Gene Summary

Name:
IQ motif containing E
Synonyms:
1700028P05Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B 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
phenotypes
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
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... OMIM:160120
Optic Atrophy 2
Dysdiadochokinesis, Babinski sign, Optic atrophy, Tremor, Absent Achilles reflex OMIM:311050
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Pes cavus, Elevated circulating creatine kinase concentration, Hammertoe... OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Pes cavus, Hypoalbuminemia, Hypercholesterolemia, Steppage gait OMIM:607250
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Pseudohypoparathyroidism Type 2
Hypocalcemia, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic tetany, Hyperphosphatemia, Hypoc... ORPHA:94090
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... OMIM:620044
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Pes cavus, Spastic dysarthria, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb m... ORPHA:94124
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Pes cavus, Elevated circulating creatine kinase concentr... OMIM:208920
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:615234
Pseudohypoparathyroidism, Type Ib
Brachydactyly, Hypocalcemia, Hyperphosphatemia, Short metacarpal OMIM:603233
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombocytopenia, Abnorma... ORPHA:93323
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Metaphyseal chondrodysplasia OMIM:300660
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... ORPHA:64753
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra... ORPHA:2760
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Neuronopathy, Distal Hereditary Motor, Type Viia
Pes cavus, Tremor, Difficulty walking, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Abnormal foot morphology, Mildly elevated creatine kinase OMIM:614369
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... OMIM:209950
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... OMIM:616860
Hypoparathyroidism, Familial Isolated, 1
Chvostek sign, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Immunodeficiency 40
Lymphopenia OMIM:616433
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Pes cavus, Rigidity, Tremor, Gait ataxia OMIM:617018
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor, Pes cavus, Palmoplantar hyperkeratosis OMIM:309560
Alg6-Cdg
Ataxia, Retinal degeneration, Shortening of all distal phalanges of the fingers, Rod-cone dystrop... ORPHA:79320
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Hemophagocytosis, S... OMIM:267700
Malignant Hyperthermia, Susceptibility To, 3
Hypertonia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hand tremor, Abnormal C-peptide level, ... ORPHA:79299
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Immunodeficiency 8
Lymphopenia OMIM:615401
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Glutathione Synthetase Deficiency
Ataxia, Intention tremor, Pigmentary retinopathy, Hemolytic anemia, Neutropenia, Spastic tetrapar... OMIM:266130
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Hyper... OMIM:277410
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Retinal hemorrha... ORPHA:86839
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Decreas... OMIM:616959
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Talipes equinovarus... OMIM:128230
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Lower limb hypertonia, Hypomethioninemia, Syndact... ORPHA:2169
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptoglobin level, Retic... OMIM:612126
Malignant Hyperthermia, Susceptibility To, 1
Rigidity, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Hypophosphatemia, Metaphyseal cupping, Hypocalcemia, Flared metaphysis, Genu ... OMIM:619073
Aceruloplasminemia
Increased circulating ferritin concentration, Torticollis, Ataxia, Blepharospasm, Retinal degener... OMIM:604290
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Paget Disease Of Bone 5, Juvenile-Onset
Retinal degeneration, Hydroxyprolinemia, Retinopathy, Short humerus, Lateral femoral bowing, Hype... OMIM:239000
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Nephrotic Syndrome, Type 14
Ataxia, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Retinopathy, Abnormal pyramidal sign, Parkinsonism, Rigidity,... ORPHA:216873
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Papilledema, Abnormality of the medullary cavity of the long bones, Thickened corte... OMIM:127000
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Aceruloplasminemia
Increased circulating ferritin concentration, Ataxia, Retinal degeneration, Macular degeneration,... ORPHA:48818
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor OMIM:264070
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Rigidity, Hemolytic anemia, Tremor, Dystonia OMIM:615010
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Pseudohypoparathyroidism, Type Ia
Short toe, Brachydactyly, Hypocalcemic tetany, Hyperphosphatemia, Short metatarsal, Short metacar... OMIM:103580
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... ORPHA:507
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Pes cavus, Elevated circulating creatine kinase concentration, Hammertoe, Trem... OMIM:618387
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic tetany, Hy... ORPHA:94089
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Micrognathia, Macrocytic anemia, ... OMIM:612561
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Microcytic anemia, Hypoalbuminemia OMIM:618805
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Hemophagocytosis, S... OMIM:603553
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Optic at... OMIM:270500
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Proximal femoral epiphysiolysis, Pancytopenia, Leukemia, Incr... ORPHA:811
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Small hand, Micrognathia, Hyperphosphatemia, Short foot, Short palm, Hypocalcemic s... OMIM:241410
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Talipes equinovarus, Bradykinesi... OMIM:260300
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Autoimmune Hypoparathyroidism
Hypocalcemia, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic tetany, Hyperphosphatemia, Hypoc... ORPHA:36913
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Myopathy, Spheroid Body
Broad-based gait, Elevated circulating creatine kinase concentration, Tremor, Waddling gait, Abse... OMIM:182920
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia,... ORPHA:1667
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Hypocalcemic tetany, Hyperphosphatemia, Short metatarsal, Short metacarpal OMIM:612462
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Optic atrophy, Tremor, Progressive spasticity, Gait disturbance... OMIM:210000
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Pes cavus, Babinski sign, Myoclonus, Frequent falls, Tremor, Gait ataxia, Spasticity, Fas... OMIM:607317
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Ankle clonus, Babinski sign... OMIM:159550
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Pes cavus, Babinski sign, Spastic dysarthria, Spastic pa... ORPHA:251282
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Extrapyramidal muscular rigidity, Oculogyric crisis, ... ORPHA:94093
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal ... OMIM:213600
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Myoclonus, Hypoglycemia, Unsteady gait, Anemia OMIM:610090
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu... ORPHA:276435
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Hypophosphatemia, Renal, With Intracerebral Calcifications
Short distal phalanx of finger, Renal hypophosphatemia OMIM:241519
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia OMIM:619013
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Macular degeneration, Dysmetria, Babinski sign, Pigmentary retinop... OMIM:164500
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... ORPHA:2070
Epilepsy, Progressive Myoclonic, 6
Ataxia, Loss of ambulation, Pes cavus, Elevated circulating creatine kinase concentration, Myoclo... OMIM:614018
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tremor, Spasticit... OMIM:615924
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Acrodysostosis 1 With Or Without Hormone Resistance
Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Hypoplas... OMIM:101800
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Hypocalcemia, Laryngeal dystonia, Brachydactyly, Myoclonic spasms, Short ... ORPHA:79444
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Pseudohypoparathyroidism Type 1A
Short fifth metatarsal, Hypocalcemia, Laryngeal dystonia, Brachydactyly, Myoclonic spasms, Short ... ORPHA:79443
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, P... ORPHA:93325
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia... OMIM:607143
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Polycythemia, Abnormality of ext... OMIM:613280
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Flared iliac wing, Splenomegaly, Metaphyseal widening, Leukopenia, Chorioretin... OMIM:617303
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Immunodeficiency 19
Lymphopenia OMIM:615617
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... OMIM:307800
Galloway-Mowat Syndrome 6
Motor stereotypy, Clinodactyly of the 5th finger, Hypoalbuminemia OMIM:618347
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... ORPHA:363710
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Abn... ORPHA:2298
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Rod-cone dystrophy, Intention tremor, Pigmentary retinopathy, Hemiparesis, Tremor, Elevat... OMIM:614307
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... OMIM:600081
Chronic Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbilir... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbilir... ORPHA:529799
Genetic Recurrent Myoglobinuria
Hypocalcemia, Difficulty walking, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Metacarpal periosteal thickening, Achilles tendon calcification, Hyperphosphatemia, Hypercalcemia OMIM:617994
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... ORPHA:292
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Abetalipoproteinemia
Ataxia, Babinski sign, Reticulocytosis, Hypopigmentation of the fundus, Broad-based gait, Abnorma... ORPHA:14
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia, Spasticity OMIM:240800
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Triphalangeal thumb, Neutropenia, Short thumb OMIM:612562
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Congenital Disorder Of Glycosylation, Type Ih
Talipes equinovarus, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemi... OMIM:608104
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia OMIM:246700
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Genu recurvatum, Aplasia/Hypoplasia of the fovea, Retinopathy, Talipes, Short m... ORPHA:2611
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Small hand, Ankle clonus, Abnormal pyramidal sign, Tremor, Short foot, ... OMIM:617435
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Peroxisome Biogenesis Disorder 5B
Ataxia, Rod-cone dystrophy, Dysmetria, Pes cavus, Retinal dystrophy, Tremor, Elevated levels of p... OMIM:614867
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Fibronectin Glomerulopathy
Pedal edema, Hypoalbuminemia ORPHA:84090
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Rigidity, Optic atrophy, Tremor, Aplasia/Hypoplasia of the macula, Spasticity... ORPHA:33445
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Clubbing of fingers, Cl... OMIM:226300
