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Gene: Ireb2 MGI:1928268

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

iron responsive element binding protein 2

Synonyms:

Irp2, D9Ertd85e

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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 Ireb2 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.

Human diseases associated with Ireb2 (1 diseases)
Human diseases predicted to be associated with Ireb2 (1812 diseases)

The table below shows human diseases associated to Ireb2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia		Cerebral white matter atrophy, Reduced cerebral white matter volume, Microcytic anemia, Chorea, C...	OMIM:618451

The table below shows human diseases predicted to be associated to Ireb2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas...	OMIM:616860
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebra...	ORPHA:521406
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati...	ORPHA:766
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,...	ORPHA:48818
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia, Abnormality of iron homeostasis	ORPHA:75563
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A...	ORPHA:300298
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Parkinsonism, Cerebellar calcifications, Rigidity, Babinski sign, Limb atax...	OMIM:618824
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Atrophy/Degeneration affecting the br...	OMIM:614946
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ...	OMIM:617225
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Dystonia, Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dy...	OMIM:618317
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa...	OMIM:300423
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Dysphagia, Gait at...	OMIM:619862
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Diffuse cerebral atrophy, R...	OMIM:607136
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia, Scoliosis	OMIM:213000
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di...	OMIM:600116
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Limb dystonia, Parkinsonism, Gait ataxia, Bradyk...	ORPHA:71517
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Kyphosis, Unsteady gait, Abnormal pyramida...	OMIM:617435
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Neuroferritinopathy	Caudate atrophy, Writer's cramp, Chorea, Focal dystonia, Parkinsonism, Arm dystonia, Abnormal den...	ORPHA:157846
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Hypermanganesemia With Dystonia 2	Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst...	OMIM:617013
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scoliosis, Spastic paraparesis, Apra...	OMIM:615157
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Cerebellar calcifications, Chorea, Hand tremor, Athetosis, Thalami...	OMIM:615483
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl...	ORPHA:306692
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Hearing impairmen...	ORPHA:254886
Autosomal Dominant Spastic Paraplegia Type 3	Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle...	ORPHA:100984
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impair...	ORPHA:217012
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre...	ORPHA:248111
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls	OMIM:615945
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C...	ORPHA:98755
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased s...	ORPHA:98870
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the...	OMIM:609161
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Neuronal loss in central nervous...	OMIM:143100
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br...	ORPHA:210571
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, R...	OMIM:613280
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Spas...	ORPHA:363717
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin...	OMIM:619565
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Torticollis, Hearing impairment, Focal T2 hyperintense thalamic les...	OMIM:613724
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di...	ORPHA:314632
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia	OMIM:617836
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Microcytic anemia, Elevated circulating alanine aminotransferase ...	OMIM:618805
Spinocerebellar Ataxia 2	Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo...	OMIM:183090
Dietary Iron Overload Disease	Hepatic steatosis, Hepatomegaly, Viral hepatitis, Increased circulating ferritin concentration, E...	ORPHA:139507
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Scoliosis, Dystonia, Difficulty walking, Brain a...	ORPHA:306669
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Dysphagia, Bradykin...	OMIM:221820
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr...	OMIM:606069
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia	ORPHA:228169
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spastici...	OMIM:606159
Aceruloplasminemia	Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, A...	OMIM:604290
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon...	OMIM:611225
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad...	ORPHA:363710
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Hepatic steatosis, V...	ORPHA:101330
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s...	OMIM:618418
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Dystonia 12	Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dysphagia	OMIM:128235
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Iro...	ORPHA:329284
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho...	ORPHA:254881
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Dystonia, Elevated circulating creatine kinase concentration, Parkinsonism, I...	OMIM:258450
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo...	OMIM:231100
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyp...	OMIM:128100
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Mildly elevated creatine kinase, Hearing impairment, Distal sensory impairment	OMIM:614369
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,...	OMIM:610185
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi...	OMIM:603516
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Ataxia, T2 hypointense thalamus, Inability to walk, Unsteady gait, Spastic te...	ORPHA:1947
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Hear...	OMIM:300623
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Generalized dystonia, Po...	ORPHA:98808
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Spastic tetraplegia, Inability to walk, Decreased thalamic volume, Dystonia	OMIM:618646
Huntington Disease	Caudate atrophy, Clonus, Involuntary movements, Oral-pharyngeal dysphagia, Rigidity, Inability to...	ORPHA:399
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology, Ocul...	ORPHA:467166
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegen...	OMIM:615643
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho...	OMIM:603358
Infantile Dystonia-Parkinsonism	Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, A...	ORPHA:238455
Progressive Supranuclear Palsy-Corticobasal Syndrome	Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno...	ORPHA:240103
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Diffuse cerebral atrophy, Clonus, Decreased thalamic volume, Hypoplasia of the brainstem, Hyperto...	OMIM:613668
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Bradyki...	OMIM:261640
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Microcephaly, Periventric...	OMIM:619013
Sandhoff Disease, Adult Form	Dystonia, Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia...	ORPHA:309169
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Hypoplasia of the pons, Rigid...	ORPHA:98760
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria...	OMIM:618387
Leber Optic Atrophy And Dystonia	Dysphagia, Bradykinesia, Athetosis, Scoliosis, Dystonia, Spasticity, Upper motor neuron dysfunction	OMIM:500001
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia...	OMIM:617854
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Spinal Muscular Atrophy, Jokela Type	Elevated circulating creatine kinase concentration, Tremor, Distal sensory impairment, Fasciculat...	OMIM:615048
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Babinski sign...	OMIM:300055
Cach Syndrome	Cerebellar atrophy, T2 hypointense thalamus, Atrophy/Degeneration affecting the brainstem, Nonket...	ORPHA:135
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Villous atrophy, Microcytic ...	ORPHA:398063
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Kyphosis, Babinski sign,...	OMIM:614409
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Unsteady gait, Midline brainstem cleft, Hemiparesis, Scoliosis, Fusion of...	OMIM:617542
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Clumsiness, Ga...	ORPHA:98768
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to...	OMIM:616710
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Incoordination, Ataxia, Dystonia, Sensorineural hearing impairment, Truncal ataxia, Dysmetria, Ga...	OMIM:601338
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ...	ORPHA:446
Coasy Protein-Associated Neurodegeneration	Parkinsonism, Difficulty walking, Spastic paraparesis, Oromandibular dystonia, Abnormal thalamus ...	ORPHA:397725
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	ORPHA:79230
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor...	ORPHA:240085
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par...	OMIM:109150
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Hypertonia, Hepatomegaly, Abnormal blood inorganic cation concentration...	ORPHA:309854
X-Linked Dystonia-Parkinsonism	Resting tremor, Progressive extrapyramidal muscular rigidity, Protruding tongue, Chorea, Torsion ...	ORPHA:53351
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Cerebral atrophy,...	OMIM:617916
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Chorea, Ataxia	OMIM:618683
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia, Elevated circulating C-reactive protein concentration	OMIM:619398
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Abnormality of glycolipid metabolism, Tremor, Dysmetria, Dec...	ORPHA:845
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Partial agenesis of the corpus callosum, Simplified gyral pattern, Anemia, H...	OMIM:619302
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin...	OMIM:619911
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagi...	OMIM:302500
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,...	ORPHA:99750
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Impaired vibration sen...	OMIM:159550
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia...	OMIM:616291
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, T2 hypointense thalamus, Babinski sign, Gait disturbance, Myoclonus, Apraxia, Ce...	OMIM:618193
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Loss of ability to walk in early childhood, Elevated circulating creatine...	OMIM:612073
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Microcephaly, Increased circulating...	OMIM:600462
Copper Deficiency, Familial Benign	Decreased circulating copper concentration, Anemia	OMIM:121270
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait	OMIM:619052
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Bradykinesia, Frontotemporal cerebr...	ORPHA:412066
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si...	OMIM:606693
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concen...	OMIM:619405
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Rigidity, Tremor, Cerebral atrophy, Bradyki...	OMIM:300894
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Camptocormia, Postural tremor, Parkinsonism, Ri...	ORPHA:227510
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Lower limb spasticity, Tongue atrophy, Kyphoscoliosis, Babinski sign, Cerebra...	ORPHA:496689
Srd5A3-Cdg	Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Decreased response to growth hormone s...	ORPHA:324737
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Childhood-Onset Nemaline Myopathy	Waddling gait, Spinal rigidity, Neuromuscular dysphagia, Increased muscle lipid content, Clumsine...	ORPHA:171439
Mitochondrial Membrane Protein-Associated Neurodegeneration	Abnormal substantia nigra morphology, Dystonia, Parkinsonism, Rigidity, Babinski sign, Hand tremo...	ORPHA:289560
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Head titubation, Tremor, Rigidity, Inability to walk, Cerebral atrophy, G...	OMIM:618877
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bra...	ORPHA:13
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, My...	OMIM:615924
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Cardiomyopath...	OMIM:619046
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetri...	OMIM:611302
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Malaria	Elevated circulating C-reactive protein concentration, Anemia, Gait imbalance, Hyperbilirubinemia...	ORPHA:673
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis, Hearing impairment	ORPHA:101075
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor,...	OMIM:208920
Postencephalitic Parkinsonism	Resting tremor, Abnormal substantia nigra morphology, Camptocormia, Involuntary movements, Oculog...	ORPHA:97349
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Dystonia, Limb hyper...	OMIM:617384
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Spastic dys...	ORPHA:240094
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,...	OMIM:602390
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Cerebral white matter atrophy, Reduced cerebral white matter volume, Microcytic anemia, Chorea, C...	OMIM:618451
Adult-Onset Nemaline Myopathy	Neuromuscular dysphagia, Increased muscle lipid content, Bradykinesia, Poor fine motor coordinati...	ORPHA:171442
Familial Benign Copper Deficiency	Decreased circulating copper concentration, Anemia	ORPHA:1551
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Leigh Syndrome	Chorea, Gastrointestinal dysmotility, Choreoathetosis, Encephalomalacia, Complex organic aciduria...	ORPHA:506
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Hematochez...	OMIM:617718
Huppke-Brendel Syndrome	Cerebellar atrophy, Decreased circulating ceruloplasmin concentration, Decreased circulating copp...	OMIM:614482
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Scoliosis, Difficu...	OMIM:614018
Multiple System Atrophy	Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p...	ORPHA:102
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrho...	ORPHA:79278
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Lumbar hyperlordosis, Elevated ci...	ORPHA:370959
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas...	OMIM:612953
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykine...	ORPHA:225147
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Decreased thalamic volume, Hypoplasia of the brainstem, High palate, Cerebellar hypoplasia, Low-s...	OMIM:619072
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I...	OMIM:616756
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi...	ORPHA:276435
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainste...	OMIM:619301
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis, Hearing impairment	ORPHA:101078
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Parkinsonism With Polyneuropathy	Resting tremor, Diffuse cerebral atrophy, Rigidity, Bradykinesia, Parkinsonism with favorable res...	OMIM:619279
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Kyphosis, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of extrapyramidal ...	OMIM:610743
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl...	OMIM:137440
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p...	ORPHA:98933
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Hypospadias, Ataxia, Elevated circulating aspartate aminotransferas...	OMIM:610198
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity...	OMIM:616719
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar dysplasia, Dilated fourth ventricle, Ataxia, Elevated circulating creatine kinase conc...	ORPHA:370022
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diffuse cerebral atrophy, Increased circulating ferritin concentration, Vestibular areflexia, Hyp...	ORPHA:3240
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Torticollis, Kyphoscoliosis, In...	ORPHA:300570
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Babinski sign, Protein-losing enteropathy, Hyperglycinemia	OMIM:619063
Combined Oxidative Phosphorylation Defect Type 7	Thoracic scoliosis, Ataxia, Oral-pharyngeal dysphagia, Abnormal brainstem MRI signal intensity, I...	ORPHA:254930
Cln3 Disease	Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Generalized cerebral ...	ORPHA:228346
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l...	ORPHA:94124
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyper...	OMIM:617404
Spastic Paraplegia 5A, Autosomal Recessive	Lower limb spasticity, Postural tremor, Impaired distal proprioception, Abnormal cerebellum morph...	OMIM:270800
Oculoskeletodental Syndrome	Hypercalcemia, Hyperlordosis, Sensorineural hearing impairment, Thoracic kyphosis, Hypocalcemia, ...	ORPHA:557003
Japanese Encephalitis	Hyponatremia, Abnormal substantia nigra morphology, Weakness due to upper motor neuron dysfunctio...	ORPHA:79139
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Hig...	OMIM:619750
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Microcephaly, Dysplastic corpus callosum, Lacticaciduria, Renal hypop...	OMIM:604273
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Very long chain fatty acid accumulation, Ataxia, Tremor, Sensorineural hearin...	OMIM:614867
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph...	ORPHA:2585
Peroxisome Biogenesis Disorder 8B	Very long chain fatty acid accumulation, Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambu...	OMIM:614877
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Intestinal pseudo-obstruction, Impaired distal proprioception, Abno...	ORPHA:70595
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, Generalized cerebral ...	ORPHA:36387
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Mitochondrial Dna Depletion Syndrome 18	Falls, Lacticaciduria, Microcytic anemia	OMIM:618811
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Cerebellar hypoplasia, Limb dystonia, Hearing impairment	OMIM:620270
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,...	OMIM:618090
Dilated Cardiomyopathy With Ataxia	Bilateral basal ganglia lesions, Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Micr...	ORPHA:66634
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Poor motor coordination, Parkinsonism, Cerebral atrophy, Clumsiness, Poor fin...	ORPHA:79264
