Red hair, Mild short stature, Fair hair, Intrauterine growt...	OMIM:614613
Proximal 16P11.2 Microduplication Syndrome	Short stature, Sparse eyelashes, Sparse eyebrow, Tremor, Failure to thrive, Decreased body mass i...	ORPHA:370079
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Sézary Syndrome	Hepatomegaly, Alopecia, Tremor, Splenomegaly, Nail dystrophy, Irregular hyperpigmentation	ORPHA:3162
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Ataxia, Splenomegaly, Abnorm...	ORPHA:163746
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Short stature, Increased serum iron, Increased total iron binding ...	ORPHA:98870
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Polyendocrine-Polyneuropathy Syndrome	Short stature, Elevated hemoglobin A1c, Ataxia, Postnatal growth retardation, Central hypothyroid...	OMIM:616113
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, Intrauterine gro...	OMIM:617710
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Hypercalcemia, Weight loss	ORPHA:94080
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Synophrys, Abnormality of skin pigmentation, Hypertonia, Hepatic steatosis, Hypopigmentat...	OMIM:619475
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Ocular albinism, Melanocytic nevus,...	ORPHA:79430
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Leukocytosi...	ORPHA:3260
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Bloom Syndrome	Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Small for gestational age, P...	ORPHA:125
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu...	OMIM:611584
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	ORPHA:79303
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, White eyelashes, White eyebrow, Ataxia, Portal hypertension, Cryptorchidism, Hypopig...	OMIM:609136
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism	ORPHA:2221
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Fail...	ORPHA:556037
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Rothmund-Thomson Syndrome Type 2	Calcinosis, Small for gestational age, Alopecia totalis, Short stature, Cryptorchidism, Growth de...	ORPHA:221016
Prader-Willi Syndrome	Hypopigmentation of hair, Short stature, Impaired temperature sensation, Cryptorchidism, Primary ...	ORPHA:739
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Ataxia, Tremor, Opisthotonus, Growth delay, Choreoathetosis, Hyperkinetic movements, ...	OMIM:616271
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Fail...	ORPHA:556030
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia,...	ORPHA:508533
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Short stature, Splenomegaly, Cryptorchidism, Growth delay, Cholestatic liver diseas...	OMIM:270400
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Brittle hair, Increased serum beta-hexosaminidase, Sparse eyebrow, Splenomegaly, Gr...	OMIM:252500
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Intrauterine growth retardation, Dysmetria	OMIM:615578
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Cholestasis, Obesity, Hyperbilirubinemia	OMIM:609734
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Large for gestational age, Cryptorchidism, Hypopigmented skin patches, Gait disturban...	ORPHA:457485
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Increased serum beta-hexosaminidase, Trem...	ORPHA:845
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Increased body weight, Low posterior hai...	OMIM:300860
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hepatomegaly, A...	ORPHA:3008
Hartnup Disease	Irregular hyperpigmentation, Short stature, Hypopigmented skin patches, Ataxia	ORPHA:2116
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Macronodula...	OMIM:620005
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure	ORPHA:774
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Lower limb spasticity, Ataxia, Hypermelanotic macule...	ORPHA:90321
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Tooth...	ORPHA:2686
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration	OMIM:619790
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Short stature, Ataxia, Postnatal growth retardation, Tremor, Abnormal pyramidal sign, Fine hair, ...	OMIM:612199
Epidermal Nevus Syndrome	Progressive spastic paraparesis, Babinski sign, Hypertonia, Hypopigmentation of the skin, Hyperpi...	ORPHA:35125
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypogonadism, Hypopigmented skin patches	ORPHA:3143
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur...	OMIM:613266
