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Gene: Hmbox1 MGI:2445066

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Gene Summary

Name:
homeobox containing 1
Synonyms:
F830020C16Rik

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lymphocyte cell number Hmbox1em1(IMPC)Tcp HOM Early adult 9.28×10-07
cataract Hmbox1em1(IMPC)Tcp HOM   Early adult 6.45×10-05
enlarged lymph nodes Hmbox1em1(IMPC)Tcp HOM Early adult 0.00
decreased mean corpuscular hemoglobin Hmbox1em1(IMPC)Tcp HOM Early adult 5.86×10-05
impaired contextual conditioning behavior Hmbox1em1(IMPC)Tcp HOM Early adult 8.81×10-06
enlarged kidney Hmbox1em1(IMPC)Tcp HOM Early adult 0.00
tremors Hmbox1em1(IMPC)Tcp HOM Early adult 9.73×10-05
persistence of hyaloid vascular system Hmbox1em1(IMPC)Tcp HOM   Early adult 5.11×10-06
decreased circulating chloride level Hmbox1em1(IMPC)Tcp HOM Early adult 1.35×10-05
abnormal lens morphology Hmbox1em1(IMPC)Tcp HOM   Early adult 4.22×10-05
thick skin Hmbox1em1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Hmbox1em1(IMPC)Tcp HOM Early adult 0.00
increased circulating bilirubin level Hmbox1em1(IMPC)Tcp HOM Early adult 2.65×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

96 Images

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Eye Morphology

Images Ophthalmoscopy

108 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Human diseases caused by Hmbox1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hmbox1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Malaria
Acute kidney injury, Hyperbilirubinemia, Anemia, Cognitive impairment, Thrombocytopenia, Elevated... ORPHA:673
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Memory impairment, Tremor ORPHA:79234
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinuria, Hepatomeg... OMIM:620010
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Tremor, Abnormality of extrapyramidal motor function, Optic disc pallor OMIM:165300
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Rotor Syndrome
Conjunctival icterus, Bilirubinuria, Hyperbilirubinemia, Porphyrinuria, Conjugated hyperbilirubin... ORPHA:3111
Optic Atrophy 2
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis OMIM:179700
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Short thumb, Chorioretinal coloboma OMIM:274205
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A... OMIM:613673
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Sandhoff Disease, Adult Form
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creat... ORPHA:309169
Leukoencephalopathy, Brain Calcifications, And Cysts
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... OMIM:614561
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Polycythemia, Increased total iron binding capacity, Tremor, Rigidity, Dysto... OMIM:613280
Spastic Paraparesis And Deafness
Cataract, Spastic paraparesis, Tremor OMIM:312910
Hyperphenylalaninemia, Bh4-Deficient, D
Elevated urinary 7-biopterin level, Tremor, Hyperphenylalaninemia, Hypertonia, Transient hyperphe... OMIM:264070
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia OMIM:611105
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Tremor, Myoglobinuria, Ataxia, Hemolyti... ORPHA:713
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impairment, Ataxi... ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cataract, Limb ataxia, Gait ataxia OMIM:617133
Hijazi-Reis Syndrome
Hyperbilirubinemia, Astigmatism, Ankle clonus, Lower limb spasticity, Iris coloboma OMIM:301094
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia, Pigmentary retinopathy, Retinal degeneration, Ataxia, Micropenis ORPHA:3363
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Increase... OMIM:267700
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... OMIM:616278
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper... OMIM:619902
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sig... OMIM:615924
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Myoclonus, Abnormality of extrapyramidal motor fun... OMIM:204200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Basal Ganglia Calcification, Idiopathic, 1
Mental deterioration, Memory impairment, Athetosis, Chorea, Limb dysmetria, Tremor, Rigidity, Dys... OMIM:213600
Galactosemia Ii
Cataract, Galactosuria, Hypergalactosemia OMIM:230200
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Saccharopinuria
Mental deterioration, Hyperlysinuria, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyper... ORPHA:3124
Galactosemia Iv
Hepatomegaly, Cataract, Hypergalactosemia OMIM:618881
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Spastic paraplegia, Urinary incontinence, Abnormal circulating cholesterol concentratio... OMIM:270800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr... ORPHA:247598
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an... OMIM:235700
Lipoyltransferase 1 Deficiency