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Methylmalonic...	OMIM:236270
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Elevated circulating C-reactive protein concentration, Dysplastic corpus callosum, ...	OMIM:619423
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Lower limb spasticity, Broad-based gait, Elevated circulating creatine kinase conc...	OMIM:615290
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Ina...	OMIM:618276
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem MRI signal intensity, Rigidity, Abnormal brainstem morphology, Spastic tetrapl...	ORPHA:88619
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Myoclonus, Hearing impairment	OMIM:619057
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Micro...	OMIM:251900
Spinocerebellar Ataxia Type 2	Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce...	ORPHA:98756
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Impai...	ORPHA:251282
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum, Thrombocytopenia	OMIM:166990
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Impaired vibration sensation in the lower limbs, Clumsiness, Abnormal circulating creatine kinase...	ORPHA:521411
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Splenomegaly, Microcytic anemia	OMIM:618852
Spinocerebellar Ataxia 48	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Anemia, Intestinal atresia	ORPHA:3405
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Dystonia, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebr...	OMIM:610217
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Cerebra...	OMIM:607250
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Ataxia, Thrombocytopenia, Hyperammonemia, C...	ORPHA:27
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Rigidity, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Gait ataxi...	ORPHA:93256
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal pyramidal sign,...	ORPHA:240071
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Atrial septal defect, Absent septum pellucidum, Microcephaly, Microvesicular hepati...	OMIM:300868
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Decreased proportion of CD8-positive ...	ORPHA:217260
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Kyphosis, Cleft palate, Protruding ear, Gait disturbance, Scoliosis	ORPHA:85317
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia,...	OMIM:168600
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:613643
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Fusion of the cerebellar hemispheres, Agenesis of cerebellar v...	ORPHA:59315
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga...	OMIM:616127
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Degeneration of anterior horn cells, ...	OMIM:159950
Roussy-Lévy Syndrome	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai...	ORPHA:3115
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho...	ORPHA:79263
Abetalipoproteinemia	Fat malabsorption, Abetalipoproteinemia, Ataxia, Acanthocytosis	OMIM:200100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ...	OMIM:117360
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Abnormal lower motor neuron morphology, High-frequency sensorineural hearing impai...	ORPHA:2590
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Writer's cramp, Involuntary move...	ORPHA:98759
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Atypical Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Tongue atrophy, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, F...	ORPHA:216873
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri...	OMIM:256731
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical atrophy, Ce...	ORPHA:33445
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Cerebral calcification, Akinesia, Microcephaly, Hy...	OMIM:619147
Dravet Syndrome	Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina...	ORPHA:33069
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Microcytic anemia, Dysphagia, Polymi...	OMIM:612379
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst...	OMIM:620317
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop...	OMIM:604213
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Microcephaly, Microcytic anemia, High palate, HbH hemoglobin	ORPHA:98791
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Chorea, Hyperammonemia, Renal tubular dysfun...	ORPHA:289916
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Gait disturbance, Scoliosis, Hear...	ORPHA:99014
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Sensorineural hearing impairment, Babins...	OMIM:302800
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Broad-based gait, Neoplasm of the pancreas, Hyp...	ORPHA:2959
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl...	OMIM:619028
Primary Progressive Freezing Gait	Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Shuffling gait, D...	ORPHA:75567
Sandhoff Disease	Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Abnormal glycosphingolipid metabolism, Hearing impa...	ORPHA:796
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Rigidity, Bradykinesia	ORPHA:306686
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J...	OMIM:603552
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Cardiomegaly, Splenomegaly, Increased circ...	ORPHA:465508
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s...	ORPHA:93952
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he...	OMIM:243150
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal thalamic MRI signal intensity, Hypoalbuminemia, Prolonged neonatal jau...	ORPHA:529808
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Scoli...	ORPHA:330050
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Kypho...	ORPHA:466722
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal thalamic MRI signal intensity, Hypoalbuminemia, Prolonged neonatal jau...	ORPHA:529799
Blue Rubber Bleb Nevus	Gastrointestinal infarctions, Intestinal bleeding, Volvulus, Microcytic anemia	ORPHA:1059
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, ...	OMIM:620158
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Joubert Syndrome 25	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Cerebellar hypoplasia	OMIM:616781
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Adenohypophysitis	Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency...	ORPHA:95512
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuf...	OMIM:168601
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e...	OMIM:619991
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy...	ORPHA:139485
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Truncal ataxia, Dysmetria, Gait...	OMIM:210000
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Malabsorption, Basal ganglia calcification, Athet...	OMIM:229050
Panhypophysitis	Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency...	ORPHA:95513
Pelizaeus-Merzbacher Disease	Broad-based gait, Ataxia, Reduction of oligodendroglia, Cerebral dysmyelination, Microcephaly, In...	OMIM:312080
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Cerebral atrophy, Increased m...	OMIM:613839
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hypomethioninemia, Megaloblastic anemia, Cerebral atrophy, Hyperhomocystinemia, Gait disturbance,...	OMIM:250940
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Rett Syndrome	Increased serum pyruvate, Limb apraxia, Inability to walk, Hyperammonemia, Bradykinesia, Gait dis...	ORPHA:778
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Choreoathetosi...	ORPHA:79312
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Parkinsonian-Pyramidal Syndrome	Substantia nigra gliosis, Dystonia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sig...	ORPHA:171695
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Dysphagia, Gait ataxia, Limb ataxia, Cogwheel rigidity, Prog...	OMIM:607346
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Microcephaly, Microcytic anemia, Hematuria, Abnormal t...	ORPHA:90308
Atransferrinemia	Abnormality of the liver, Hypochromic anemia, Atransferrinemia	OMIM:209300
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Protruding ear, Scoliosis	OMIM:300861
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:614727
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Kyphosis, Babins...	ORPHA:88644
Progressive Supranuclear Palsy	Dystonia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dysphagia, Neurona...	ORPHA:683
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di...	ORPHA:98764
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ...	ORPHA:2070
Trichohepatoenteric Syndrome 1	Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Hypospadias, Incre...	OMIM:222470
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Ga...	OMIM:615530
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Dysmetria, Hypochromic microcytic anemia, Dysdiadochokinesis, Nonprogressiv...	OMIM:301310
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Combined Oxidative Phosphorylation Deficiency 45	Ataxia, Short neck, Tremor, High palate, Low-set ears	OMIM:618951
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Hyperphenylalaninemia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia	OMIM:261630
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Dysphagia, Postlingual sensorineural hearing impairment, Dystonia, Progressiv...	OMIM:304700
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Cog2-Cdg	Diffuse cerebral atrophy, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:435934
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellula...	OMIM:612016
3P25.3 Microdeletion Syndrome	Sacral dimple, Ataxia, High, narrow palate, Pyloric stenosis, Sensorineural hearing impairment, C...	ORPHA:435638
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Acute Disseminated Encephalomyelitis	Viral hepatitis, Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal brainstem M...	ORPHA:83597
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Diffuse cerebral atrophy, Decreased circulating ceruloplasmin conc...	OMIM:617395
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Dystonia, Elevated circulating creatine kinase concentration, Elevated circul...	OMIM:606002
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Distal sensory impairment, Difficulty walking, Scoliosis, Hearing impairment	OMIM:617087
Urocanic Aciduria	Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax...	ORPHA:210128
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr...	OMIM:617810
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Cerebral calcification, Microcephaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Cerebral calcification, Microcephaly, Splenomegaly, Loss of ambul...	OMIM:615010
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Dystonia, Ataxia, Elevated circulating creatine kinase concentration...	ORPHA:64753
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Dystonia, Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, ...	ORPHA:500180
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic move...	OMIM:619738
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d...	OMIM:614898
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Bradykinesia, Lower limb spasticity	OMIM:618878
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosis, Dystonia, Reduced haptoglobin level	OMIM:612126
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated...	OMIM:615673
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho...	OMIM:300718
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Cerebral calcification, Hepatosplenomegaly, Abnormal cerebral whit...	OMIM:610329
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Scoliosis, Spasticit...	OMIM:609260
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Scoliosis, Spastic para...	ORPHA:101077
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Hypertriglyceridemia, High palate, Primary microcephaly	OMIM:618010
Pancreatic Colipase Deficiency	Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi...	ORPHA:309108
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Abnormal medulla obl...	ORPHA:206448
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Thrombocytopenia	ORPHA:2123
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba...	OMIM:609270
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Mitochondrial Dna Depletion Syndrome 19	Hypospadias, Hypoplasia of the corpus callosum, Microcytic anemia	OMIM:618972
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ...	ORPHA:199351
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Microcephaly, Hemolytic-uremic syndrome, Hype...	ORPHA:2169
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi...	ORPHA:1170
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ...	OMIM:618372
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Elevated circulating alpha-fe...	OMIM:616267
Stxbp1-Related Encephalopathy	Inability to walk, Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia	ORPHA:599373
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Cerebral ...	OMIM:614857
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit...	ORPHA:90117
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Proteinuria, Thrombocytopenia	OMIM:189800
Manganese Poisoning	Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyram...	ORPHA:306682
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia, Kyphoscoliosis	OMIM:619099
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Li...	ORPHA:3095
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Increased mean platelet volume, ...	ORPHA:182050
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym...	ORPHA:84064
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,...	OMIM:615491
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py...	ORPHA:101070
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Plummer-Vinson Syndrome	Tongue atrophy, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal web, Dysphagia,...	ORPHA:54028
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L...	ORPHA:319199
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-losing ent...	OMIM:175500
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Scoliosis, Dystonia, Loss of ...	OMIM:611390
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis	OMIM:614602
Saccharopinuria	Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Distal sensory impairment...	ORPHA:3124
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Abnormality of the...	OMIM:614307
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Kyphosis, Limb at...	OMIM:248800
4H Leukodystrophy	Cerebellar atrophy, Dystonia, Ataxia, Decreased response to growth hormone stimulation test, Trem...	ORPHA:289494
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Microcephaly, Thrombocytopenia, Leukocy...	OMIM:259720
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Tip-toe gait, Gait disturbance...	ORPHA:216866
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlo...	OMIM:606612
Takenouchi-Kosaki Syndrome	Cerebellar atrophy, Hypospadias, Ataxia, Unilateral renal agenesis, Increased mean platelet volum...	OMIM:616737
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168605
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor,...	ORPHA:98771
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D...	ORPHA:228360
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Elevated hepatic transaminase, Resting tremor, Ataxia, Elevated circulating c...	ORPHA:254892
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum	OMIM:613162
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Accessory spleen, Cerebellar vermis hypoplasia, Spastic tetraplegia, Hy...	OMIM:619306
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Elevate...	OMIM:614298
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Methylmalonic ac...	OMIM:277410
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Dysphagia, Lethargy, Hypertrop...	OMIM:613561
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P...	ORPHA:97355
Hereditary Cryohydrocytosis With Reduced Stomatin	Intracerebral periventricular calcifications, Spontaneous hemolytic crises, Ataxia, Microcephaly,...	ORPHA:168577
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Babinski...	OMIM:600363
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Narrow palate, Dysmetria, ...	OMIM:616505
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Axonal degeneration, Tetraplegia, Hand tremor, Distal sensory impairment, Degener...	OMIM:604484
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Renal insufficiency, Cerebellar vermis hypoplasia, Hypospadias, Microcephaly,...	OMIM:611209
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Positive ferric chloride test, Aminoaciduria, Elevated urinary formiminoglu...	OMIM:229100
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Fr...	OMIM:617691
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, A...	OMIM:230650
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ataxia, Ventricular septal defect, Situs inversus totalis, Thiamine-respons...	OMIM:249270
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Abnormal circulating glutamine c...	ORPHA:101028
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Elevated circulating C-reactive protein concentration, Increased c...	OMIM:616050
Formiminoglutamic Aciduria	Megaloblastic anemia, Abnormal circulating histidine concentration, Atrial septal defect, Abnorma...	ORPHA:51208
Hsd10 Disease	Ataxia, Tremor, Rigidity, Gastrointestinal dysmotility, Choreoathetosis, Frontotemporal cerebral ...	ORPHA:391417
Spinocerebellar Ataxia, Autosomal Recessive 31	Dystonia, Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, High palate, Lumbar kyphoscoliosis, ...	OMIM:619422
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ...	ORPHA:401768
Intellectual Developmental Disorder, X-Linked 104	Ataxia, Abnormal pinna morphology, Tremor, High palate, Spasticity, Cerebral cortical atrophy	OMIM:300983
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Microcephaly, Abnormal circulating glycine concentrat...	ORPHA:79096
Crigler-Najjar Syndrome Type 1	Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro...	ORPHA:79234
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, L-2-hydroxyglutaric acidemia, Ataxia, Corpus callosum atrophy, Leukoencephalo...	OMIM:236792
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular septal defect, ...	OMIM:620135
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia	OMIM:301095
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S...	OMIM:612716
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Decreased serum iron, Esophageal stricture, Dysphagia, Anemia,...	ORPHA:89842
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Caudate atrophy, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abn...	ORPHA:363400
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont...	OMIM:146500
Rhabdoid Tumor	Hypercalcemia, Hematuria, Anemia, Neoplasm of the liver, Thrombocytopenia	ORPHA:69077
