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Gene: Iqce MGI:1921489

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Gene Summary

Name:
IQ motif containing E
Synonyms:
1700028P05Rik

Order Alleles

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
increased neutrophil cell number Iqcetm1b(EUCOMM)Hmgu HOM Early adult 2.73×10-08
increased mean corpuscular volume Iqcetm1b(EUCOMM)Hmgu HOM Early adult 2.39×10-07
decreased total retina thickness Iqcetm1b(EUCOMM)Hmgu HOM   Early adult 3.57×10-06
decreased lymphocyte cell number Iqcetm1b(EUCOMM)Hmgu HOM Early adult 4.30×10-09
increased circulating phosphate level Iqcetm1b(EUCOMM)Hmgu HOM   Early adult 5.44×10-05
tremors Iqcetm1b(EUCOMM)Hmgu HOM Early adult 4.82×10-06
short tibia Iqcetm1b(EUCOMM)Hmgu HOM Early adult 6.59×10-05
abnormal locomotor behavior Iqcetm1b(EUCOMM)Hmgu HOM Early adult 8.00×10-07
decreased circulating glucose level Iqcetm1b(EUCOMM)Hmgu HOM   Early adult 4.31×10-05
decreased circulating serum albumin level Iqcetm1b(EUCOMM)Hmgu HOM Early adult 2.88×10-05

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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

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X-ray

XRay Images Whole Body Lateral Orientation

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Iqce 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 Iqce by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Optic Atrophy 2
Optic atrophy, Absent Achilles reflex, Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Pes cavus, Tremor, Elevated circulating creatine kinase conce... OMIM:615048
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Myoclonic spasms, Hypoc... ORPHA:94090
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Pes cavus, Distal lower limb muscle weakness, Steppage gait, Hypercholesterolemi... ORPHA:94124
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Absent patellar reflexes, Abnormal foot morphology, Tremor, Decreased patellar reflex, Mildly ele... OMIM:614369
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone... OMIM:618618
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Chorea, Limb ataxia, Gait ataxia, Pes cavus, Tremor, Elevated circulating creati... OMIM:208920
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Brachydactyly, Hyperphosphatemia, Hypocalcemia OMIM:603233
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Gait imbalance, Postural tremor, Elevated circulating creatine kina... ORPHA:64753
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... OMIM:614561
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Difficulty walkin... ORPHA:93323
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati... ORPHA:309169
Oslam Syndrome
Radioulnar synostosis, Abnormality of neutrophils, Clinodactyly of the 5th finger, Increased mean... ORPHA:2760
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Pes cavus, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Blue Diaper Syndrome
Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia ORPHA:94086
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Diarrhea 13
Hypoalbuminemia, Recurrent hypoglycemia OMIM:620357
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Pes cavus, Tremor, Rigidity, Ataxia OMIM:617018
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Hypoparathyroidism, Familial Isolated, 1
Chvostek sign, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, ... OMIM:209950
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Hypertonia, Elevated circulating creatine kinase concentration OMIM:154276
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... OMIM:616860
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Radial bowing, Decreased circulating beta-2-m... OMIM:241600
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Pes cavus, Palmoplantar hyperkeratosis, Tremor OMIM:309560
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Increase... OMIM:267700
Alg6-Cdg
Hypoalbuminemia, Retinal degeneration, Decreased LDL cholesterol concentration, Brachydactyly, Ro... ORPHA:79320
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia, ... OMIM:613839
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Neutropenia, Ataxia, Spastic tetraparesis, Hemolytic anemia, Intention tr... OMIM:266130
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Pes cavus, Gait ataxia, Cogwheel rig... OMIM:128230
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Congenital Glucokinase-Related Hyperinsulinism
Hand tremor, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal... ORPHA:79299
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Rigidity, Elevated circulating creatine kinase concentration OMIM:145600
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened... OMIM:127000
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Glut1 Deficiency Syndrome 2
Reticulocytosis, Tremor, Reduced haptoglobin level, Splenomegaly, Ataxia, Dystonia, Hemolytic ane... OMIM:612126
Aceruloplasminemia
Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra... OMIM:604290
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Clinodactyly, Lower limb hypertonia, Pancytopenia, Hypomethion... ORPHA:2169
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyper... OMIM:277410