Spastic tetraparesis, Increased total bilirubin, Abnormality of extrapyramidal motor function, Hy... OMIM:616299
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Hammertoe, Tremor, Elevated circulating creatine kinase concentration OMIM:615048
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Splenomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Vacu... OMIM:269920
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Spastic dysarthria ORPHA:401830
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Stage 5 chronic ki... ORPHA:89938
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency, Brachydactyly OMIM:615995
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Optic atrophy... OMIM:617303
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Stomatocytosis, Spasticity, Splenomegaly, Hepatomegaly, Conjugated hy... OMIM:608885
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Spasticity, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, I... OMIM:614307
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:612653
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Cataract, Tapered toe, Elevated circu... OMIM:608836
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Astigmatism, Retrocollis, Tremor, Craniofacial dystoni... OMIM:617284
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Reduced haptoglobin level, Tremor, Ataxia, Dystonia, Hemolytic ane... OMIM:612126
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Folate-resp... OMIM:601775
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hemiparesis, Lymphadenopathy, Autoimmune ... ORPHA:444463
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum prostagland... OMIM:601678
Spastic Paraplegia 46, Autosomal Recessive
Mental deterioration, Spastic paraplegia, Cataract, Spastic gait, Urinary incontinence, Hand trem... OMIM:614409
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... ORPHA:216873
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Flared metaphysis, Extramedullary hematopoiesis, Hepatosplenomegaly, Hy... OMIM:259720
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
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
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferri... OMIM:603553
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Spasticity, Memory impairment, Optic atrophy OMIM:620312
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Progressive neurologic deterioration, Dysto... OMIM:261630
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Red... OMIM:266200
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:182900
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Myoclonus, Proteinuria, Episodic hemolytic anemia, Increas... ORPHA:251004
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts, Increased total bilirubin ORPHA:2924
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Cataract 11, Multiple Types
Cataract, Chorea, Hypertonia, Developmental cataract OMIM:610623
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Tetraparesis, Pure red cell aplasia, Lymphopenia, Recurren... OMIM:613179
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Neonatal hyperbilirubinemia, Urinary hesitancy, Babinski sign, Lower limb spa... OMIM:609727
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Phenylketonuria
Short attention span, Tremor, Phenylalaninuria, Lower limb spasticity, Hyperphenylalaninemia, Ata... ORPHA:716
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Spinocerebellar Ataxia 7
Mental deterioration, Spasticity, Macular degeneration, Optic atrophy, Pigmentary retinopathy, Ch... OMIM:164500
Kaposiform Lymphangiomatosis
Fractures of the long bones, Hepatosplenomegaly, Abnormal femur morphology, Splenomegaly, Abnorma... ORPHA:464329
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Confusion, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal mo... OMIM:615362
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum prostagland... OMIM:241200
Wilson Disease
Hypouricemia, Kayser-Fleischer ring, Hyperbilirubinemia, Limb dystonia, Hepatomegaly, Decreased c... OMIM:277900
Hepatic Veno-Occlusive Disease
Hepatomegaly, Renal insufficiency, Increased total bilirubin ORPHA:890
H Syndrome
Corneal arcus, Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Hallux valgus, Mic... ORPHA:168569
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... ORPHA:91547
Autosomal Dominant Spastic Paraplegia Type 29
Babinski sign, Hyperbilirubinemia, Clonus, Abnormality of the lower urinary tract ORPHA:101009
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Cataract, Stomatocytosis, Spastic paraplegia, Hepatosplenomegaly, B... ORPHA:168577
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Hereditary Spherocytosis
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... ORPHA:822
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Cognitive impairmen... ORPHA:64743
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower ... ORPHA:251282
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve... ORPHA:71275
Aceruloplasminemia
Parkinsonism, Cognitive impairment, Torticollis, Ataxia, Decreased circulating ceruloplasmin conc... ORPHA:48818
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinsonism, Hypermanganesemia, Sciss... ORPHA:521406
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Abnormal erythrocyte morphology,... ORPHA:288
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Senior-Loken Syndrome
Chronic kidney disease, Cataract, Cone-shaped epiphysis, Nephronophthisis, Stage 5 chronic kidney... ORPHA:3156
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Classic Phenylketonuria
Mental deterioration, Cataract, Memory impairment, Hemiplegia, Paraplegia, Tremor, Attention defi... ORPHA:79254
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Myoclonus, Tremor, Ataxia OMIM:616187
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-ind... OMIM:232800
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Progressive extra... ORPHA:240103
Fetal Cytomegalovirus Syndrome
Optic atrophy, Retinal hemorrhage, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Conjugat... ORPHA:294
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B... OMIM:611302
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney, Polydactyly OMIM:613885
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Wolcott-Rallison Syndrome
Hypoalbuminemia, Chronic kidney disease, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,... ORPHA:1667
Morm Syndrome
Micropenis, Cataract, Retinal atrophy, Abnormality of the kidney ORPHA:75858
Diaphanospondylodysostosis
Webbed neck, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Absent in utero rib ossific... OMIM:608022
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxia OMIM:615768
Xeroderma Pigmentosum, Complementation Group G
Cataract, Spasticity, Tremor, Ataxia OMIM:278780
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia, Urinary urgency OMIM:605909
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Lathosterolosis
2-3 toe cutaneous syndactyly, Cataract, Elevated circulating lathosterol concentration, Postaxial... OMIM:607330
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin ORPHA:90037
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Cerebral palsy, Hypertonia, H... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Cerebral palsy, Hypertonia, H... ORPHA:529799
Corticobasal Syndrome
Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig... ORPHA:454887
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri... OMIM:276700
Peroxisome Biogenesis Disorder 8B
Cataract, Spasticity, Spastic paraparesis, Optic atrophy, Elevated circulating phytanic acid conc... OMIM:614877
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin concentrati... OMIM:606159
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Thrombocytopenia, Hepatomegaly, Dystonia, Hemolytic anemia OMIM:615010
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Spinocerebellar Ataxia 48
Mental deterioration, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia... OMIM:618093
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Multicystic kidney dysplasia, Abnormal femoral torsion, Tibial torsion, Retinal colobom... ORPHA:500095
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Increased t... ORPHA:84081
Glycogen Storage Disease Xii
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulat... OMIM:611881
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculo... OMIM:617145
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, Hyperalaninemia, Progressive neurologic... ORPHA:254881
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Urinary incontinence, Urinary bladder sphincter dysfunction, Tremor, Babinski... OMIM:600363
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Dark urine, Hyperbilirubinemia, Abnormal serum bile acid concentrat... ORPHA:79303
Galactokinase Deficiency
Cataract, Nuclear cataract, Speech apraxia, Hepatosplenomegaly, Increased level of galactitol in ... ORPHA:79237
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Retinal detach... ORPHA:1473
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Developmental cataract, Ataxia ORPHA:1368
Autosomal Recessive Spastic Paraplegia Type 46
Cataract, Urinary incontinence, Head tremor, Babinski sign, Abnormal pyramidal sign, Lower limb s... ORPHA:320391
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Cone-shaped epiphyses of the ph... OMIM:208500
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Cataract, Pigmentary retinopathy, Hyperthreoninemia, Optic disc d... OMIM:204000
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Splenomegaly, Hepatomegaly ORPHA:79238
Abetalipoproteinemia
Hypoalbuminemia, Ataxia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipopr... ORPHA:14