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Spleno...	OMIM:235200
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, A...	ORPHA:458803
Spinocerebellar Ataxia Type 36	Tongue atrophy, Ataxia, Hearing impairment, Loss of Purkinje cells in the cerebellar vermis, Babi...	ORPHA:276198
Paroxysmal Nocturnal Hemoglobinuria	Odynophagia, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Lethargy,...	ORPHA:447
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Meckel Syndrome 13	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Cerebellar hypoplasia	OMIM:617562
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia	OMIM:137560
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Parkinsonism, Impaired distal proprioception, Rigidity, Sensorineural hearing imp...	OMIM:157640
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Ataxia, Kyphosis, Sensorineural hearing impairment, Unstead...	ORPHA:464282
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Elongated supe...	OMIM:609583
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia...	OMIM:267700
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Inability to wa...	OMIM:613155
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Microcephaly, Hepatospleno...	ORPHA:263501
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity	OMIM:616494
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia	ORPHA:2134
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Impaired pain sensation, Kyphosis, High, narrow palate, Unsteady gait, Distal sensory imp...	OMIM:618124
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Impaired ristocetin-induced platelet aggregation, Giant platelets, M...	OMIM:231200
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho...	OMIM:611890
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Intestinal malrotation, Kyphosis, Cleft palate, Scoliosis, Low-set ears, Abnormal thalamus morpho...	ORPHA:404440
Dermatitis Herpetiformis	Malabsorption, Microcytic anemia	ORPHA:1656
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia, Scoliosis, Abnormality of the ...	ORPHA:48431
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating creatine kinase concentration, Tremor, Chorea, Achalasia, Hepatic steatosis,...	OMIM:615356
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Masa Syndrome	Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait	OMIM:303350
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagi...	OMIM:607694
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Ataxia, Tremor, Gastrointestinal dysmotility, Cerebral atrophy, Dysphagia	OMIM:618637
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Ataxia, Tongue fasciculations	OMIM:620007
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Pseudo-Torch Syndrome 3	Cerebral calcification, Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, ...	OMIM:618886
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration, Abnormal intestine morphology	ORPHA:209981
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with...	OMIM:607060
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
3-Methylglutaconic Aciduria Type 4	Microcephaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Dysgenesis o...	ORPHA:67048
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis, Increased erythrocyte prot...	OMIM:300752
Hereditary Methemoglobinemia	Cerebellar atrophy, Microcephaly, Temporal cortical atrophy, Athetosis, Frontal cortical atrophy,...	ORPHA:621
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnorm...	OMIM:234200
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Ataxia, Ventricular septal defect, Microcephaly, Inability to walk, Par...	ORPHA:79243
Alg8-Cdg	Hyponatremia, Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Ataxia, L...	ORPHA:79325
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Cerebellar vermis hypoplasia, Thrombocytopenia	OMIM:604498
Mevalonic Aciduria	Cerebellar atrophy, Normocytic hypoplastic anemia, Elevated hepatic transaminase, Agenesis of cer...	OMIM:610377
Parkinson-Dementia Syndrome	Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign	OMIM:260540
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas...	OMIM:258900
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Hyperlipidemia, Protein-losing enteropathy, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Birk-Aharoni Syndrome	Macrocytic anemia, Microcephaly, Inability to walk, Chorea, Muscular ventricular septal defect, M...	OMIM:620071
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Hepatocellular c...	ORPHA:64743
Acatalasemia	Microcytic anemia	ORPHA:926
Sandhoff Disease, Infantile Form	Exaggerated startle response, Abnormal thalamic MRI signal intensity, Hepatosplenomegaly, Myoclon...	ORPHA:309155
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia, Crohn's disease, Elevated circulating ...	OMIM:619632
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Scoliosis, Eyelid myoclonus	OMIM:616421
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cerebral calcification, Microcephaly, Cardiomegaly, ...	ORPHA:858
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Kyphoscoliosis, Abnormal cerebellum morphology, Babins...	OMIM:275900
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol...	OMIM:615710
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Hepatomegaly, Pancytopenia, Cerebral calcification, Elevated hepatic transami...	OMIM:610333
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral calcification, Intestinal perforation, Hematemesis, Abnorma...	ORPHA:464321
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Cerebral dysmyelination, Microcephaly, Microcytic anemia, Micropenis, Bifid uvula	ORPHA:293967
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Hypergly...	OMIM:606054
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Elevated circulating alpha-fetoprotein concentration, Impaired vibration sensation in the lower l...	ORPHA:95433
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Cerebral calcification, Eosinophilia, Thrombocytopenia, Splenomegaly,...	OMIM:226990
Forsythe-Wakeling Syndrome	Nephrotic syndrome, Thrombocytopenia, Microcephaly	OMIM:613606
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Macrocytic anemia, Ataxia, Corpus callosum atrophy, Basal ganglia calcificati...	ORPHA:98673
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cerebr...	OMIM:616084
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Kyphosis, Spastic tetraplegia, Dystonia, Hearing impairment	OMIM:618237
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Hereditary Late-Onset Parkinson Disease	Resting tremor, Dystonia, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Shuffling gait, Dysphag...	ORPHA:411602
Preeclampsia	Elevated hepatic transaminase, Helicobacter pylori infection, Proteinuria, Chronic kidney disease...	ORPHA:275555
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Hepatitis, Hypochromic microcytic anemia, Cholestasis, ...	ORPHA:440713
Fanconi Anemia, Complementation Group G	Microcephaly, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Tremor, Dysmetria, Increased muscle glycogen content, Progressive ce...	ORPHA:502423
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,...	OMIM:617675
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Large fleshy ears, Hypertonia, Thoracic ...	OMIM:619092
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Kyphosis, Inability to walk, Cerebellar vermis...	OMIM:617988
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity...	ORPHA:542310
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Truncal ataxia, Dysmetria, Progressiv...	OMIM:183086
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic ...	OMIM:613845
Cataract-Ataxia-Deafness Syndrome	Ataxia, Tremor, Sensorineural hearing impairment, Hypertonia, Adult onset sensorineural hearing i...	ORPHA:1368
Joubert Syndrome 13	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:614173
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Megaloblastic anemia, Paresthesia, Atrial septal defect, Lethargy, Thr...	ORPHA:49827
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Hyperphenylalanin...	OMIM:233910
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu...	OMIM:277900
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Hypoplastic helices, Spasticity, Oromotor apraxia, Decreased serum iron	ORPHA:391372
Chylomicron Retention Disease	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Increased hepatocellular ...	ORPHA:71
Diabetes Mellitus, Permanent Neonatal, 4	Reduced C-peptide level, Elevated hemoglobin A1c	OMIM:618858
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Elevated hepatic transami...	OMIM:603553
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Granulovacuo...	OMIM:601104
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Ataxia, Microcytic anemia, Microcephaly, Protruding tongue, Leukocyto...	ORPHA:99843
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Abnormal brainstem morphology, Hypertonia, High palate, Aplasia/Hypoplasia of the cerebel...	ORPHA:2720
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas...	OMIM:612438
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hyperlordosis, Tremor, Sensorineural hearing impairment, Hypertonia, Gait disturbance, Aplasia/Hy...	ORPHA:1192
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Ataxia, Elevated circulating alpha-fetoprotein concentration, Dysmetria, Dist...	OMIM:615217
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic transami...	ORPHA:1667
Fetal Parvovirus Syndrome	Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia	ORPHA:295
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Sensorineural hearing impairment, Scoliosis, Short neck	ORPHA:2744
Phosphoglycerate Dehydrogenase Deficiency	Primary microcephaly, Cerebral dysmyelination, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Coach Syndrome 2	Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Oculomo...	OMIM:619111
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Ventricular septal...	OMIM:614576
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa...	OMIM:618624
H Syndrome	Hypertriglyceridemia, Microcytic anemia, Malabsorption, Hepatosplenomegaly, Micropenis, Enlarged ...	ORPHA:168569
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic c...	ORPHA:2524
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Dysphagia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar ...	OMIM:614229
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness,...	OMIM:277460
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Renal insufficiency, Proteinuria, Unsteady gait, Gait ataxia, Nephrotic syndr...	OMIM:254900
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology	OMIM:613502
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Microcepha...	OMIM:615438
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Oculopharyngodistal Myopathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Sensorineural hearing impairm...	OMIM:619473
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Glossitis, Pancytopenia, Hepatomegaly, Dextrocardia, Megaloblastic anemia...	OMIM:277380
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Increased stool urobilinogen concentration, Abno...	ORPHA:79277
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Ataxia, Kyphosis, Abnormal cerebellum morphology, Sensorineural hearing impairmen...	OMIM:211530
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Abnormal globus pallidus morphology, Stage 5 chronic kidney...	OMIM:251000
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Somatostatinoma	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype...	ORPHA:97283
Bethlem Myopathy 2	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:616471
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola...	OMIM:609454
Joubert Syndrome 32	Molar tooth sign on MRI, Abnormal cerebellum morphology, Oculomotor apraxia, Ataxia	OMIM:617757
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Inability to walk, Macrotia, Waddling gait	OMIM:616269
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Gastrointestinal dysmotility, Axonal degeneration, Impaired...	ORPHA:88628
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto...	OMIM:598500
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Dystonia, Kyphoscoliosis, Tremor, Inability to walk, Choreoathetosis, Gastroe...	OMIM:617664
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Barth Syndrome	Cyclic neutropenia, Dilated cardiomyopathy, Hypochromic microcytic anemia, 3-Methylglutaconic aci...	OMIM:302060
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Megaloblastic anemia, Cerebral atr...	OMIM:222300
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Aganglionic megacolon, Microcepha...	ORPHA:171680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Elevated circulating creatine kinase concentration, Type II lissen...	OMIM:613153
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Lower limb spasticity, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, ...	ORPHA:352641
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Spasticity, Abnormal thalamic MRI signal intensity, Dysphagia	ORPHA:485421
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Diabetes Mellitus, Transient Neonatal, 3	Reduced C-peptide level, Elevated hemoglobin A1c	OMIM:610582
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Kyphosis, Axonal degeneration, Elevated circulating creatine kinase concentration	OMIM:618138
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal astrocyte morphology, Elevated circulating creatine kinase concentra...	ORPHA:168486
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Microcephaly, Thrombocytopenia, Neutropenia...	OMIM:617243
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episodi...	OMIM:312170
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc...	ORPHA:529665
Majeed Syndrome	Hepatomegaly, Proteinuria, Congenital hypoplastic anemia, Malabsorption, Splenomegaly, Leukocytos...	ORPHA:77297
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti...	OMIM:619644
Choreoacanthocytosis	Caudate atrophy, Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Limb dys...	ORPHA:2388
Cdkl5-Deficiency Disorder	Impaired pain sensation, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis	ORPHA:505652
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Spastic tetraplegia, Chiari type I malforma...	OMIM:618476
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fancon...	OMIM:557000
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic...	ORPHA:209335
Meningioma	Back pain, Enlarged pituitary gland, Hemifacial spasm, Abnormal central motor function, Ataxia, R...	ORPHA:2495
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Cerebral calcification, Microcephaly, Secundum atria...	OMIM:617397
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c, Exocrine pancreatic insufficiency	OMIM:609812
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Hypoplasia of the pons, Anterior hypopituitarism, Anteriorly placed...	ORPHA:280195
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increase...	ORPHA:158048
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Difficulty ...	OMIM:255125
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Camptocormia, Involuntary movements, Chorea, Choreoathetosis, Limb hypertonia, My...	OMIM:606703
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Dysmetria, Ce...	ORPHA:572798
Cernunnos-Xlf Deficiency	Microcephaly, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Cerebellar hypoplasia	OMIM:619556
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	OMIM:600175
New-Onset Refractory Status Epilepticus	Cerebellar edema, Abnormal thalamic MRI signal intensity, Global brain atrophy	ORPHA:363558
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal ...	OMIM:619574
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Anemia, Perimembranous ...	OMIM:608104
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Polysplenia, Duodenal atresia	OMIM:619608
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor, Megaloblastic anemia	OMIM:243320
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Malabsorption, Iron deficiency anemia, Hypoalbuminemia, Abn...	OMIM:226300
Baralle-Macken Syndrome	Inability to walk, Kyphosis, High, narrow palate, Dystonia, Spasticity, Global brain atrophy	OMIM:619255
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Microcephaly, Inability to walk, High nonceruloplasmin-bound serum copper, Hypoplasia of the corp...	ORPHA:457351
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal...	ORPHA:171629
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Abnormal circulating ceruloplasmin concentration, Cerebral atrophy, Abnormal ...	OMIM:620306
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Imerslund-Grasbeck Syndrome 1	Somatic sensory dysfunction, Proteinuria, Megaloblastic anemia, Paresthesia, Microscopic hematuria	OMIM:261100
Joubert Syndrome 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Hypoplasia of...	OMIM:610688
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Cerebral calcification, Ataxia, Celiac disease,...	OMIM:212750
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Microcephaly,...	OMIM:619743
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bradykinesia, Slowed slurred speech	OMIM:619827
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi...	OMIM:607155
Hemifacial Atrophy, Progressive	Kyphosis, Tongue atrophy, Microtia, Ataxia	OMIM:141300
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In...	ORPHA:210136
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dy...	OMIM:614381
Sialidosis Type 2	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Kyphosis, Hearing impairment	ORPHA:87876
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
East Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Sensorineural hearing impairment, Hypokalemia, Inc...	ORPHA:199343
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic ac...	OMIM:251110
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Decreased circu...	OMIM:300972
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign...	ORPHA:306674
Episodic Ataxia Type 1	Cerebellar atrophy, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, T...	ORPHA:37612
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia, Microcephaly	OMIM:615715
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Decreased serum zinc, Lethargy	OMIM:201100
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Elevated circulating creatine kinase co...	OMIM:301056
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Alg1-Cdg	Abnormality of the gastrointestinal tract, Cerebellar atrophy, Kyphosis, Cerebral atrophy, Protei...	ORPHA:79327
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Neuromuscu...	ORPHA:206443
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Spasticity, Gait disturbance, Scoliosis	ORPHA:2429
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
X-Linked Agammaglobulinemia	Malabsorption, Hepatitis, Anemia, Glossoptosis, Hypocalcemia, Neutropenia, Thrombocytopenia	ORPHA:47