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb...	OMIM:208085
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, D...	ORPHA:90363
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Neonatal death, Intrahepatic bi...	OMIM:619534
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Cystic Fibrosis	Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Failure to thri...	OMIM:219700
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168605
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Paresthesia, Hypopigmented skin patches	ORPHA:2875
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre...	ORPHA:3440
12Q14 Microdeletion Syndrome	Short stature, Hyperpigmentation of the skin, Tremor, Abnormality of the spleen, Synophrys, Intra...	ORPHA:94063
Infantile Krabbe Disease	Lower limb spasticity, Cachexia, Hypopigmented skin patches, Spastic diplegia, Opisthotonus, Ankl...	ORPHA:206436
Vici Syndrome	Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Postnatal...	OMIM:242840
Kallmann Syndrome	Decreased testicular size, Dyspareunia, Ataxia, Hypogonadotropic hypogonadism, Tremor, Cryptorchi...	ORPHA:478
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Generalized hypopigmentation, Short stature, Iris transillumination defect, Decreased body weight	OMIM:617306
Gapo Syndrome	Alopecia, Sparse eyelashes, Short stature, Dysmenorrhea, Sparse eyebrow, Early balding, Hypopigme...	ORPHA:2067
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Small for gestational age, Tremor, Cryptorchidism, Hyperammonemia, Growth delay, Intentio...	OMIM:614052
Metachromatic Leukodystrophy	Incoordination, Ataxia, Dystonia, Tremor, Abnormal gallbladder morphology, Hemobilia, Tip-toe gai...	ORPHA:512
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Short stature, Hypopigmented skin patches, Spastic diplegia,...	ORPHA:2715
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Hermansky-Pudlak Syndrome 8	Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Menorrha...	OMIM:614077
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Short stature, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Generalized hypopi...	OMIM:619321
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Albinism	OMIM:614075
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,...	ORPHA:626
Degcags Syndrome	Synophrys, Low anterior hairline, Vocal cord paralysis, Abnormality of skin pigmentation, Prematu...	OMIM:619488
Hyperlysinemia	Failure to thrive, Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis,...	ORPHA:2203
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Sarcoidosis	Hepatomegaly, Alopecia, Hemolytic anemia, Hypercalcemia, Portal hypertension, Eosinophilia, Throm...	ORPHA:797
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Tremor, Abnormality of the pancreas, Jaundice, Cholecystitis, Hype...	ORPHA:69665
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168600
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Xerostomia, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s...	OMIM:105210
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Tremor, Splenomegaly, Thyrotoxicosis with diffuse go...	ORPHA:525731
Vici Syndrome	Hypopigmentation of the skin, Short stature, Abnormality of retinal pigmentation	ORPHA:1493
Ruvalcaba Syndrome	Cryptorchidism, Hypopigmented skin patches, Delayed puberty, Intrauterine growth retardation, Gen...	ORPHA:3121
Cryptococcosis	Peritonitis, Lymphoid leukemia, Cerebral cortical atrophy, Cirrhosis	ORPHA:1546
Coccidioidomycosis	Abscess, Eosinophilia, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Granulom...	ORPHA:228123
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches	ORPHA:220402
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Tremor, Cryptorchidism, Jaundice, Hypertonia, Hypoproteinemia	OMIM:608093
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Postna...	OMIM:227810
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Loss of ambulation...	OMIM:607426
Hepatoerythropoietic Porphyria	Scarring alopecia of scalp, Abnormal circulating porphyrin concentration, Loss of eyelashes, Sple...	ORPHA:95159
Papillon-Lefèvre Syndrome	Liver abscess, Abnormal fingernail morphology, Hypopigmented skin patches, Nail dystrophy, Abnorm...	ORPHA:678
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia, Hyperbilirubinemia	ORPHA:713
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Obesity, Intrauterine gro...	ORPHA:177907
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic h...	OMIM:212065
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Short stature, Ataxia, Cryptorchidism, Ocular albinism, Abnormal pyrami...	ORPHA:2719
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Multiple System Atrophy 1, Susceptibility To	Anhidrosis, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Hypohidrosis, Bradykinesia	OMIM:146500
Xeroderma Pigmentosum	Alopecia, Short stature, Hypermelanotic macule, Ataxia, Cryptorchidism, Hypopigmented skin patche...	ORPHA:910
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Hepatomegaly, Albinism, Splenomegaly, Ocular albinism, Hepatosple...	OMIM:608233
Igg4-Related Pachymeningitis	Eosinophilia, Pancreatitis, Elevated circulating C-reactive protein concentration	ORPHA:449427
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim...	OMIM:618056
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Waardenburg Syndrome, Type 1	White eyelashes, White eyebrow, Partial albinism, Synophrys, Blue irides, Premature graying of ha...	OMIM:193500
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia	ORPHA:683
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Weight loss	ORPHA:1332
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, H...	OMIM:610505
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei...	OMIM:619632
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Hemiplegia/hemiparesis, Cryptorchidism, Hypopigmented s...	ORPHA:1647
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Increased circulating guanosine concentration, Ataxia, Tremor, Splenomegaly, Spasti...	OMIM:613179
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Tremor, Synophrys, Gait ataxia, Failure to thrive	ORPHA:476126
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Short stature, Cachexia, Melanocytic nevus, Multiple cafe-au...	ORPHA:1969
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Alström Syndrome	Hypoplasia of the Leydig cells, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Short stature,...	ORPHA:64
Mercury Poisoning	Tremor, Hypokalemia, Dystonia	ORPHA:330021
Dowling-Degos Disease	Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79145
Lichen Planus Pemphigoides	Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Harrod Syndrome	Intrauterine growth retardation, Failure to thrive, Hypopigmented skin patches, Cryptorchidism	ORPHA:2115
Congenital Erythropoietic Porphyria	Scarring alopecia of scalp, Abnormal circulating porphyrin concentration, Loss of eyelashes, Sple...	ORPHA:79277
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Abnormality of the liver, Progressive gait ataxia, Limb ...	ORPHA:646
Acrofrontofacionasal Dysostosis	Short stature, Brushfield spots, Hypopigmented skin patches, Anonychia, Aplasia/Hypoplasia of the...	ORPHA:1784
Liver Disease, Severe Congenital	Dry hair, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypo...	OMIM:619991
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Synophrys, Hypogonadotropic hypogonadism, Hypopigmented skin patches, Aplastic/hypoplastic toenail	ORPHA:1295
Cystic Fibrosis	Elevated hepatic transaminase, Abnormality of the liver, Cirrhosis, Failure to thrive, Decreased ...	ORPHA:586
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadi...	ORPHA:91347
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Synophrys, Obesity, Hepatosplenomegaly, Cholecystitis, Cholelithiasis, Hypopigmenta...	OMIM:301066
Mosaic Trisomy 8	Short stature, Cryptorchidism, Hypopigmented skin patches, Hypopigmentation of the skin, Decrease...	ORPHA:96061
Short Stature With Microcephaly And Distinctive Facies	Sparse scalp hair, Severe short stature, Small for gestational age, Sparse eyebrow, Spotty hypopi...	OMIM:615789
Tyrosinemia Type 2	Tremor, Ataxia, Hyperhidrosis	ORPHA:28378
Igg4-Related Kidney Disease	Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Ab...	ORPHA:449395
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Mixed hypo- and hyperpigmentation of the ski...	ORPHA:79456
Igg4-Related Submandibular Gland Disease	Retroperitoneal fibrosis, Eosinophilia, Abnormal pancreas morphology, Cholangitis	ORPHA:449432
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp	OMIM:618373
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Intellectual Disability And Myopathy Syndrome	Cafe-au-lait spot, Spotty hypopigmentation	OMIM:619719
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Resting tremor, Hyperthyroidism, Ataxia, Elevated circulating crea...	ORPHA:254892
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Serotonin Syndrome	Clonus, Tremor, Rigidity, Hyperhidrosis, Hypertonia, Myoclonus, Hepatic failure	ORPHA:43116