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Macular degeneration, Fasciculations, Tortuosity of conjunctival vessels, Limb ataxia, ... ORPHA:284289
Hyperparathyroidism, Transient Neonatal
Thin ribs, Unilateral renal agenesis, Fractured rib, Metaphyseal spurs, Femoral bowing, Undulate ... OMIM:618188
4H Leukodystrophy
Mental deterioration, Cataract, Optic atrophy, Dysmetria, Tremor, Abnormality of extrapyramidal m... ORPHA:289494
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Megalocornea, Carpal bone hypoplasia, ... OMIM:252500
Epilepsy, Progressive Myoclonic, 6
Memory impairment, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Ataxia OMIM:614018
Galactosemia I
Increased level of galactitol in red blood cells, Cataract, Aminoaciduria, Galactosuria, Reduced ... OMIM:230400
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Cognitive impairment, Progressive cerebell... ORPHA:98763
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Mental deterioration, Involuntary movements, Cataract, Macular degeneration, Myoclonus, Dysmetria... OMIM:619780
Cystathioninuria
Cystathioninuria, Cystathioninemia, Tremor, Nephrolithiasis ORPHA:212
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acyl... ORPHA:391417
Hypoparathyroidism, Familial Isolated, 1
Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Chvostek sign, Hypocalcemic seizures OMIM:146200
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria, Hi... OMIM:613404
Myopathy With Extrapyramidal Signs
Optic atrophy, Extremely elevated creatine kinase, Chorea, Leukocytosis, Splenomegaly, Tremor, El... OMIM:615673
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Wolfram Syndrome 1
Cataract, Optic atrophy, Pigmentary retinopathy, Hydroureter, Limited mobility of proximal interp... OMIM:222300
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Paraparesis... OMIM:612736
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Maternal Uniparental Disomy Of Chromosome 1
Cataract, Progressive psychomotor deterioration, Pancytopenia, Epiphyseal stippling, Abnormal lim... ORPHA:251009
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Optic atrophy, Nephrotic syndrome, Bone marrow hypocellularity, Heparan sulfate ... ORPHA:505248
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abn... ORPHA:848
Laurence-Moon Syndrome
Cataract, Finger syndactyly, Renal insufficiency, Displacement of the urethral meatus, Hand polyd... ORPHA:2377
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary neopterin level, Tremor, Rigidity, Hyperkinetic movements, Elevated urinary sul... OMIM:233910
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Hyperphenylalaninemia, Limb hypertonia, Hypertonia, Ata... OMIM:261640
Linear Verrucous Nevus Syndrome
Mental deterioration, Cataract, Toe syndactyly, Abnormal cornea morphology, Hypophosphatemia, Abn... ORPHA:2611
Immunodeficiency 50
Lymphopenia, Neutropenia, Recurrent urinary tract infections OMIM:300988
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Congenital Rubella Syndrome
Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Hepa... ORPHA:290
Cach Syndrome
Cataract, Spasticity, Renal hypoplasia, Optic atrophy, Hepatosplenomegaly, Limb ataxia, Dysmetria... ORPHA:135
Neuraminidase Deficiency
Cataract, Urinary excretion of sialylated oligosaccharides, Epiphyseal stippling, Myoclonus, Sple... OMIM:256550
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Cognitive impairment, Motor deterio... ORPHA:79263
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Splenom... OMIM:232220
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren... OMIM:208085
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal o... ORPHA:95717
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Cataract, Arthralgia of the hip, Broad hal... ORPHA:1856
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Hypospadias, Pigmentary retinopathy, Optic atrophy, Athetosis, Elevated circulating phy... OMIM:614866
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circula... OMIM:208920
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Phenylketonuria
Cataract, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in... OMIM:261600
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Spasticity, 3-Methylglutaconic aciduria, Thrombocytopenia ORPHA:67048
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Punctate kerat... OMIM:557000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Myoclonus, Cardi... OMIM:618278
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis, Hepatomegaly OMIM:613977
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Sneddon Syndrome
Nephropathy, Mental deterioration, Memory impairment, Chorea, Tremor, Hemiparesis, Dementia ORPHA:820
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Hamme... OMIM:618387
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Prominent floating ribs, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Long penis, Premature fusion of the radial epiphyseal plates, Hypernatriuria, Hyponatremia, Eleva... ORPHA:90794
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Renal hypoplasia, Short iliac bones, Elevated circulating creatinine concentration, Ace... OMIM:614376
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia ORPHA:329284
Renal-Hepatic-Pancreatic Dysplasia 2
Femoral bowing, Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobulinuria, Glycosuria, Hyperbi... OMIM:227810
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Bachmann-Bupp Syndrome
Clinodactyly of the 5th finger, Attention deficit hyperactivity disorder, Hyperbilirubinemia, Low... OMIM:619075
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Marinesco-Sjögren Syndrome
Ataxia, Cataract, Spasticity, Optic atrophy, Abnormal circulating creatine kinase concentration, ... ORPHA:559
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Mental deterioration, Spasticity, Pill-rolling tremor, Resting tremor... OMIM:612953
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... ORPHA:447
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Memory impairment, Tremor, Rigidity, Dystonia, Parkinsonism with favorable ... ORPHA:240085
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus, Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concentration OMIM:619685
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Ataxia, Spasticity, Spastic paraparesis, Decreased urinary urate, Cerebral palsy, A... ORPHA:760
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia OMIM:268150
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Hematuria, Elevated circulating C-reactive pro... ORPHA:449395
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Tremor, Proteinuria, Anemia, Hypertonia, Progressive neurologic deterioration, Nephr... ORPHA:1192
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Dem... OMIM:159950
Hemochromatosis, Type 4
Cataract, Increased circulating ferritin concentration, Hepatomegaly, Anemia, Elevated transferri... OMIM:606069
Caroli Syndrome
Conjunctival icterus, Hypersplenism, Hyperbilirubinemia, Leukopenia, Leukocytosis, Thrombocytopen... ORPHA:480520
Microcephalic Primordial Dwarfism, Toriello Type
Cataract, Abnormal epiphysis morphology, Brachydactyly, Neutropenia, Abnormal rib morphology ORPHA:2643
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Tetraparesis,... ORPHA:363400
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Lower limb spasticity, Ataxia, Increased circulating very long-chain fatty aci... OMIM:617916
Reni Syndrome
Hypoalbuminemia, Mental deterioration, Focal segmental glomerulosclerosis, Steroid-resistant neph... OMIM:617575
Cystic Echinococcosis
Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Renal cyst, Eosinophilia, Membrano... ORPHA:400
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, Tremor, Hepatomegaly, Frequent falls OMIM:616719
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... OMIM:618528
Hypermanganesemia With Dystonia 2
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Elevated circulating creatine kinase con... OMIM:617013
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Hydronephrosis, Hand polydactyly, Urethral atresia, Absent radius, Proximal placem... OMIM:314390
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Small hand, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Short foot,... OMIM:610185
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Bile Acid Conjugation Defect 1
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
3-Methylglutaconic Aciduria Type 7
Cataract, Spasticity, Infection associated neutropenia, Nephrocalcinosis, Bone marrow hypocellula... ORPHA:445038
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Sialidosis Type 2
Nephropathy, Splenomegaly, Tremor, Corneal opacity, Ataxia, Hepatomegaly ORPHA:87876
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Hyperlipidemia, Hyperuricemia, Nephrolithiasis,... ORPHA:79259
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Spasticity, Optic atrophy, Dysmetria, Subcapsular cataract, Babinski sign, Ataxia, Inte... OMIM:612674
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Spasticity, Hepatomegaly, Optic disc pallor, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Coats Disease
Cataract, Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Tremor, Hyperglutamatemia, Hyperprolinemia, Hypoglut... ORPHA:3008
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Mental deterioration, Nephropathy, Focal segmental glomerulosclerosis, Postural ... OMIM:254900
Classic Galactosemia
Mental deterioration, Cataract, Incoordination, Speech apraxia, Postural tremor, Action tremor, C... ORPHA:79239
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Confusion, Elevated circulating creatinine concentration, Hyperbilirubinemia... ORPHA:542323