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina...	ORPHA:52368
Pelizaeus-Merzbacher Disease, Classic Form	Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno...	ORPHA:280219
Griscelli Syndrome	Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Jaundice, Hepat...	ORPHA:381
Babesiosis	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic ...	ORPHA:108
Thyrocerebrorenal Syndrome	Thrombocytopenia, Renal insufficiency, Nephritis, Nonprogressive cerebellar ataxia	ORPHA:3327
Slc39A8-Cdg	Cerebellar atrophy, Abnormal blood zinc concentration, Inability to walk, Abnormality of the live...	ORPHA:468699
Diabetes Mellitus, Permanent Neonatal, 1	Reduced C-peptide level, Elevated hemoglobin A1c	OMIM:606176
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Hematemesis, Thrombocytopeni...	ORPHA:906
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Esopha...	ORPHA:774
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity	ORPHA:2828
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Celiac disease, ...	ORPHA:199299
Holocarboxylase Synthetase Deficiency	Ataxia, Hyperammonemia, Organic aciduria, Lethargy, Thrombocytopenia	ORPHA:79242
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Dystonia, Ataxia, Head titubation, Kyphosis, Hypoplasia of the pons, Dysmetri...	OMIM:619708
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Dystonia, Truncal titubation, Rigidity, Chorea, Babinski sign, Abnormal pyramidal sign, Parapares...	OMIM:607483
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscul...	OMIM:127550
Charcot-Marie-Tooth Disease And Deafness	Tremor, Sensorineural hearing impairment, Distal sensory impairment, Steppage gait, Gait disturbance	OMIM:118300
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional abnormality of ...	ORPHA:90362
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Ventricular septal defect, Microcephaly, Protruding tongue, Reduced alpha/beta synth...	OMIM:301040
Slc35A2-Cdg	Cerebellar atrophy, Elevated hepatic transaminase, Increased circulating thyroglobulin level, Abn...	ORPHA:356961
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Truncal titubation, Abnormal cerebellum morphol...	OMIM:618056
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Dysmetria, Cerebral atrophy, Leukoencephalo...	OMIM:617710
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Mucolipidosis Iv	Cerebellar atrophy, Achlorhydria, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callos...	OMIM:252650
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Elevated circulating creatine kinase concen...	OMIM:607426
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Cerebral calcification, Proteinuria, Microcephaly, Inability to walk, Thrombocytope...	OMIM:617303
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Paraparesis, Inability to walk, Atrop...	ORPHA:2822
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulone...	OMIM:619525
Coach Syndrome 3	Renal insufficiency, Ataxia, Stage 5 chronic kidney disease, Portal fibrosis, Nephronophthisis, M...	OMIM:619113
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent...	OMIM:608799
Joubert Syndrome 33	Molar tooth sign on MRI, Splenomegaly, Oculomotor apraxia, Ataxia	OMIM:617767
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Combined Oxidative Phosphorylation Deficiency 18	Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Methylmalonic aciduria, Dysmetria	OMIM:615578
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Kyphosis, Macrotia, Posteriorly rotated ears	OMIM:618392
Snakebite Envenomation	Hyponatremia, Neuromuscular dysphagia, Pseudobulbar paralysis, Hypopituitarism, Acute kidney inju...	ORPHA:449285
Hamamy Syndrome	Microcytic anemia, Complete atrioventricular canal defect, High palate, Hypochromic anemia, Atria...	OMIM:611174
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Joubert Syndrome 35	Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Low-set ears, Molar tooth sign on MRI, ...	OMIM:618161
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Atelis Syndrome 1	Ventricular septal defect, Anemia, Leukopenia, High palate, Atrial septal defect, Thrombocytopenia	OMIM:620184
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Ataxi...	ORPHA:167
Aicardi-Goutieres Syndrome 5	Intracerebral periventricular calcifications, Microcephaly, Basal ganglia calcification, Deep whi...	OMIM:612952
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Cerebral calcification, Proteinuria, Focal hypoin...	ORPHA:247691
Pituitary Apoplexy	Hyponatremia, Decreased response to growth hormone stimulation test, Elevated circulating growth ...	ORPHA:95613
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Atrial septal defect, Ventricular septal def...	OMIM:208085
Joubert Syndrome 31	Molar tooth sign on MRI, Oculomotor apraxia, Truncal ataxia	OMIM:617761
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Cere...	ORPHA:442835
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Tremor, Hyperkinetic movements, Upper limb...	ORPHA:457240
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Intracerebral periventricular calcifications, Cerebe...	OMIM:225750
Primary Dystonia, Dyt4 Type	Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Upper limb postural tre...	ORPHA:98805
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Hepatitis, L...	OMIM:304790
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Microcephaly, Inability to walk, Gastroesophageal reflux, Hypoplasia of the corpus callosum, Thin...	OMIM:616577
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Cerebral calcification, Ataxia, Microcephaly, Anemia, Cerebellar h...	ORPHA:3322
Joubert Syndrome With Renal Defect	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, T...	ORPHA:220497
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Microcephaly, Splenomegaly, Jaundice, Anemia, Atrial sep...	ORPHA:290
Congenital Enterovirus Infection	Abnormal macrophage morphology, Pericardial effusion, Thrombocytopenia, Leukocytosis, Myocarditis...	ORPHA:292
Autosomal Dominant Spastic Paraplegia Type 9A	Low back pain, Tremor, Abnormal cerebellum morphology, Corpus callosum atrophy, Babinski sign, Ab...	ORPHA:447753
Pelizaeus-Merzbacher Disease	Ataxia, Kyphosis, Choreoathetosis, Gait disturbance, Scoliosis, Dystonia, Spasticity, Cerebral co...	ORPHA:702
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Col...	OMIM:174900
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance	OMIM:603472
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inabi...	OMIM:618443
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Villous atrophy, Cerebellar vermis hypoplasia, Hepa...	OMIM:212065
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, Spastic tetr...	OMIM:619909
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Microcephaly, Cle...	OMIM:619980
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc...	OMIM:612714
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Elevated circulating creatine kinase concentration, Pericardial effusi...	OMIM:618775
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyp...	ORPHA:75840
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Ataxia, Microcephaly, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased p...	OMIM:603585
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia	OMIM:231000
Maturity-Onset Diabetes Of The Young, Type 13	Reduced C-peptide level, Elevated hemoglobin A1c	OMIM:616329
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Kyphoscoliosis, Tremor, Sh...	ORPHA:3077
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Fasciculations	ORPHA:65684
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Microcephaly, Limb ataxia, Persistence of hemoglobin F, Truncal ataxia, Cerebel...	OMIM:617101
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c	OMIM:619278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Elevated circulating creatine kinase concentration, Hypoplasia of the pons,...	OMIM:615181
Dworschak-Punetha Neurodevelopmental Syndrome	Elevated circulating creatine kinase concentration, Microcephaly, Dysplastic corpus callosum, Uni...	OMIM:619955
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Joubert Syndrome 27	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Gait ataxia	OMIM:617120
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Leukopenia, Lethargy, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Fanconi Anemia, Complementation Group W	Polysplenia, Duodenal atresia	OMIM:617784
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hyperte...	OMIM:216360
Sialidosis Type 1	Ataxia, Tremor, Splenomegaly, Kyphosis, Sensorineural hearing impairment, Slurred speech, Abnorma...	ORPHA:812
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Cerebellar atrophy, Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Micro...	ORPHA:487796
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Hepatomegaly	OMIM:601979
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Hyperpepsinogenemia I, Duodenal ulcer	OMIM:126840
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Eleva...	ORPHA:79284
Bickerstaff Brainstem Encephalitis	Ataxia, Dysesthesia, Babinski sign, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensi...	ORPHA:79138
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int...	OMIM:617093
Isolated Agammaglobulinemia	Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Abnormal lymphocyte morphology, Anemia	ORPHA:229717
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity, Abnormal th...	ORPHA:444013
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Joubert Syndrome With Ocular Defect	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, T...	ORPHA:220493
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Thrombocytopenia, Leukocytosis, Abnormal cerebral white matter morphology, Cerebral...	ORPHA:83601
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Acute colitis, Intestinal perforation, Pancreatitis, Leuko...	ORPHA:90038
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Microcephaly, Pineal cyst, Iron de...	OMIM:618885
Alg6-Cdg	Ataxia, Jaundice, Decreased LDL cholesterol concentration, Macroglossia, Abnormality of the liver...	ORPHA:79320
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep...	OMIM:619377
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Low-set ears	ORPHA:477673
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos...	OMIM:274150
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:256040
Duodenal Ulcer, Hyperpepsinogenemic I	Hyperpepsinogenemia I, Duodenal ulcer	OMIM:126850
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Joubert Syndrome 7	Ataxia, Brainstem dysplasia, Oculomotor apraxia, Hypoplasia of the brainstem, Scoliosis, Molar to...	OMIM:611560
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, M...	OMIM:275350
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Impaired distal vibration sen...	OMIM:616586
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Sensorineural hearing impai...	OMIM:300957
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hiatus hernia, Corpus callos...	OMIM:601162
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Atrial septal def...	ORPHA:124
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Abnormal pinna morphology, Tremor, Kyphosis, Gait ataxia, Macroglossia, Cerebellar vermis atrophy	OMIM:300354
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Short neck, Low-set ears, Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, ...	ORPHA:2570
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Waddling gait, Posteriorly rotated ears, Elevated circulating crea...	OMIM:300280
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Microcephaly, Iron deficiency anemia, High palate, Gastroesophageal reflux, Focal T...	OMIM:607906
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:98863
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Peritonitis, Abnormal heart morphology, Neutropenia, Lethargy, Thromb...	ORPHA:391673
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Gait disturbance	ORPHA:1875
Mirage Syndrome	Hyponatremia, Hypospadias, Thrombocytopenia, Esophageal stricture, Hyperkalemia, Leukopenia, Gast...	OMIM:617053
Diffuse Alveolar Hemorrhage	Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Hemat...	ORPHA:90060
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Tremor, Anteverted ears, Poor coordination, Gait disturbance, High palate, Abnormality of...	ORPHA:544254
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ank...	OMIM:609541
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration	OMIM:301054
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology,...	ORPHA:68
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect, Vesicoureteral reflux, Pate...	ORPHA:438213
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cerebral calcification, Microce...	OMIM:251290
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia, Microcephaly	OMIM:618116
Joubert Syndrome 28	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia	OMIM:617121
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Cerebral white matter atrophy, Hypoglycinemia, Abnormal cortical gyration, Megaloblastic anemia, ...	ORPHA:79351
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:601859
Joubert Syndrome 3	Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Low-set ears, Molar tooth sign on MRI, ...	OMIM:608629
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Cerebral atrophy	OMIM:618453
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Dilated cardiomyopathy, Colpocephaly, Increased mean corpuscular volum...	ORPHA:261250
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating...	ORPHA:99901
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Polymicrogyria, Agenesis o...	ORPHA:250972
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Dysphagia, Scoliosis, Spinal rigidity	OMIM:618323
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Cerebellar atrophy, Elevated circulating creatine kinase concentr...	OMIM:615084
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib...	ORPHA:541423
Flynn-Aird Syndrome	Ataxia, Impaired pain sensation, Kyphosis, Scoliosis, Progressive sensorineural hearing impairmen...	ORPHA:2047
Chylomicron Retention Disease	Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol concentratio...	OMIM:246700
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Stt3B-Cdg	Cerebellar atrophy, Micropenis, Thrombocytopenia, Microcephaly	ORPHA:370924
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Congenital Disorder Of Glycosylation, Type Ix	Cerebellar atrophy, Micropenis, Thrombocytopenia, Microcephaly	OMIM:615597
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Feingold Syndrome	Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia	ORPHA:1305
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Urinary incontinence, Basal ganglia calcification, Cerebral atrophy, Leukoenceph...	OMIM:221770
Thyrocerebroretinal Syndrome	Thrombocytopenia, Nephritis, Ataxia	OMIM:274240
Fanconi Anemia, Complementation Group B	Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Thrombocytopenia, Duodenal atresia	OMIM:300514
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Sensorineural hearing impairment, Babinski sign, Cere...	ORPHA:314404
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:618048
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G...	ORPHA:206594
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Dysplastic...	ORPHA:357058
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Acanthocytosis,...	ORPHA:96180
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, High palate, Gait distu...	ORPHA:765
Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:98853
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Cystathioninuria	Cystathioninemia, External ear malformation, Tremor	ORPHA:212
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Kearns-Sayre Syndrome	Sideroblastic anemia, Ataxia, Microcephaly, Basal ganglia calcification, Renal tubular acidosis, ...	OMIM:530000
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune ...	OMIM:603909
Pancreatic Lipase Deficiency	Fat malabsorption, Hypocholesterolemia, Steatorrhea	OMIM:614338
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Tufted Angioma	Anemia, Paresthesia, Thrombocytopenia	ORPHA:1063
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Hydranencephaly	Thalamic edema, Spastic diplegia, Opisthotonus, Cerebral cortical atrophy, Infantile sensorineura...	ORPHA:2177
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Hepatic fibrosis, Protein-losing enteropathy, Hypoalbuminemia, Ste...	OMIM:602579
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Cleft palate, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr...	ORPHA:98850
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Acute Transverse Myelitis	Back pain, Impaired vibratory sensation, Somatic sensory dysfunction, Decreased circulating coppe...	ORPHA:139417
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Cerebellar hypoplasi...	ORPHA:280210
Sandifer Syndrome	Torticollis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Abnormal posturing...	ORPHA:71272
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, ...	ORPHA:37042
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids, Gastroesophageal reflux, ...	OMIM:619769
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Hypospadias, Gastritis, Megaloblastic anemia, Abnormal erythrocyte morphology, Folate-unresponsiv...	ORPHA:2575
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Amed Syndrome, Digenic	Acute myeloid leukemia, Microcephaly, Anemia, Leukopenia, Thrombocytopenia	OMIM:619151
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, He...	ORPHA:103910
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Abnormal vertebral morphology, Cerebral atrophy	ORPHA:166024
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect	OMIM:612527
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar vermis hypoplasia, Short neck, Oral-pharyngeal dysphagia, High, narrow palate, Tremor,...	OMIM:300966
Rett Syndrome	Dystonia, Kyphosis, Gait apraxia, Gait ataxia, Gastroesophageal reflux, Scoliosis, Truncal ataxia...	OMIM:312750
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ...	OMIM:603554
Diamond-Blackfan Anemia 5	Macrocytic anemia, Hypospadias, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopeni...	OMIM:612528
Abcd Syndrome	Aganglionic megacolon, Polycythemia, Total intestinal aganglionosis	OMIM:600501
Anemia, Congenital Dyserythropoietic, Type Iiia	Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi...	OMIM:105600
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Proteinuria, Minimal change glomerulonephritis, Thrombocytopenia, Hyperlipidemia, St...	ORPHA:1830
Isovaleric Acidemia	Pancytopenia, Hyperglycinuria, Leukopenia, Lethargy, Thrombocytopenia	OMIM:243500
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Hepa...	OMIM:606003
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Gaisböck Syndrome	Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytopen...	OMIM:260400