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Hyporeflexia of lower limbs, Rigidity, Tre... ORPHA:98763
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Sanjad-Sakati Syndrome
Hypocalcemia, Small hand, Micrognathia, Hyperphosphatemia, Short foot ORPHA:2323
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Limb ataxia, Dysmetria, Pes cavus, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoor... OMIM:213200
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Pes cavus, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hyperphenylalaninemia, Dystonia OMIM:261630
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia, Tooth abscess ORPHA:89937
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt... OMIM:611590
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemiparesis, Hemolytic anemia, Autoimmune... ORPHA:444463
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Elevated circulating creatine kinase concentration, Limb fasciculations, Tremo... ORPHA:90117
Slc35A2-Cdg
Inability to walk, Talipes equinovarus, Increased circulating thyroglobulin level, Short tibia, A... ORPHA:356961
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Ataxia, Dystonia OMIM:616113
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... ORPHA:64743
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Hyponatremia, Neutropenia OMIM:616949
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus OMIM:211900
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Talipes equinovarus, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Tibial bowing, Delayed epip... OMIM:241530
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Absent thumb, Persistence of hemoglobin F, Microg... ORPHA:124
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Optic atrophy, Tremor, Unsteady gait, Incoordination OMIM:614947
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... OMIM:604250
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Pes cavus, Gait disturbance, Tremor, Difficulty walking, ... ORPHA:101077
Aicardi-Goutieres Syndrome 9
Hypertonia, Lower limb hypertonia, Chorioretinal atrophy, Hepatosplenomegaly, Spastic diplegia, H... OMIM:619487
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Pes cavus, Babinski sign, Hammertoe, Optic atrophy, Tremor, Spasticity, Steppage gait OMIM:609260
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... ORPHA:401768
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... ORPHA:540
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... OMIM:264700
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... OMIM:617013
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Splenomegaly, Hypoglycemia, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Pes cavus, Abnormal pyramidal sign, Ri... ORPHA:391411
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Pes cavus, Elevated circulating creatine kinase concentration, Optic atrophy, Difficulty walking,... OMIM:251900
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Micrognathia, Hypoglycemia, Increased serum iron ORPHA:446
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Hyperbilirubinemia, Decreased hemoglobin concentration, Retinal dystrophy, Hemolytic anem... ORPHA:713
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Dysmetria, Pes c... ORPHA:96
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Abnormal circulating histidine concentra... ORPHA:210128
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Wilson Disease
Parkinsonism with favorable response to dopaminergic medication, Increased circulating copper con... OMIM:277900
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Small hand, Hand apraxia, Pill-rolling tremor, Stereotypic... ORPHA:3095
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Hyperammonemia, Chorea, Optic atrophy, Choreoathetosis, Neutropenia, Anem... ORPHA:289916
Nephrotic Syndrome, Type 11
Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Clinodactyly, Hypoalbuminemia... OMIM:616730
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating tyrosine concentration, Hypertonia, Myoclonus, Hypoargininemia, Abnormal cir... ORPHA:79096
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Cystinosis
Motor stereotypy, Hypophosphatemia, Hypokalemia, Retinopathy, Abnormal pyramidal sign, Gait distu... ORPHA:213
Calciphylaxis
Hyperphosphatemia ORPHA:280062
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Micrognathia, Optic nerve hypoplasia, Proximal placement of th... ORPHA:261250
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Cortical myoclonus, Optic atrophy, Writer's cramp, Hyperphosphatemia ORPHA:428
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Hyperlysinemia, Hypervalinemia, Clumsiness, Leukocyto... OMIM:615673
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Hyperphenylala... OMIM:261640
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Small hand, Dysdiadochokinesis, Truncal ataxia, Tremor, Short foot, Short palm OMIM:610185
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Hsd10 Mitochondrial Disease
Retinal degeneration, Elevated circulating tiglylglycine concentration, Optic atrophy, Hypoglycem... OMIM:300438
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... OMIM:277440
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Hypoglycemia, Progressive cerebellar ataxia, Dystonia ORPHA:67046
Acrodysostosis With Multiple Hormone Resistance
Short toe, Hypocalcemia, Hypoplastic vertebral bodies, Absent/hypoplastic paranasal sinuses, Cone... ORPHA:280651
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, ... OMIM:619405
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Spastic Paraplegia 6, Autosomal Dominant
Pes cavus, Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Alg12-Cdg
Clinodactyly of the 5th finger, Talipes equinovarus, Micrognathia, Overlapping fingers, Retinal d... ORPHA:79324
