Gene Summary

Name:
eukaryotic translation initiation factor 2B, subunit 5 epsilon
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased granulocyte number Eif2b5tm1a(EUCOMM)Wtsi HET   Early adult 2.24×10-07
increased circulating creatinine level Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 6.79×10-06
abnormal bone mineralization Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 1.93×10-06
decreased mean corpuscular volume Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 3.96×10-10
abnormal bone structure Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 8.35×10-06
increased bone mineral content Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 3.08×10-05
decreased circulating glucose level Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 4.95×10-06
decreased heart weight Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 3.66×10-05
decreased mean corpuscular hemoglobin concentration Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 4.01×10-07

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Eif2b5 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 Eif2b5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukoencephalopathy With Vanishing White Matter
Leukoencephalopathy, Unsteady gait, Spasticity, Cerebral hypomyelination, Gait disturbance, Glios... OMIM:603896

The table below shows human diseases predicted to be associated to Eif2b5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Paresthesia, Distal sensory impairment, Sensory ataxia OMIM:616491
Posterior Column Ataxia
Ataxia, Impaired proprioception, Impaired vibratory sensation OMIM:176250
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating motor neuropathy, Symmetrical progressive peripheral demyelination, Progressive gai... ORPHA:208981
Insensitivity To Pain With Hyperplastic Myelinopathy
Pain insensitivity, Abnormal peripheral myelination, Impaired tactile sensation OMIM:147530
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Myelin outfoldings, Clust... OMIM:607734
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... OMIM:606482
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:601098
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Peripheral demyelination, Spontaneous pain sensation, Segmental peri... ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... OMIM:606483
Optic Atrophy With Demyelinating Disease Of Cns
CNS demyelination, Peripheral demyelination, Ataxia, Optic atrophy OMIM:165200
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Peripheral demyelination, Decreased number of large peripheral myelinated nerve fibers, Sensory a... OMIM:614895
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Distal sensory impairment, Onion bulb formation OMIM:615185
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Pelizaeus-Merzbacher Disease
Cerebellar vermis atrophy, Spastic paraplegia, Microcephaly, Tremor, Cerebral dysmyelination, Sud... OMIM:312080
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:180800
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Distal sensory impairment, Onion bulb formation OMIM:616039
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Anemia, Abnormal hemoglobin, Thrombocytopenia, Abnormal cardiac sep... ORPHA:3319
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Axonal degeneration/... OMIM:607791
Leukodystrophy, Hypomyelinating, 13
Ataxia, Leukodystrophy, Failure to thrive, Spasticity, Clonus, Abnormal periventricular white mat... OMIM:616881
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Retinal dysplasia, Ataxia, Microcephaly, Cortical dysplasia, Polymicrogyria OMIM:615771
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Retinal degeneration, Ataxia, Gait ataxia, Microcephaly, Spasticity, Limb ata... OMIM:614322
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception ORPHA:231445
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity OMIM:608236
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo... OMIM:162500
Subacute Inflammatory Demyelinating Polyneuropathy
Axonal loss, Somatic sensory dysfunction, Peripheral demyelination, Choreoathetosis, Diffuse peri... ORPHA:206594
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Peripheral demyelination, Hypertrophic nerve changes, Myelin outfoldings, Onion bulb formation, D... OMIM:118200
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Peripher... OMIM:608673
Null Syndrome
Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy, Ataxia, Decre... ORPHA:280234
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Peripher... OMIM:608340
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Myelin outfoldings,... OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Axonal degener... OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f... OMIM:607731
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Cerebral atrophy, Inability to walk, Tetraplegia, Secondary microcephaly, Delayed myelination, Se... OMIM:618331
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Iron accumulation in globus pallidus, Cerebellar vermis atrophy, Inability to... OMIM:619389
Charcot-Marie-Tooth Disease Type 4G
Peripheral demyelination, Impaired vibratory sensation, Impaired tactile sensation, Impaired pain... ORPHA:99953
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Decreased nerve conduction velocity, Distal sensory impairment... OMIM:611228
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Chronic axonal neuropathy, Peripheral demyelination,... ORPHA:101097
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Sensory ataxia, Oni... OMIM:145900
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... OMIM:607080
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal tactile sensation, Onion bulb formation, Peripheral axonal neuropathy, Impaired d... OMIM:610100
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, Retinal dystrophy, Seizure, Optic atrophy OMIM:614706
Progressive Multifocal Leukoencephalopathy
Dysmetria, Somatic sensory dysfunction, Parkinsonism, Abnormal astrocyte morphology, Abnormal oli... ORPHA:217260
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Gait... ORPHA:497764
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Distal sensory impa... OMIM:609311
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Onion bulb formation... OMIM:311070
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating sensory neuropathy, Onion bulb formation, Demyelinating motor neuropathy OMIM:182815
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Distal sensory impairment, Peripheral demyelination, Decreased nerve conduction velocity ORPHA:99944
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Hypoplasia of t... ORPHA:401840
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration... OMIM:605588
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Peripheral demyelination, Gait ataxia, Distal sensory impairment, Positive Romberg sign, Optic at... OMIM:258650
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Agenesis of corpus callosum, Lower limb spasticity,... ORPHA:401820
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Ataxia, Gait ataxia, Short stature, Gliosis, Limb ataxia OMIM:213200
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Axonal degeneration, Decreased number of peripheral myelinat... OMIM:604484
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Decreased body weight, Peripheral demyelination, Ataxia, Chorea OMIM:617672
Developmental And Epileptic Encephalopathy 58
Inability to walk, Secondary microcephaly, Delayed myelination, Seizure, Optic atrophy, Status ep... OMIM:617830
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Obesity, Inability to walk, Lower limb spasticity, Ataxia, Seizure, Microcephal... OMIM:616756
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination, Ataxia OMIM:616684
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity OMIM:249900
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, CNS hypomyelination, Hypertrophic nerve changes, Axonal degenerat... OMIM:214400
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... OMIM:604563
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Retinal degeneration, Progressive microcephaly, Microcephaly, Rigidity, Spastic... OMIM:616211
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal sensory impairment, Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Bone Marrow Failure Syndrome 6
Osteopenia, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, ... OMIM:618849
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Spinocerebellar Ataxia 25
Impaired pain sensation, Ataxia, Abolished vibration sense, Decreased number of peripheral myelin... OMIM:608703
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration... OMIM:607706
Familial Infantile Bilateral Striatal Necrosis
Spastic tetraparesis, Basal ganglia cysts, Loss of ability to walk, Atrophy/Degeneration involvin... ORPHA:225154
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Peripheral demyelination, Ataxia, Axonal degeneration, Short stat... OMIM:604168
Multiple Mitochondrial Dysfunctions Syndrome 5
Microcephaly, Leukodystrophy, Pigmentary retinopathy, Spasticity, Pachygyria, Delayed myelination... OMIM:617613
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased sensory n... OMIM:609260
Pontocerebellar Hypoplasia, Type 2D
Cerebral atrophy, Cerebellar atrophy, Progressive microcephaly, Spastic tetraplegia, Clonus, Chor... OMIM:613811
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Decreased body weight, Progressive microcephaly, Athetosis, Demyelinating per... OMIM:614559
Hemimegalencephaly
Epileptic spasm, Focal cortical dysplasia, Atonic seizure, Focal tonic seizure, Hyperintensity of... ORPHA:99802
Autosomal Dominant Cerebellar Ataxia
Action tremor, Progressive cerebellar ataxia, Pigmentary retinopathy, Paraparesis, Macular degene... ORPHA:99
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Cerebellar atrophy, Inability to walk, Abnormal myelination, Seizure, Optic atrophy OMIM:618324
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Dysmetria, Retinal degeneration, Ataxia, Dysdiadochokinesis, Clumsiness, Seiz... OMIM:256731
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Somatic sensory dysfunction, Axonal degeneration/regeneration, Decreased number of peripheral mye... OMIM:600882
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ne... OMIM:601455
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Abnormal upper motor neuron morphology, Peripheral demyelination, Axonal loss OMIM:221770
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Peripheral demyelination, Ataxia, Failure to thrive, Gliosis, CNS demyelination OMIM:220111
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Microcephaly 10, Primary, Autosomal Recessive
CNS hypomyelination, Intrauterine growth retardation, Small for gestational age, Gliosis, Delayed... OMIM:615095
Spinocerebellar Ataxia Type 25
Impaired distal tactile sensation, Impaired pain sensation, Decreased number of large peripheral ... ORPHA:101111
Developmental And Epileptic Encephalopathy 14
Gliosis, Delayed myelination OMIM:614959
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Hand tremor, Agenesis of corpus callosum, Spastic dysarthria, Low... ORPHA:401830
Spinocerebellar Ataxia, Autosomal Recessive 27
Gliosis, Gait ataxia OMIM:618369
Huntington Disease
Gliosis, Chorea, Gait ataxia OMIM:143100
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Shuffling gait, Apraxia, Bradykinesia, Leukoencephalop... OMIM:221820
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Spastic paraplegia, Spasticity, Abnormal myelination, Babinski sign, Optic atr... ORPHA:431329
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Progressive cerebellar ataxia, Abnormal cerebellar peduncle morphology, Hypermyelinated retinal n... ORPHA:98
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Autosomal Recessive Spastic Paraplegia Type 15
Hypoplasia of the corpus callosum, Hand tremor, Impaired vibratory sensation, Retinal flecks, Upp... ORPHA:100996
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Distal sensory impairment, Onion bulb formation, Optic atrophy OMIM:615035
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Irregular mye... OMIM:601382
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Peripheral demyelination, Intrauterine growth retardation, Optic atrophy OMIM:618237
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Choreoathetosis, Ataxia, Microcephaly, Leukodystrophy, Rigidity, Spasticity, ... OMIM:612438
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Peripheral demyelination ORPHA:71211
Folinic Acid-Responsive Seizures
Spastic tetraparesis, Cerebellar atrophy, Atonic seizure, Generalized myoclonic seizure, Status e... ORPHA:79097
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Impaired proprioception, Sensory ataxia, Ataxia, Impaired vibration sen... OMIM:609033
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic tetraparesis, Dysmetria, Cerebellar atrophy, Hypoplasia of the corpus callosum, Thin corp... OMIM:612319
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Peripheral demyelination, Intrauterine growth retardation, Small fo... OMIM:616733
Krabbe Disease
Peripheral demyelination, Decreased nerve conduction velocity, Failure to thrive, CNS demyelinati... OMIM:245200
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Developmental And Epileptic Encephalopathy 16
Cerebral atrophy, Status epilepticus, Microcephaly, Hemiparesis, Secondary microcephaly, Delayed ... OMIM:615338
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... OMIM:241520
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Dysgyria, Type II lissencephaly, Abnormal myelination, Seizure, Optic atro... ORPHA:352682
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Progressive microcephaly, Multifocal seizures, Generalized myoclonic seizure, M... OMIM:614498
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Distal sensory impairment, Decrea... OMIM:607831
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Abnormal corpus callosum morphology, Retinal degeneration, Involuntary movement... ORPHA:442835
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Parkinsonism, Intention tremor, Apraxia, Bradykinesia, Ataxia, Gai... OMIM:607136
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination, Ataxia OMIM:200100
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormality of iron homeostasis, An... ORPHA:848
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Athetosis, Axonal loss OMIM:300857
Foxg1 Syndrome
Abnormal corpus callosum morphology, Decreased body weight, Choreoathetosis, Progressive microcep... ORPHA:561854
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Decre... ORPHA:90103
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Abnormal pyramidal sign, Cerebellar dysplasia, Atonic seizure, Generaliz... ORPHA:101070
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal at... ORPHA:98764
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
L-2-Hydroxyglutaric Aciduria
Spastic tetraparesis, Abnormal pyramidal sign, Cerebellar atrophy, Severe demyelination of the wh... OMIM:236792
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Atrial septal defect, Lymphopenia OMIM:614868
Spinocerebellar Ataxia 21
Cerebellar atrophy, Parkinsonism, Intention tremor, Ataxia, Akinesia, Cogwheel rigidity, Progress... OMIM:607454
Charcot-Marie-Tooth Disease Type 2B1
Axonal loss, Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fib... ORPHA:98856
Aceruloplasminemia
Parkinsonism, Retinal degeneration, Abnormal thalamic MRI signal intensity, Abnormality of retina... ORPHA:48818
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Short stepped shuffling gait, Resting tremor, Shuffling gait, Involuntar... ORPHA:391411
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Cerebral atrophy, Cerebellar atrophy, Involuntary movements, Inability to walk, Ataxia, Microceph... OMIM:617804
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebellar hypoplasia, Confluent hyperintensity of cerebral white matter on MRI, Inability to wal... ORPHA:280210
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Parkinsonism, Resting tremor, Shuffling gait, Intention tremor, Cerebellar cortical atrophy, Atax... ORPHA:247234
Tyrosinemia Type 1
Generalized aminoaciduria, Rickets of the lower limbs, Splenomegaly ORPHA:882
Galloway-Mowat Syndrome 5
Peripheral demyelination, Ataxia OMIM:617731
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Leukoencephalopathy With Vanishing White Matter
Leukoencephalopathy, Unsteady gait, Spasticity, Cerebral hypomyelination, Gait disturbance, Glios... OMIM:603896
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Somatic sensory dysfunction, Peripheral dysmyelination, Decreased n... ORPHA:101082
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Gliosis, Leukodystrophy, Ataxia, Symmetric peripheral demyelination OMIM:169500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Pontocerebellar Hypoplasia, Type 4
Cerebellar hypoplasia, Hypoplasia of the pons, Microcephaly, Loss of Purkinje cells in the cerebe... OMIM:225753
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia, Pathologi... OMIM:179800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, CNS hypomyelination, Ataxia, Leukodystrophy, Failure to thrive, Spasticity, H... OMIM:616494
Leigh Syndrome
Ataxia, Pigmentary retinopathy, Failure to thrive, Spasticity, Gliosis, Focal substantia nigra T2... OMIM:256000
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Frequent falls, Abnormality of th... ORPHA:157941
Developmental And Epileptic Encephalopathy 51
Abnormal pyramidal sign, Cerebellar atrophy, Inability to walk, Rod-cone dystrophy, Failure to th... OMIM:617339
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Abnormal corpus callosum morphology, Abnormality of the basal ganglia, Cerebe... ORPHA:543470
Trigeminal Neuralgia
Somatic sensory dysfunction, Peripheral demyelination, Paresthesia, Cranial nerve compression, CN... ORPHA:221091
Cerebrooculofacioskeletal Syndrome 1
Gliosis, Failure to thrive, Delayed myelination OMIM:214150
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Diffuse demyelination of the cerebral white matter, Abnormal astrocyte morpho... ORPHA:168486
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Tangier Disease
Peripheral demyelination, Impaired pain sensation, Impaired temperature sensation, Peripheral axo... OMIM:205400
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular vo... OMIM:611590
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Tooth abscess, Osteomalacia, Iron deficiency anemia, Hypophosphatemia, Rickets ORPHA:89937
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Tracheomalacia, Atrial septal defect, Ventricular hypertrophy, Increased mea... OMIM:612561
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Impaired distal tactile sensation, Impaired pain sensation, Decreased ... ORPHA:99948
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnorm... ORPHA:98773
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Involuntary movements, Status epilepticus, Ataxia, Microcephaly, Spasticity, Delayed myelination,... OMIM:615905
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Neurofibrillary tangles, Dysmetria, Cerebellar atrophy, Intention tremor, Brady... OMIM:610217
Leukodystrophy, Hypomyelinating, 15
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Inability to wal... OMIM:617951
Preeclampsia
Type I diabetes mellitus, Thrombocytopenia, Elevated circulating creatinine concentration ORPHA:275555
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Retinal dysplasia OMIM:615041
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Distal sensory impairment OMIM:604218
Spastic Ataxia, Charlevoix-Saguenay Type
Dysmetria, Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Im... OMIM:270550
Adducted Thumbs Syndrome
Cerebral dysmyelination, Myelin-dependent gliosis OMIM:201550
Corticobasal Syndrome
Somatic sensory dysfunction, Parkinsonism, Involuntary movements, Bradykinesia, Limb apraxia, Aki... ORPHA:454887
Lissencephaly 8
Microcephaly, Lissencephaly, Spasticity, Hypoplasia of the corpus callosum, Abnormal myelination,... OMIM:617255
Glutathione Synthetase Deficiency
Neutropenia, Increased level of L-pyroglutamic acid in urine, Hemolytic anemia OMIM:266130
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Osteopenia, Hypophosphatemia, Rickets OMIM:613388
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Motor Neuropathy, Peripheral, With Dysautonomia
Peripheral demyelination, Decreased nerve conduction velocity OMIM:252320
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Refractory Anemia
Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadequate prod... ORPHA:98826
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Distal sensory impairment, Onion bulb formation OMIM:614455
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Agenesis of corpus callosum, Hypoplastic hippocampus, Partial agenesis of the c... ORPHA:85179
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Bradykinesia, Spastic paraplegia, Ataxia, Akinesia, Seizure, Paraparesi... OMIM:606693
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Charcot-Marie-Tooth Disease, Type 4B3
Distal sensory impairment, Onion bulb formation, Decreased nerve conduction velocity OMIM:615284
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Gerstmann-Straussler Disease
Neurofibrillary tangles, Parkinsonism, Cerebellar atrophy, Apraxia, Bradykinesia, Gait ataxia, Tr... OMIM:137440
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Secondary microcephaly, Stereotypical hand wringing, Focal-onset seizu... ORPHA:289266
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Inability to walk, Athetosis, Rigidity, Gait disturbance, Delayed myelination... OMIM:618241
Oslam Syndrome
Abnormality of neutrophils, Radioulnar synostosis, Increased mean corpuscular volume ORPHA:2760
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612926
Adult Krabbe Disease
Somatic sensory dysfunction, Peripheral demyelination, Impaired tactile sensation, Ataxia, CNS de... ORPHA:206448
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Axonal loss, Degeneration of anterior horn cells, Decreased nerve conduction velocity, Enhanced n... OMIM:118301
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Spastic tetraparesis, Microcephaly, Clonus, Cerebral cortical atrophy, Hypopl... OMIM:617481
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Autosomal Spastic Paraplegia Type 58
Dysmetria, Peripheral demyelination, Gait ataxia, Short stature, Chorea, Spastic ataxia ORPHA:397946
Diamond-Blackfan Anemia 4
Atrial septal defect, Neutropenia, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Rickets, Osteomalacia OMIM:193100
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... OMIM:603552
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Impaired distal tactile sensation, Decreased number of large periphera... OMIM:162400
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Abnormal pyramidal sign, Abnormality of retinal pigmentation, Spasticity, Hypop... ORPHA:397951
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Osteopenia, Splenomegaly, Osteoporosis, Increased susceptibilit... ORPHA:231222
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Osteopenia, Osteoporosis, Neutropenia, Increased mean corpuscular volume, Ve... OMIM:612562
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration OMIM:607665
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Akinesia, Dandy-Walker malfo... OMIM:225790
Hereditary Methemoglobinemia
Cerebellar atrophy, Small for gestational age, Spastic tetraplegia, Athetosis, Temporal cortical ... ORPHA:621
Relapsing Fever
Leukopenia, Leukocytosis, Elevated circulating creatinine concentration, Neutrophilia, Elevated c... ORPHA:91547
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Dysmetria, Onion bulb formation, Axonal degeneration, Decreased n... OMIM:302800
Developmental And Epileptic Encephalopathy 44
Cerebral atrophy, Cerebellar atrophy, Athetosis, Failure to thrive, Spasticity, Hypoplasia of the... OMIM:617132
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Osteomalacia, Aminoaciduria, Hypophosphatemia, Rickets OMIM:134600
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Spastic tetraplegia, Athetosis, Limb hypertonia,... OMIM:617710
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Abnormal cerebral white matter morphology, Lower limb sp... ORPHA:485350
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Flexion contracture, Agenesis of corpus callosum, Onion bulb formation, Decreased sensory nerve c... OMIM:218000
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Unste... OMIM:256600
Metachromatic Leukodystrophy
Peripheral demyelination, Ataxia, Decreased nerve conduction velocity, Chorea, Optic atrophy OMIM:250100
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia OMIM:109130
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Hypouricemia, Aminoaciduria, Diabetes mellitus, Hypophosphatemia, Rickets OMIM:616026
Pick Disease Of Brain
Gliosis OMIM:172700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Choreoathetosis, Decreased number of large peripheral myelinated ... OMIM:208920
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Growth delay OMIM:614946
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis, Abnormal lower motor neuron morphology OMIM:105550
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Ataxia, Astrocytosis ORPHA:204
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Distal sensory impairment, Axonal degeneration, Decreased number ... OMIM:608720
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Spastic Paraplegia 50, Autosomal Recessive
Gliosis OMIM:612936
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Osteoporosis, Neutropenia, Increased mean corpuscular volume, ... ORPHA:2169
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Frontotemporal Dementia With Motor Neuron Disease
Gliosis, Progressive cerebellar ataxia, Abnormal lower motor neuron morphology ORPHA:275872
Propionic Acidemia
Pancytopenia, Hypoglycemia, Hyperglycinuria, Osteoporosis, Neutropenia, Anemia, Cardiomyopathy, H... OMIM:606054
Pontocerebellar Hypoplasia, Type 2A
Extrapyramidal dyskinesia, Opisthotonus, Progressive microcephaly, Cerebellar hypoplasia, Hypopla... OMIM:277470
Developmental And Epileptic Encephalopathy 64
Cerebellar hypoplasia, Inability to walk, Limb hypertonia, Microcephaly, Cerebral cortical atroph... OMIM:618004
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Elevated circulating creatinine concentration, Arthritis ORPHA:567544
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia OMIM:598500
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Rickets OMIM:615605
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Seizure, Unsteady gait, Gait ataxia, Microcephaly, Spasticity, Delayed myelination, Difficulty wa... OMIM:617807
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed epiphyseal o... OMIM:600785
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Basal ganglia gliosis, Small for gestational age, Ataxia, Cerebe... ORPHA:79243
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Cerebral degen... OMIM:234200
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Hypophosphatasia, Adult
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Ri... OMIM:146300
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Obesity, Impaired vibration sensation in the lower limbs, Decreased number of peripheral ... OMIM:604360
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia, Gout, Hyperuricemia OMIM:617056
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Short stepped shuffling gait, Spastic dysarthria, Blepharospasm, Loss of abilit... ORPHA:240094
Spinocerebellar Ataxia, X-Linked 3
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Unilateral vocal cord paralysis,... OMIM:301790
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly, Hypoglycemia OMIM:618838
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Truncal obesity, Short stature, Increased body mass index, Gliosis OMIM:300957
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Multiple Sulfatase Deficiency
Short stature, Peripheral demyelination, Ataxia, CNS demyelination OMIM:272200
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Glycosuria OMIM:614817
Hereditary Sensory And Autonomic Neuropathy Type 5
Impaired temperature sensation, Pain insensitivity, Decreased number of small peripheral myelinat... ORPHA:64752
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, CNS hypomyelination, Agenesis of corpus callosum, Microcephaly, Spasticity, H... OMIM:616239
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood ur... OMIM:235400
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Cerebral atrophy, Cerebellar hypoplasia, Ataxia, Secondary microcephaly, Delaye... OMIM:613839
Dpm1-Cdg
Retinopathy, Cerebellar atrophy, Cerebral atrophy, Atonic seizure, Pontocerebellar atrophy, Hypop... ORPHA:79322
Hereditary Late-Onset Parkinson Disease
Frequent falls, Parkinsonism, Resting tremor, Shuffling gait, Bradykinesia, Akinesia, Lewy bodies... ORPHA:411602
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Painless fractures due to injury, Ataxia, Decreased number of peripheral myelinated nerve fibers,... OMIM:256810
Hypercholanemia, Familial 1
Increased serum bile acid concentration, Rickets OMIM:607748
Postencephalitic Parkinsonism
Abnormal pyramidal sign, Resting tremor, Abnormal substantia nigra morphology, Involuntary moveme... ORPHA:97349
Autosomal Recessive Spastic Paraplegia Type 70
Progressive spastic paraplegia, Abnormal myelination, Hand tremor, Lower limb spasticity ORPHA:401835
Dpagt1-Cdg
Hypertonia, CNS hypomyelination, Focal motor seizure, Cerebellar hypoplasia, Inability to walk, G... ORPHA:86309
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Splenomegaly, Hyperammonemia ORPHA:664
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Ret... OMIM:274150
Dentatorubral Pallidoluysian Atrophy
Action tremor, Dysmetria, Choreoathetosis, Impaired proprioception, Hyperintensity of cerebral wh... ORPHA:101
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Cerebral calcification, Spastic tetraplegia, Small for gestational age, Akinesia, Microcephaly, F... OMIM:619147
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Neutropenia, Anemia, Radioulnar synostosis, Limited pronation/supination of for... OMIM:616738
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Cerebellar atrophy, CNS hypomyelination, Inability to walk, Cataplexy, Ataxia, L... OMIM:617193
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia, Elevated alpha-fetoprotein OMIM:617243
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Peripheral demyelination, Growth delay, Axonal loss OMIM:252160
Lissencephaly Type Iii And Bone Dysplasia
Agenesis of corpus callosum, Agenesis of cerebellar vermis, Akinesia, Microlissencephaly OMIM:601160
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Peripheral demyelination, Dysmyelinating leukodystrophy, Myelin outfoldi... OMIM:609136
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Microcephaly, Tremor, Cerebellar atrophy, Somatic sensory dysfunction, Impaired vibratory sensati... ORPHA:466768
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia, Insulin resistance... ORPHA:230
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Fasting hypoglycemia, Osteopenia, Diabetes mellitus, Hyper... ORPHA:2088
Specific Granule Deficiency 2
Osteopenia, Neutropenia, Anemia, Absent neutrophil specific granules, Thrombocytopenia OMIM:617475
Machado-Joseph Disease
Impaired vibratory sensation, Ataxia, Progressive cerebellar ataxia, Truncal ataxia, Gliosis, Lim... OMIM:109150
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal pyramidal sign, Neurofibrillary tangles, Parkinsonism, Resting tremor, Akinesia, Lewy bo... OMIM:616840
Glutaric Acidemia I
Delayed myelination, Failure to thrive, Symmetrical progressive peripheral demyelination, Choreoa... OMIM:231670
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Spastic tetraplegia, Dilated fourth ventricle, C... ORPHA:572798
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Decreased number of peripheral myelinated nerve fibers, Distal sensory... OMIM:256850
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating suberic acid concentration, Elevated circulating fumarate conc... OMIM:615160
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Osteopor... ORPHA:98850
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Pericarditis ORPHA:163596
Supranuclear Palsy, Progressive, 2
Neurofibrillary tangles, Parkinsonism, Eyelid apraxia, Bradykinesia, Akinesia, Rigidity, Neuronal... OMIM:609454
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Charcot-Marie-Tooth Disease Type 1F
Somatic sensory dysfunction, Mixed demyelinating and axonal polyneuropathy, Impaired propriocepti... ORPHA:101085
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Abnormal bone structure, Hypocalcemia, Osteomalacia, Bone cyst, Osteolysis, ... ORPHA:93160
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Decreased number of peripheral myelinated nerve ... ORPHA:320406
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Neutropenia, Anemia, Cardiomyopathy, Thrombocytopenia, Hyperammonemia ORPHA:79312
Wilson Disease
Glycosuria, Osteoporosis, Osteoarthritis, Osteomalacia, Joint hypermobility, Aminoaciduria, Hemol... OMIM:277900
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor OMIM:614203
Diffuse Alveolar Hemorrhage
Anemia, Elevated circulating creatinine concentration, Thrombocytopenia, Leukocytosis ORPHA:90060
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Homocystinuria, Megaloblastic anemia, Methylmalonic acidemia, Increased mean... OMIM:277410
Supranuclear Palsy, Progressive, 1
Neurofibrillary tangles, Parkinsonism, Eyelid apraxia, Bradykinesia, Akinesia, Rigidity, Neuronal... OMIM:601104
Alzheimer Disease 3
Neurofibrillary tangles, Spastic tetraparesis, Apraxia, Cerebral cortical atrophy, Babinski sign,... OMIM:607822
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Absent circulating B cells, Transient neutropenia OMIM:619707
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gliosis, Short stature, Overweight ORPHA:457240
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Splenomegaly, Conjugated hyperbilirubinemia, Rickets OMIM:211600
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Lichtenstein Syndrome
Neutropenia, Increased susceptibility to fractures, Osteoporosis OMIM:246550
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Osteomalacia, Hypouricemia, Hypophosphatemia OMIM:227810
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, P... ORPHA:29073
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Microcephaly, Spasticity, Cerebral hypomyelination, Hypoplasia of the corpus ... OMIM:616683
Early-Onset Autosomal Dominant Alzheimer Disease
Neurofibrillary tangles, Parkinsonism, Apraxia, Ataxia, Cerebral cortical atrophy, Oculomotor apr... ORPHA:1020
Hypophosphatemic Rickets, X-Linked Recessive
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Osteomalacia, Thin bony co... OMIM:300554
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hypoglycemia, Decreased plasma total carnitine, Elevated circulating crea... OMIM:608836
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Propionic Acidemia
Hypoglycemia, Cardiomyopathy, Hyperammonemia ORPHA:35
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, Athetosis, Pigmentary retinopathy, Hyperkinetic movements, Infantile spasms, Cereb... ORPHA:404454
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Osteomalacia, Increased circulating beta-C-terminal telopeptide level, ... ORPHA:157215
Developmental And Epileptic Encephalopathy 17
Cerebral atrophy, Athetosis, Generalized tonic seizure, Chorea, Hypoplasia of the corpus callosum... OMIM:615473
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, H... OMIM:600081
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Tay-Sachs Disease
Cherry red spot of the macula, Gliosis, Gait disturbance, Typical absence seizure, Exaggerated st... ORPHA:845
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Peripheral demyelination, Growth delay, Axonal loss OMIM:252150
3-Methylglutaconic Aciduria, Type Viib
Neutropenia OMIM:616271
Dent Disease 1
Glycosuria, Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin bony cortex, Aminoaci... OMIM:300009
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Progressive microcephaly, Spastic tetraplegia, Cerebellar hypo... OMIM:615574
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231226
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination, Obesity, Ataxia, Absent pubertal growth spurt, Short stature ORPHA:464282
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Impaired gluconeogenesis, Endocardial fibroelastosis, Recurrent hypoglycemia, Hyper... OMIM:212140
Diamond-Blackfan Anemia 11
Neutropenia, Anemia, Radioulnar synostosis, Bicuspid aortic valve, Anemia of inadequate production OMIM:614900
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Anemia, Thrombocytopenia, Hyperammonemia ORPHA:289916
Felty Syndrome
Abnormal lymphocyte morphology, Limitation of joint mobility, Splenomegaly, Neutropenia, Anemia, ... ORPHA:47612
Barth Syndrome
Dilated cardiomyopathy, Granulocytopenia, Endocardial fibroelastosis, Hypertrophic cardiomyopathy... OMIM:302060
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia, Abnormal cardiac septum morphology OMIM:618067
Manganese Poisoning
Bradykinesia, Abnormal globus pallidus morphology, Akinesia, Cogwheel rigidity, Gait disturbance,... ORPHA:306682
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Mannosidosis, Alpha B, Lysosomal
Abnormal pyramidal sign, Cerebellar atrophy, Retinal degeneration, Gait ataxia, Spasticity, Corpu... OMIM:248500
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets OMIM:602722
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... ORPHA:298
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration, Pericardial effusion, Elevated... ORPHA:79126
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Homocystinuria, Atrial septal defect, Methylmalonic acidemia, Neutropenia, A... OMIM:614857
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Spastic tetraparesis, Limb hypertonia, Severe failure to thrive, Optic disc pallor, Clonus, Macul... ORPHA:423479
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Elevated circulating creatinine concentration, Increas... ORPHA:36234
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gliosis, Ataxia, Chorea OMIM:618321
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia OMIM:616949
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Decreased number of peripheral myelinated nerve fibers, Failure to thrive, Distal sensory... ORPHA:254930
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Osteopenia, Acute myeloid leukemia, Neutropenia, Aplastic an... ORPHA:486
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... ORPHA:158061
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Osteoporosis, Rickets, Diabetes mellitus OMIM:560000
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Thin bony cortex, Delayed ... OMIM:241530
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu... OMIM:201300
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Falls, Blepharospasm, Bradykinesia, Akinesia, Slowed slurr... ORPHA:240071
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Th... OMIM:264700
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Myocarditis, Neutropenia, Anemia, Cardi... ORPHA:292
Lethal Congenital Contracture Syndrome 2
Degenerative vitreoretinopathy, Akinesia OMIM:607598
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Elevated circulating creatinine concentration, Situs inversus totalis OMIM:613095
Papillorenal Syndrome
Morning glory anomaly, Retinal detachment, Chorioretinal atrophy, Macular degeneration, Chiari ty... OMIM:120330
Perry Syndrome
Parkinsonism, Short stepped shuffling gait, Bradykinesia, Akinesia, Rigidity, Weight loss, Tremor OMIM:168605
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Sparse bone trabeculae, Hypocalcemia, Increased... ORPHA:289157
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Parkinsonism, Repetitive compulsive behavior, Apraxia, Lewy bodies, Cere... OMIM:607485
Combined Oxidative Phosphorylation Defect Type 29
Retinopathy, Myoclonic spasms, Optic neuropathy, Poor coordination, Primary microcephaly, Bilater... ORPHA:478029
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, CNS hypomyelination, Microcephaly, Spasticity, Exaggerated startle response, ... OMIM:618367
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Type I diabetes mellitus, Coombs-positive hemolytic anemia, Autoimmune thrombocytop... OMIM:304790
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Lissencephaly, X-Linked, 2
Gliosis OMIM:300215
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia, Elevated circulating creatine kinase concentration OMIM:251900
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Acute lymphoblastic leukemia OMIM:610738
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Tongue fasciculations, Obesity, Akinesia OMIM:618822
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Splenomegaly, Hyperbilirubinemia, Rickets OMIM:607765
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Peripheral demyelination, Intrauterine growth retardation, Growth delay, Ataxia, Severe demyelina... ORPHA:79282
Cystinosis
Hypokalemia, Aminoaciduria, Hypophosphatemia, Type I diabetes mellitus, Rickets ORPHA:213
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Decreased motor nerve conduction velocity, Onion bulb formation OMIM:610532
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Gout, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirubinemia, Ricket... ORPHA:79303
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Irregular ossification at anterior rib ends, Neutropenia, A... OMIM:260400
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Hypokalemia, Leukocytosis, Elevated circulating creatinine concentration, Hyponat... ORPHA:90038
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormal cortical gyration, Atonic seizure, Spastic tetraplegia, Generalized myoclonic seizure, A... ORPHA:79351
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Gliosis, Failure to thrive, Ataxia, Astrocytosis OMIM:203700
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Gliosis, Failure to thrive, Short stature, Rhizomelia OMIM:602613
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout, Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Leigh Syndrome
Sensory axonal neuropathy, Intrauterine growth retardation, Choreoathetosis, Athetosis, Growth de... ORPHA:506
Charcot-Marie-Tooth Disease Type 4C
Impaired pain sensation, Sensory ataxia, Demyelinating peripheral neuropathy, Decreased number of... ORPHA:99949
Kleefstra Syndrome Due To A Point Mutation
Gliosis, Failure to thrive, Short stature, Large for gestational age ORPHA:261652
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Atrial septal defect, Erythroid hypoplasia, Acute myeloid leukemia, E... ORPHA:124
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Action tremor, Astrocytosis, Spastic paraparesis, Bradykinesia, Abnormal globus pallidus morpholo... ORPHA:309854
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Neutropenia, B lymphocytopenia, Absent... OMIM:619705
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Mitochondrial Dna-Associated Leigh Syndrome
Segmental peripheral demyelination/remyelination, Ataxia, Demyelinating peripheral neuropathy, Ga... ORPHA:255210
Immunodeficiency 55
Neutropenia OMIM:617827
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Microcephaly, Diffuse cerebral atr... ORPHA:1934
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Osteopenia, Flexion contracture, Neutropenia, Abnormal cardiac septum morphology OMIM:618005
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Autosomal Recessive Spastic Paraplegia Type 35
Dysmetria, Peripheral demyelination, Optic atrophy, Dysdiadochokinesis ORPHA:171629
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Thrombocytosis, Hypocalcemia, Osteoporosis, Iron deficiency anemia, Mac... OMIM:212750
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normochromic anemia, Elevated circulating creatinine concentration, Cardiomyopathy, Normocytic an... ORPHA:247691
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Atrial septal defect, Cor triatriatum, Splenomegaly, Pulmonic stenosis, ... OMIM:612541
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Hypoglycemia, Hyperuricosuria, Bicarbonaturia... ORPHA:3337
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Splenomegaly, Neutropenia, Anemia, Abnormal heart morpholog... ORPHA:398124
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration, Situs inversus totalis OMIM:602088
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epi... OMIM:277440
Dent Disease
Glycosuria, Sparse bone trabeculae, Recurrent fractures, Hyperuricosuria, Osteomalacia, Elevated ... ORPHA:1652
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormality of peripheral nerve conduction, Abnormality of perip... ORPHA:168563
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Wolcott-Rallison Syndrome
Hyponatremia, Atrial septal defect, Double outlet right ventricle, Neutropenia, Iron deficiency a... ORPHA:1667
Fibrous Dysplasia Of Bone
Cortical irregularity, Hypercalcemia, Fibrous dysplasia of the bones, Abnormal bone structure, Os... ORPHA:249
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Neutropenia, Abnormal heart morphology, Hyperglycemia, Thrombocytopen... ORPHA:391673
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Methylmalonic acidemia, Neutropenia, Anemia, Hyperglycinemia, Thrombocytopenia, Hyp... OMIM:251110
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Combined Oxidative Phosphorylation Deficiency 42
Elevated circulating creatine kinase concentration, Anemia, Hypoglycemia, Cardiomyopathy OMIM:618839
Glycogen Storage Disease Ib
Hypoglycemia, Hyperlipidemia, Osteoporosis, Hyperuricemia, Neutropenia, Gout OMIM:232220
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Agenesis of corpus callosum, Decreased amplitude of sensory action pot... OMIM:618733
Combined Oxidative Phosphorylation Deficiency 40
Elevated circulating creatine kinase concentration, Anemia, Hypertrophic cardiomyopathy, Hypoglyc... OMIM:618835
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Cardiac amyloidosis, Hypertrophic ... ORPHA:439232
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Aplastic anemia, Lymphocytosis, Thromb... OMIM:308240
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Hypokalemia, Pericarditis, Leukopenia, Elevated circulating creat... ORPHA:99826
Schimke Immunoosseous Dysplasia
Osteopenia, Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Abnormal T cell morphology OMIM:242900