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Ventricular septal defect, Elevated circulating C-reactive pro...	ORPHA:97214
Riboflavin Transporter Deficiency	Ataxia, Tremor, Progressive hearing impairment, Myoclonus, Dysphagia, Cerebral cortical atrophy	ORPHA:97229
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Gastroesophageal reflux, Scoliosis	OMIM:300434
Even-Plus Syndrome	Atrial septal defect, Dysplastic corpus callosum, Patent foramen ovale, Renal hypoplasia, High pa...	OMIM:616854
Fanconi Anemia, Complementation Group F	Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Duodenal atresia	OMIM:603467
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Lethargy, Ketonuria, A...	ORPHA:79282
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Hypoplasia of the corpus callosum, Pro...	ORPHA:423479
4Q21 Microdeletion Syndrome	Short neck, Tremor, Kyphosis, Cerebellar hypoplasia, Scoliosis, Low-set ears, Hearing impairment	ORPHA:238750
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Macroglossia, Cerebel...	OMIM:616900
Overlap Myositis	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal heart...	ORPHA:206572
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal...	ORPHA:103907
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Dysphagia	OMIM:619751
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Horseshoe kidney, Cl...	OMIM:612562
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Parkinsonism, Tremor, Fasciculations, Difficulty walking, Frequent falls, Mildly eleva...	ORPHA:329478
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, High, narrow palate, Gait disturbance, Scoliosis, Hemiplegia	ORPHA:2181
Shigellosis	Hyponatremia, Acute colitis, Hemolytic-uremic syndrome, Intestinal perforation, Leukocytosis, Ure...	ORPHA:810
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97282
Joubert Syndrome 20	Molar tooth sign on MRI, Inability to walk, Oculomotor apraxia	OMIM:614970
Joubert Syndrome 10	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Low-set ears	OMIM:300804
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Atria...	OMIM:619573
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Hematemesis, Giant platelets, Macrothrombocytopenia, Decreased plate...	ORPHA:274
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:98855
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Basal ganglia calcification, Hepatic steatosis, Hemolytic anemia, Intracerebr...	OMIM:615846
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,...	OMIM:620001
Joubert Syndrome 37	Hepatomegaly, Cerebellar vermis hypoplasia, Lumbar hyperlordosis, Posteriorly rotated ears, Oculo...	OMIM:619185
Duplication Of The Pituitary Gland	Lower limb spasticity, Thoracic scoliosis, Abnormal odontoid process morphology, Abnormal midbrai...	ORPHA:314621
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer, Ataxia	ORPHA:3350
Hypercholanemia, Familial 1	Fat malabsorption, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia	OMIM:152700
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Bicuspid aortic valve, Anemia of inadequate production, Unilateral renal ...	OMIM:614900
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Increased serum pyruvate, Hepatomegaly, Neuronal loss in basal ganglia, Myofi...	OMIM:604377
Acquired Purpura Fulminans	Thrombocytopenia, Hepatic failure, Elevated circulating C-reactive protein concentration	ORPHA:49566
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Unsteady gait, Ce...	OMIM:615512
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Microcephaly, Cerebral atrophy, Choreoathetosis, Leukopenia, 3-Methyl...	OMIM:616271
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Tremor, Inability to walk, Low-set ears, Brain atrophy, Spasticity	OMIM:618718
Joubert Syndrome 15	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia	OMIM:614464
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Protein-losing ...	ORPHA:79319
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Cerebellar atrophy, Elevated circulating creatine kinase concentr...	ORPHA:352447
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Gait ataxia, Gait disturbance, Gait imbalance, Gliosis, Dysph...	OMIM:618369
Gm1 Gangliosidosis	Tremor, Abnormal form of the vertebral bodies, Gastroesophageal reflux, Ganglioside accumulation,...	ORPHA:354
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Moyamoya Disease 6 With Or Without Achalasia	Achalasia, Ischemic stroke, Thrombocytopenia, Dysphagia	OMIM:615750
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, High, narrow palate, Tip-toe gait, Scoliosis, Mildly ele...	ORPHA:536516
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Dysphagia	OMIM:313200
Sheehan Syndrome	Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency...	ORPHA:91355
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Dysplastic corpus callosum, Hypoesthesia, Secondary microcephaly, P...	OMIM:619737
Sengers Syndrome	Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia	OMIM:212350
Glucagonoma	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype...	ORPHA:97280
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Caudate atr...	OMIM:615574
Autosomal Recessive Spastic Paraplegia Type 75	Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr...	ORPHA:459056
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal brainstem MRI signal intensity, Tremor, Babinski sign, Spastic paraplegia, Cerebral atro...	ORPHA:83629
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Proteinuria, Dysplastic corpus callosu...	ORPHA:488627
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Joubert Syndrome	Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Abnormal form of the vertebr...	ORPHA:475
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine leve...	OMIM:253270
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Conjugated hyp...	ORPHA:567983
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Tremor, Brain atrophy, Scoliosis, Hearing impairment	OMIM:278760
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hyperte...	ORPHA:1454
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:90051
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, High, narrow palate, Rectal prolapse, Adenomatous...	ORPHA:79076
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase...	ORPHA:79095
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atro...	OMIM:615095
Castleman Disease	Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal obstruction, Elevated ...	ORPHA:160
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Joubert Syndrome 22	Molar tooth sign on MRI, Oculomotor apraxia, Agenesis of cerebellar vermis, Temporal cortical atr...	OMIM:615665
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Ventricular septal defect, Microcephaly, Thrombocytopenia, Cleft...	ORPHA:163979
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Cerebral calcification, Aplastic anemia, Ataxia, Microcephaly, ...	OMIM:613990
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia	ORPHA:1203
Oculopharyngodistal Myopathy 4	Postural tremor, Elevated circulating creatine kinase concentration, Tremor, High palate, Dysphagia	OMIM:619790
Cockayne Syndrome Type 2	Hepatomegaly, Lower limb spasticity, Ataxia, Hearing impairment, Kyphosis, Gait disturbance, Scol...	ORPHA:90322
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,...	OMIM:615960
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoalbuminemia, ...	ORPHA:14
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Choreoathetosis, Hyperu...	OMIM:300322
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur...	OMIM:170100
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Elevated circu...	OMIM:619381
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Microcephaly, Esophageal stricture, Dilated ca...	OMIM:613989
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Joubert Syndrome 36	Molar tooth sign on MRI, Sensorineural hearing impairment	OMIM:618763
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia	OMIM:615550
Monosomy 22	Aplasia of the thymus, Microcephaly, Hypochromic microcytic anemia, Hepatosplenomegaly, High pala...	ORPHA:96123
Fetal Akinesia Deformation Sequence 4	Posteriorly rotated ears, Short neck, Kyphosis, High palate, Low-set ears	OMIM:618393
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Cerebral calcification, Microcephaly, Intrahepatic cholestasis...	ORPHA:46059
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Crypt hyperplasia	OMIM:613217
Joubert Syndrome 18	Agenesis of cerebellar vermis, Kyphoscoliosis, Cleft palate, Lobulated tongue, Intrahepatic bilia...	OMIM:614815
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Hypospadias, Intestinal malrotation, Patent foramen ...	ORPHA:79324
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Proteinuria, Urinary incontinence, Elevated circulat...	ORPHA:94093
Avian Influenza	Elevated hepatic transaminase, Lymphopenia, Elevated circulating creatine kinase concentration, E...	ORPHA:454836
Congenital Short Bowel Syndrome	Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con...	OMIM:615237
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Lobulated tongue, Cerebellar vermis hypoplasia, Low-set ears	OMIM:617127
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Kyphosis, Cerebral atrophy, Scoliosis, Macrotia	OMIM:619797
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Anemia, Aminoaciduria, High palate, Neutropenia, Polymicrogyria, Thrombocytopenia	OMIM:614520
Microcephalic Primordial Dwarfism, Montreal Type	Low-set, posteriorly rotated ears, Kyphosis, Congenital pyloric atresia, Vertebral segmentation d...	ORPHA:2617
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia, Lethargy	ORPHA:99745
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Dysplastic corpus callosum, Hypertrophic cardiomyopathy, Cerebellar hypoplasia, Hyp...	OMIM:618810
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Cerebral calcification, Proteinuria, Heparan sulfate excretion in urine, Inability to walk, Throm...	ORPHA:505248
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Thrombocytopenia	OMIM:188025
Joubert Syndrome With Oculorenal Defect	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, S...	ORPHA:2318
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Peptic ulcer...	ORPHA:98849
Wieacker-Wolff Syndrome, Female-Restricted	Posteriorly rotated ears, Short neck, Kyphosis, Inability to walk, Cleft palate, Scoliosis, Dysph...	OMIM:301041
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Hearing impairment, Tremor, Cerebellar hypoplas...	OMIM:620327
Tularemia	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:3392
Autism Spectrum Disorder Due To Auts2 Deficiency	Cerebral palsy, Kyphosis, Hypertonia, Scoliosis, Low-set ears, Spasticity	ORPHA:352490
Typical Nemaline Myopathy	Waddling gait, Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity...	ORPHA:171436
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Thrombo...	OMIM:214500
Charcot-Marie-Tooth Disease Type 4B2	Tongue atrophy, Kyphoscoliosis, Tremor, Inability to walk, Sensorineural hearing impairment, Voca...	ORPHA:99956
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Scoliosis, Macrotia, Scheuermann-like vertebral changes, Cervical spinal canal stenosis	OMIM:301900
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Aganglionic megacolon, Abnormal hemoglobin, Microcephaly, Macroglossia, Cere...	ORPHA:847
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Non-Functioning Pituitary Adenoma	Hypopituitarism, Decreased response to growth hormone stimulation test, Reduced circulating prola...	ORPHA:91349
Fanconi Anemia, Complementation Group D2	Pancytopenia, Ectopic kidney, Microcephaly, Thrombocytopenia, Esophageal atresia, Annular pancrea...	OMIM:227646
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi...	ORPHA:77259
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Steatorrhea	OMIM:613291
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Thrombocy...	OMIM:611126
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis	OMIM:252605
Intellectual Developmental Disorder, Autosomal Dominant 26	Cerebral palsy, Kyphosis, Hypertonia, Low-set ears, Scoliosis	OMIM:615834
Duodenal Atresia	Duodenal atresia	OMIM:223400
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Cerebellar vermis hypoplasia, Uplifted earlobe, Kyphosis, Babinski sign, Narr...	ORPHA:364028
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Atrophic gastritis	OMIM:616576
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Elevated circulating creatine kinase concentration, Microcephaly, Focal segme...	OMIM:616239
Joubert Syndrome 1	Hemifacial spasm, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem dysplasi...	OMIM:213300
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Hypercalcemia, Decreased urinary potassium,...	ORPHA:95409
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Anemia, Lymphope...	OMIM:617591
Sjögren-Larsson Syndrome	Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity	ORPHA:816
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Joubert Syndrome 30	Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on MRI, Dandy-Walker malforma...	OMIM:617622
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Cerebral calcification, Elevated circulating creatine kinase concentr...	ORPHA:2785
Braddock-Carey Syndrome 2	Cleft palate, Thrombocytopenia, Microcephaly	OMIM:619981
Joubert Syndrome 9	Molar tooth sign on MRI, Oculomotor apraxia, Hepatic fibrosis, Scoliosis	OMIM:612285
Myopathy, Centronuclear, 2	Waddling gait, Hyperlordosis, Kyphosis, High palate, Scoliosis	OMIM:255200
Joubert Syndrome 14	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Posteriorly rotated ears, Cl...	OMIM:614424
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Winchester Syndrome	Kyphosis	OMIM:277950
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Abnormal circulating creatine kinase concentration, Scoliosis	OMIM:618484
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Broad-based gait, Hyperlordosis, Kyphosis, Distal sensory impairment, Scoliosis	OMIM:181405
Metachromatic Leukodystrophy	Incoordination, Ataxia, Dystonia, Abnormal stomach morphology, Tremor, Neoplasm of the gallbladde...	ORPHA:512
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Kyphosis, Sensorineural hearing impairment, Hyperlordosis	ORPHA:3085
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:222700
Hereditary Folate Malabsorption	Pancytopenia, Cerebral calcification, Eosinophilia, Megaloblastic anemia, Gastroesophageal reflux...	ORPHA:90045
Schimke Immunoosseous Dysplasia	Waddling gait, Renal insufficiency, Pancytopenia, Proteinuria, Thrombocytopenia, Stage 5 chronic ...	OMIM:242900
Joubert Syndrome 16	Molar tooth sign on MRI, Oculomotor apraxia, Dandy-Walker malformation	OMIM:614465
Fumarase Deficiency	Necrotizing enterocolitis, Increased urine succinate level, Polycythemia, Microcephaly, Intrahepa...	OMIM:606812
Waldenström Macroglobulinemia	Normocytic anemia, Gastrointestinal hemorrhage, Renal insufficiency, Hepatomegaly, Ataxia, Abnorm...	ORPHA:33226
Smith-Kingsmore Syndrome	Reduced cerebral white matter volume, Megalencephaly, Perisylvian polymicrogyria, Hemimegalenceph...	OMIM:616638
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Microcephaly, Steatorrhea, High palate, Neutropenia, Hyperechoge...	OMIM:617941
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga...	OMIM:250250
Blue Rubber Bleb Nevus	Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Volvulus,...	OMIM:112200
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Hepatomegaly, Ataxia, Microcephaly, Splenomegaly, Micronodular cirrhosis, Neu...	OMIM:301072
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Abnormal cerebellum morphology, Duodenal ulcer, Tremor	OMIM:190310
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr...	ORPHA:49041
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Proteinuria, Ataxia, Abnormal heart valve...	ORPHA:77261
Orofaciodigital Syndrome Xvi	Ataxia, Hamartoma of tongue, Inability to walk, Oculomotor apraxia, Low-set ears, Molar tooth sig...	OMIM:617563
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Hearing impairment, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, Pa...	OMIM:105210
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia	ORPHA:85212
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Elevated circulating creatine kinase concentration, Glomerulonephritis, Myoc...	ORPHA:36234
Meckel Syndrome, Type 10	Dilated fourth ventricle, Sacral dimple, Abnormal pinna morphology, Malformation of the hepatic d...	OMIM:614175
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Ataxia, Hamartoma of tongue, Tre...	ORPHA:2754
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalcemia, Splenomegaly, Macroglossia, Protein-losing enteropathy, Hypocalcemia	OMIM:618440
Lead Poisoning	Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Chronic kidney disease, Imb...	ORPHA:330015
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Cerebral calcification, Elevated circulating creatine kinase concen...	ORPHA:228308
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim...	OMIM:614162
Wieacker-Wolff Syndrome	Dystonia, Hyperlordosis, Short neck, Kyphosis, Cerebral atrophy, High palate, Scoliosis, Apraxia,...	OMIM:314580
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev...	OMIM:616433
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Impaired vibratory sensation, Tongue atrophy, Somatic sensory dysfunction, Tr...	ORPHA:466768
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agen...	OMIM:614833
Joubert Syndrome 2	Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Oculomotor apraxia, Hypoplasia of the...	OMIM:608091
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Neurona...	ORPHA:275872
Stromme Syndrome	Accessory spleen, Jejunal atresia, Intestinal malrotation, Cleft palate, Duodenal atresia	OMIM:243605
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Elevated circulating C-reactive protein concentration, Perianal abscess, Iron ...	OMIM:301074
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Hypospadias, Ventricular septal defect, Microcephaly, Focal polymicrogyria, D...	OMIM:619103
Felty Syndrome	Hepatomegaly, Pericarditis, Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Th...	ORPHA:47612
Joubert Syndrome 8	Hepatomegaly, Ataxia, Oculomotor apraxia, Hypertonia, Prolonged neonatal jaundice, Molar tooth si...	OMIM:612291
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia, Abnormal hea...	ORPHA:77293
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Low-set ears, Global ...	OMIM:608776
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Ataxia, Tremor, Cere...	ORPHA:3008
Intellectual Disability-Developmental Delay-Contractures Syndrome	Oculomotor apraxia, Kyphosis, Scoliosis	ORPHA:3454
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Increased RBC distribution width, Macrothrombocytopenia, Absence of ...	OMIM:187900
Arima Syndrome	Cerebellar vermis hypoplasia, Brainstem dysplasia, Hypoplasia of the brainstem, Hepatic fibrosis,...	OMIM:243910
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy...	OMIM:230800
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hepatomegaly	OMIM:618234
Ck Syndrome	Posteriorly rotated ears, Hyperlordosis, Kyphosis, High palate, Scoliosis	OMIM:300831
Congenital Contractural Arachnodactyly	Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia	ORPHA:115
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Prolonged neonatal jaundice	OMIM:618512
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency anemia, Intest...	ORPHA:261584
Pediatric Systemic Lupus Erythematosus	Dark urine, Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Pericard...	ORPHA:93552
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia, Hyperbilirubinemia	ORPHA:713
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp...	OMIM:235255
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Neop...	ORPHA:99867
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Microcephaly, Perianal abscess, Ery...	OMIM:612541
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital...	ORPHA:974
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Ectopic kidney, Reticulocytopenia, Cleft palate, St...	OMIM:613309
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Akinesia, Microcephaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenom...	OMIM:608013
Cerebrofacioarticular Syndrome	Anal stenosis, Cerebellar vermis hypoplasia, Hypospadias, Ataxia, Microcephaly, Dysplastic corpus...	ORPHA:314679
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Cleft palate, Macrocytic anemia, Granulocytopenia, Bifid uvula	OMIM:606164
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis, Brain atrophy, Global brai...	OMIM:617186
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife...	ORPHA:3226
Addison Disease	Hyponatremia, Normocytic anemia, Hypercalcemia, Decreased urinary potassium, Renal salt wasting, ...	ORPHA:85138
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasi...	ORPHA:99147
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Myocarditis, Chorea, Coombs-positive hemolytic anemia, Gastroint...	ORPHA:464343
Alexander Disease	Ataxia, Clonus, Hyperlordosis, Short neck, Kyphosis, Aqueductal stenosis, Tremor, Chorea, Abnorma...	ORPHA:58
Holoprosencephaly 7	Bilateral cleft palate, Microcephaly, Partial agenesis of the corpus callosum, Panhypopituitarism...	OMIM:610828
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ...	ORPHA:30391
21Q22.11Q22.12 Microdeletion Syndrome	Microcephaly, Anemia, Atrial septal defect, Agenesis of corpus callosum, Thrombocytopenia	ORPHA:261323
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Glomerulonephritis, Anal fissure, Chronic kidney disease...	ORPHA:79408
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Abnormality of the liver, Progressive gait ataxia, Limb ...	ORPHA:646
Zimmermann-Laband Syndrome 3	Kyphosis, High palate, Bifid uvula	OMIM:618658
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Tangier Disease	Hypertriglyceridemia, Impaired temperature sensation, Hepatosplenomegaly, Anemia, Hypocholesterol...	ORPHA:31150
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia, Dysphagia, Lethar...	ORPHA:319218
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic diplegia, Hyperam...	ORPHA:2203
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis	OMIM:612164
Megalocornea-Intellectual Disability Syndrome	Ataxia, Kyphosis, Sensorineural hearing impairment, Protruding ear, High palate, Scoliosis, Hyper...	ORPHA:2479
19P13.12 Microdeletion Syndrome	Short neck, Aplasia/Hypoplasia of the cerebellar vermis, Kyphosis, Hyperlipidemia, External ear m...	ORPHA:254346
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Spinal rigidity, Kyphosis, Protruding ear, High palate, Scoliosis, Mildly elevated c...	OMIM:254090
Mucopolysaccharidosis, Type Iva	Waddling gait, Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the...	OMIM:253000
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Urinary incontinence, Elevated circulating ...	OMIM:617193
Tick-Borne Encephalitis	Elevated hepatic transaminase, Somatic sensory dysfunction, Abnormal medulla oblongata morphology...	ORPHA:297
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Anuria, Acute colitis, Intestinal perforation, Pancreatitis, Leuk...	ORPHA:544482
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Odynophagia, Leukopenia, Hypoalbuminemia, Let...	ORPHA:99826
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Kyphosis, Sensorineural hearin...	OMIM:615381
Alpha-Mannosidosis	Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Narrow palate, Macroglossia, Scoliosis, Abnorma...	ORPHA:61
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo...	ORPHA:93314
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Hematuria, Leukopenia, Neutropenia, Anemia	ORPHA:520
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Gliosis, Dysphagia	OMIM:300857
Fanconi Anemia, Complementation Group E	Pancytopenia, Ectopic kidney, Microcephaly, Thrombocytopenia, Reticulocytopenia, Horseshoe kidney...	OMIM:600901
Myofibrillar Myopathy 10	Kyphosis, Elevated circulating creatine kinase concentration	OMIM:619040
Marden-Walker Syndrome	Short neck, Kyphosis, High, narrow palate, Pyloric stenosis, Cleft palate, Hypoplasia of the brai...	OMIM:248700
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Xerostomia, Spastic paraplegia, ...	OMIM:618527
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Short neck, Kyphosis, Biliary tract abnormality, Scoliosis, Ab...	ORPHA:3191
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Lymphopenia, Renal insufficiency, Elevated circulating C-reactive ...	ORPHA:319213
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Feingold Syndrome 1	Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache...	OMIM:164280
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Tremor, Kyphosis, Gait ataxia, High palate, Scoliosis	ORPHA:476126
Joubert Syndrome 38	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Decreased re...	OMIM:619476
Joubert Syndrome 17	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia	OMIM:614615
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Chronic neutropenia, Villous atrop...	OMIM:614700
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Cerebral calcification, Cirrhosis, Oral leukoplakia, Thrombocytopenia	OMIM:613987
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Congenital Myopathy 22A, Classic	Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, High palate, Scoliosis, Frequent fa...	OMIM:620351
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Fanconi Anemia, Complementation Group A	Pancytopenia, Ectopic kidney, Microcephaly, Thrombocytopenia, Reticulocytopenia, Horseshoe kidney...	OMIM:227650
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula...	OMIM:614294
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Vascular Hyalinosis	Hematochezia, Protein-losing enteropathy, Malabsorption	OMIM:277175
Atelis Syndrome 2	Microcephaly, Thrombocytopenia, Dysmetria, Supravalvar pulmonary stenosis, High palate, Gastroeso...	OMIM:620185
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, ...	OMIM:253010
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Ataxia, Tremor, Gait ataxia, Protruding ear, Gastroesophageal reflux, Lumbar scoliosis, Cerebella...	OMIM:300998
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Cerebral calcification, Ataxia, Leukoencephalopathy, Anemia, Intestinal bleeding, Gastrointestina...	OMIM:612199
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Kyphosis, Abnormal fo...	ORPHA:2635
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Hematemesis, Thrombocytop...	ORPHA:340
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam...	ORPHA:537
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, High palate, Scoliosis	ORPHA:2598
Gaucher Disease	Hepatomegaly, Pancytopenia, Mitral valve calcification, Ataxia, Proteinuria, Elevated circulating...	ORPHA:355
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangiti...	OMIM:308230
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Bilateral sensorineural hearing impairment, Dysphagia, Mildly eleva...	ORPHA:397744
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatospleno...	ORPHA:1655
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphat...	ORPHA:466650
Vici Syndrome	Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Sensorineural h...	OMIM:242840
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Periodic paralysis	OMIM:613239
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Very long chain fatty acid accum...	OMIM:261515
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Ataxia, Protruding tongue, Tremor, Myoclonus, Scoliosis, Dysphagia, Gait imbalance	ORPHA:98794
Zika Virus Disease	Congenital intracerebral calcification, Thrombocytopenia, Microcephaly	ORPHA:448237
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Cerebellar vermis hypoplasia, Abnormal pinna morphology, Kyphosis, Cerebellar hypo...	OMIM:618291
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Increased fecal coproporphyrin...	OMIM:263700
Emanuel Syndrome	Sacral dimple, Torticollis, Intestinal malrotation, Kyphosis, Macrotia, Cleft palate, Cerebral at...	OMIM:609029
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, B...	ORPHA:227990
Boutonneuse Fever	Elevated hepatic transaminase, Leukopenia, Renal insufficiency, Thrombocytopenia	ORPHA:83313
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Elevated circulating creatine kinase concentration, Spinal rigidity, Partial absence of cerebella...	OMIM:613150
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Kyphosis, Sensorineura...	ORPHA:521426
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki...	ORPHA:26791
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric...	ORPHA:781
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto...	OMIM:183900
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Ataxia, E...	ORPHA:50918
Unilateral Polymicrogyria	Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb...	ORPHA:268943
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Akinesia, Acanthocytosis, Microcephaly, Poikilocytosis, Medullary nephrocalcin...	OMIM:618947
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Ataxia, Chorea, Dilated cardiomyopathy, Cerebral atrophy, Gait ataxia, Abnormal cer...	OMIM:618321
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Thrombocytopenia	ORPHA:3002
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Protruding tongue, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia...	OMIM:619179
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Peritonitis, Enterocolitis, Decreased eosinophil count, Lym...	ORPHA:2686
Joubert Syndrome 40	Molar tooth sign on MRI, Oculomotor apraxia	OMIM:619582
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hyperlordosis, Kyphosis, Low-set ears, Scoliosis	OMIM:615761
Rett Syndrome, Congenital Variant	Dystonia, Kyphosis, Chorea, Protruding ear, Athetosis, Gastroesophageal reflux, Scoliosis, Apraxi...	OMIM:613454
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal...	ORPHA:94068
Arthrogryposis, Distal, Type 5	Kyphosis, Protruding ear, Hypertonia, High palate, Scoliosis	OMIM:108145
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, High palate, Low-set ears, Scoliosis	ORPHA:178148
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	ORPHA:169090
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, B...	ORPHA:227982
Intellectual Developmental Disorder, Autosomal Dominant 53	Gastrointestinal dysmotility, Unsteady gait, Intestinal malrotation, Duodenal atresia	OMIM:617798
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Coffin-Lowry Syndrome	Kyphosis, Sensorineural hearing impairment, Abnormal form of the vertebral bodies, Narrow palate,...	ORPHA:192
Pontocerebellar Hypoplasia, Type 2A	Microcephaly, Hypoplasia of the pons, Chorea, Abnormal cerebral white matter morphology, Gliosis,...	OMIM:277470
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Lower limb spasticity, Absent brainstem auditory res...	ORPHA:90321
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Hearing impairm...	ORPHA:98889
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam...	ORPHA:36426
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Celiac disease, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral...	ORPHA:544488
Schaaf-Yang Syndrome	Inability to walk, Kyphosis, Gastroesophageal reflux, Low-set ears, Scoliosis	OMIM:615547
Crisponi Syndrome	Kyphosis, Hypertonia, High palate, Scoliosis	ORPHA:1545
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Multiple g...	OMIM:175200
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neu...	OMIM:301078
Micro Syndrome	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Kyphosis, Abnormal cerebellum mo...	ORPHA:2510
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Cerebral atrophy, Anemia, Gastroesophageal reflux, Dysphagia, Thrombo...	OMIM:230900
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Hypospadias, Unilateral renal agenesis, Dysplastic corpus callosum, Velopharyngeal insufficiency,...	ORPHA:363444
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Tetanus	Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, Hypertonia, D...	ORPHA:3299
Kleefstra Syndrome 2	Kyphosis, Bifid uvula, Scoliosis	OMIM:617768
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Small cervical vertebral bodies, Low-set, posteriorly rotated ears...	ORPHA:397715
Glutaryl-Coa Dehydrogenase Deficiency	Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Dysph...	ORPHA:25
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:610733
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Ectopic kidney, Microcephaly, Thrombocytopenia, Reticulo...	OMIM:227645
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis, Abnormal pinna morphology, Intestinal malrotation, Low-set ears	ORPHA:77300
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Hepatomegaly, Corpus callosum atrophy, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:248500
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Hypospadias, Ataxia, Phimosis, Microcephaly, Thrombocytopen...	OMIM:305000
Ataxia-Telangiectasia	Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inability to walk, Slurred ...	OMIM:208900
Brucellosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Pericarditis, Liver abscess, Glomerulone...	ORPHA:1304
Kaposiform Lymphangiomatosis	Pancreatic cysts, Thrombocytopenia, Splenomegaly, Pericardial effusion, Hepatosplenomegaly, Abnor...	ORPHA:464329
Williams Syndrome	Elevated circulating creatine kinase concentration, Tremor, Rectal prolapse, Abnormal form of the...	ORPHA:904
Hypomelanosis Of Ito	Kyphosis, Scoliosis, Cerebral atrophy	OMIM:300337
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Posteriorly rotated ears, Hyperlordosis, Kyphosis, Gait ataxia, High palate, ...	OMIM:617011
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Microcephaly, Splenomegaly...	OMIM:608233
Gitelman Syndrome	Neoplasm of the pancreas, Cerebral calcification, Proteinuria, Urinary incontinence, Decreased ur...	ORPHA:358
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, Cerebral hypoplasi...	ORPHA:508542
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Tremo...	ORPHA:263455
Primary Sjögren Syndrome	Normocytic anemia, Renal insufficiency, Somatic sensory dysfunction, Parotitis, Glomerulonephriti...	ORPHA:289390
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Cerebral ...	OMIM:618213
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Microcephaly, Splenomegaly, Jaundice, Neutropenia in...	ORPHA:525731
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Increased circulating guanosine concentration, Ataxia, Tremor, Splenomegaly, Spasti...	OMIM:613179
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Dysplastic corpus callosu...	ORPHA:2328
Degcags Syndrome	Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High p...	OMIM:619488
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus, Gastroesophageal reflu...	ORPHA:2059
Cowden Syndrome 1	Colonic diverticula, Dysplastic gangliocytoma of the cerebellum, Hearing impairment, Kyphosis, Fu...	OMIM:158350
Mcdonough Syndrome	Low-set, posteriorly rotated ears, Kyphosis, Protruding ear, Scoliosis, Macrotia	ORPHA:2471
Diamond-Blackfan Anemia 21	Microcephaly, Secundum atrial septal defect, Erythroid hypoplasia, Anemia, Thrombocytopenia	OMIM:620072
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia	OMIM:619227
Recon Progeroid Syndrome	Thrombocytopenia, Anemia, Microcephaly	OMIM:620370
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Colitis, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Hepatosplenomegaly, Chr...	ORPHA:3260
Lateral Meningocele Syndrome	Posteriorly rotated ears, Hyperlordosis, Short neck, Kyphosis, High, narrow palate, Abnormality o...	ORPHA:2789
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Cerebral calcification, Esophageal stenosis, Abnormality ...	ORPHA:1775
Whim Syndrome	Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Limb ataxia, ...	ORPHA:51636
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Dextrocardia, Interhypothalamic adhesion, High palate, Micropenis, Atrioventricular canal defect,...	OMIM:618929
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio...	OMIM:619004
3C Syndrome	Intestinal malrotation, Short neck, Kyphosis, High, narrow palate, Hemivertebrae, Cleft palate, E...	ORPHA:7
Zimmermann-Laband Syndrome 2	Macroglossia, Kyphosis, Sensorineural hearing impairment, Short neck	OMIM:616455
Esophageal Atresia	Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec...	ORPHA:1199
Cog8-Cdg	Elevated hepatic transaminase, Protein-losing enteropathy, Ataxia	ORPHA:95428
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegal...	ORPHA:333
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Lig4 Syndrome	Pancytopenia, Microcephaly, Acute lymphoblastic leukemia, Micropenis, Thrombocytopenia	OMIM:606593
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr...	ORPHA:210122
Diastrophic Dysplasia	Low-set, posteriorly rotated ears, Kyphosis, Cleft palate, Abnormal form of the vertebral bodies,...	ORPHA:628
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Microcephaly, Esophageal stricture, Hepatic fibrosis, Oral leukopl...	OMIM:224230
Hall-Riggs Syndrome	Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis	OMIM:234250
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Villous atrophy, Autoimmune thrombocytopenia, Functional abnormality...	ORPHA:391487
Wrinkly Skin Syndrome	Cerebellar vermis hypoplasia, Kyphoscoliosis, Slurred speech, Progressive cerebellar ataxia, High...	ORPHA:2834
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Pancytopenia, Mitral valve calcification, Abnormality of the spleen, Thrombocyt...	ORPHA:2072
Pycnodysostosis	Decreased response to growth hormone stimulation test, Hyperlordosis, Kyphosis, Hepatosplenomegal...	ORPHA:763
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Steatorrhea, Malabsorption	ORPHA:3217
Jacobsen Syndrome	Intestinal malrotation, Pyloric stenosis, Abnormality of the anus, Ectopic anus, Bone marrow hypo...	ORPHA:2308
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:1548
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:203800
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Tremor, Kyphosis, High palate, Scoliosis, Dysphagia, Overfolded helix, Macrotia	OMIM:617061
Trisomy 13	Kyphosis, High, narrow palate, Sensorineural hearing impairment, Cleft palate, Abnormal antihelix...	ORPHA:3378
Developmental Malformations-Deafness-Dystonia Syndrome	Generalized dystonia, Kyphosis, Sensorineural hearing impairment, Macroglossia, Scoliosis, Dyspha...	ORPHA:79107
Trichothiodystrophy 3, Photosensitive	Pyloric stenosis, Meckel diverticulum, Lymphopenia, Neutropenia	OMIM:616395
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly,...	OMIM:617281
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Atrial septal defect, Cerebellar vermis hypoplasia, Ventricular septal defe...	OMIM:274000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Anal stenosis, Posteriorly rotated ears, Tremor, Cupped ear, Overfolded helix...	OMIM:614080
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Short neck, Hypoplasia of the pons, Hypoplasia of the brainstem, Ce...	ORPHA:444072
Gm1-Gangliosidosis, Type I	Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Hypoplastic vertebral bodies, Hypertonia, Scoli...	OMIM:230500
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Pericarditis, Anemia	OMIM:615758
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Hypercalcemia, Peptic ulcer,...	ORPHA:913
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Kyphosis, Protruding ear, High palate, Cerebellar hypoplasia, Scoliosis, D...	ORPHA:261349
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Joubert Syndrome 5	Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Oculomotor ap...	OMIM:610188
Dubowitz Syndrome	Anal stenosis, Hypospadias, Abnormality of neutrophils, Microcephaly, Malabsorption, Thrombocytop...	ORPHA:235
Fucosidosis	Hepatomegaly, Kyphosis, Abnormality of the gallbladder, Abnormal pyramidal sign, Spastic tetraple...	ORPHA:349
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, High palate, Hypoplasia of the corpus callosum, A...	ORPHA:79330
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Impaired pain sensation, High palate, Micropeni...	OMIM:619005
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Short neck, Tremor, Kyphosis, Abnormal earlobe morphology, High palate, Scoliosis	ORPHA:85293
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, M...	OMIM:620005
Fryns Syndrome	Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cle...	OMIM:229850
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol...	ORPHA:582
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Tremor, Abnormality of the pancreas, Jaundice, Abnormal pineal mel...	ORPHA:69665
Mosaic Variegated Aneuploidy Syndrome 1	Leukemia, Cleft palate, Duodenal atresia	OMIM:257300
Leptin Receptor Deficiency	Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ...	OMIM:614963
Cowden Syndrome 5	Colonic diverticula, Hearing impairment, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High...	OMIM:615108
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Proteinuria, Abnormal circulating fatty-acid concentrat...	ORPHA:2298
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Diffuse leukoencephalopathy, Pse...	OMIM:169500
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Tricuspid s...	ORPHA:100078
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, High, narrow palate, Inability to walk, Cleft palate, Furrowed tongue, Cerebral atrophy...	ORPHA:464738
Trisomy 20P	Low-set, posteriorly rotated ears, Incoordination, Short neck, Kyphosis, Abnormal form of the ver...	ORPHA:261318
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Glioma, Microcephaly, Anorectal ano...	ORPHA:647
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Rift Valley Fever	Elevated hepatic transaminase, Hematemesis, Jaundice, Hepatitis, Hematuria, Anemia, Melena, Throm...	ORPHA:319251
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Hearing impairment, Kyphosis, Scoliosis, A...	ORPHA:94065
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Pain insensitivity, Ataxia, Jaundice,...	ORPHA:90062
Plasminogen Deficiency, Type I	Decreased level of plasminogen, Duodenal ulcer	OMIM:217090
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Posteriorly rotated ears, Rigidity, Kyphosis, Babinski sign, Abnorm...	OMIM:617527
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Dysphagia	ORPHA:169105
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Macrotia, High palate, Low-set ears	OMIM:615433
Cockayne Syndrome	Progressive gait ataxia, Hypertonia, Gastroesophageal reflux, Intention tremor, Hepatomegaly, Ata...	ORPHA:191
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Low-set ears, Brain atrophy, Short neck	OMIM:607131
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Cleft palate, Acute lymphoblastic leukemia, Colon cancer, Stomach cancer, D...	ORPHA:1052
O'Sullivan-Mcleod Syndrome	Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations	ORPHA:99965
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Tremor, Sensorineural hearing imp...	ORPHA:478
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Clonus, High, narrow palate, Abnormal curvature of the vertebral column, Protruding ea...	OMIM:619475
Cowden Syndrome 6	Colonic diverticula, Hearing impairment, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High...	OMIM:615109
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphangiectasia, Tracheoesophage...	OMIM:265380
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Hypospadias, Aplasia/Hyp...	ORPHA:84
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Aganglionic megacolon, Hyperuricemia	ORPHA:261222
Maternal Uniparental Disomy Of Chromosome 6	Cleft palate, Thrombocytopenia	ORPHA:96181
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Narrow palate, Renal insufficiency, Proteinuria, Hypoammonemia, Malabsorption, Prox...	ORPHA:534
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, H...	OMIM:610505
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Hematemesi...	ORPHA:100075
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Protein-losing enteropathy, Hy...	OMIM:618183
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Anal stenosis, Glioma, Microcephaly, Cleft palate, T lymphocytopenia...	OMIM:251260
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Nodular regenerative hyperplasia...	ORPHA:404454
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Desbuquois Dysplasia 1	Waddling gait, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:251450
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ...	ORPHA:1666
Arthrogryposis, Distal, Type 4	Torticollis, Kyphosis, Lumbar scoliosis, Scoliosis, Hypoplastic helices	OMIM:609128
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Pulmonary Arteriovenous Malformation	Liver abscess, Iron deficiency anemia, Gastrointestinal infarctions, Ischemic stroke, Bacterial e...	ORPHA:2038
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Holoprosencephaly-Caudal Dysgenesis Syndrome	Low-set ears, Abnormality of the diencephalon, Cleft palate	ORPHA:2165
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Oculopharyngodistal Myopathy 1	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Sensorineural hearing impairm...	OMIM:164310
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, Exocrine ...	OMIM:269200
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
22Q11.2 Deletion Syndrome	Anorectal anomaly, Hypoplasia of the thymus, Hypocalcemia, Gastroesophageal reflux, Vesicouretera...	ORPHA:567
Thrombocytopenia-Absent Radius Syndrome	Cleft palate, Horseshoe kidney, Abnormal cardiac septum morphology, Tetralogy of Fallot, Thromboc...	ORPHA:3320
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane...	ORPHA:2330
Basel-Vanagaite-Smirin-Yosef Syndrome	Uplifted earlobe, Kyphosis, Cleft palate, Furrowed tongue, Cerebral atrophy, High palate, Gastroe...	OMIM:616449
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,...	OMIM:177170
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoi...	OMIM:253220
Stickler Syndrome, Type I	Kyphosis, Sensorineural hearing impairment, Submucous cleft hard palate, Cleft palate, Platyspond...	OMIM:108300
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, High, narrow palate, Pineal cyst, Gastr...	OMIM:300967
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ventricular septal defect, Ectopic kidney, Microcephaly, High, narrow p...	OMIM:122470
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Rhizomelic Syndrome, Urbach Type	Short neck, Kyphosis, Cleft palate, Abnormal form of the vertebral bodies, High palate	ORPHA:3098
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, High palate, Scoliosis	OMIM:300676
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Low-set ears, Hearing impairment	ORPHA:2655
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Pituitary adenoma, Hypokalemia, Biconcave vertebral bodies, Vertebral compression fracture	OMIM:219090
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Ivic Syndrome	Intestinal malrotation, Thrombocytopenia, Leukocytosis, Rectovaginal fistula, Tetralogy of Fallot...	OMIM:147750
Joubert Syndrome 39	Molar tooth sign on MRI, Oculomotor apraxia, Cerebellar vermis hypoplasia, Pain insensitivity	OMIM:619562
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Digeorge Syndrome	Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Thromboc...	OMIM:188400
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis, Protruding ear	ORPHA:137834
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Akinesia, Tremor, Abnormal cerebellum morpho...	ORPHA:86309
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ...	ORPHA:508533
Lateral Meningocele Syndrome	Vertebral fusion, Posteriorly rotated ears, Short neck, Abnormality of the middle ear ossicles, K...	OMIM:130720
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Posteriorly placed anus, Asplenia, Biliary atresia, Abdominal situs inversus, Polys...	OMIM:306955
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Gait disturbance, Gastroesophageal reflux, Scoliosis, Dilated third ventricle, Hearing ...	ORPHA:500055
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Gait ataxia, H...	ORPHA:457359
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Abnormal midbrain morphology, Decreased response to ...	ORPHA:293987
Shashi-Pena Syndrome	Posteriorly rotated ears, Kyphosis, Cupped ear, Low-set ears, Scoliosis, Cervical C2/C3 vertebral...	OMIM:617190
Sarcoidosis	Abnormality of the gastrointestinal tract, Hemolytic anemia, Renal insufficiency, Hepatomegaly, P...	ORPHA:797
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Malabsorption, Tremor, Babinski sign, Hypertonia, Cirrhosis, Brain atrop...	OMIM:616539
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Low-set ears	ORPHA:2522
Microform Holoprosencephaly	Cleft palate, Duodenal atresia	ORPHA:280200
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Porencephalic cyst, Thrombocytopenia	OMIM:612394
Meckel Syndrome, Type 4	Agenesis of cerebellar vermis, Cleft palate, Bile duct proliferation, Molar tooth sign on MRI, Da...	OMIM:611134
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Hydroxyprolinemia, Sensorineural hearing impairment, Hyperphosphatemia, Hyperuricemia, ...	OMIM:239000
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Feingold Syndrome Type 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia	ORPHA:391641
Orofaciodigital Syndrome Iii	Kyphosis, Tongue nodules, Myoclonus, Low-set ears, Bifid tongue, Bifid uvula	OMIM:258850
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Kyphosis, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Abnormal...	ORPHA:3082
Clark-Baraitser syndrome	Kyphosis, Exaggerated median tongue furrow, Scoliosis	OMIM:300602
Yellow Fever	Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, El...	ORPHA:99829
Fetal And Neonatal Alloimmune Thrombocytopenia	Hematuria, Gastrointestinal hemorrhage, Melena, Neonatal alloimmune thrombocytopenia	ORPHA:853
Ivic Syndrome	Anal atresia, Leukocytosis, Rectovaginal fistula, Thrombocytopenia	ORPHA:2307
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis	OMIM:614328
Papillorenal Syndrome	Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr...	OMIM:120330
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi...	OMIM:304150
Wolf-Hirschhorn Syndrome	Low-set, posteriorly rotated ears, Sacral dimple, Ataxia, Kyphosis, Abnormality of the gallbladde...	ORPHA:280
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis	OMIM:611376
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Kyphosis, Splenomegaly, Unsteady gait, Conductive he...	ORPHA:90324
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Short neck, Kyphosis,...	ORPHA:2311
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Short neck, Kyphosis, Microtia, Severe sensorineural hearing i...	ORPHA:2983
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Corpus callosum atrophy, Kyphosis, Cerebral atrophy, High palate, Low-set ears, Dilated third ven...	OMIM:619244
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Aplasia/Hypoplasia of the earlobes, Hemivertebrae, Abnormal form of t...	ORPHA:2916
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Hypouricemia, Xanthine nephrolithiasis, Increased urinary sulfite level...	OMIM:252160
Cowden Syndrome	Ataxia, Kyphosis, Abnormal cerebellum morphology, Furrowed tongue, Hamartomatous polyposis, Macro...	ORPHA:201
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione...	OMIM:252150
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Dystonia, Tremor, Hemiplegia/hem...	ORPHA:51
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Thyroid lymphangiectasia, Rectal prolapse, Pulmonary lymphangiectas...	OMIM:235510
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Broad-based gait, Ataxia, Cleft soft palate, Decreased response to growth hormone ...	ORPHA:268261
Gardner Syndrome	Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic pol...	ORPHA:79665
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Kyphosis, Abnormal brainstem morphology, Protruding ear, Posterior pituitary hypoplasia, Gastroes...	ORPHA:464311
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma...	ORPHA:247806
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ataxia, Anterior pituitary hypoplasia, Ventricular septal defect, Dysplastic corpus callosum, Hig...	ORPHA:466791
Mosaic Variegated Aneuploidy Syndrome 2	Duodenal atresia	OMIM:614114
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Intestinal pseudo-obstruction, Short neck, Kyphosis, Splenomegaly, Hepatosplenomega...	OMIM:309900
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Tetraplegia, R...	ORPHA:79102
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy	OMIM:618154
Fibular Hemimelia	Thrombocytopenia, Difficulty walking, Abnormal heart morphology	ORPHA:93323
Jacobsen Syndrome	Hypospadias, Ventricular septal defect, Microcephaly, Pyloric stenosis, Atrial septal defect, Ann...	OMIM:147791
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly, Hearing impairment	ORPHA:93274
Cockayne Syndrome A	Cerebellar atrophy, Hepatomegaly, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked pot...	OMIM:216400
Focal Dermal Hypoplasia	Acute hepatic failure, Gastroesophageal reflux, Duodenal atresia	ORPHA:2092
Schwartz-Jampel Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Elevated circulating creatine k...	ORPHA:800
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Chorea, Hematuria, Leukopenia, Thrombocyt...	ORPHA:536
Familial Adenomatous Polyposis 4	Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma	OMIM:617100
Genitourinary And/Or Brain Malformation Syndrome	Hypospadias, Absent septum pellucidum, Ileal atresia, Jejunal atresia, Dysplastic corpus callosum...	OMIM:618820
Dyrk1A-Related Intellectual Disability Syndrome	Anterior pituitary hypoplasia, Kyphosis, Pyloric stenosis, Protruding ear, Hypoplasia of the brai...	ORPHA:464306
Distal Deletion 12Q	High, narrow palate, Esophageal atresia, Pyloric stenosis, Biliary atresia, Annular pancreas, Mic...	ORPHA:96149
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Proteinuria, Elevated circulating creatine kinase conce...	ORPHA:99827
Zttk Syndrome	Absent gallbladder, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Dysplastic co...	OMIM:617140
Familial Adenomatous Polyposis	Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Stomach cancer, Adenomatous co...	ORPHA:733
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Kyphosis, Chorea, Hepatitis, Platyspondyly...	ORPHA:1855
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Sensorineural hearing impairment, Scoliosis	ORPHA:1883
Heterotaxy, Visceral, 5, Autosomal	Intestinal malrotation, Asplenia, Abdominal situs inversus, Abdominal situs ambiguus, Duodenal at...	OMIM:270100
Weaver Syndrome	Kyphosis, Slurred speech, Poor fine motor coordination, Hypertonia, Cerebellar hypoplasia, Scolio...	OMIM:277590
Mend Syndrome	Sacral dimple, Abnormal auditory evoked potentials, Kyphosis, Elevated 8-dehydrocholesterol, Elev...	ORPHA:401973
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl...	OMIM:223800
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal...	OMIM:115470
Urban-Rogers-Meyer Syndrome	Kyphosis, Overfolded helix, Aplasia/Hypoplasia of the earlobes, Short neck	ORPHA:3409
Alport Syndrome 1, X-Linked	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Microscopic...	OMIM:301050
Tarp Syndrome	Broad-based gait, Extramedullary hematopoiesis, Cleft palate, Glossoptosis, Abnormal duodenum mor...	ORPHA:2886
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Cholangitis, Microve...	OMIM:124000
Marshall-Smith Syndrome	Thoracic scoliosis, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Pyloric stenosi...	OMIM:602535
Congenital Disorder Of Deglycosylation 1	Hyperalaninemia, Hepatomegaly, Pain insensitivity, Elevated hepatic transaminase, Elevated circul...	OMIM:615273
Multiple Pterygium-Malignant Hyperthermia Syndrome	Posteriorly rotated ears, Kyphosis, Cleft palate, Abnormal circulating creatine kinase concentrat...	ORPHA:2215
Ruvalcaba Syndrome	Kyphosis, Scoliosis	OMIM:180870
Hurler Syndrome	Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Hepatosplen...	OMIM:607014
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Inability to walk, Kyphosis, Unsteady gait, Scoliosis	OMIM:618493
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Kyphoscoliosis, Asymmetry of the ears, Kyphosis, Inability to walk, Unstea...	ORPHA:3063
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Hypospadias, Ketonuria, Ataxia, Microcephaly, Bicuspid aortic valve...	OMIM:220111
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple	OMIM:618272
