Gene Summary

IQ motif containing E

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

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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.


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


Panel B FCS file(s)

6 Images


Panel A FCS file(s)

6 Images

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
Matching phenotypes Source
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642

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

Disease Similarity of
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign, Elevated ci... OMIM:160120
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Absent Achilles reflex, Babinski sign, Optic atrophy OMIM:311050
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Myoclonic spasms, Hyperphosphatemia, Hypoc... ORPHA:94090
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Pes planus, Pes cavus, Elevated circulating creatine kinase concentra... OMIM:615048
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Pes cavus, Hypoalbuminemia, Steppage gait OMIM:607250
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Distal lower limb muscle weakness, Pes cavus, Hypoalbuminemia, Step... ORPHA:94124
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Anemia, Splenomegaly, Decreased mean c... OMIM:615234
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Brachydactyly, Hyperphosphatemia, Short metacarpal OMIM:603233
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Gait disturbance, Babinski sign OMIM:300660
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Tremor, Limb ataxia, Oculomotor apra... OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Dystonia, Postural tremor, Head tremor, Abnormal pyramidal sign, Oculomotor... ORPHA:64753
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Oslam Syndrome
Abnormality of neutrophils, Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean... ORPHA:2760
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Hepatosplenom... OMIM:209950
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor, Abnormal foot morphology OMIM:614369
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Difficulty walking, Vocal cord paralysis, Pes cavus OMIM:158580
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Immunodeficiency 40
Lymphopenia OMIM:616433
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Methylmalonic acidem... OMIM:277410
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Methylcobalamin Deficiency Type Cble
Lethargy, Lower limb hypertonia, Neutropenia, Pancytopenia, Clinodactyly, Hypomethioninemia, Synd... ORPHA:2169
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hypertonia, Hyperkalemia, Hyperphosphatemia OMIM:154276
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor, Pes cavus, Palmoplantar hyperkeratosis OMIM:309560
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hydroxyprolinemia, Bowing of the long bones, Hyperuricemia, Retinal degeneration, A... OMIM:239000
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Pes cavus, Rigidity OMIM:617018
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hand tremor, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abn... ORPHA:79299
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Glutathione Synthetase Deficiency
Hemolytic anemia, Pigmentary retinopathy, Spastic tetraparesis, Neutropenia, Ataxia, Intention tr... OMIM:266130
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal atrophy, Elliptocytosis, Retinal pigment epithel... OMIM:616959
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Pedal edema, Thrombocytopenia, Acute my... ORPHA:86839
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Metaphyseal cupping, Bowing of the legs, Flared metaphysis, Genu ... OMIM:619073
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Transient hyperphenylalaninemia, Cogw... OMIM:128230
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Nephrotic Syndrome, Type 14
Lymphopenia, Ataxia, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Rigidity OMIM:145600
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Increased circulating ferritin concentration, Cogwheel rigidity, Abnormality of extrapyramidal mo... OMIM:604290
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Retinal calcification, Papilledema, Abnormality of the medullary cavity of the long... OMIM:127000
Hyperphenylalaninemia, Bh4-Deficient, D
Hyperphenylalaninemia, Transient hyperphenylalaninemia, Hypertonia, Tremor OMIM:264070
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Cortical subperiosteal resorption of humeral metaphyses, Hypocalcemic tetany, Laryn... ORPHA:94089
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, An... ORPHA:507
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Pseudohypoparathyroidism, Type Ia
Short toe, Short metatarsal, Short finger, Hypocalcemic tetany, Short metacarpal, Brachydactyly, ... OMIM:103580
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Increased circulating ferritin concentration, Dystonia, Decreased circulating copper concentratio... ORPHA:48818
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait, Microcytic anemia OMIM:618805
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Myoclonic spasms, Hyperphosphatemia, Hypoc... ORPHA:36913
Immunodeficiency 43
Radial bowing, Hypoproteinemia, Hypoalbuminemia, Hypoplasia of the ulna OMIM:241600
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypoglycemia OMIM:617156
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyr... ORPHA:216873
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Micrognathia, Short thumb, Increased mean corpuscular volume, Tripha... OMIM:612561
Shwachman-Diamond Syndrome
Metaphyseal irregularity, Neutropenia, Pancytopenia, Anemia, Leukopenia, Abnormality of finger, T... ORPHA:811
Aicardi-Goutieres Syndrome 6
Dystonia, Tremor, Hemolytic anemia, Loss of ability to walk, Rigidity OMIM:615010
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Short palm, Small hand, Short foot, Micrognathia, Hyperphosphatemia, Hypocalcemic s... OMIM:241410
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Pes cavus, Dysmetria, Elevated circulating creatine kinase concentra... OMIM:618387
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Op... OMIM:270500
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hypertriglyceridemia, Myoclonus,... OMIM:615924
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Myopathy, Spheroid Body
Tremor, Absent Achilles reflex, Waddling gait, Elevated circulating creatine kinase concentration... OMIM:182920
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Difficulty walking, Hyperbilirubinemia, Hyponatremia, Neut... ORPHA:1667
Pseudohypoparathyroidism, Type Ic
Short metatarsal, Hypocalcemic tetany, Short metacarpal, Brachydactyly, Hyperphosphatemia OMIM:612462
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Tremor, Ataxia OMIM:615945
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Achilles tendon contracture, Dysmetria, Babinski sign, Progress... OMIM:210000
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Thrombocytosis, Extrapyramidal muscular rigidity, Leukocytosis, Hypernatrem... ORPHA:94093
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypoalbuminemia ORPHA:54370
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Pes cavus, Myoclonus, Babinski sign, Fasciculations, Frequ... OMIM:607317
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly, Arachnodactyly OMIM:619013
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Pigmentary retinopathy, Ataxia, Spasticity OMIM:614307
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Short fifth metatarsal, Short 3rd metacarpal, Short metatarsal, Short 4th metacarpa... ORPHA:79444
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Thrombocytopenia, Hypoalbuminemia, Anemia, Talipes equinovarus OMIM:608104
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Leg muscle stiffness, Spastic ataxia, Limb ataxia, Difficul... ORPHA:251282
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Ankle clonus, Pancytopenia, Thrombocytopenia,... OMIM:159550
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia, Short distal phalanx of finger OMIM:241519
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Distal lower limb muscle weakness, Elevated circulat... ORPHA:276435
Eosinophilic Gastroenteritis
Leukocytosis, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Anemia, Eos... ORPHA:2070
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hemolytic anemia, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hepa... OMIM:611590
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Spinocerebellar Ataxia 7
Tremor, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Chorea, Progressive... OMIM:164500
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Hypoglycemia, Unsteady gait, Myoclonus, Anemia OMIM:610090
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Acrodysostosis 1 With Or Without Hormone Resistance
Dislocated radial head, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Brachyda... OMIM:101800
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Short fifth metatarsal, Short 3rd metacarpal, Broad 1st metacarpal, Short metatarsa... ORPHA:79443
Tremor OMIM:231950
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Papilledema, Hypocalcemic tetany, Cortical thickening of long bone diaphys... ORPHA:93325
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Flared iliac wing, Chorioretinal hypopigmentation, Neutropenia, Thrombocytopen... OMIM:617303
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short... OMIM:607143
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Bradykinesia, Parkinsonism, Elevated circulating creatine ... OMIM:612953
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Hypermanganesemia With Dystonia 1
Dystonia, Increased total iron binding capacity, Tremor, Rigidity, Spastic paraparesis, Abnormali... OMIM:613280
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased transferrin saturation, Increased serum i... ORPHA:300298
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Achilles tendon calcification, Hypercalcemia, Hyperphosphatemia, Metacarpal periosteal thickening OMIM:617994
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypertonia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Cerebr... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypertonia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Cerebr... ORPHA:529799
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Hypoalbuminemia, Ane... ORPHA:292
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration OMIM:614018
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Reticulocytosis, Hypoalbuminemia, Anemia, Upper motor neuron dysfunction, Abnormal circulating ap... ORPHA:14
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Immunodeficiency 19
Lymphopenia OMIM:615617
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Glut1 Deficiency Syndrome 2
Dystonia, Tremor, Reticulocytosis, Ataxia, Choreoathetosis OMIM:612126
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hyperphenylalaninemia, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Fibronectin Glomerulopathy
Pedal edema, Hypoalbuminemia ORPHA:84090
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Hypophosphatemia, Enlargement of the ankles, Metaphyseal irregularity, Difficu... OMIM:600081
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Ataxia, Spasticity OMIM:615889
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Spasticity OMIM:240800
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Aplasia/Hypoplasia of the fovea, Toe syndactyly, Talipes, Genu recurvatum, Shor... ORPHA:2611
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Macular dystrophy, Ataxia, Abnormality of the optic nerve, Optic atrophy, Rig... ORPHA:33445
Sanjad-Sakati Syndrome
Hypocalcemia, Small hand, Short foot, Micrognathia, Hyperphosphatemia ORPHA:2323
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Triphalangeal thumb, Pure red ... ORPHA:124
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Hypoalbuminemia OMIM:618347
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Lethargy, Chorea, Neutropenia, Thrombocytopenia, Hemiplegia/hemiparesis, Anemia, Hypera... ORPHA:289916
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Diamond-Blackfan Anemia 7
Neutropenia, Short thumb, Increased mean corpuscular volume, Triphalangeal thumb, Macrocytic anemia OMIM:612562
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Peroxisome Biogenesis Disorder 5B
Tremor, Elevated levels of phytanic acid, Oculomotor apraxia, Ataxia, Retinal dystrophy, Unsteady... OMIM:614867
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Inability to walk, Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation,... ORPHA:356961
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess, Bowing of the legs ORPHA:89937
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Short toe, Short metatarsal, Short phalanx of finger, Absent/hypoplastic paranasal ... ORPHA:280651
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Clubbing of fingers, Hypoproteinemia, Thrombocytosis, Hypoalbuminemia, Cl... OMIM:226300
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Tremor, Acute hyperammonemia, Hypertriglyceridem... ORPHA:247585
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Angioid streaks of the fundus, Hyperphosphatemia OMIM:211900
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Stuve-Wiedemann Syndrome
Short phalanx of finger, Micrognathia, Femoral bowing, Thickened cortex of long bones, Short long... OMIM:601559
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Unsteady gait,... OMIM:617435
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Elevated circulating creatine kinase concentration, Limb fasciculation... ORPHA:90117
Autosomal Dominant Hypocalcemia
Cortical myoclonus, Hypocalcemia, Writer's cramp, Hypomagnesemia, Optic atrophy, Hyperphosphatemia ORPHA:428
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Hyporeflexia of lower limbs, Progressive cerebellar ataxia, Myo... ORPHA:98763
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hemipare... ORPHA:444463
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Hypochromic microcytic anemia, Sideroblastic anemia, Dysmetria, Intention tre... OMIM:301310
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Pes cavus, Babinski sign, Dysmetria OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Pes cavus, Dysmetria, Sp... OMIM:213200
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... ORPHA:540
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Ataxia, Decreased LDL cholesterol concentration, Acanthocytosis, Rod-cone d... OMIM:615558
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Hammertoe, Pes cavus, Babinski sign, Steppage gait, Optic atrophy, Spasticity OMIM:609260
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia, Ataxia OMIM:616949
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:760
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Partial duplication of thumb phalanx, Clinodactyly, Hypoalbuminemia, Microg... OMIM:616730
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Hip dysplasia, Tremor, Spastic paraparesis, Difficulty walking, Gait disturban... ORPHA:101077
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Splenomegaly, Talipes equinovarus, Frequent falls, Spasticity OMIM:616719
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Hypophosphatemia, Enlargement of the ankles, Metaphyseal irregularity, Difficu... OMIM:241530
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Pedal edema, Hypoalbuminemia ORPHA:90362
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Ataxia, Decreased hemoglobin conce... ORPHA:713
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc... OMIM:609628
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Mildly elevat... ORPHA:401768
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoglycemia, Thrombocytopenia, Hypoalbuminemia, Splenomegaly OMIM:251880
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Dystonia, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Cho... OMIM:612716
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Hypophosphatemia, Fibular bowing, Subperiosteal bone resorption, Enlargement o... OMIM:264700
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Leg muscle stiffness, Abnormal pyramidal sign... ORPHA:391411
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Hyperphosphatemia ORPHA:280062
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Difficulty walking, Neutropenia, Pes cavus, Elevated circulating creatine kina... OMIM:251900
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
16Q24.3 Microdeletion Syndrome
Hip dysplasia, Thrombocytopenia, Optic nerve hypoplasia, Increased mean corpuscular volume, Proxi... ORPHA:261250
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Choreoathetosis, Tremor, Hyperphenylalaninemia, Hypertonia, Ataxia, Bradykinesia, Parki... OMIM:261640
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Anemia, Increased serum iron OMIM:604250
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hemato... ORPHA:231222
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Hypophosphatemia, Fibular bowing, Subperiosteal bone resorption, Enlargement o... OMIM:277440
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Micrognathia, Hypoglycemia ORPHA:446
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Hypoglycemia, Spastic tetraplegia, Hypoalbuminemia, Myoclonus, Elevated ci... OMIM:619055
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of retinal pigmentation, Gait disturbance, Hype... ORPHA:96
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Urocanic Aciduria
Abnormal circulating histidine concentration, Gait ataxia, Truncal ataxia, Ataxia, Action tremor,... ORPHA:210128
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Hypoargininemia, Abnormal circulating threonine con... ORPHA:79096
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Hyperactivity, Optic atrophy, Spasticity OMIM:300983
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketo... ORPHA:276608
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Retinal coloboma, Camptodactyly, Short tibia OMIM:258865
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Choreoathetosis, Tremor, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, L... OMIM:606159
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Pes cavus, Babinski sign, Clonus OMIM:600363
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Small hand, Dysmetria, Short foot, Short palm OMIM:610185
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Optic atrophy OMIM:614947
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Hypophosphatemia, Gait disturbance, Abnormal pyramidal sign, Hypokalemia, Type I diabetes mellitu... ORPHA:213
Avian Influenza
Lymphopenia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hypoalbumin... ORPHA:454836
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Microcephalic Primordial Dwarfism, Toriello Type
Short proximal phalanx of thumb, Short middle phalanx of finger, Short proximal phalanx of hallux... OMIM:251190
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Genu valgum, Hypophosphatemic rickets, Glycosuria OMIM:618913
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Gabriele-De Vries Syndrome
Dystonia, Tremor, Waddling gait, Long fingers OMIM:617557
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Hypopho... OMIM:300554
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Genu valgum, Abnormality of iron homeostasis, Decreased mean corpu... ORPHA:231226
Juvenile Polyposis Syndrome
Clubbing, Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Clubbing of fingers, Metaphyseal chondrodysplasia, Bowing of the long bones, Me... OMIM:156400
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Hypophosphatemic Bone Disease
Hypophosphatemia, Bowing of the legs OMIM:146350
Congenital Disorder Of Glycosylation, Type Ie
Tremor, Abnormal macular morphology, Upper limb undergrowth, Micrognathia, Camptodactyly, Short p... OMIM:608799
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Abnormality of the tarsal bones, Gait disturbance, Abnormal pelvi... ORPHA:352540
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Hypoproteinemia, Lymphopenia, Clinodactyly of the 5th finger ORPHA:1116
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Thrombocytopenia, Myoclonus, Intention tremor OMIM:254900
Beta-Thalassemia Major
Hypochromic microcytic anemia, Genu valgum, Abnormality of iron homeostasis, Decreased mean corpu... ORPHA:231214
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Genu valgum, Gait disturbance, Coarse metaphyseal trabecularizati... ORPHA:93160
