Gene Summary

Name:
acyl-Coenzyme A binding domain containing 5
Synonyms:
1300014E15Rik

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 bone trabecula number Acbd5tm1b(EUCOMM)Wtsi HOM   Early adult 8.50×10-07
decreased circulating serum albumin level Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 4.42×10-08
increased blood urea nitrogen level Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 3.21×10-05
decreased circulating calcium level Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 1.12×10-05
increased circulating creatinine level Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 2.27×10-08
decreased circulating triglyceride level Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 8.26×10-05
limb grasping Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 2.72×10-05
increased bone mineral content Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 5.12×10-06
increased body length Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 1.25×10-05
increased mean platelet volume Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 4.08×10-08
increased bone trabecular spacing Acbd5tm1b(EUCOMM)Wtsi HOM   Early adult 5.42×10-09
increased circulating alkaline phosphatase level Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 1.24×10-06
decreased circulating total protein level Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 3.80×10-06
decreased total body fat amount Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 4.77×10-06
improved glucose tolerance Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 5.88×10-06
increased bone mineral density Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 7.97×10-05
increased lean body mass Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 2.03×10-06
abnormal gait Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 3.09×10-10
thrombocytopenia Acbd5tm1b(EUCOMM)Wtsi HOM Early adult 4.60×10-06

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

2 Images

Legacy Phenotype Associated Images

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Human diseases caused by Acbd5 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 Acbd5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dystrophy With Leukodystrophy
Dysmetria, Falls, Truncal titubation, Rod-cone dystrophy, Waddling gait, CNS hypomyelination OMIM:618863

The table below shows human diseases predicted to be associated to Acbd5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Dysphagia, Axonal loss, Cerebellar atrophy, Rigidity, Neurodegeneration, ... OMIM:617672
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hyperlipidemia, Hand tremor, Gliosis, Axonal degeneration, Mildly elevated crea... OMIM:604484
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Symmetric peripheral demyelination, Peripheral demyeli... ORPHA:206594
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Osteo... ORPHA:398063
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Babinski sign, Cerebellar atrophy, Retinal degeneration, Ataxia, Spasticity, Limb ... OMIM:614322
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Failure to thrive, Reduced bone mineral density, Splenomegaly, Hypoc... ORPHA:172
Spinocerebellar Ataxia, Autosomal Recessive 27
Dysphagia, Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy... OMIM:618369
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Falls, Flexion contracture, Hypocalcemia OMIM:615883
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... OMIM:612526
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Spinocerebellar Ataxia 17
Dystonia, Dysphagia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central ne... OMIM:607136
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cogwh... ORPHA:497764
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Kyph... OMIM:180800
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Inability t... ORPHA:280234
Spinocerebellar Ataxia Type 25
Babinski sign, Impaired distal tactile sensation, Decreased number of large peripheral myelinated... ORPHA:101111
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Failure to th... OMIM:267700
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia OMIM:607250
Spinocerebellar Ataxia 25
Babinski sign, Cerebellar atrophy, Impaired pain sensation, Ataxia, Abolished vibration sense, De... OMIM:608703
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Abnormality of the vertebral column, Peripheral axonal degeneration, Axonal loss, Impaired distal... ORPHA:101097
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Cerebellar hypoplasia, Spasticity, Unsteady g... OMIM:213200
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:614895
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Paresthesia, Spontaneous pain sensation, Peripheral demyelination, Falls,... ORPHA:2932
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Premature ovarian insufficiency,... OMIM:615889
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gait disturbance, Babinski sign, Axonal loss, Caudate atrophy, Peripheral demyelination, Gliosis,... OMIM:221770
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... ORPHA:99953
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Babinski sign, Hypergo... OMIM:604168
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia ORPHA:94124
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemiplegia, Pancy... OMIM:603553
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, CNS demyelination, Peripheral demyelination, Optic neuritis, Hemiparesis, Ataxia OMIM:165200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... OMIM:118200
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Degeneration of the lateral corticospinal tracts, Dysphagia, Weakness due to upper... ORPHA:275872
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Diabetes mellitus, Ectopic ossification OMIM:602475
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Osteopenia, Hypocalcemia OMIM:619073
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture, Connective tissue nevi OMIM:166700
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Gliosis, Bradykine... OMIM:143100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Ax... OMIM:609260
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Failure to thrive, Hypoplasia of the thymus, Anemia, Splenome... OMIM:603554
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Impaired distal proprioception, Recurrent acute respiratory tract i... ORPHA:231445
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Bone cyst, Hypophosphatemia, Abnormal bone structure, Coarse metaphyseal trabec... ORPHA:93160
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Dysmetria, Chorea, Peripheral demyelin... ORPHA:397946
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Degeneration of the lateral corticospinal tracts, Dysphagia, Retinal degeneration,... OMIM:604360
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... OMIM:302800
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigm... OMIM:256731
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... OMIM:118220
Developmental And Epileptic Encephalopathy 14
Clonus, Neuronal loss in central nervous system, Gliosis, Tetraplegia, Spasticity, Delayed myelin... OMIM:614959
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Gout, Hypercholest... OMIM:610947
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Kyphosis, Distal sensory impairme... OMIM:617087
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Splenomegal... OMIM:259700
Gm1 Gangliosidosis
Retinopathy of prematurity, Abnormal form of the vertebral bodies, Splenomegaly, Hepatosplenomega... ORPHA:354
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Krabbe Disease
Progressive spasticity, Optic atrophy, CNS demyelination, Failure to thrive, Neurodegeneration, P... OMIM:245200
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired proprioception, Optic atrophy, Attenuation of retinal blood vessels, Decreased sensory n... OMIM:609033
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Steppage gait... OMIM:608340
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Retinal degeneration, Increased neuronal aut... OMIM:204500
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Neurodegeneration, Ataxia, Retinopathy... OMIM:610951
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, Broad-... OMIM:258650
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dystonia, Cerebellar atrophy, Decreased number of large periphera... OMIM:208920
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... OMIM:606482
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:607734
Adult Krabbe Disease
Clumsiness, Abnormal pons morphology, Abnormality of the medulla oblongata, Acroparesthesia, Gait... ORPHA:206448
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Acroparesthesia, Progressive gait ataxia, Symmetrical progressive peripheral demyelination, Demye... ORPHA:208981
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Hypocalce... ORPHA:53
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Symmetric peripheral demyelination, Pseudobulbar paralysis, Gliosis, Leukodystroph... OMIM:169500
Trypsinogen Deficiency
Failure to thrive, Hypoproteinemia OMIM:614044
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Neuronal loss in central nervous system, Peripheral demyelination, Optic neuritis, My... ORPHA:71211
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... ORPHA:86816
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, CNS demyelination, Failure to thrive, Peripheral demyelination,... OMIM:220111
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment,... OMIM:606483
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased motor nerve conduction velocity, Distal sensory impairment, Perip... OMIM:609311
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating... OMIM:616050
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Anemia, Splenomegaly, Intention tremor, Osteopenia, Hypersplenism, Thrombocy... OMIM:610539
Spinocerebellar Ataxia 7
Optic atrophy, Dysphagia, Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor f... OMIM:164500
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Weight loss, Salmonella osteomyelitis, Anemia, Splenomegaly, Hepato... OMIM:209950
Spastic Ataxia, Charlevoix-Saguenay Type
Onion bulb formation, Decreased motor nerve conduction velocity, Babinski sign, Decreased number ... OMIM:270550
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Axonal loss, Peripheral demyelination, Kyphoscoliosis, Ataxia, Difficulty walking OMIM:616684
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia OMIM:256300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Gliosis, Extrapyramidal d... OMIM:105550
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Gait disturbance, Rod-cone dystrophy, Distal sensory impairm... OMIM:311070
Dengue Fever
Hypoproteinemia, Thrombocytopenia, Leukopenia, Lethargy ORPHA:99828
Spinocerebellar Ataxia, X-Linked 3
Optic atrophy, Dysphagia, Optic disc pallor, Head titubation, Cerebellar atrophy, Dysmetria, Neur... OMIM:301790
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypoketotic hypoglycemia, Small for gestational age, Elevated circulating creati... ORPHA:26793
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Infectious encephalitis, Neutropenia, Pancytopenia, Fulminant hepatitis, Splenomega... OMIM:308240
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Gliosis, Hemiparesis, Meningitis, Lethargy OMIM:613002
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Hypocalcemic tetany, Hypocalcemic seizures, Diaphysea... ORPHA:94089
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Impaired oropharyngeal swallow response, Acute demyelinating polyneuropathy... ORPHA:98916
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetri... ORPHA:157941
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Kyphoscoliosis, D... OMIM:604563
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Elevated circulating creatine kinase concentration, Osteoporosis, Amelogenesis... OMIM:614727
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Retinal dystrophy, Lower limb spasticity, Kyphosis, Ataxia, Inability to walk, Waddling... OMIM:616756
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluore... OMIM:204200
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Myoclonus, M... OMIM:256730
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Hypocalcemic seizures, Calvarial... ORPHA:93324
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Babinski sign, Dysphagia, CNS demyelination, Peripheral demyelination, Decreased nerve conduction... OMIM:249900
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Myoclonus, Gliosis, Loss of Purkinje cells in the cerebellar vermis, Hype... OMIM:225753
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Arthritis, Joint stiffness, Difficulty walking, Thickened cortex of bones ORPHA:564003
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Gliosis, Hypertonia, Spasticity, Cerebral atrophy,... OMIM:615095
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Weight loss, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T ... ORPHA:90362
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Arthrit... OMIM:210250
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
CNS demyelination, Rigidity, Neuronal loss in central nervous system, Gliosis, Shuffling gait, Br... OMIM:221820
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Osteomalacia ORPHA:89937
L-2-Hydroxyglutaric Aciduria
Spastic tetraparesis, Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis, Abnormality ... ORPHA:79314
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas ORPHA:1879
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Cerebral Visual Impairment
Central nervous system degeneration, Optic atrophy, Clumsiness, Optic disc pallor, Infectious enc... ORPHA:447788
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Cerebellar atrophy, Severe demyelination of the white matter, Global brain atrophy... OMIM:236792
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... OMIM:241520
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Alg6-Cdg
Retinal degeneration, Failure to thrive, Rod-cone dystrophy, Abnormality of the liver, Ataxia, Ce... ORPHA:79320
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... OMIM:246700
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Thin bony cortex, Hypocalcemic seizures, Rickets, Failure to thrive, I... ORPHA:289157
Malaria
Gait imbalance, Anemia, Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive pro... ORPHA:673
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Microcytic anemia, Broad-based gait, Hypoalbuminemia OMIM:618805
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... OMIM:608673
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Hypoalbuminemia OMIM:617156
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Clonus, Peripheral axonal neuropathy, Babinski sign, Steppag... OMIM:615035
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Kyphosis, Ataxia, Spasticity, Limb a... OMIM:610743
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Dysphagia, Axonal loss, Paralysis, Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Recurrent aspiration pneumonia, Neuronal loss in central nervous system, Gliosis, ... ORPHA:204
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Dist... OMIM:601098
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Cystinuria, Hypocalcemia ORPHA:163693
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Impaired proprioception, Corpus callosum atrophy, Cerebellar hypoplasia, Parietal cortical atroph... ORPHA:412057
Isolated Osteopoikilosis
Keloids, Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal... ORPHA:166119
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Infectious encephalitis, Recurrent protozoan infecti... OMIM:209920
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Increased bone mineral density, H... ORPHA:36913
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Failure to thrive, Anemia, Camptodactyly, Thrombocytopenia OMIM:608104
Leishmaniasis
Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, P... ORPHA:507
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gl... OMIM:256600
Typhoid
Hepatomegaly, Infectious encephalitis, Splenomegaly, Tremor, Ataxia, Hypertonia, Skin rash, Lethargy ORPHA:99745
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Extramedulla... OMIM:259720
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Ataxia, Increased bone mineral density,... OMIM:136300
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:94090
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Distal sensory impairment, Axonal regeneration, Steppage gait OMIM:615185
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Juvenile rheumat... ORPHA:158061
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Dysphagia, Axonal degeneration/regeneration, Steppage gait, Peripheral demyelination, Distal sens... OMIM:607736
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Gait imbalance, Elevated circulating creatine kinase concentration, Hy... ORPHA:64753
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Dystonia, Cerebellar atrophy, Babinski sign, Dysmetria, Atrophy/Degeneration affec... OMIM:612319
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:605588
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Dystonia, Failure to thrive, Peripheral demyelination, Spastic tetraplegia, Kyphosis OMIM:618237
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia, Flexion contracture OMIM:608093
Zika Virus Disease
Macular atrophy, Infectious encephalitis, Optic disc hypoplasia, Abnormality of the optic disc, S... ORPHA:448237
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... ORPHA:99
Chédiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Splenomegaly, Increased circulating ferritin concentrati... ORPHA:167
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Machado-Joseph Disease
Dystonia, Dysphagia, Cerebellar atrophy, Babinski sign, Rigidity, Dilated fourth ventricle, Glios... OMIM:109150
Pfapa Syndrome
Hepatomegaly, Infectious encephalitis, Weight loss, Arthritis, Splenomegaly, Recurrent pharyngitis ORPHA:42642
Rajab Interstitial Lung Disease With Brain Calcifications 2
Joint hypermobility, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypoalbuminemia, Infectious encephalitis, Erythroderma, Neutropenia, Anemia, Spleno... ORPHA:540
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density, Hyperinsulinemia, Tall stature OMIM:618406
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration, Rigidity, Spasticity, Cerebral atrophy, Delayed myelination OMIM:616211
Multiple Sulfatase Deficiency
Hepatomegaly, Cerebellar atrophy, Retinal degeneration, CNS demyelination, Hypoplastic vertebral ... OMIM:272200
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Cerebellar atrophy, Infertility, Knee clonus, Upper limb spa... OMIM:614409
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Hepatomegaly, Babinski sign, Cerebellar atrophy, Retinal degenera... OMIM:248500
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Distal sensory impairment, Steppage gait OMIM:616039
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration, Type I diabetes mellitus, Small ... ORPHA:275555
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Gliosis, Anemia, Myoclonus, Dif... OMIM:614946
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Pontocerebellar atrophy, Cerebellar atrophy, Babinski sign, Frequent falls, Dysmet... ORPHA:171629
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology, Tal... ORPHA:3152
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Spastic Paraplegia 50, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Cerebral palsy, Gliosis, Spastic tetraplegia, Spastic paraplegia OMIM:612936
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Rigidity, Neuronal loss in ce... OMIM:610127
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Steppage gait, Difficulty walking, Frequent falls OMIM:618279
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... OMIM:615157
Insensitivity To Pain With Hyperplastic Myelinopathy
Pain insensitivity, Abnormal peripheral myelination, Impaired tactile sensation OMIM:147530
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Abnormal astrocyte morpho... ORPHA:168486
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... OMIM:605285
Whipple Disease
Myocarditis, Hepatomegaly, Hyponatremia, Cachexia, Infectious encephalitis, Pericarditis, Polydip... ORPHA:3452
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hypotriglyce... ORPHA:2298
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Clonus, Babinski sign, Myoclonic spasms, Rigidity, Neuronal loss in central nervou... OMIM:614498
Kenny-Caffey Syndrome, Type 1
Anemia, Calvarial osteosclerosis, Hypomagnesemia, Decreased skull ossification, Hypocalcemia OMIM:244460
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Axonal regener... OMIM:607731
Leukoencephalopathy With Vanishing White Matter
Optic atrophy, Secondary amenorrhea, Gait disturbance, CNS demyelination, Cerebral hypomyelinatio... OMIM:603896
Abetalipoproteinemia
Retinal degeneration, CNS demyelination, Acanthocytosis, Peripheral demyelination, Abetalipoprote... OMIM:200100
Melorheostosis
Ectopic ossification in muscle tissue, Failure to thrive, Hyperostosis, Arthritis, Atypical scarr... ORPHA:2485
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Steppage gait,... OMIM:607677
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Rickets, Iron deficiency anemia, Failure to thrive, Weight los... OMIM:212750
Listeriosis
Myocarditis, Brain abscess, Septic arthritis, Unusual CNS infection, Granulomatosis, Somatic sens... ORPHA:533
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Kyphoscoliosis, Gliosis, Cerebellar hypoplasia, Delayed myelination OMIM:214150
Hemimegalencephaly
Optic atrophy, Abnormal neuron morphology, Myoclonus, Gliosis, Hemiparesis ORPHA:99802
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:118210
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... ORPHA:231111
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight, Osteoporosis OMIM:613606
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
X-Linked Agammaglobulinemia
Neutropenia, Failure to thrive, Weight loss, Anemia, Arthritis, Osteomyelitis, Hypocalcemia, Thro... ORPHA:47
Bardet-Biedl Syndrome 16
Retinal degeneration, Recurrent otitis media, Rod-cone dystrophy, Bronchiolitis, Hypogonadism, Ob... OMIM:615993
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Motor conduction block, Impaired distal proprioception, Decreased ... ORPHA:99948
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Crigler-Najjar Syndrome
Abnormality of the liver, Lethargy, Infectious encephalitis, Jaundice ORPHA:205
Nephrotic Syndrome, Type 14
Hypoglycemia, Ataxia, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Leigh Syndrome
Optic atrophy, Dystonia, Hepatocellular necrosis, CNS demyelination, Failure to thrive, Gliosis, ... OMIM:256000
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, Hypertonia, Slurred speech, Tip-toe gait, Tetraparesis, Unsteady gait, Decreased numb... ORPHA:2386
Aceruloplasminemia
Torticollis, Increased circulating ferritin concentration, Abnormality of retinal pigmentation, E... ORPHA:48818
Lopes-Maciel-Rodan Syndrome
Dystonia, Dysphagia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Kyphosis, Tremor, Hyperto... OMIM:617435
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Tall stature, Weight loss, Elevated circulating creatinine conce... ORPHA:29073
Aspergillosis
Sinusitis, Abnormality of the vertebral column, Infectious encephalitis, Neutropenia, Pneumonia, ... ORPHA:1163
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... OMIM:618982
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin ORPHA:3319
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Reduced sperm motility, Platyspondyly, Rod-cone dystrophy, S... OMIM:602271
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Failure to thrive, Splenomegaly, Kyphosis, Ataxia, R... ORPHA:796
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal myelination, Dystonic gait, Cerebral hypomyelination, Failure to thrive, Gliosis, Lower ... ORPHA:280210
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Hypocalcemia OMIM:179800
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Bone cyst, Anemia ORPHA:2668
Galloway-Mowat Syndrome 5
Ataxia, Peripheral demyelination, Brain atrophy, Spasticity OMIM:617731
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Primary amenorrhea, Hypergonadotropic hypogonadism, Decreased ... OMIM:607080
Spastic Paraplegia 18, Autosomal Recessive
Gait disturbance, Babinski sign, Upper limb spasticity, Lower limb spasticity, Kyphosis, Spastic ... OMIM:611225
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Hypoalbuminemia, Infectious encephalitis, Neutropenia, Leukopenia, Hep... ORPHA:292
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Optic atrophy, Abnormal myelination, Retinal degeneration, Limb hypertonia... ORPHA:442835
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... OMIM:610100
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Slc35A1-Cdg
Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis ORPHA:238459
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, Hypermethioninemia, CNS demyelination OMIM:250850
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Biconcave vertebral bodies, Macular atrophy, Optic disc pallor, Cerebellar atrophy, Retinal degen... OMIM:619260
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Paralysis, Microvesicular hepatic steatosis, Hepatomegaly, Cerebellar atrophy, Failure to thrive,... OMIM:203700
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal sensory impairment, Segmental peripheral demyelination/remyelination, Axonal degeneration/... OMIM:607791
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Episodic hemolytic anemia, Craniosynostosis, Abnormal dental enamel morphology, In... ORPHA:251004
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Osteopetrosis, Hypocalcemia OMIM:618476
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Distal sensory impairment, Gait disturbance, Peripheral demyelination, Decreased nerve conduction... ORPHA:99944
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Failure to thrive, Hypocholesterolemia, Abnormal subcutaneous fat tissue distribu... OMIM:212065
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Eosinophilic Gastroenteritis
Leukocytosis, Weight loss, Anemia, Steatorrhea, Hypoalbuminemia, Eosinophilia, Elevated circulati... ORPHA:2070
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Impaired oropharyngeal swallow response, Splenomegaly, Hypotrig... ORPHA:404454
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Cerebellar cyst, Recurrent aspiration pneumonia, Small for gestational age, Cerebellar ... ORPHA:79243
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Decreased motor nerve conduction velocity, Gait disturbance, Axonal loss, F... OMIM:611228
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Cerebellar atrophy, Elevated circulating creatine kinase concentration, Neurodegen... OMIM:616239
Acute Disseminated Encephalomyelitis
Herpes simplex encephalitis, Diaphragmatic paralysis, Involuntary movements, CNS demyelination, A... ORPHA:83597
Johanson-Blizzard Syndrome
Failure to thrive, Hypoproteinemia, Anemia, Diabetes mellitus ORPHA:2315
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Metachromatic Leukodystrophy
Optic atrophy, Gait disturbance, Dystonia, Babinski sign, Gallbladder dysfunction, Chorea, Periph... OMIM:250100
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... ORPHA:1667
Pelger-Huet Anomaly
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... OMIM:169400
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Dilated fourth ventricle, Elevated circul... ORPHA:370022
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis, Polyphagia, Stereotypy OMIM:172700
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic arthritis... ORPHA:36234
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Hydroxyprolinemia, Hydroxyprolinuria, Osteoporosis, Hyperuricemia, Increased bone mine... OMIM:239000
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Meningitis, Lethargy, Hemiparesis OMIM:617900
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Steppage gait, Perip... OMIM:600882
Tay-Sachs Disease
Clumsiness, Global brain atrophy, Fasciculations, Incoordination, Gait disturbance, Dysmetria, De... ORPHA:845
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Myoclonus, Abnormality of extrapyramidal motor ... OMIM:604218
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612926
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Small for gestational age, Increased body mass index, Gliosis, Truncal obesity,... OMIM:300957
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Retinal dystrophy, Lower limb spasticity, Kyphosis, Ataxia, Delayed peripheral myelinat... ORPHA:464282
Oliver-Mcfarlane Syndrome
Peripheral axonal neuropathy, Retinal degeneration, Small for gestational age, Hypogonadotropic h... OMIM:275400
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hypoglycemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hyp... OMIM:251880
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Gliosis OMIM:615119
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria OMIM:614817
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... ORPHA:103910
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Mucolipidosis Iv
Optic atrophy, Dystonia, Cerebellar atrophy, Retinal degeneration, Babinski sign, Spastic tetrapl... OMIM:252650
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Pigmentary retinopathy, Dysphagia, Cerebellar atrophy, Optic disc pallor, Retinal deg... ORPHA:79264
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Spastic p... OMIM:182815
Spastic Paraplegia 79, Autosomal Recessive
Optic atrophy, Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, ... OMIM:615491
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Brucellosis
Myocarditis, Chorioretinitis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... ORPHA:1304
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Familial Infantile Bilateral Striatal Necrosis
Atrophy/Degeneration involving the caudate nucleus, Gait disturbance, Choreoathetosis, Astrocytos... ORPHA:225154
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... OMIM:274150
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Gait disturbance, Decreased nerve conduction velocity, Distal sensory impai... OMIM:615284
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circulating creatinin... OMIM:235400
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal pons morphology, Hyponatremia, Dystonia, Opis... ORPHA:79139
Tangier Disease
Hepatomegaly, Peripheral axonal neuropathy, Impaired temperature sensation, Decreased HDL cholest... OMIM:205400
Oncogenic Osteomalacia
Gait disturbance, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypophos... ORPHA:352540
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Inguinal hernia, Hypocalcemia, Splenomegaly OMIM:235255
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Neurocutaneous Melanocytosis
Dandy-Walker malformation, Abnormality of retinal pigmentation, Chiari malformation, Infectious e... ORPHA:2481
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Stomatitis, Peripheral demyelination, Atrophy of the spinal cord, Hyperammonemia, Ab... ORPHA:79282
Hypotonia-Cystinuria Syndrome
Failure to thrive, Cystinuria, Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... ORPHA:158048
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Acanthocytosis, Failure to thrive, Hypocholesterolemia, ... ORPHA:14
Nipah Virus Disease
Recurrent pharyngitis, Myoclonus, Infectious encephalitis, Tremor ORPHA:99825
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:607706
Alexander Disease
Gait disturbance, Dysphagia, Clonus, Infectious encephalitis, Failure to thrive, Chorea, Facial p... ORPHA:58
Hyperparathyroidism 4
Hypercalcemia, Osteopenia OMIM:617343
Legionnaires Disease
Myocarditis, Hyponatremia, Infectious encephalitis, Pericarditis, Endocarditis, Hepatitis, Pancre... ORPHA:549
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Polydipsia, Hypokalemia, Salt craving, Hypomagn... ORPHA:199343
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Cerebellar atrophy, Tongue fasciculations, Upper limb spasticity, Cataplexy, Eleva... OMIM:617193
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Thickened cortex of long bones, Anemia, Increased bone mineral density... OMIM:127000
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Dystonia, Elevated hepatic transaminase, Failure ... OMIM:256810
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hsd10 Disease, Infantile Type
Optic atrophy, Cerebral atrophy, Dysphagia, Retinal degeneration, Dystonia, Choreoathetosis, Poor... ORPHA:391428
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... ORPHA:98856
Gaisböck Syndrome
Hyperproteinemia, Obesity, Increased red blood cell count, Increased circulating renin level, Gou... ORPHA:90041
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... OMIM:300894
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Scrub Typhus
Myocarditis, Infectious encephalitis, Anterior uveitis, Tremor, Meningitis, Splenomegaly, Skin ra... ORPHA:83317
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Fasciculations, Intention tremor, Macular... ORPHA:284289
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Infectious encephalitis, Cerebral cortical atrophy, Hyperammonemia ORPHA:1194
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Diaminopentanuria
Neurodegeneration, Ataxia, Spasticity OMIM:222350
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Ataxia, Inability to walk, Cerebellar hypoplasia, Cerebral atrophy, Spasticity, Obesity... OMIM:618443
Rift Valley Fever
Paralysis, Retinitis, Infectious encephalitis, Retinal hemorrhage, Hepatitis, Anemia, Spontaneous... ORPHA:319251
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertrig... OMIM:613101
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Jaberi-Elahi Syndrome
Optic atrophy, Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Failure to thrive, Kypho... OMIM:617988
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Avian Influenza
Hypoalbuminemia, Infectious encephalitis, Pneumonia, Leukopenia, Elevated circulating creatine ki... ORPHA:454836
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Kyphosis, Tremor, Ataxia, Abnormal nerve conduction ve... ORPHA:101075
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Cerebellar dysplasia, Gliosis, Stereotypy, Tremor, Hyper... ORPHA:457240
Hypophosphatasia
Hypercalcemia, Failure to thrive in infancy, Craniosynostosis, Anemia, Recurrent fractures ORPHA:436
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Dec... ORPHA:247598
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Spastic Paraplegia 15, Autosomal Recessive
Babinski sign, Clonus, Peripheral axonal neuropathy, Retinal degeneration, Paraplegia, Spastic ga... OMIM:270700
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Familial Isolated Hyperparathyroidism
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Osteopenia, Infantile hypercalcemia, Generali... ORPHA:99879
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration, Choreoathetosis, Spastic tetraplegia, Abnormal mitochondrial... OMIM:300438
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia ORPHA:54057
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
X-Linked Neurodegenerative Syndrome, Bertini Type
Recurrent bronchopulmonary infections, Ataxia, Macular degeneration ORPHA:85334
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Paresthesia, Dysmetria, Hypogonadotropic hypogonadism, Motor axonal neuropathy, Abnormality of th... ORPHA:48431
Alg1-Cdg
Limitation of joint mobility, Hypoalbuminemia ORPHA:79327
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity OMIM:162600
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral ... ORPHA:848
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest... OMIM:607330
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Increased bone mine... OMIM:231095
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Lymphoproliferative Syndrome 2
Hepatomegaly, Severe varicella zoster infection, Pancytopenia, Recurrent infections, EBV encephal... OMIM:615122
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Inguinal hernia ORPHA:1655
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Trichohepatoenteric Syndrome 1
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... OMIM:222470
Propionic Acidemia
Dystonia, Hypoglycemia, Neutropenia, Failure to thrive, Osteoporosis, Anemia, Hyperglycinemia, Hy... OMIM:606054
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal sensory impairment, Mildly elevated creatine ki... OMIM:615376
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Decreased motor nerve conduction velocity, Babinski sign, Truncal titubatio... OMIM:610532
Neuroleptic Malignant Syndrome
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre... ORPHA:94093
Giant Axonal Neuropathy 1, Autosomal Recessive
Steppage gait, Motor axonal neuropathy, Facial palsy, Abnormal pyramidal sign, Sensory axonal neu... OMIM:256850
New-Onset Refractory Status Epilepticus
Global brain atrophy, Infectious encephalitis, Cerebellar edema ORPHA:363558
Cerebrotendinous Xanthomatosis
Global brain atrophy, Axonal degeneration, Paraparesis, Prolonged neonatal jaundice, Abnormal pyr... ORPHA:909
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Atopic dermatitis, Head titubation, Hypochromic microcytic anemia, Gliosis, Vestibular areflexia,... ORPHA:3240
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Irregular mye... OMIM:601382
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Gracile Bone Dysplasia
Asplenia, Failure to thrive, Decreased skull ossification, Hypocalcemia, Hypoplastic spleen OMIM:602361
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Paresthesia, Fasciculations, Somatic sensory dysfunction, Hand tremor, D... ORPHA:101085
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... OMIM:307200
Hepatoportal Sclerosis
Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoalbuminemia, Thrombocyto... ORPHA:64743
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Small for gestational age OMIM:616733
Q Fever
Myocarditis, Hepatomegaly, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Elevat... ORPHA:781
Nephronophthisis 15
Cerebellar vermis hypoplasia, Obesity, Hepatic failure, Retinal degeneration OMIM:614845
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Spinal deformities, Tongue fasciculations, Demyelinati... ORPHA:99949
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Dystonia, Peripheral axonal neuropathy, Facial diplegia, Kyphosis, Inability to... OMIM:611890
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Splenomegaly, Inability to walk, Flexion contracture, Hypoalbumi... OMIM:617303
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Subretinal fluid, Cystoid macular degeneration OMIM:153700
Leigh Syndrome
Eczema, Neutropenia, Abnormality of the optic nerve, Choreoathetosis, Involuntary movements, Dyst... ORPHA:506
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... ORPHA:86839
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Trophic limb changes, Axonal loss, Gliosis, Decreased nerve conduction velocity, Enhanced neuroto... OMIM:118301
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased bone mineral density ORPHA:37748
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Pontocerebellar Hypoplasia, Type 2A
Opisthotonus, Hypoplasia of the pons, Gliosis, Extrapyramidal dyskinesia, Cerebellar hypoplasia, ... OMIM:277470
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Ectopic ossification, Laryngeal dystonia,... ORPHA:79444
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Motor axonal neuropathy, Fasciculations, Atrophy of the spinal cord, Somatic sensory dysfunction,... ORPHA:466768
Idiopathic Non-Lupus Full-House Nephropathy
Arthritis, Elevated circulating creatinine concentration, Synovitis ORPHA:567544
Meningococcal Meningitis
Infectious encephalitis, Paresthesia, Papilledema, Skin rash, Elevated circulating C-reactive pro... ORPHA:33475
Saccharopinuria
Hypercystinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperammonemia, Tremor, Cit... ORPHA:3124
Azotemia, Familial
Azotemia OMIM:109160
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Calcinosis, Abnormal platelet function, Hypocalcemic seizures, Ectopic ossif... ORPHA:79443
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Decreased nerve conduction velocity, Kyphosis, Tremor,... ORPHA:101078
Reynolds Syndrome
Keratoconjunctivitis sicca, Hepatomegaly, Dysphagia, Infectious encephalitis, Arthritis, Cirrhosi... ORPHA:779
Adamantinoma
Hypercalcemia, Pathologic fracture ORPHA:55881
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Neurodegeneration With Brain Iron Accumulation 6
Gait disturbance, Dystonia, Rigidity, Neurodegeneration, Oromandibular dystonia, Motor axonal neu... OMIM:615643
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Neutropenia, Decreased prealbumin level, Neutropenia in p... ORPHA:37042
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Babinski sign, Dysphagia, Abnormal cranial nerve morphology, Rigidity, Shuffling gait, Gait ataxi... ORPHA:247234
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Gait disturbance, Impaired pain sensation, Kyphosis, Tremor, Ataxia, Paraparesis, ... ORPHA:99014
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ataxia, Retinal degeneration, Spasticity OMIM:225755
Srd5A3-Cdg
Optic atrophy, Cerebellar atrophy, Abnormal sacrum morphology, Optic disc hypoplasia, Rod-cone dy... ORPHA:324737
Aicardi-Goutieres Syndrome 9
Dystonia, Failure to thrive, Weight loss, Osteoporosis, Anemia, Hepatosplenomegaly, Hypoalbuminem... OMIM:619487
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Osteoporosis, Enamel hypoplasia, Obesity, Hyperphosphatemia OMIM:612462
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Unconjugated hyperbilirubinemia, Small for gestational age, Rickets, Failure to thr... OMIM:613658
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes