Gene: Atp7b MGI:103297

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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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign, Elevated ci... OMIM:160120
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Dystonia, Elevated hepatic transaminase, Rigidi... OMIM:613280
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Infertility, Cirrhosis, Lethargy, Azoospermia, Amen... OMIM:602390
Trichohepatoenteric Syndrome 2
Cirrhosis, Sparse hair, Uncombable hair, Hepatomegaly, Decreased serum iron, Hepatitis, Small for... OMIM:614602
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abnormali... OMIM:613313
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Copper Deficiency, Familial Benign
Abnormal circulating copper concentration, Decreased circulating copper concentration, Curly hair... OMIM:121270
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Amenorrhe... OMIM:604250
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration, Clumsiness, Steppage gait, Impaired vibration sensatio... ORPHA:521411
Cog2-Cdg
Decreased circulating copper concentration, Decreased liver function, Spastic tetraplegia, Decrea... ORPHA:435934
Aceruloplasminemia
Increased circulating ferritin concentration, Dystonia, Decreased circulating copper concentratio... ORPHA:48818
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of melanosomes in mela... OMIM:607624
Galactosemia
Dystonia, Abnormality of extrapyramidal motor function, Speech apraxia, Jaundice, Secondary ameno... ORPHA:352
Congenital Bile Acid Synthesis Defect Type 4
Cirrhosis, Tremor, Biliary tract abnormality, Cholestasis, Hepatomegaly ORPHA:79095
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Azoospermia, Elevated hepatic transamina... OMIM:235200
Gemignani Syndrome
Ataxia, Hypopigmented skin patches, Hemiplegia/hemiparesis, Delayed puberty, Short stature, Impai... ORPHA:2074
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Gait ataxia, Tremor, Poor motor coordination, Hepatic steatosis, Abnormal pyramidal si... ORPHA:363400
Neuroectodermal Melanolysosomal Disease
Tremor, Hypopigmentation of hair, Premature graying of hair, Hypertonia, Ataxia, Generalized hype... ORPHA:33445
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait spots, Shor... ORPHA:241
Familial Benign Copper Deficiency
Early balding, Short stature, Decreased circulating copper concentration ORPHA:1551
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Cerebellar Ataxia And Albinism
Head tremor, Albinism, Ataxia OMIM:258300
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Porphyria Cutanea Tarda
Cirrhosis, Onycholysis, Hyperpigmentation in sun-exposed areas, Hepatocellular carcinoma, Facial ... OMIM:176100
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Sea-Blue Histiocyte Disease
Cirrhosis, Absent axillary hair, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Nail dysplasia, Reticulated skin pigmentation, Cerebra... OMIM:613987
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hepatomegaly, Hypertriglyceridem... OMIM:615924
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Gait disturbance, Hyperpigmentation of the skin, Hypopigmented skin patches, Paraplegia, Spasticity ORPHA:2819
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly, Dista... OMIM:616719
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma OMIM:600880
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carc... ORPHA:369
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Dystonia, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Pain insens... OMIM:256810
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Hemochromatosis Type 2
Increased circulating ferritin concentration, Lethargy, Elevated hepatic transaminase, Abnormalit... ORPHA:79230
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Intrahepatic cholestasis, Decreased circulatin... ORPHA:171851
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Generalized bronze hyperpigmentation, Cirrhosis, Le... ORPHA:465508
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Hy... OMIM:617294
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Oculocerebral Syndrome With Hypopigmentation
Growth delay, Silver-gray hair, Athetosis, Hypopigmentation of the skin, Spasticity OMIM:257800
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Thick hair, Hypoplasia of the corpus callosum, Cerebral... OMIM:613489
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Absent toenail, Ridged nail, Hyperpigmentation of the skin, Failure to thrive, Dystrophic toenail... ORPHA:89838
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Hepatic fibrosis, Splenomegaly, Hyperammonemia OMIM:271500
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Cirrhosis, Familial
Micronodular cirrhosis, Jaundice, Lethargy, Increased level of propylene glycol in blood OMIM:215600
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Elejalde Disease
Melanin pigment aggregation in hair shafts, Silver-gray hair, Ataxia, Accumulation of melanosomes... OMIM:256710
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cirrhosis, Growth delay, Cholestasis OMIM:609313
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria, Short stature OMIM:616291
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Tremor, Ataxia OMIM:615945
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Short stature, Hypopigmented skin patches ORPHA:2435
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Transient hyperphenylalaninemia, Dystonia, Gait ataxia, Cogw... OMIM:128230
Cog4-Cdg
Hypercholesterolemia, Cirrhosis, Fatal liver failure in infancy, Elevated hepatic transaminase, T... ORPHA:263501
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Wilson Disease
Cirrhosis, Dystonia, Tremor, Poor motor coordination, Hepatocellular carcinoma, Hepatomegaly, Aty... OMIM:277900
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, Hypertonia, White hair, Ataxia, Partial albinis... ORPHA:79476
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Distal sensory impairment, Elevated circulating creatine kinase conce... OMIM:615048
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Hypertonia, Poor fine motor coordination, Jaundice, Decreased circulating ferritin conc... ORPHA:309854
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Short stature ORPHA:90023
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Cirrhosis, Elevated hepatic transaminase OMIM:613490
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Severe... OMIM:211600
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Growth delay, Cholestasis, Delayed puberty, Failure to thrive, Childhood-onset truncal ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Growth delay, Cholestasis, Delayed puberty, Failure to thrive, Childhood-onset truncal ... ORPHA:71526
Hyperphenylalaninemia, Bh4-Deficient, D
Hyperphenylalaninemia, Transient hyperphenylalaninemia, Hypertonia, Tremor OMIM:264070
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Conjugate... OMIM:616860
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Increased circ... ORPHA:139507
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Hypergonadotropic hypogonadism, Incr... OMIM:230400
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration... ORPHA:90003
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Short stature, Splenomegaly, Intrauterine growth retardation, Hypopigmentation of t... OMIM:618541
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Sparse hair, Ataxia, Alopecia, Failure to thrive, Intrauterine ... OMIM:616353
Crigler-Najjar Syndrome Type 1
Tremor, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unco... ORPHA:79234
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Central hypothyroidism, Postnatal growth retardation, Ataxia, Short stature OMIM:616113
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Argininemia
Micronodular cirrhosis, Frequent falls, Spastic paraparesis, Progressive spastic quadriplegia, Po... OMIM:207800
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Cholestasis, Intrauterine... OMIM:603358
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Short stature... OMIM:213200
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Jaundice, Cho... ORPHA:65682
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Postnatal growth retardation... OMIM:232700
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia OMIM:234350
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Hy... ORPHA:177910
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Myeloid leukemia, Cirrhosis, Premature graying of hair, Pancytopenia, Aplastic anemia, Leukemia, ... OMIM:614743
Combined Oxidative Phosphorylation Deficiency 26
Cirrhosis, Babinski sign, Spasticity OMIM:616539
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Portal hypertension, Cirrhosis, Short stature, Hepatic failure OMIM:210050
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Short stature ORPHA:2786
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Low anterior hairline, Amenorrhea, Oligomenorrhea, Hepatic steat... ORPHA:528
Spastic Paraparesis And Deafness
Hypogonadism, Tremor, Spastic paraparesis, Short stature OMIM:312910
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Hepatocellular carcinoma, Hep... OMIM:601847
Trichohepatoenteric Syndrome 1
Jaundice, Small for gestational age, Hypoalbuminemia, Cirrhosis, Hypermethioninemia, Hepatic fail... OMIM:222470
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Classic Phenylketonuria
Hemiplegia, Tremor, Hypopigmentation of hair, Hyperphenylalaninemia, Hypertonia, Growth delay, Pa... ORPHA:79254
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Oligomenorrhea, Hepatic steatosis, Hirsutism, Hyperuricemia, Primary amenorrhea, Hyper... OMIM:604367
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Hyperpigmentation of the skin, Elevated hepatic transaminase, Sp... ORPHA:75563
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Urocanase Deficiency
Tremor, Ataxia, Fair hair, Short stature, Blue irides OMIM:276880
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Distal sensory impairment, Elevated circulating creatine ... OMIM:618387
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Ataxia, Obesity, Hyperactivity, Hypopigmentation... ORPHA:411515
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Clumsiness, Elevated hepatic tran... ORPHA:905