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Tremor, Cleft palate, Choreoathetosis, Myoclonus, D...	ORPHA:1934
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Fountain Syndrome	Kyphosis, Sensorineural hearing impairment, Abnormal form of the vertebral bodies, Scoliosis, Spi...	ORPHA:3219
Achondroplasia	Lumbar hyperlordosis, Hearing impairment, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis...	ORPHA:15
Trisomy 9P	Sacral dimple, Short neck, Kyphosis, Protruding ear, Scoliosis, Macrotia	ORPHA:236
Distal Triplication 15Q	Kyphosis, Sensorineural hearing impairment, Cupped ear, Microtia, High palate, Scoliosis, Low-set...	ORPHA:314588
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Protruding ear, Macroglossia, Abnormal antihelix morphology, Gastroesophageal reflux, S...	ORPHA:261144
Lenz-Majewski Hyperostotic Dwarfism	Hypospadias, Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Cleft palat...	OMIM:151050
Harrod Syndrome	Kyphosis, Protruding ear, High palate, Scoliosis, Cerebral cortical atrophy	ORPHA:2115
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, A...	OMIM:203700
Miller-Dieker Lissencephaly Syndrome	Cleft palate, Duodenal atresia	OMIM:247200
Norrie Disease	Clonus, Macrotia, Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morphology, ...	ORPHA:649
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Hemifacial spasm, Elevated cir...	ORPHA:466677
Koolen-De Vries Syndrome	Vertebral fusion, High, narrow palate, Kyphosis, Pyloric stenosis, Cleft palate, Narrow palate, P...	ORPHA:96169
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Muscular ventricular septal defect, Hypoplasia of the corpus callosum...	OMIM:618569
Magel2-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Kyphosis, Xerostomia, Gastroesophageal reflux, Small pituitary gl...	ORPHA:398069
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Furrowed tongue, Gastroesophageal reflux, High palate, Annular pancreas, Duodenal atresia	OMIM:616975
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Asplenia, Kyphosis, Cleft palate, Protruding ear, Abdominal situs i...	OMIM:619123
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Colitis, Exocrine pancreatic insufficiency, Steatorrhea	ORPHA:309031
Cockayne Syndrome B	Hepatomegaly, Ataxia, Cerebellar calcifications, Abnormal auditory evoked potentials, Abnormal pi...	OMIM:133540
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hypopituitarism, ...	OMIM:300942
Leptospirosis	Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Hyperproteinemia, Elevat...	ORPHA:509
Camurati-Engelmann Disease	Waddling gait, Hepatomegaly, Ataxia, Hyperlordosis, Kyphosis, Splenomegaly, Abnormality of the ve...	ORPHA:1328
Familial Adenomatous Polyposis 1	Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small...	OMIM:175100
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Posteriorly rotated ears, Hamartoma of tongue, Conductive hearing i...	OMIM:277170
Craniopharyngioma	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ...	ORPHA:54595
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Short neck, Kyphosis, Hemive...	ORPHA:958
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Long uvula, Hypertriglyceridemia, Kyphoscoliosis, Impaired tem...	ORPHA:536532
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis, Hearing impairment	OMIM:259420
Zygomycosis	Gastrointestinal hemorrhage, Gastritis, Hematemesis, Mediastinal lymphadenopathy, Peritonitis, En...	ORPHA:73263
Cono-Spondylar Dysplasia	Short neck, Kyphosis, Poor coordination, Low-set ears, Scoliosis	ORPHA:420794
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Mgat2-Cdg	Low-set, posteriorly rotated ears, Posteriorly rotated ears, Kyphosis, Abnormal earlobe morpholog...	ORPHA:79329
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia, High palate, Increased urinary type 1 collagen N-terminal telopeptide level	ORPHA:93315
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Macroglossia, Hearing impairment	ORPHA:583
Osteogenesis Imperfecta	Abnormal endocardium morphology, Somatic sensory dysfunction, Intestinal obstruction, Ataxia, Hyp...	ORPHA:666
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
15Q14 Microdeletion Syndrome	Low-set ears, Kyphosis, Cleft palate, Scoliosis	ORPHA:261190
3M Syndrome	Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Protruding ear, Scoliosis	ORPHA:2616
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Multiple Pterygium Syndrome, Escobar Variant	Thoracolumbar scoliosis, Short neck, Kyphosis, Cleft palate, Fused cervical vertebrae, High palat...	OMIM:265000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastrointestinal dysmotility, Simplified gyral pattern, Cerebellar hemisphere hypoplasia, Gastroe...	ORPHA:500150
Genitopalatocardiac Syndrome	Kyphosis, Abnormal mesentery morphology, Abnormality of the gallbladder, Cleft palate, Scoliosis,...	ORPHA:2075
Meckel Syndrome, Type 1	Dilated fourth ventricle, Accessory spleen, Intestinal malrotation, Malformation of the hepatic d...	OMIM:249000
Smith-Lemli-Opitz Syndrome	Low-set, posteriorly rotated ears, Aganglionic megacolon, Short neck, Kyphosis, Pyloric stenosis,...	ORPHA:818
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis	ORPHA:3121
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Kyphosis, Abnormal antihelix morphology, Vertebral segmentatio...	ORPHA:1005
Hypoplasminogenemia	Decreased level of plasminogen, Duodenal ulcer	ORPHA:722
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Anteverted ears, Kyphosis, Pyloric stenosis, Cleft palate, Narro...	OMIM:610443
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Cleft palate	OMIM:614120
White-Kernohan Syndrome	Hydroureter, Dysplastic corpus callosum, Horseshoe kidney, Anteriorly placed anus, Gastroesophage...	OMIM:619426
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
Charge Syndrome	Anal stenosis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Hypocalcemia, Dysphag...	OMIM:214800
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Hearing impairment	ORPHA:1860
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Duodenal atresia	ORPHA:468631
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Duodenal ulcer, Hypercalcemia, Peptic ulcer, Hematemesis, Insulinoma, T...	ORPHA:652
Intellectual Developmental Disorder, Autosomal Dominant 57	Posteriorly rotated ears, Kyphosis, Tip-toe gait, High palate, Scoliosis	OMIM:618050
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Kyphosis, Pyloric stenosis, Abnormality of the spleen, Hemiple...	ORPHA:1606
Scedosporiosis	Abnormal jejunum morphology	ORPHA:449280
Holoprosencephaly 13, X-Linked	Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal...	OMIM:301043
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology	ORPHA:2290
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis, Dysphagia	OMIM:617143
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Posteriorly rotated ears, Kyphosis, Low-set ears, Scoliosis, Hearing impairment	OMIM:619951
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Kyphosis, Platyspondyly, Gastroesophageal reflux, Hearing impairment	OMIM:616482
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr...	OMIM:155310
Spondyloocular Syndrome	Unsteady gait, Duodenal ulcer	OMIM:605822
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hamartoma of tongue, Short neck, Cleft palate, Hypoplasia of the br...	OMIM:616546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Elevated circulating creatine kinase concentration, Hypoplasia of the brain...	OMIM:253280
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Kyphosis, Hemiplegia/he...	ORPHA:394
Roberts Syndrome	Microcephaly, Long penis, Cleft palate, High palate, Polycystic kidney dysplasia, Thrombocytopenia	ORPHA:3103
Hajdu-Cheney Syndrome	Hepatomegaly, Intestinal malrotation, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Spl...	ORPHA:955
Marden-Walker Syndrome	Posteriorly rotated ears, Kyphosis, Pyloric stenosis, Submucous cleft hard palate, Abnormal form ...	ORPHA:2461
Menke-Hennekam Syndrome 2	Duodenal ulcer	OMIM:618333
Hurler-Scheie Syndrome	Splenomegaly, Kyphosis, Scoliosis, Hepatomegaly	OMIM:607015
Dysostosis, Stanescu Type	Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis	ORPHA:1798
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Dandy-Walker malformation, Hamartoma of tongue, Macrotia, Cleft palate, Lobulated tongue, Cerebel...	OMIM:616300
Prader-Willi Syndrome	Decreased response to growth hormone stimulation test, Impaired pain sensation, Kyphosis, Poor gr...	OMIM:176270
Cog1-Cdg	Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Cerebellar vermis hypoplasia...	ORPHA:263508
Familial Osteodysplasia, Anderson Type	Kyphosis, Abnormal earlobe morphology, Abnormal form of the vertebral bodies, Large earlobe, Hype...	ORPHA:2769
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Short neck, Kyphosis, Cupped ear, Hemivert...	OMIM:618223
Somatomammotropinoma	Cerebral palsy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, S...	ORPHA:314769
Congenital Heart Defects And Skeletal Malformations Syndrome	Intestinal malrotation, Kyphosis, High palate, Scoliosis, Anal atresia	OMIM:617602
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short neck, Kyphosis, Cleft palate, Scoliosis, Low-set ears, ...	ORPHA:140
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Microphthalmia, Lenz Type	Low-set, posteriorly rotated ears, Hyperlordosis, External ear malformation, Kyphosis, Scoliosis,...	ORPHA:568
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Sensorineural hearing impairment, Irregular vertebr...	OMIM:271700
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Sacral dimple, Decreased response to growth hormone stimulation test, Hearing imp...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Sacral dimple, Decreased response to growth hormone stimulation test, Hearing imp...	ORPHA:363958
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral en...	OMIM:143095
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly, High palate	OMIM:616294
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Cdags Syndrome	Rectourethral fistula, Kyphosis, Sensorineural hearing impairment, Cleft palate, Rectovaginal fis...	OMIM:603116
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Posteriorly rotated ears, Small pituitary gland, Low-set ears, Dysgenesis of the cerebellar vermi...	OMIM:619479
Monosomy 9Q22.3	Short neck, Kyphosis, Abnormality of the vertebral column, Chiari malformation, Low-set ears, Thi...	ORPHA:77301
Mend Syndrome	Sacral dimple, Posteriorly rotated ears, Kyphosis, Hypertonia, High palate, Low-set ears, Overfol...	OMIM:300960
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Posteriorly rotated ears, Short neck, Prominent crus of helix, Kyphosis, Sensor...	OMIM:619194
Noonan Syndrome 14	Posteriorly rotated ears, Short neck, Kyphosis, High, narrow palate, Low-set ears	OMIM:619745
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Small intestinal dysmotility, Kyphosis, Gastroesophageal reflux, Scoliosis, Dysphagia, Difficulty...	OMIM:619482
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Calcification of the auricular cartilage, Kyphosis, Abnormal form of the vertebral bodies, Irregu...	ORPHA:3042
2Q31.1 Microdeletion Syndrome	Short neck, Kyphosis, Cleft palate, Vertebral segmentation defect, Scoliosis, Low-set ears, Cereb...	ORPHA:251014
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Kyphosis, High, narrow palate, High palate, Scoliosis	OMIM:177850
Iniencephaly	Anal atresia, Duodenal atresia	ORPHA:63259
Coffin-Siris Syndrome 1	Sacral dimple, Duodenal ulcer, Intestinal malrotation, Abnormal pinna morphology, Posteriorly rot...	OMIM:135900
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Cohen Syndrome	Aplasia/Hypoplasia of the tongue, Kyphosis, High, narrow palate, Aplasia/Hypoplasia of the earlob...	ORPHA:193
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Kyphosis, Cleft palate, Anteriorly placed anus, Scoliosis, Low-set ear...	OMIM:616894
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Hearing impairment	OMIM:166220
Acromegaly	Cerebral palsy, Elevated circulating growth hormone concentration, Kyphosis, Spinal canal stenosi...	ORPHA:963
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Xerostomia, Enlargement of parotid gland, Tubulointerstitial nephritis,...	ORPHA:79078
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, Hyperlordosis, Kyphosis, High, narrow palate, High pa...	OMIM:162300
Mucolipidosis Type Ii	Splenomegaly, Kyphosis, Inability to walk, Sensorineural hearing impairment, Hepatosplenomegaly, ...	ORPHA:576
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Low-set, posteriorly rotated ears, Hamartoma of tongue, Short neck, Dil...	ORPHA:434179
Diets-Jongmans Syndrome	Duodenal atresia	OMIM:618846
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Cleft palate, Fused cervical vertebrae, Verteb...	ORPHA:1724
Aspartylglucosaminuria	Hepatomegaly, Kyphosis, Spasticity, Cerebral atrophy, Macroglossia, Platyspondyly, Spondylolysis,...	OMIM:208400
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Protruding ear, Scoliosis, Absent earlobe, Hearing impairment	OMIM:619557
Neurofibromatosis Type 1	Ataxia, Kyphosis, Paresthesia, Scoliosis, Neoplasm of the gastrointestinal tract, Hearing impairment	ORPHA:636
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Pancreatitis	OMIM:610475
Autosomal Recessive Robinow Syndrome	Low-set, posteriorly rotated ears, Sacral dimple, Short neck, Kyphosis, Vertebral segmentation de...	ORPHA:1507
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Poorly formed metencephalon, Bifid uvula, Cerebellar dysplasia	OMIM:601374
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Tracheoesophageal fistula, Gastroesophageal reflux, Rectova...	OMIM:107480
Witteveen-Kolk Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Phimosis, Microcephaly, Dyspl...	OMIM:613406
Sotos Syndrome	Sacrococcygeal teratoma, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hypercalcemia, Trem...	ORPHA:821
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, High palate, High, narrow palate	OMIM:616914
Primrose Syndrome	Calcification of the auricular cartilage, Ataxia, Elevated circulating alpha-fetoprotein concentr...	OMIM:259050
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Ventricular sept...	OMIM:163950
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Protruding ear, Prominent coc...	OMIM:249420
Stickler Syndrome	Kyphosis, Hemiplegia/hemiparesis, Sensorineural hearing impairment, Spinal canal stenosis, Abnorm...	ORPHA:828
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Lumbar hyperlordosis, Kyphosis, Increased circulating gonadotropin level, Small pituitary gland, ...	ORPHA:2232
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ky...	OMIM:309000
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Short neck, Celiac disease, Kyphosis, High, narrow palate, Increas...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Short neck, Celiac disease, Kyphosis, High, narrow palate, Increas...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Short neck, Celiac disease, Kyphosis, High, narrow palate, Increas...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Short neck, Celiac disease, Kyphosis, High, narrow palate, Increas...	ORPHA:881
Occipital Horn Syndrome	Hiatus hernia, Kyphosis, High, narrow palate, Jaundice, Hepatitis, Dysphagia, Cholestasis, Platys...	ORPHA:198
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Sensorineural hearing impairment, High palate	OMIM:609944
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Posteriorly rotated ears, Hamartoma of tongue, Cleft palate, Aplasi...	OMIM:615948
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis, Inflammation of the large intestine	OMIM:106300
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Cleidocranial Dysplasia 1	Hearing impairment, Kyphosis, High, narrow palate, Narrow palate, Cleft palate, High palate, Spon...	OMIM:119600
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis, Cleft palate, Ectopic anus, Anal atresia, Hearing impairment	ORPHA:85199
Fraser Syndrome 1	Abnormal small intestine morphology, Abnormal thymus morphology, Cleft palate, Abnormality of the...	OMIM:219000
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Aganglionic megacolon, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Subcortical ...	ORPHA:2273
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres...	OMIM:259770
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Abnormal pinna morphology, Kyphosis, Sensorine...	OMIM:194190
Branchiooculofacial Syndrome	Agenesis of cerebellar vermis, Posteriorly rotated ears, Hyperlordosis, Malrotation of colon, Kyp...	OMIM:113620
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Alström Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Gastroesophageal reflu...	ORPHA:64
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Abnormal duodenum morphology	OMIM:601776
Cerebrocostomandibular Syndrome	Kyphosis, Cleft palate, Glossoptosis, Atresia of the external auditory canal, Conductive hearing ...	ORPHA:1393
Lenz-Majewski Hyperostotic Dwarfism	Kyphosis, High, narrow palate, Submucous cleft hard palate, Cleft palate, Scoliosis, Macrotia, Bi...	ORPHA:2658
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Short hard palate, Scoliosis	ORPHA:1969
Poland Syndrome	Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Abnormality of the liver, Sco...	ORPHA:2911
Coffin-Lowry Syndrome	Kyphosis, Rectal prolapse, Sensorineural hearing impairment, Narrow palate, Lumbar kyphosis, Prot...	OMIM:303600
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Anal atresia, Scoliosis	OMIM:182210
Lymphedema-Distichiasis Syndrome	Kyphosis, Cleft palate	OMIM:153400
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	OMIM:300106
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Ramon Syndrome	Kyphosis, Narrow palate, Scoliosis, Hearing impairment	OMIM:266270
Viss Syndrome	Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ...	OMIM:619472
Marfan Syndrome	Kyphosis, High, narrow palate, Cleft palate, Scoliosis, Spondylolisthesis	ORPHA:558
17Q11 Microdeletion Syndrome	Abnormal central motor function, Gastrointestinal stroma tumor, Kyphosis, Abnormality of the vert...	ORPHA:97685
Proteus Syndrome	Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Low-set ears, Macrotia,...	ORPHA:744
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Anterior concavity of thoracic vertebrae, Kyphosis, Pyloric stenosi...	OMIM:216340
Wrinkly Skin Syndrome	Low-set ears, Kyphosis, High palate, Scoliosis	OMIM:278250

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ireb2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ireb2.

No publications found that use IMPC mice or data for Ireb2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ireb2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ireb2^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Ireb2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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