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Small hand, Spastic tetraplegia, Resting tremor, Tremor, Juvenile cataract, D... OMIM:300055
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Proximal femoral epiphysiolysis, Persistence of hemoglobin F, Metaphyseal scler... OMIM:260400
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Short attention span, Tremor, Dysmetria, Lower limb spasticity, Ataxia OMIM:619028
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Enlarged kidney ORPHA:79128
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Hypergalactosemia ORPHA:570422
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Confusion, Elevated circulating creatinine concentration, Reti... OMIM:274150
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy, Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Hypokale... OMIM:604278
Spinocerebellar Ataxia 42
Urinary incontinence, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive i... OMIM:616795
Liver Failure, Infantile, Transient
Hypoalbuminemia, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Lacti... OMIM:613070
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Diamond-Blackfan Anemia 3
Webbed neck, Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, P... OMIM:610629
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Clinodactyly, Short attention span, Attention deficit hyperactivity ... ORPHA:73272
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, R... OMIM:301110
Alpha-Mannosidosis, Adult Form
Ataxia, Cataract, Oligosacchariduria, Confusion, Hepatosplenomegaly, Pancytopenia, Clumsiness, Co... ORPHA:309288
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... OMIM:232200
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Limb ataxia, Myoclon... ORPHA:101
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Bardet-Biedl Syndrome 9
Cataract, Postaxial foot polydactyly, Renal insufficiency, Astigmatism, Polydactyly, Postaxial po... OMIM:615986
Congenital Erythropoietic Porphyria
Red-brown urine, Purple urine, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin ... ORPHA:79277
Hereditary Methemoglobinemia
Spasticity, Limb dystonia, Methemoglobinemia, Hypertonia, Athetosis, Spastic tetraplegia ORPHA:621
Isolated Atp Synthase Deficiency
Cataract, Spastic paraplegia, Renal hypoplasia, Optic atrophy, Hyperammonemia, 3-Methylglutaconic... ORPHA:254913
Autoimmune Hypoparathyroidism
Cataract, Calcium nephrolithiasis, Hyperphosphatemia, Laryngeal dystonia, Confusion, Hypocalcemic... ORPHA:36913
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hypersplenism, Hepatosplenomeg... ORPHA:731
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:607765
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Cataract, Nephritis, Anterior lenticonus, Glomerular base... OMIM:203780
Mevalonic Aciduria
Progressive cerebellar ataxia, Cataract, Nuclear cataract, Fluctuating splenomegaly, Hepatospleno... OMIM:610377
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Toe clinodactyly, Hyperbilirubinemia, Bulbous tips of toes, Hypocalcemia, 2-3 t... ORPHA:163979
Microphthalmia/Coloboma 12
Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Vesicoureteral ... OMIM:120200
Renal-Hepatic-Pancreatic Dysplasia 1
Polysplenia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atresia,... OMIM:208540
Endocrine-Cerebroosteodysplasia
Sandal gap, Microphallus, Preaxial polydactyly, Hyperechogenic kidneys, Fibular bowing, Tibial bo... OMIM:612651
Spastic Paraplegia 9A, Autosomal Dominant
Cataract, Abnormal pelvic girdle bone morphology, Spastic paraplegia, Urinary incontinence, Resti... OMIM:601162
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Cataract, Nephrotic syndrome, Mesangial hypercellularity OMIM:620425
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, H... OMIM:251880
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Optic atrophy, Conjunctival icterus, Polycythem... OMIM:606812
Pelizaeus-Merzbacher Disease
Mental deterioration, Spastic paraplegia, Optic atrophy, Generalized dystonia, Urinary urgency, I... OMIM:312080
Infantile Refsum Disease
Cataract, Spasticity, Optic atrophy, Abnormal epiphysis morphology, Elevated circulating phytanic... ORPHA:772
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... ORPHA:91495
Papillorenal Syndrome
Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Macular degener... OMIM:120330
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration OMIM:614292
Cutis Laxa, Autosomal Recessive, Type Iiia
Hypoornithinemia, Congenital hip dislocation, Cataract, Hyperammonemia, Low plasma citrulline, Hy... OMIM:219150
Peroxisome Biogenesis Disorder 13A (Zellweger)
Dicarboxylic aciduria, Hepatomegaly, Posterior embryotoxon, Increased circulating very long-chain... OMIM:614887
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Frontal lobe dementia, Chorea... ORPHA:157846