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Growth delay, Hepatomegaly, Hypertriglyceridemia, Splen... OMIM:613027
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran... ORPHA:101330
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Sacral hypertrichosis, Highly arched eyebrow, Broad eyebrow, Limb hypertonia, ... ORPHA:457351
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Nai... ORPHA:79397
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Glutathionuria
Tremor OMIM:231950
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, I... OMIM:278000
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Syndromic Diarrhea
Cirrhosis, Hypopigmentation of hair, Abnormality of iron homeostasis, Uncombable hair, Intrauteri... ORPHA:84064
Roifman Syndrome
Prominent eyelashes, Hypoplasia of the corpus callosum, Hyperconvex nail, Hippocampal atrophy, Mi... ORPHA:353298
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Hepatic failure, Failure to thrive OMIM:602579
Cholestasis, Progressive Familial Intrahepatic, 4
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatic failure, Portal hypertension OMIM:615878
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Decreased liver function, Abnormal circulating porphyrin concentration, Cholelithiasis ORPHA:79278
Anonychia With Flexural Pigmentation
Anonychia, Abnormal hair morphology, Alopecia of scalp, Axillary and groin hyperpigmentation and ... ORPHA:69125
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Dystonia, Tremor, Growth delay, Oculomotor apraxia, Ataxia, Hype... OMIM:612716
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks, Eosinophilia OMIM:614323
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Short stature, Ataxia OMIM:617862
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Oligomenorrhea, Irregular menstru... ORPHA:370
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Ataxia, Spasticity OMIM:615889
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increased serum iron, ... ORPHA:446
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Delayed puberty, Short stature, General... ORPHA:1816
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Pigmentary retinopathy, Hypergonadotropic hypogonadism, Ataxia, Spasticity OMIM:614307
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign,... OMIM:610245
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Thumb Deformity And Alopecia
Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Waardenburg Syndrome, Type 4A
White eyebrow, Spastic paraparesis, Premature graying of hair, Heterochromia iridis, Ataxia, Whit... OMIM:277580
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration OMIM:614018
Urocanic Aciduria
Abnormal circulating histidine concentration, Gait ataxia, Truncal ataxia, Ataxia, Action tremor,... ORPHA:210128
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Oligomenorrhea, Irregular menstru... ORPHA:264580
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Hepatomegaly, Thrombocytopenia, Hypoplasia of the thym... OMIM:603554
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Paresthesia, Postnatal growth retardation OMIM:615361
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Beta-Thalassemia Intermedia
Cirrhosis, Abnormality of iron homeostasis, Hepatocellular carcinoma, Cholelithiasis, Hepatomegal... ORPHA:231222
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Oligomenorrhea, Hepatic steatosis, Hyperuricemia, Primary amenorrhea, Hepatomegaly, Hy... ORPHA:79083
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Jaundice, Hepatic failure, Hyperammonemia OMIM:617049
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Dominant Beta-Thalassemia
Cirrhosis, Abnormality of iron homeostasis, Hepatocellular carcinoma, Growth delay, Failure to th... ORPHA:231226
Generalized Eruptive Histiocytosis
Spotty hyperpigmentation, Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Paresthesia, Hypergonadotropic hypogonadism, Macrovesic... ORPHA:298
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Myo... ORPHA:98763
Coach Syndrome 1
Cirrhosis, Dystonia, Elevated hepatic transaminase, Growth delay, Oculomotor apraxia, Ataxia, Hep... OMIM:216360
Citrullinemia, Classic
Cirrhosis, Hypoargininemia, Hyperglutaminemia, Lethargy, Ataxia, Hepatomegaly, Hyperammonemia, Ep... OMIM:215700
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Fair hair, Hepatomegaly, Failure to thrive, Splenomegaly, Hypopigm... OMIM:269920
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Impaired distal vibration sensation, Elevated circul... ORPHA:276435
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Transaldolase Deficiency
Cirrhosis, Abnormal circulating glutamine concentration, Increased serum bile acid concentration,... ORPHA:101028
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hyperphenylalaninemia, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Tremor, Waddling gait, Broad-based gait OMIM:182920
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Tremor, Ataxia, Spasticity OMIM:278780
Roifman Syndrome
Prominent eyelashes, Hepatomegaly, Splenomegaly, Microcephaly, Eosinophilia OMIM:616651
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Bradykinesia, Parkinsonism, Elevated circulating creatine ... OMIM:612953