Vitamin D-Dependent Rickets, Type 3
Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, Bowing of the... OMIM:619073
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Angioid streaks of the fundus, Retinopathy, Retinal degeneration, Hyperuricemi... OMIM:239000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Elevated hepati... OMIM:615234
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Oculomotor apraxia, Hypercholesterolemia, Tetraplegia, Abnormal pyramidal sign, ... OMIM:616267
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Aceruloplasminemia
Parkinsonism, Torticollis, Ataxia, Decreased circulating ceruloplasmin concentration, Decreased c... ORPHA:48818
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Chorea, Limb dystonia, Retinopathy, Tremor, Rigidity, Upper motor neur... ORPHA:216873
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Myoclonic spasms, Corti... ORPHA:94089
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Hypermanganese... ORPHA:521406
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Short toe, Short finger, Hypocalcemic tetany, Brachydactyly, Short metatarsal,... OMIM:103580
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferri... OMIM:603553
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... OMIM:307800
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Thromboc... ORPHA:507
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Myoclonic spasms, Hypoc... ORPHA:36913
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... OMIM:260300
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Brachydactyly, Short metatarsal, Short meta... OMIM:612462
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Short thumb, Persistence of hemoglobin F, Micrognathia, Macroc... OMIM:612561
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait, Microcytic anemia OMIM:618805
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Hyperphenylalaninemia, Transient hyperphenylalaninemia OMIM:264070
Ceroid Lipofuscinosis, Neuronal, 5
Myoclonus, Dysmetria, Retinal degeneration, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, ... OMIM:256731
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Pes cavus, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal py... OMIM:607317
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Postural tremor, Gait ataxia, Action tremor, Myoclonus, Thrombocytopenia, Unstea... OMIM:254900
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Difficulty walking, Hyperbilirubin... ORPHA:1667
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Extrapyramidal muscular rigidity, Chorea, L... ORPHA:94093
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Ankle clonus, Babinsk... OMIM:159550
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Shwachman-Diamond Syndrome
Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo... ORPHA:811
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k... ORPHA:276435
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Lymphopenia, Hypertriglyceridemia, Ataxia OMIM:617575
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Gait disturbance, Abnormal pyra... OMIM:213600
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Pes cavus, Myoclonus, Tremor, Elevated circulating creatine kinase concentrat... OMIM:614018
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Hyperphosphatemia, Micrognathia, Hypocalcemia, Short foot, Hypocalcemic seizures, Sho... OMIM:241410
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Leg muscle stiffness, Difficulty walking, Limb ataxia, Pes cavus, Tremor, Bab... ORPHA:251282
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:158061
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Pes cavus, Gait ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, St... OMIM:618387
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Myoclonus, Hypertonia, Anemia, Unsteady gait OMIM:610090
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly, Arachnodactyly, Hypertriglyceridemia OMIM:619013
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Spasticity, Chorea, Dysmetria, Tremo... OMIM:164500
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc... ORPHA:2070
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Ataxi... OMIM:615924
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Broad distal phalanx of the thumb, Hyperphosphatemia, Short 3rd metacarpa... ORPHA:79444
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Stenosis of the medullary cavity of the long bones, Anemi... ORPHA:93325
Pseudohypoparathyroidism Type 1A
Broad 1st metacarpal, Short fifth metatarsal, Involuntary movements, Broad distal phalanx of the ... ORPHA:79443
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... ORPHA:98762
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Pes cavus, Tremor, Vocal cord paralysis OMIM:158580
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hyperphosphatemia, Long hallux, Cone-shaped epiphyses of the phalanges of the hand... OMIM:101800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Increased mean corpuscular volume, Persistence of he... OMIM:617052
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Polycythemia, Increased total iron binding capacity, Tremor, Rigidity, Dysto... OMIM:613280
Spinocerebellar Ataxia Type 37
Falls, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Spasticity, Elevated circulating phytanic acid concentration, Increased p... OMIM:614307
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Bulging epiphyses, Difficulty walking, Fibular bowing, Femoral b... OMIM:600081
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatine kinase ORPHA:99845
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Hypoglycemia, Hypocalcemia, Short humerus, Short ribs, Talip... OMIM:607143
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Optic atrophy, Hypoalbuminemia, Inability to walk, Leukopenia, Ac... OMIM:617303
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Small hand, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal a... OMIM:610185
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Cerebral palsy, Hypertonia, Hemolytic anemia, Hyper... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Cerebral palsy, Hypertonia, Hemolytic anemia, Hyper... ORPHA:529799
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... ORPHA:300298
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia, Clubbing, Clubb... OMIM:226300
Abetalipoproteinemia
Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Talipes equinovarus, Rod-cone dystrophy, At... ORPHA:14
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Hip subluxation, Short tibia, Camptodactyl... ORPHA:356961
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Glycosuria,... ORPHA:2298
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Neurodegeneration With Brain Iron Accumulation 7
Pes cavus, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Increased circul... OMIM:617916
Linear Verrucous Nevus Syndrome
Genu recurvatum, Toe syndactyly, Retinopathy, Aplasia/Hypoplasia of the fovea, Talipes, Hypophosp... ORPHA:2611
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Talipes equinovarus, Anemia, Thro... OMIM:608104
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro... ORPHA:292
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Short thumb, Macrocytic anemia, Triphalangeal thumb, Neutropenia OMIM:612562
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Equinovarus deformity, Abnormal foot morphology, Difficulty walking, Inabili... ORPHA:101077
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Thrombocytopenia, At... OMIM:127550
Spinocerebellar Ataxia Type 14
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Abnormality of the Achilles tendon, Hypore... ORPHA:98763
Fibronectin Glomerulopathy
Hypoalbuminemia, Pedal edema ORPHA:84090
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Spasticity, Abnormal optic nerve morphology, Tremor, Rigidity, Macular dystrophy, ... ORPHA:33445
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Spinocerebellar Ataxia 18
Pes cavus, Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Bulging epiphyses, Difficulty walking, Hypophosphatemic rickets,... OMIM:241530
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Pes cavus, Tremor, Babinski sign, Steppage gait, Hypertonia, Hammertoe OMIM:609260
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Bowing of the legs ORPHA:89937
Sanjad-Sakati Syndrome
Small hand, Hyperphosphatemia, Micrognathia, Hypocalcemia, Short foot ORPHA:2323
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Involuntary movements, Progressive extrapyramidal movement disorder, Resting tremo... ORPHA:401768
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hemiparesis, Autoimmune thrombocytopenia,... ORPHA:444463
Peroxisome Biogenesis Disorder 5B
Elevated circulating phytanic acid concentration, Pes cavus, Dysmetria, Tremor, Oculomotor apraxi... OMIM:614867
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Small hand, Tremor, Waddling gait OMIM:616269
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Loss of ambulation, Thrombocytopenia, Dystonia, Hemolytic anemia OMIM:615010
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Difficulty wal... OMIM:264700
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Elevate... OMIM:617013
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Leg muscle s... ORPHA:391411
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Chorea, Hyperammonemia, Hemiplegia/hemiparesis, Neutropenia, Thrombocytopenia, Ane... ORPHA:289916
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Autosomal Dominant Hypocalcemia
Optic atrophy, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Writer's cramp, Cortical myoclonus ORPHA:428
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia, Ataxia OMIM:616949
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Angioid streaks of the fundus, Calcinosis OMIM:211900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Splenomegaly, Increased mean corpuscular volume, Clubbing, Thrombocytopenia OMIM:620367
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Clinodactyly of the 5th finger OMIM:618347
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Ataxia With Vitamin E Deficiency
Pes cavus, Abnormality of retinal pigmentation, Dysmetria, Hemiplegia/hemiparesis, Tremor, Gait d... ORPHA:96
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Diamond-Blackfan Anemia
Absent thumb, Short thumb, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Incr... ORPHA:124
Trichothiodystrophy 6, Nonphotosensitive
Broad-based gait, Pes cavus, Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Coxa v... OMIM:616943
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin conce... ORPHA:713
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne... ORPHA:540
Myopathy With Extrapyramidal Signs
Optic atrophy, Extremely elevated creatine kinase, Difficulty walking, Chorea, Leukocytosis, Sple... OMIM:615673
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Optic atrophy, Spasticity, Hepatosplenomegaly, Spastic diplegia, Chorioretinal a... OMIM:619487
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Abnormal glucose homeostasis, Tremor, Elevated circulatin... ORPHA:90117
Diamond-Blackfan Anemia 1
Hypoplastic ilia, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, Increased mean corp... OMIM:105650
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia OMIM:128235
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Paraparesis... OMIM:612736
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Difficulty wa... ORPHA:289157
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Achilles tendon calcification, Hypercalcemia, Metacarpal periosteal thickening, Hyperphosphatemia OMIM:617994
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin concentrati... OMIM:606159
Hsd10 Mitochondrial Disease
Optic atrophy, Spasticity, Spastic tetraplegia, Hypoglycemia, Retinal degeneration, Elevated circ... OMIM:300438
Behr Syndrome
Optic atrophy, Hypoplastic optic chiasm, Dysmetria, Tremor, Babinski sign, Gait disturbance, Achi... OMIM:210000
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Difficulty wal... OMIM:277440
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Loss ... ORPHA:209335
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hemolytic anemia, Hyperkalemia, Periodic paralysis, Hand tremor OMIM:609153
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Arachnodactyly... OMIM:616730
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentratio... ORPHA:210128
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Pes cavus, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Progressive Supranuclear Palsy-Corticobasal Syndrome
Hand clenching, Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidi... ORPHA:240103
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... OMIM:600116
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Alg12-Cdg
Hypoalbuminemia, Sandal gap, Recurrent hypoglycemia, Hypocholesterolemia, Overlapping fingers, Mi... ORPHA:79324
Orofaciodigital Syndrome Ix
Toe syndactyly, Short tibia, Retinal coloboma, Hand polydactyly, Camptodactyly OMIM:258865
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Hypoglycemia, Myoclonus, Elevated circulating creatine kinase concentration, Clo... OMIM:619055
Saccharopinuria
Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnormal circulating enzyme... ORPHA:3124
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Micrognathia, Thrombocytopenia, Hip dysplasia, Proximal placem... ORPHA:261250
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Metaphyseal Chondrodysplasia, Jansen Type
Metaphyseal cupping, Clubbing of fingers, Micrognathia, Hip contracture, Knee flexion contracture... OMIM:156400
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Glycosuria, Genu valgum OMIM:618913
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Pes cavus, Dysmetria, Tremor, Ataxia, Unste... OMIM:213200
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Myoclonus, Abnormal circulating arginine concentration, Abnormal circulating glycin... ORPHA:79096
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Autoimmune hemolytic ane... ORPHA:37042
Oncogenic Osteomalacia
Abnormal foot morphology, Abnormality of the tarsal bones, Abnormal femur morphology, Hypocalcemi... ORPHA:352540
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:615362
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal central motor function, L... ORPHA:760
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Hemiatrophy, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Lopes-Maciel-Rodan Syndrome
Spasticity, Small hand, Bradykinesia, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hy... OMIM:617435
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Gait ataxia, Myoclonus, Dysmetria, Tremor, Hyperalaninemia, Dystonia, Dysdiadochok... ORPHA:254881
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Bulging epiphyses, Femoral bowing, Fibular bowing, Hypophosphate... OMIM:300554
Hypophosphatemic Bone Disease
Hypophosphatemia, Bowing of the legs OMIM:146350
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Hip dislocation, Splenomegaly OMIM:608776
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Unsteady gait, Inc... OMIM:619405
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Small hand, Ankle flexion contracture, Abnormal macular morphology, Upper limb und... OMIM:608799
Cystinosis
Type I diabetes mellitus, Retinopathy, Hypokalemia, Hypophosphatemia, Gait disturbance, Abnormal ... ORPHA:213
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia ORPHA:330050
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Optic atrophy, Spasticity, Hypoglycemia, Hyperalaninemia, Chorioretinal hyperpig... OMIM:618329
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Short tibia, Synostosis of carpal bones, Finger synda... ORPHA:1106
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Abnormal hip bone morphology, Genu valgum, Hypocalcemia, Hy... ORPHA:93160
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyramidal sign, Oculomoto... OMIM:617145
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatemic rickets, Hypoph... ORPHA:157215
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Clumsiness, Eyelid myoc... ORPHA:2590
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinas... OMIM:159950
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Palmoplantar keratoderma, Increased serum bile acid concentration, Decreased cir... OMIM:242150
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Spasticity, Hypoglycemia, Hyperammonemia, Decreased serum zinc, Conjugated hyper... OMIM:617093
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Dysmetria, Tremor, Rod-cone dystrophy, Atax... OMIM:212065
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Clubbing, Hypokalemia OMIM:174900
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
X-Linked Charcot-Marie-Tooth Disease Type 1
Pes cavus, Gait disturbance, Tremor, Ataxia ORPHA:101075
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... ORPHA:247585
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia OMIM:618093
Wilson Disease
Hypouricemia, Hypoalbuminemia, Poor motor coordination, Glycosuria, Hand tremor, Hemolytic anemia... OMIM:277900
Mpi-Cdg
Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Leukocytosis, Lung abscess, Anemia, Liver abscess ORPHA:67
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Systemic Lupus Erythematosus 17
Lymphopenia, Chorea, Leukopenia, Optic neuritis, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Pes cavus, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreo... ORPHA:391417
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, Tremor, Talipes equinovarus, Frequent falls OMIM:616719
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Small hand, Hand apraxia,... ORPHA:3095
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Hypoglycemia, Dysmetria, Tremor, Limb hypertonia, Rod-cone dystrophy, Ataxia, Hype... OMIM:617710
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Absent Achilles reflex, Pes cavus,... OMIM:302800
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Pes cavus, Tremor, Gait dist... ORPHA:98764
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Inability to walk, Gait ataxia, Dysmetria, Tremor, Apraxia OMIM:617810
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hypoglycemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circu... OMIM:251880
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Abscess, Abnormalit... ORPHA:36234
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, Ataxia OMIM:619028
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Gait disturbance OMIM:618090
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Pes cavus, Tremor, Ataxia OMIM:278780
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Dent Disease 1
Delayed epiphyseal ossification, Bulging epiphyses, Glycosuria, Fibular bowing, Femoral bowing, T... OMIM:300009
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Dystonia, Progressive cere... ORPHA:139485
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Charcot-Marie-Tooth Disease And Deafness
Talipes calcaneovalgus, Pes cavus, Tremor, Steppage gait, Gait disturbance, Split hand, Hammertoe OMIM:118300
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
X-Linked Charcot-Marie-Tooth Disease Type 4
Pes cavus, Gait disturbance, Tremor, Ataxia ORPHA:101078
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Tremor, Gait disturbance, Hypertonia, Anemia ORPHA:1192
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of... ORPHA:99750
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Hyperphenylalaninemia, Limb hypertonia, Hypertonia, Ata... OMIM:261640
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Poor motor coordination, Spasticity, Tetraparesis, Hyperinsulinemia, Gait ata... ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Tal... OMIM:619743
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia OMIM:618587
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myoclonic spasms, Ataxia,... ORPHA:79263
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Limb ataxia, Gait ataxia, Chorioretinal atrophy, Action tremor, Ret... OMIM:615651
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Leg muscle stiffness, Akinesia, Myoclonus, Tremor, Rigidity, Dyst... OMIM:606693
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Optic atrophy, Spasticity, Hand clenching, Slender finger, Micrognathia, Pes cav... OMIM:251300
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Bowing of the long bones, Hypophosphatemia, Fasting hypog... ORPHA:2088
Generalized Epilepsy With Febrile Seizures-Plus
Tibial torsion, Incoordination, Talipes valgus, Tremor, Pes planus, Limited knee extension, Ataxi... ORPHA:36387
Ataxia-Telangiectasia
Spasticity, Lymphopenia, Type II diabetes mellitus, Tremor, Gait disturbance, Ataxia, Diabetes me... ORPHA:100
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Tremor ORPHA:79234
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Abnormality of the lower limb OMIM:193100
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Optic atrophy, Leg muscle stiffness, Difficulty walking, Tremor, Loss of ambulation, Babinski sig... ORPHA:137898
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormal foot morphology, Abnormality of coordination, Limb dy... ORPHA:352649
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:240085
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Pedal edema OMIM:152800
Ataxia-Telangiectasia
Elevated circulating alpha-fetoprotein concentration, Dysdiadochokinesis, Inability to walk, Lymp... OMIM:208900
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Tremor, Hyperinsulinemic hypog... ORPHA:276608
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Small hand, Resting tremor, Micrognathia... OMIM:300055
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Limited mobility of proximal interphalangeal joint, Sidero... OMIM:222300
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,... ORPHA:340
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Clubbing OMIM:614441
Pyruvate Carboxylase Deficiency
Athetosis, Hypoglycemia, Clonus, Hyperalaninemia, Increased serum pyruvate OMIM:266150
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Tremor, Dysmetria, Hypersegmentation of neutrophil nuclei OMIM:615578
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Pedal edema, Increased al... ORPHA:86816
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Abnormal optic nerve morphology, Tremor, Babinski sign, Metaphy... ORPHA:83629
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Myoclonus, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, Tetra... OMIM:618278
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Subacute Inflammatory Demyelinating Polyneuropathy
Absent patellar reflexes, Difficulty walking, Limitation of movement at ankles, Leukocytosis, Tre... ORPHA:206594
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Oculopharyngodistal Myopathy 3
Ataxia, Pigmentary retinopathy, Tremor, Elevated circulating creatine kinase concentration OMIM:619473
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia ORPHA:329284
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb ataxia, Gait ataxia, Limb fasciculation... OMIM:615157
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Optic atrophy, Inability to walk, Hepatosplenomegaly, Leukopenia, Abnormality of... ORPHA:505248
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Generalized dystonia, Pes cavus, Tremor, Elevated circulating creatine... OMIM:614298
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... OMIM:614831
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Hepatosplenomegaly, Radioulnar synostosis, Congenital thrombocytopenia, Thro... OMIM:616738
Spinocerebellar Ataxia 2
Spasticity, Bradykinesia, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor,... OMIM:183090
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus OMIM:616026
Bent Bone Dysplasia Syndrome 2
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... OMIM:620076
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Pes cavus, Gait ataxia, Myoclonus, Dysmetria, Tremor, Babinski sign, Steppage gait... OMIM:616505
Cystathioninuria
Talipes equinovarus, Cystathioninemia, Tremor ORPHA:212
Opsismodysplasia
Hypoplastic ischia, Rhizomelia, Hypoplasia of the odontoid process, Metaphyseal cupping, Hypoplas... OMIM:258480
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... OMIM:301110
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Short foot, Brachydactyly, Neutrophilia OMIM:266265
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Akinesia, Postural tremor, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Calf muscle hypertrophy, Tremor, Elevated circulating creatine kinase concentration OMIM:313200
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Metaphyseal irregularity OMIM:239200
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign,... OMIM:607694
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Difficulty walking, Abnormality of coordination... ORPHA:442835
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Chorea, Hemolytic anemia, Thrombocytopenia OMIM:616744
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigidity, Dystonia,... OMIM:618877
Xfe Progeroid Syndrome
Hypoalbuminemia, Optic atrophy, Attenuation of retinal blood vessels, Pes cavus, Poor coordination OMIM:610965
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Clinodactyly, Pes cavus, Myoclonus, Gait ataxia, Tremor, Arachnodactyly, Hypertonia, Ataxia, Synd... OMIM:619092
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia OMIM:619738
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Rhizomelia, Leukopenia, Micrognathia, Myoclonus, Tremor, Hyperkinetic movements, Opis... OMIM:616271
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Purine Nucleoside Phosphorylase Deficiency