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Alopecia, Slender build, Small for gestational age, Testicular neoplasm, Postnata...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Alopecia, Slender build, Small for gestational age, Testicular neoplasm, Postnata...	ORPHA:363958
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis, Hypercalcemia, Weight loss	ORPHA:276621
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Sparse scalp hair, Hypercholesterolemia, Hypoammonemia, Short stature, Clonus, Cryp...	ORPHA:534
Crouzon Syndrome	Hypopigmented skin patches, Melanocytic nevus	ORPHA:207
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tremor, Hepatomegaly, Elevated circulating creatine kinase concentration, Clonus	OMIM:619424
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Elevated circulati...	ORPHA:94093
Pitt-Hopkins Syndrome	Ataxia, Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, Hypopigmented skin pa...	ORPHA:2896
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Retroperitoneal...	ORPHA:449563
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Disproportionate short stature, Hypopigmented skin patches, Fine hair, Truncal obesity, Multiple ...	ORPHA:2637
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ...	ORPHA:447753
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:3453
Acute Radiation Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Triosephosphate Isomerase Deficiency	Dystonia, Tremor, Splenomegaly, Jaundice, Unsteady gait, Cholecystitis, Prolonged neonatal jaundi...	OMIM:615512
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Tremor, Hyperammonemia, Hyperglycinemia, Failure to thrive	OMIM:251100
Cockayne Syndrome A	Hepatomegaly, Dry hair, Short stature, Ataxia, Tremor, Splenomegaly, Retinal pigment epithelial m...	OMIM:216400
Diaphanospondylodysostosis	Intrauterine growth retardation, Hypoplastic fingernail, Abnormal liver lobulation, Disproportion...	OMIM:608022
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormality of hair texture, Tremor, Splenomegaly, Growth delay, Hypocalcemia, Hypo...	ORPHA:667
Atypical Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Hepatic steatosis, Alopecia, Premature ovarian in...	ORPHA:79474
Cockayne Syndrome B	Hepatomegaly, Dry hair, Severe short stature, Ataxia, Small for gestational age, Abnormal hair mo...	OMIM:133540
Xeroderma Pigmentosum, Complementation Group C	Freckling, Hypopigmentation of the skin	OMIM:278720
Lymphatic Filariasis	Hypereosinophilia, Hyperpigmentation of the skin	ORPHA:2035
Acute Intermittent Porphyria	Hyponatremia, Somatic sensory dysfunction, Tremor, Pseudobulbar paralysis, Respiratory paralysis,...	ORPHA:79276
Curry-Jones Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:1553
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short...	ORPHA:636
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Jaundice, Elevated circulating creatinine concentration, Prolonged neonatal jaundice, Inc...	OMIM:274150
Eec Syndrome	Slow-growing hair, Short stature, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrop...	ORPHA:1896
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Sparse scalp hair, Postnatal growth retardation, Disproportionate short stature, Areas of hypopig...	OMIM:210720
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse ...	OMIM:604292
Localized Scleroderma	Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Hyperpigmentation o...	ORPHA:90289
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin	OMIM:620237
Mosaic Trisomy 9	Asplenia, Cryptorchidism, Abnormal liver lobulation, Small nail, Intrauterine growth retardation	ORPHA:99776
Mismatch Repair Cancer Syndrome 1	Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin	OMIM:276300
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse ...	OMIM:129900
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Short stature, Supernumerary nipple, Cryptor...	OMIM:305600
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Hemifacial spasm, Elevated cir...	ORPHA:466677
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga...	OMIM:601104
Sotos Syndrome	Hypercalcemia, Tremor, Sparse anterior scalp hair, Cryptorchidism, Poor coordination, Decreased f...	ORPHA:821
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased serum iron	OMIM:616959
Mend Syndrome	Short stature, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Spotty h...	ORPHA:401973
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Tropical Endomyocardial Fibrosis	Splenomegaly, Hepatomegaly, Hypoalbuminemia, Eosinophilia	ORPHA:75565
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Hypopigmented skin patches, Low posterior...	ORPHA:233
Fanconi Anemia	Short stature, Cryptorchidism, Hypopigmented skin patches, Weight loss, Abnormality of skin pigme...	ORPHA:84
X-Linked Intellectual Disability, Snyder Type	Short stature, Involuntary movements, Sparse eyebrow, Inability to walk, Synophrys, Patchy hypo- ...	ORPHA:3063
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Neonatal hyperbilirubinemia, Abnormal hair whorl, Synophrys, Patchy hypo- ...	ORPHA:163956
African Trypanosomiasis	Tremor, Impaired proprioception, Choreoathetosis, Hepatomegaly, Alopecia, Abnormal central motor ...	ORPHA:3385
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Small for gestational age, Ataxia, Highly arched eyebrow, Tremor, Microvesicular hepati...	OMIM:220111
Spondyloenchondrodysplasia With Immune Dysregulation	Short stature, Hypermelanotic macule, Spastic diplegia, Hypopigmented skin patches on arms, Progr...	OMIM:607944
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Jaundice, Growth delay, Hypertonia, Dystonia, Neonatal death, Failure to thrive	OMIM:617248
Telangiectasia, Hereditary Hemorrhagic, Type 2	Brain abscess, Nail bed telangiectasia, Cirrhosis, Hepatic arteriovenous malformation, Polycythem...	OMIM:600376
Menkes Disease	Hypopigmentation of hair, Chorea, Hypertonia, Prolonged neonatal jaundice, Sparse hair, Woolly ha...	ORPHA:565
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Hypopigmented skin patches	ORPHA:53715
22Q11.2 Deletion Syndrome	Short stature, Splenomegaly, Cryptorchidism, Hypopigmented skin patches, Obesity, Hypocalcemia, C...	ORPHA:567
Hereditary Acrokeratotic Poikiloderma	Short stature, Hypopigmented skin patches, Nail dystrophy, Irregular hyperpigmentation, Dystrophi...	ORPHA:2907
Cushing Disease	Sparse scalp hair, Leukocytosis, Hirsutism, Decreased eosinophil count, Lymphopenia, Hyperpigment...	ORPHA:96253
Cowden Syndrome	Short stature, Ataxia, Hypopigmented skin patches, Melanocytic nevus, Multiple cafe-au-lait spots...	ORPHA:201
Viss Syndrome	Sparse scalp hair, Alopecia, Hypereosinophilia, Hirsutism	OMIM:619472
Telangiectasia, Hereditary Hemorrhagic, Type 1	Brain abscess, Nail bed telangiectasia, Cirrhosis, Hepatic arteriovenous malformation, Polycythem...	OMIM:187300
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Mosaic Trisomy 20	Intrauterine growth retardation, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin,...	ORPHA:1724
Systemic Sclerosis	Alopecia, Nail bed telangiectasia, Elevated circulating creatine kinase concentration, Spotty hyp...	ORPHA:90291
Brittle Cornea Syndrome	Gait disturbance, Abnormality of hair pigmentation	ORPHA:90354
Chromomycosis	Hypopigmented skin patches	ORPHA:182
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Growth delay, Decreased plasma total carnitine, Decreased serum zinc, Nail dystrophy, Delayed pub...	ORPHA:79408
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Broad-based gait, Short stature, Involuntary movements, Decreased s...	ORPHA:438213
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Failure to thrive, Severe short stature, Abnormal eyelash mo...	ORPHA:2556
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Rhizomelia, Supernumerary nipple, Mesomelic/rhizom...	OMIM:601803
Mend Syndrome	Short stature, Cryptorchidism, Spotty hypopigmentation, Hypertonia, Failure to thrive	OMIM:300960
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Trichiasis, Nail dystrophy, Anonychia, Hypopigmentation of the ski...	ORPHA:95455
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Coarse hair	ORPHA:1974
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Pancreatic adenocarcinoma, Pancreatoblastoma, Leukocytosis, Hirsutism, Decreas...	ORPHA:99889
Tetragametic Chimerism	Cryptorchidism, Abnormal testis morphology, Hypopigmented skin patches	ORPHA:199310
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Jaundice, Impotence, Unconjugated hyperbilirubinemia, Increased blood urea ...	ORPHA:447
Dermatomyositis	Abnormal hair quantity, Abnormal eosinophil morphology, Abnormality of the nail	ORPHA:221
Pmm2-Cdg	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Ataxia, Abnormality of coordination...	ORPHA:79318
Kindler Syndrome	Ridged nail, Spotty hyperpigmentation, Spotty hypopigmentation	OMIM:173650

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 Atp7b

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 Atp7b.

No publications found that use IMPC mice or data for Atp7b.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Atp7b^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us