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Chorioretinal coloboma, Hyperbilirubinemia, Genu valgum, Hematuria, Progressive spast... OMIM:619475
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Focal dystonia, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Fish-Eye Disease
Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy, Corneal opacity, Hepatome... ORPHA:79292
Retinitis Pigmentosa 84
Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy OMIM:618220
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Progressive extrapyramidal muscular rigidity, Confusion, Chorea, S... ORPHA:282166
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Epiphyseal dysplasia, Congenital hip dislocation, Cataract, Spasticity, Aminoaciduria, Renal hypo... OMIM:617913
Spastic Paraplegia 9B, Autosomal Recessive
Cataract, Spasticity, Spastic paraplegia, Urinary retention, Pseudobulbar paralysis, Tremor, Babi... OMIM:616586
Short Stature, Microcephaly, And Endocrine Dysfunction
Cataract, Unilateral renal agenesis, Renal hypoplasia, Clinodactyly, Abnormal circulating lipid c... OMIM:616541
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Cataract, Memory impairment, Pigmentary retinopathy, Tremor, Elevated circu... ORPHA:79095
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal urinary color ORPHA:234
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Hemipares... ORPHA:1830
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Elevated urinary homovanillic acid, Incoordination, Tremor, Parkinsonism, Atax... OMIM:618049
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Spasticity, Hyperammonemia, Hydronephrosis, Decreased serum zinc, Duplicated col... OMIM:617093
Muscle-Eye-Brain Disease
Cataract, Optic atrophy, Hemiplegia/hemiparesis, Elevated circulating creatine kinase concentrati... ORPHA:588
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Abnormal epiphysis... ORPHA:95716
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Focal dystonia, Extrapyramidal muscular rigidity, Speech apr... ORPHA:99750
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Genu valgum, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias ORPHA:1381
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Renal tubular dysfu... OMIM:614886
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Tremor, Increased serum bile acid concentration ORPHA:69665
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop... ORPHA:859
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Juvenile Sialidosis Type 2
Cataract, Spasticity, Optic atrophy, Visceromegaly, Hepatosplenomegaly, Myoclonus, Dysmetria, Low... ORPHA:93399
Dystonia-Deafness Syndrome 1
Cataract, Hypoplastic scapulae, Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, ... OMIM:607371
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Cognitive imp... ORPHA:70594
Graft Versus Host Disease
Hepatosplenomegaly, Hyperbilirubinemia, Hemophagocytosis, Lymphadenopathy ORPHA:39812
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Gait ataxia, Dysmetri... ORPHA:1170
Beta-Thalassemia Intermedia
Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231222
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Sialidosis Type 1
Aminoaciduria, Cataract, Urinary excretion of sialylated oligosaccharides, Myoclonus, Splenomegal... ORPHA:812
Dent Disease
Renal hypophosphatemia, Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney ... ORPHA:1652
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613812
Refsum Disease, Classic
Cataract, Elevated circulating phytanic acid concentration, Retinal degeneration, Cardiomegaly, A... OMIM:266500
Ataxia With Vitamin E Deficiency
Mental deterioration, Abnormality of retinal pigmentation, Dysmetria, Hemiplegia/hemiparesis, Tre... ORPHA:96
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Spasticity, Ataxia, Abnormality of the urinary system, Ureteral ... ORPHA:2719
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Mental deterioration, Optic atrophy, Tremor, Babinski sign, Spastic ataxia, Clumsiness, Hypertoni... ORPHA:137898
Trisomy X
Multicystic kidney dysplasia, Tremor, Renal hypoplasia/aplasia, Attention deficit hyperactivity d... ORPHA:3375
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... ORPHA:397946
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Caroli Disease
Conjunctival icterus, Leukocytosis, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Conj... ORPHA:53035
Ataxia-Telangiectasia
Spasticity, Aplasia/Hypoplasia of the thymus, Lymphopenia, Tremor, Cognitive impairment, Ataxia ORPHA:100
Acrocephalopolydactylous Dysplasia
Polysplenia, Postaxial hand polydactyly, Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Distal Xq28 Microduplication Syndrome
Attention deficit hyperactivity disorder, Neonatal hyperbilirubinemia, Clinodactyly, Metatarsus a... ORPHA:293939
Pierson Syndrome