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Beta-Thalassemia Major
Cirrhosis, Abnormality of iron homeostasis, Hepatocellular carcinoma, Growth delay, Failure to th... ORPHA:231214
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Abnormality of skin pigmentation, Degenerativ... OMIM:268040
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Synophrys, Hepatic fibrosis, Hepatomegaly, Decreased liver fun... OMIM:606003
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Sparse hair, Ridged fingernail, Fingernail dysplasia, Severe short ... ORPHA:2251
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia OMIM:212050
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Elevated hepatic transaminase, Hypoplasia of the corpus callosum, Cerebral atrophy, Ch... OMIM:614576
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Abetalipoproteinemia
Hypoalbuminemia, Impaired proprioception, Abnormal circulating apolipoprotein concentration, Uppe... ORPHA:14
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Cirrhosis, Premature graying of hair, Pancytopenia, Aplastic anemia, Anemia, Bo... OMIM:614742
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides OMIM:103500
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Fair hair, Hyperactivity, Generalized hypo... OMIM:261600
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash m... ORPHA:381
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Short stature, Alopecia, Failure to thrive, Fragile nails OMIM:242150
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Hypomelanotic macule, Spo... ORPHA:79399
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Postnatal growth retardation, Decreased liver f... OMIM:617093
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Intentio... ORPHA:397946
Waardenburg Syndrome, Type 2A
Albinism, White eyebrow, Premature graying of hair, Heterochromia iridis, Synophrys, White eyelas... OMIM:193510
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Hypertonia, Hepatomeg... ORPHA:79477
Menkes Disease
Sparse hair, Hypertonia, Short stature, Intrauterine growth retardation, Hypopigmentation of the ... OMIM:309400
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Choreoathetosis, Tremor, Hyperphenylalaninemia, Hypertonia, Bradykinesia, Ataxia, Parki... OMIM:261640
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Abnormal hair morphology OMIM:113750
Autoimmune Hepatitis
Increased total bilirubin, Acute hepatitis, Cirrhosis, Vitiligo, Elevated hepatic transaminase, V... ORPHA:2137
Adams-Oliver Syndrome
Cirrhosis, Porencephalic cyst, Sparse hair, Absent fingernail, Thrombocytopenia, Periventricular ... ORPHA:974
Ataxia-Telangiectasia
Tremor, Hypopigmentation of hair, Elevated hepatic transaminase, Premature graying of hair, Gait ... ORPHA:100
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Paronychia, Ataxia, Hepatomegaly, Alopecia of scalp, Splenomegaly, Failure to t... OMIM:201100
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Portal ... OMIM:616278
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Aceruloplasminemia
Increased circulating ferritin concentration, Cogwheel rigidity, Abnormality of extrapyramidal mo... OMIM:604290
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Short stature, Ataxia ORPHA:1368
Peroxisome Biogenesis Disorder 5B
Tremor, Elevated levels of phytanic acid, Oculomotor apraxia, Ataxia, Unsteady gait, Decreased li... OMIM:614867
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Pulmonary Fibrosis, Idiopathic
Cirrhosis OMIM:178500
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Short stature OMIM:614947
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair, Short stature ORPHA:1355
Waardenburg Syndrome, Type 4B
White eyebrow, Premature graying of hair, Heterochromia iridis, White eyelashes, White forelock, ... OMIM:613265
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Nail pits, Reticular hyperpigmentation, Premature graying of hair, Sparse hair, Ridged... OMIM:127550
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Short stature, Rigidity OMIM:617836
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Porphyria Variegata
Elevated hepatic transaminase, Hepatocellular carcinoma, Hyponatremia, Tetraparesis, Respiratory ... ORPHA:79473
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Ataxia, Hypopigmentation of the skin, Tongue thr... ORPHA:411511
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Mitochondrial Myopathy With Lactic Acidosis
Dystonia, Increased serum pyruvate, Growth delay, Toe walking, Hemiparesis, Postnatal growth reta... OMIM:251950
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Alopecia, Eosinophilia OMIM:618282
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Elevated circulating alanine ... ORPHA:53035
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Tremor, Hypopigmentation of hair, Ataxia, Hypopigmentation of the skin, To... ORPHA:98794
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia OMIM:615387
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... ORPHA:98907
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Hypothyroidism, Periportal fibrosi... ORPHA:30391