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia, Liver abscess ORPHA:67
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Xeroderma Pigmentosum, Complementation Group G
Tremor, Pes cavus, Ataxia, Spasticity OMIM:278780
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide lev... ORPHA:157215
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal hip bone morphology, Hyperphosphatemia ORPHA:457059
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia OMIM:232700
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Pes cavus, Myoclonus OMIM:612016
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Increased circulating metamyelocyte ... ORPHA:36234
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Hyperammonemia, Optic at... ORPHA:79312
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Hypoglycemia, Hyperalaninemia, Optic atrophy, Spasticity OMIM:614702
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Ataxia, Pes cavus, Optic atrophy ORPHA:99014
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Tremor, Myoclonus OMIM:608105
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Sandal gap, Abnormality of the metacarpal bones, Micrognathia, Po... ORPHA:1106
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Absent Achilles reflex, Apraxia, Extrapyramidal muscular rigidity, Pes planus,... ORPHA:93952
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Insulin resistance, Poor motor coordination, Abnormal pyra... ORPHA:363400
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Pes cavus, Tremor, Ataxia ORPHA:101075
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Myoclonus, Optic atrophy, Choreo... ORPHA:391417
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Unsteady... ORPHA:397946
Eiken Syndrome
Short toe, Short phalanx of finger, Metaphyseal irregularity, Short foot, Fibular hypoplasia, Abs... ORPHA:79106
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiatrophy, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Absent Achilles reflex, Hand tremor, Difficulty walking, Paraparesis, Gai... OMIM:302800
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Leukodystrophy, Hypomyelinating, 6
Dystonia, Tremor, Rigidity, Ataxia, Optic atrophy, Choreoathetosis, Spasticity OMIM:612438
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Ataxia, Hypocholesterolemia, Hypoalbuminemia, Rod-cone dystrophy OMIM:212065
Dent Disease 1
Hypophosphatemia, Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Glycosu... OMIM:300009
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Lethargy, Ataxia, Thrombocytopenia, Elevated circulating creatine kinase concentrat... ORPHA:466650
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Dysmetria, Optic atrophy, Spasticity OMIM:617810
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Clubbing, Hypoalbuminemia OMIM:614441
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy, Choreoathetosis, Tremor, Hyperphenylalaninemia, Hyperkinetic movements, Limb ... OMIM:233910
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Enlargement of the ankles, Subperiosteal bone resorption, Difficu... ORPHA:289157
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Pedal edema, Hypoglycemia, Thromb... ORPHA:88673
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Optic atrophy, Diabete... OMIM:598500
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Bradykinesia, Parkinsonism, Optic atrophy, Rigidity ORPHA:329284
Wolfram Syndrome 1
Tremor, Pigmentary retinopathy, Megaloblastic anemia, Ataxia, Sideroblastic anemia, Thrombocytope... OMIM:222300
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Dystonia, Elliptocytosis, Reticulocytosis, Anisocytosis, Tetraplegia, D... OMIM:618278
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Talipes cavus equinovarus, Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar atax... ORPHA:139485
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Pedal edema, Hypoalbuminemia, Increased alpha-globulin, Hy... ORPHA:86816
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Pes cavus, Abnormal foot morphology, Ankle flexion contracture OMIM:616668
Talipes equinovarus, Tremor, Cystathioninemia ORPHA:212
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, B... ORPHA:2088
Galloway-Mowat Syndrome 1
Dystonia, Micrognathia, Camptodactyly, Ataxia, Spastic tetraplegia, Hypoalbuminemia, Slender fing... OMIM:251300
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Camptodactyly, Hypoplastic iliac wing, Short foot, Cutaneous finger syndactyly, Small hand, Hypoa... OMIM:235510
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Parkinsonism, Dysmetria, Babinski sign OMIM:618093
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Gait disturbance, Hypertonia, Type I diabetes mellitus, Anemia ORPHA:1192
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Pes planus, Hypermethioninemia, Abnormal circula... ORPHA:88618
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Abnormality of retinal pigmentation, Thrombocytopenia, Hypoalbuminemia, Anemia... ORPHA:505248
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Hypertonia, Tremor, Neutropenia OMIM:617248
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Waddling gait, Myocl... ORPHA:2590
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thromboc... OMIM:613179
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Pes cavus, Tremor, Ataxia ORPHA:101078
Lymphangiectasia, Intestinal
Lymphopenia, Pedal edema, Neonatal hypoproteinemia OMIM:152800
Tremor, Gait disturbance, Lymphopenia, Ataxia, Type II diabetes mellitus, Diabetes mellitus, Spas... ORPHA:100
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Pes cavus, Babinski sign, Micrognathia, Choreoathetos... OMIM:300055
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Clinodactyly, Syndactyly, Pes cavus, Myoclonus, Stereoty... OMIM:619092
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Abnormality of the lower limb OMIM:193100
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Unsteady gait, Myoclo... ORPHA:79263
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Tremor ORPHA:79234
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Femoral-Facial Syndrome
Hip dysplasia, Maternal diabetes, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, ... ORPHA:1988
Hypophosphatemia, Squared iliac bones, Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, H... OMIM:258480
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls OMIM:159950
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Spasticity, Hypoglycemia, Abnormal circulating leucine concentration ORPHA:6
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Truncal ataxia, Clumsiness, Leg muscle stiffness, Spastic ataxia, Difficulty walking, Hyp... ORPHA:137898
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Gait disturbance, Toe walking, Abnormal... ORPHA:83629
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Maturity-onset diabetes of the young, Tremor, Hyperphenylalaninemia, Abnormal circulating neopter... ORPHA:1578
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Gait ataxia, Tremor, Talipes, Dysmetria, Hand clenching, Talipes equ... OMIM:617988
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria OMIM:613388
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Leukopenia, Athetosis OMIM:229050
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Oculogyric crisis, Optic atrophy ORPHA:330050
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Tremor, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Metaphyseal irregularity, Calcinosis, Hypercalcemia, Anemia, Splenomegaly OMIM:239200
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia, Elevated alpha-fetoprotein OMIM:617243
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Abnormality of extrapyramidal motor function, Hyperactivity, Rigidity, Spasticity, Akin... OMIM:234200
T lymphocytopenia, Dystonia, Tremor, Glucose intolerance, Decreased proportion of CD4-positive he... OMIM:208900
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Chorea, Lymphopenia, Hemolytic anemia OMIM:616744
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria, Macrocytic anemia OMIM:615578
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Calf muscle hypertrophy OMIM:313200
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Mitten deformity, Decreased serum iron, Decreased serum zinc, Hypoalb... ORPHA:89842
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Ataxia, Brady... OMIM:615157
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Micromelia, Sho... OMIM:250215
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Limited knee extension, Pes planus, Poor fine motor coordination, Ataxia,... ORPHA:36387
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Gait ... OMIM:618120
Classic Galactosemia
Postural tremor, Dystonia, Lethargy, Clumsiness, Incoordination, Speech apraxia, Gait disturbance... ORPHA:79239
Galloway-Mowat Syndrome 3
Camptodactyly, Hypoalbuminemia, Hip dislocation, Micrognathia, Arachnodactyly, Spasticity OMIM:617729
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Limb ataxia, Oculomotor apraxia, Bradykinesia, Action tremor... OMIM:183090
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Choreoathetosis, Tremor, Hypertonia, He... OMIM:618877
Juvenile Polyposis Of Infancy
Clubbing of fingers, Broad thumb, Midclavicular hypoplasia, Hypoalbuminemia, Anemia, Refractory a... ORPHA:79076
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Abnormal digit morphology, Neutropenia, Hypoplas... OMIM:614900
Methylmalonic Aciduria, Cbla Type
Tremor, Lethargy, Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic aci... OMIM:251100
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Anemia ORPHA:85443
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of coordination, Gait disturbance, Hypertonia, ... ORPHA:352649
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Wadd... OMIM:602111
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Hypoalbuminemia ORPHA:367
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Glycosuria OMIM:308990
X-Linked Hypophosphatemia
Hypophosphatemia, Genu valgum, Sacroiliac joint synovitis, Flared iliac wing, Abnormality of epip... ORPHA:89936
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Pes cavus, Myoclonus, Dysmetria, Intention tremor, Babin... OMIM:616505
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Thrombocytopenia, Clinodactyly o... ORPHA:3320