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... OMIM:612736
Neurodegeneration With Brain Iron Accumulation 3
Decreased circulating ferritin concentration, Ataxia, Blepharospasm, Laryngeal dystonia, Bradykin... OMIM:606159
Orofaciodigital Syndrome Ix
Retinal coloboma, Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Optic atrophy, Tremor, Spastic tetraparesis OMIM:619470
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Myoclonus, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypoalbuminemia, Spa... OMIM:619055
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Glycosuria, Genu valgum OMIM:618913
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Saccharopinuria
Hyperlysinemia, Hyperammonemia, Spastic diplegia, Tremor, Abnormality of circulating enzyme level... ORPHA:3124
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia OMIM:128235
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Purine Nucleoside Phosphorylase Deficiency
Hypertonia, Ataxia, Lymphopenia, Abnormal central motor function, Spastic paraparesis, Cerebral p... ORPHA:760
Metaphyseal Chondrodysplasia, Jansen Type
Clinodactyly of the 5th finger, Hypophosphatemia, Metaphyseal cupping, Short ribs, Micrognathia, ... OMIM:156400
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Ataxia, Splenomegaly, Small hand, Micrognathia, Retinopathy, Elevated ... OMIM:608799
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... ORPHA:37042
Hypophosphatemic Bone Disease
Bowing of the legs, Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, X-Linked Recessive
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Tibial bowing, Delayed epip... OMIM:300554
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Myoclonus, Rigidity, Athetosis, Optic atrophy, Hypoglycemia, Gait disturbance OMIM:618241
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Oncogenic Osteomalacia
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Hypocalcemia, Abnormality of fi... ORPHA:352540
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Pes cavus, Abnormal pyramidal sign, Myoclonus, Tremor OMIM:612016
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Postural tremor, Thrombocytopenia OMIM:254900
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Spasticity, Oculomotor apraxia,... OMIM:612716
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Genu varum, Gait disturbance, Genu ... ORPHA:93160
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Optic atrophy, Hypoglycemia, Hypoalbuminemia, Spasticity, Hypera... OMIM:618329
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess ORPHA:67
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Hypophosphatemic rickets, Hypophosphatemia, Waddling gait, Increased circulat... ORPHA:157215
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Retinal degeneration, Macular degeneration, Laryngeal... ORPHA:99
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Rod-cone dystrophy, Dysmetria, Intention tremor, Thrombocytosis, Hypocholesterolemia, Tre... OMIM:212065
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia, Clubbing OMIM:174900
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating copper concentration, Palmoplantar keratoderma, Decreased ... OMIM:242150
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia, Abnormal hip bone morphology ORPHA:457059
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Pes cavus, Ataxia ORPHA:101075
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Pes cavus, Optic atrophy, Tremor, Gait disturbance ORPHA:99014
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tremor, Gait disturbance, Choreo... ORPHA:391417
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Abscess, Elevated circulating creatine kinas... ORPHA:36234
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Dysmetria, Hand tremor, Tip-toe gait, Pes cavus, Babinski sign, Frequent falls, Trem... OMIM:302800
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Hepatocellular Carcinoma
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Polycythemia, Hypoglycemia, Thrombocy... ORPHA:88673
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... ORPHA:2590
Microphthalmia With Limb Anomalies
Optic atrophy, Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th fin... ORPHA:1106
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... OMIM:251230
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Xeroderma Pigmentosum, Complementation Group G
Tremor, Pes cavus, Spasticity, Ataxia OMIM:278780
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Pes cavus, Truncal ataxia, Gait disturbance, Tremor, Difficul... ORPHA:98764
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Dent Disease 1
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... OMIM:300009
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Optic atrophy, Tremor, Difficulty walking, Dystonia ORPHA:330050
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, ... ORPHA:289157
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Sideroblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia, Diabete... OMIM:598500
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperinsulinemia, Insulin resistance, Myoclonus, Abnormal pyramidal sign, Tetraparesis, H... ORPHA:363400
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... ORPHA:88618
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... OMIM:618049
Parkinson Disease 14, Autosomal Recessive
Loss of ambulation, Axial dystonia, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle ... OMIM:612953
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Dysmetria, Optic atrophy, Tremor, Gait ataxia, Spasticity, Apraxia OMIM:617810
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Talipes cavus equinova... ORPHA:139485
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Small hand, Micrognathia, Pes cavus, Babinski sign, Parkins... OMIM:300055