Cataract, Nephrotic syndrome, Hypoplasia of the iris, Hyperechogenic kidneys, Rieger anomaly, Uve... OMIM:609049
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Hip contracture, Abnormal renal cortex morphology, Osteolysis involving bones... ORPHA:464321
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Tremor, Methemoglobinemia, Opisthotonus, Hypertonia OMIM:250800
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Cataract, Microcytic anemia, Hepatomegaly OMIM:618805
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... ORPHA:277
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Involuntary movements, Spasticity, Optic atrophy, Abnormality of coordinati... ORPHA:442835
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Hypochromic anemia, Ocular albinism, Abnormal hip bone morpholog... ORPHA:2720
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Chorea, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:605479
Hb Bart'S Hydrops Fetalis
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Mohr-Tranebjaerg Syndrome
Mental deterioration, Optic atrophy, Focal dystonia, Generalized dystonia, Tremor, Ankle clonus, ... ORPHA:52368
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Small hand, Thin skin, Prominent fingertip pads, Sandal gap, Short 4th toe, Br... OMIM:615873
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Cataract, Spasticity, Leukopenia, Myoclonus, Tremor, 3-Methylglutaconic aciduria, Hyperki... OMIM:616271
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis... OMIM:606693
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Arachnodactyly, Retinal detachment, Lens subluxati... ORPHA:171844
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Broad thumb, Rapid neurologic deterioration, Splenomegaly, Abnormality o... ORPHA:585
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Refsum Disease
Cataract, Abnormal epiphysis morphology, Renal insufficiency, Splenomegaly, Hemiplegia/hemiparesi... ORPHA:773
Leukoencephalopathy With Calcifications And Cysts
Mental deterioration, Spasticity, Tremor, Abnormal pyramidal sign, Cognitive impairment, Ataxia, ... ORPHA:542310
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Tremor ORPHA:66633
Degcags Syndrome
Chronic kidney disease, Toe syndactyly, Hepatosplenomegaly, Hyperbilirubinemia, Genu valgum, Panc... OMIM:619488
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Alg9-Cdg
Hypoplasia of the bladder, Flared metaphysis, Abnormal renal artery morphology, Hydronephrosis, H... ORPHA:79328
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Anemia, Abnor... ORPHA:54251
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Hypomethioninemia, Hematuria, Neutropenia, Hepatomegaly, Delirium, Methylmalonic aci... OMIM:277400
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Ogden Syndrome
Congenital hip dislocation, Sandal gap, Broad hallux, Polycythemia, Hyperbilirubinemia, Metatarsu... OMIM:300855
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Neutrop... ORPHA:124
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Progressive extrapyramidal muscular rigidity, Axial dystonia... ORPHA:240071
Sneddon Syndrome
Mental deterioration, Lymphopenia, Hemiplegia, Tremor OMIM:182410
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Lead Poisoning
Chronic kidney disease, Memory impairment, Imbalanced hemoglobin synthesis, Increased LDL cholest... ORPHA:330015
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Nephroblastoma, Abnormality of the lymphatic system, Foot polyd... ORPHA:276280
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Rad... ORPHA:959
Brain Dopamine-Serotonin Vesicular Transport Disease
Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Co... ORPHA:352649
Microphthalmia, Lenz Type
Cataract, Microcornea, Webbed neck, Hypospadias, Finger syndactyly, Hydroureter, Camptodactyly of... ORPHA:568
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... OMIM:618877
Congenital Sialidosis Type 2
Ataxia, Cataract, Spasticity, Optic atrophy, Hepatosplenomegaly, Myoclonus, Dysmetria, Polydactyl... ORPHA:93400
Mietens Syndrome
Cataract, Microcornea, Avascular necrosis of the capital femoral epiphysis, Sclerocornea, Hypopla... ORPHA:2557
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Clubbing of toes, Overlapping toe, Vesicoureteral reflux, Neutropeni... ORPHA:163956
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Microcornea, Decreased mean corpuscular volume, Coxa valga OMIM:616943
Developmental Malformations-Deafness-Dystonia Syndrome
Mental deterioration, Hypoplastic scapulae, Cataract, Generalized dystonia, Femoral retroversion ORPHA:79107
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary incontinence, Memory impairment, Spastic gait, Tremor, Babinski sign, Abnormal pyramidal ... ORPHA:447753
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impaired oxidat... OMIM:618935
Ectopia Lentis Et Pupillae