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Gait disturbance, Postnatal growth retardation, Ata... ORPHA:391417
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Cinca Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hepatosplenomegaly, ... OMIM:607115
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow, Intrauterine growth retardatio... ORPHA:261304
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Short stature, Hepatic failure, Low posterior hairline, Hypopigmentation of the skin ORPHA:261519
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Abnormal lymphocyte morphology, Hepatomegaly, An... ORPHA:39041
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Hypoalbuminemia... ORPHA:367
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock, Ataxia OMIM:172850
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Acquired Generalized Lipodystrophy
Generalized hirsutism, Cirrhosis, Hepatic steatosis, Abnormal circulating lipid concentration, Ac... ORPHA:79086
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Inability to walk, Growth delay, Hypertonia, Ataxia, Hepatomegaly, Jaundice, Short stature, Splen... OMIM:608885
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Hirsutism, Dysmetria, Short stature OMIM:610185
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Short stature OMIM:610798
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive OMIM:618951
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Parkinsonism, Dysmetria, Babinski sign OMIM:618093
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Dystonia, Tremor, Waddling gait OMIM:617557
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
Cystic Echinococcosis
Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, Abnormality of the peritoneum, ... ORPHA:400
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Hypertyrosinemia, Hepatocellular carcinoma, Hypophospha... OMIM:276700
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Choreoathetosis, Tremor, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, L... OMIM:606159
Primary Biliary Cholangitis
Cirrhosis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Biliary cirrhosis, Abnormal c... ORPHA:186
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Thin eyebrow, Eosinophilia OMIM:618092
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Hepatic cysts, Hepatosplenomegaly, Eosinophilia OMIM:618999
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Hepatic failure, Cholangitis OMIM:615207
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Hepa... ORPHA:131
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse hair, Absent eyelashes, Spotty hypopigmentation, Sparse lateral eye... ORPHA:79133
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Somatic sensory dysfunction, Distal sensory impairment, Elevated circu... ORPHA:90117
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Tremor, Rigidity OMIM:615010
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... OMIM:609270
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Tremor, Ataxia, Short stature, Rigidity, Spasticity OMIM:612438
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Hep... OMIM:304790
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hyperton... OMIM:203700
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Ataxia, Hyperactivity OMIM:300983
Joubert Syndrome With Hepatic Defect
Cirrhosis, Tremor, Elevated hepatic transaminase, Gait disturbance, Chronic hepatic failure, Ocul... ORPHA:1454
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Conjugate... ORPHA:480520
Glycogen Storage Disease Iv
Portal hypertension, Cirrhosis, Hepatosplenomegaly, Hepatic failure OMIM:232500
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Hypocalcemia, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Growth ... OMIM:613658
Beta-Thalassemia
Abnormality of iron homeostasis, Cholelithiasis, Hepatomegaly, Hepatitis, Splenomegaly, Hypogonad... ORPHA:848
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis, Premature graying of hair ORPHA:66633
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Tremor, Limb ataxia, Oculomotor apra... OMIM:208920
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Tremor, Myoclonus OMIM:608105
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Decrea... OMIM:615486
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Abnormality of skin pigmentation, Cirrhosis, Small nail, Upper limb spasticity, Hepatomegaly, Low... OMIM:300868
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Piebaldism
Hypopigmentation of hair, White eyebrow, Heterochromia iridis, Synophrys, Ataxia, White eyelashes... ORPHA:2884
Incontinentia Pigmenti
Abnormality of skin pigmentation, Nail pits, Sparse hair, Breast hypoplasia, Leukocytosis, Ridged... OMIM:308300
Xeroderma Pigmentosum, Complementation Group F
Tremor, Decreased body weight, Ataxia, Short stature, Numerous pigmented freckles OMIM:278760
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Wrinkly Skin Syndrome
Sparse hair, Slurred speech, Postnatal growth retardation, Progressive cerebellar ataxia, Failure... ORPHA:2834
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Pigmentary retinopathy, Thick hair... OMIM:617675
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Al-Raqad Syndrome
Inability to walk, Unsteady gait, Hypopigmentation of the skin OMIM:616459
Dyskeratosis Congenita
Premature graying of hair, Bone marrow hypocellularity, Cerebral calcification, Anemia, Neoplasm ... ORPHA:1775
Pearson Syndrome
Hypocalcemia, Pancreatic fibrosis, Postnatal growth retardation, Small for gestational age, Hypom... ORPHA:699
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Mildly elevat... ORPHA:401768
Waardenburg Syndrome, Type 3
Spastic paraplegia, Heterochromia iridis, Premature graying of hair, Synophrys, Hypopigmented ski... OMIM:148820
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Red hair, Hyperbilirubinemia, Cholestasis, Adrenocorticotropic hormone d... OMIM:609734
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of coordination, Gait disturbance, Hypertonia, ... ORPHA:352649
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Azoospermia, Elevated hepatic transaminase, Decreas... ORPHA:300298
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Unsteady gait, Myoclo... ORPHA:79263
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance, Somatic sen... ORPHA:101077
Fructose Intolerance, Hereditary
Hypophosphatemia, Cirrhosis, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hyperbil... OMIM:229600
Angelman Syndrome
Clumsiness, Progressive gait ataxia, Fair hair, Limb tremor, Blue irides, Hyperactivity, Hypopigm... OMIM:105830
Niemann-Pick Disease Type B
Cirrhosis, Apraxia, Abnormal circulating lipid concentration, Cholelithiasis, Neoplasm of the liv... ORPHA:77293
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive ... ORPHA:331206
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Menometrorrhagia, Pancreatitis, Splenomegaly, Hyperlipidemia ORPHA:90970
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pancreatic fibrosis, ... OMIM:208540
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Ataxia, Brady... OMIM:615157
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Hyperactivity, Postnatal growth retardation, Severe intrauterine growth re... ORPHA:73272
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Choreoathetosis, Limb ataxia, Blepharospasm, Ata... ORPHA:101
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Short statur... ORPHA:1170
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Tongue thrusting, ... ORPHA:98795
X-Linked Agammaglobulinemia
Hypocalcemia, Weight loss, Hypopigmented skin patches, Hepatitis, Failure to thrive, Alopecia, Sh... ORPHA:47
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy, Choreoathetosis, Tremor, Hyperphenylalaninemia, Hyperkinetic movements, Limb ... OMIM:233910
Classic Galactosemia
Dystonia, Clumsiness, Speech apraxia, Jaundice, Delayed puberty, Secondary amenorrhea, Male infer... ORPHA:79239
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Spastic diplegia, Generalized hypopigmentation OMIM:615075
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Kimura Disease
Eosinophilia ORPHA:482
Parkinsonism-Dystonia, Infantile, 2
Dystonia, Gait ataxia, Tremor, Incoordination, Oculogyric crisis, Hyperhidrosis, Parkinsonism, Sh... OMIM:618049
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Growth delay, Bradykinesia, Oculogyric crisis, Limb hypertonia, Hyperhidrosis, ... ORPHA:70594
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Large clumps of pigment irregularly distributed alo... ORPHA:167
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Late-Onset Isolated Acth Deficiency
Vitiligo, Hyponatremia, Pituitary adenoma, Hyperuricemia, Normocytic anemia, Adrenocorticotropic ... ORPHA:199299
Spinocerebellar Ataxia Type 36
Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Ataxia, Tongue fasciculations, Dysm... ORPHA:276198
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Elevated p... ORPHA:470
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Tremor, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Immunodeficiency 49
Lymphopenia, Hirsutism, Eosinophilia OMIM:617237
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Waddling gait, Myocl... ORPHA:2590
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Impaired distal proprioception, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty wa... ORPHA:137898
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Hepatitis, Hepatosplenomegaly, Eosinop... ORPHA:169160
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Abnormal eosinophil morphology, Abnormal fingernail morphology ORPHA:1164
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
Netherton Syndrome
Brittle scalp hair, Sparse scalp hair, Hypereosinophilia, Sparse and thin eyebrow, Brittle hair OMIM:256500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Babinski sign, Distal sensory impairment, Steppage gait, Spasticity OMIM:609260
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Overweight, Decreased serum iron, Failure to thrive, Repetitive compulsive beha... ORPHA:391372
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Interlobular bile duct destruction, Interface hepatitis, Elevated hepatic transaminase... ORPHA:562639
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Toe walki... OMIM:302800
Chediak-Higashi Syndrome
Iris hypopigmentation, Tremor, Hypopigmentation of hair, Giant melanosomes in melanocytes, Silver... OMIM:214500
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Growth delay, Short stature... OMIM:616586
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Hypermethioninemia, Brittle hair, Failure to thrive, Pancreatitis, Hyperhomocy... OMIM:236200
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Hypothyroidism, Chro... OMIM:269200
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Dysmetria, Spasticity OMIM:617810
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of hair, Abnormality of retinal pigmentation, Freckling, ... ORPHA:79432
Zinc Deficiency, Transient Neonatal
Decreased serum zinc, Alopecia OMIM:608118
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Hepatomegaly, Abno... ORPHA:98849
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Eosinophilia OMIM:253600
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Hepatomegaly, Chronic hepatitis... OMIM:308230
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Unsteady gait,... OMIM:617435
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:99014
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Reynolds Syndrome
Hepatomegaly, Jaundice, Cirrhosis, Xerostomia ORPHA:779
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Hepatic cysts, Lymphopenia, Progressive microcephaly, Eosinophilia OMIM:617425
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls OMIM:159950
Classic Mycosis Fungoides
Irregular hyperpigmentation, Abnormality of the nail, Hypopigmented skin patches, Hepatomegaly, A... ORPHA:2584
Primary Sclerosing Cholangitis
Cirrhosis, Elevated hepatic transaminase, Thyroiditis, Hepatocellular carcinoma, Acute hepatic fa... ORPHA:171
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Choreoathetosis, Tremor, Hypertonia, He... OMIM:618877
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Short stature OMIM:215250
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Cerebral calcification, Eosinophilia ORPHA:90045
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Central nervous system degeneration, Micronodular cirrhosis, Abnormal periventricular white matte... OMIM:192315
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Hypereosinophilia, Elevated circulating C-reactive pro... OMIM:617388
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, F... ORPHA:79434
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Short stature, Hyperactivity, Shuffl... ORPHA:3077
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Growth delay, Cholestasis, Hepatic fibrosis, De... ORPHA:541423
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Sparse eyebrow, Dystonia, Sparse eyelashes, Dysmetria, Fa... OMIM:617988
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Hypothyroidism, Acute hepatic failure, Cholangitis, Hepatitis, Hypersplen... ORPHA:228426
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy, Abnormality of hair texture OMIM:601957
Huntington Disease-Like 2
Dystonia, Chorea, Bradykinesia, Action tremor, Rigidity OMIM:606438
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Cirrhosis, Hyperoxaluria, Hepatomegaly OMIM:601539
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Incontinentia Pigmenti
Abnormality of skin pigmentation, Irregular hyperpigmentation, Abnormality of the nail, Abnormal ... ORPHA:464
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Dystonia, Postural tremor, Head tremor, Abnormal pyramidal sign, Oculomotor... ORPHA:64753
Sialidosis Type 2
Tremor, Ataxia, Hepatomegaly, Short stature, Splenomegaly ORPHA:87876
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Micronodular cirrhosis, Dystonia, Elevated hepatic transaminase, Microvesicula... ORPHA:404454
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Increased serum iron, Prolonged neonatal jaundice, ... ORPHA:766
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Impaired tactile sensation, Difficulty walki... ORPHA:206443
Angelman Syndrome
Inability to walk, Iris hypopigmentation, Tremor, Delayed menarche, Ataxia, Fair hair, Tongue thr... ORPHA:72
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Hypothyroidism, Poor fine motor coordination, R... OMIM:300623
O'Sullivan-Mcleod Syndrome
Atrophy of the spinal cord, Eosinophilia ORPHA:99965
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Slc35A2-Cdg
Inability to walk, Elevated hepatic transaminase, Spastic tetraparesis, Failure to thrive in infa... ORPHA:356961
Prader-Willi Syndrome
Infertility, Hypopigmentation of hair, Impaired pain sensation, Iris hypopigmentation, Oligomenor... OMIM:176270
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90342
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Dystonia, Tremor, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... ORPHA:96
Gaucher Disease
Abnormality of skin pigmentation, Cirrhosis, Tremor, Abnormality of extrapyramidal motor function... ORPHA:355
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy, Hyperhidrosis, Pancreatic islet-cell hyperplasia ORPHA:276608
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Hyperhidrosis, Ataxia ORPHA:29822