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Pes cavus, Ataxia ORPHA:101078
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Gait disturbance, Tremor, Type I diabetes mellitus, Anemia ORPHA:1192
Systemic Lupus Erythematosus 17
Optic neuritis, Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Chorea, Thrombocytopenia OMIM:301080
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Rod-cone dystrophy, Dysmetria, Limb hypertonia, Athetosis, Optic atrophy, Tre... OMIM:617710
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypophosphatemia, Glycosuria, Impaired glucose tolerance, Hypertrigly... ORPHA:2088
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Talipes equinovarus, Elevated circula... OMIM:619743
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia, Clubbing OMIM:614441
Exercise-Induced Malignant Hyperthermia
Ataxia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Thro... ORPHA:466650
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Galloway-Mowat Syndrome 1
Ataxia, Talipes equinovarus, Slender finger, Micrognathia, Pes cavus, Camptodactyly, Optic atroph... OMIM:251300
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Myoclonus, Hem... OMIM:618278
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increase... OMIM:613179
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Clinodactyly of the 5th finger, Retinopathy, Pes cavus, Optic atrophy, Tremor, Choreoathe... OMIM:619422
Ataxia-Telangiectasia
Ataxia, Type II diabetes mellitus, Lymphopenia, Gait disturbance, Tremor, Spasticity, Diabetes me... ORPHA:100
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia ORPHA:79234
Wolfram Syndrome 1
Megaloblastic anemia, Ataxia, Limited mobility of proximal interphalangeal joint, Pigmentary reti... OMIM:222300
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Pedal edema, Hypoalbuminemia, Hypercho... ORPHA:86816
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Subacute Inflammatory Demyelinating Polyneuropathy
Abnormality of the calf musculature, Limitation of movement at ankles, Leukocytosis, Absent patel... ORPHA:206594
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Hemiatrophy, Tremor, Difficulty walking, Dystonia ORPHA:306669
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Arachnodactyly, Pes cavus, Myoclonus, Syndactyly, Tremor, G... OMIM:619092
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Abnormality of the lower limb OMIM:193100
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... ORPHA:240085
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... ORPHA:137898
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Pedal edema, Lymphopenia OMIM:152800
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Elevated circulating creatinine concentration, Hyperphosphatemia, Anemia, Thrombocy... ORPHA:340
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Ataxia-Telangiectasia
Glucose intolerance, Ataxia, Inability to walk, Lymphopenia, Progressive cerebellar ataxia, Eleva... OMIM:208900
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Inability to walk, Leukopenia, Hepatosplenomegaly, Optic atr... ORPHA:505248
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Mater... ORPHA:1988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Pigmentary retinopathy OMIM:619473
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Hyperphenylalaninemia... OMIM:233910
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Spasticity, Hyperammonemia ORPHA:6
Cystathioninuria
Tremor, Cystathioninemia, Talipes equinovarus ORPHA:212
3-Methylglutaconic Aciduria, Type Viii
Tremor, Hypertonia, Dystonia, Neutropenia OMIM:617248
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria OMIM:613388
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Large knee, Tremor, Spastic paraplegia, Gait disturbance, Abnormalit... ORPHA:83629
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Bradykinesia, Poor fine motor coordination, Talipes valgus, Tremor, Pes planus, Incoordin... ORPHA:36387
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Abnormality of coordinat... ORPHA:352649
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walking, Tongue fasciculations OMIM:159950
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Retinal degeneration, Abnormality of extrapyramidal motor function, Babinski sign, Optic ... OMIM:234200
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Dopa-Responsive Dystonia
Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,... ORPHA:255
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria, Macrocytic anemia OMIM:615578
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Glycosuria, Hypoglycemia, Diabetes mellitus, Hypouricemia OMIM:616026
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Fasciculations, Elevated circulating creatine kinase concentration, Tremor OMIM:313200
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Ataxia, Loss of ambulation, Pes cavus, Elevated circulating creatine kina... OMIM:614298
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Optic atrophy, Tremor, Dystonia ORPHA:329284
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Hyperparathyroidism, Neonatal Severe
Metaphyseal irregularity, Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia OMIM:239200
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Hy... ORPHA:89842
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Congenital thrombocytopenia, Radioulnar synostosis, Neutropenia, Anemia, Thr... OMIM:616738
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... OMIM:614831
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... OMIM:619911
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Opsismodysplasia
Hypophosphatemia, Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Hypoplasti... OMIM:258480
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia, Chorea OMIM:616744
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy