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Gene: Nexmif MGI:2148050

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Gene Summary

Name:
neurite extension and migration factor
Synonyms:
Xpn,  C77370

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased basophil cell number Nexmifem1(IMPC)Tcp HEM Early adult 3.14×10-07
enlarged urinary bladder Nexmifem1(IMPC)Tcp HEM Early adult 0.00
decreased lean body mass Nexmifem1(IMPC)Tcp HEM Early adult 4.14×10-05
small spleen Nexmifem1(IMPC)Tcp HEM Early adult 0.00
abnormal sternum morphology Nexmifem1(IMPC)Tcp HET Early adult 0.00
increased circulating triglyceride level Nexmifem1(IMPC)Tcp HEM Early adult 3.61×10-05
increased red blood cell distribution width Nexmifem1(IMPC)Tcp HEM Early adult 4.44×10-16
increased mean corpuscular volume Nexmifem1(IMPC)Tcp HEM Early adult 0.00
male infertility Nexmifem1(IMPC)Tcp HOM Early adult 0.00
decreased body length Nexmifem1(IMPC)Tcp HEM Early adult 3.41×10-06
increased eosinophil cell number Nexmifem1(IMPC)Tcp HEM Early adult 8.47×10-09
hyperactivity Nexmifem1(IMPC)Tcp HET Early adult 2.22×10-06
increased monocyte cell number Nexmifem1(IMPC)Tcp HEM Early adult 2.70×10-05
increased total body fat amount Nexmifem1(IMPC)Tcp HEM Early adult 2.84×10-05
increased blood urea nitrogen level Nexmifem1(IMPC)Tcp HEM Early adult 1.39×10-05
increased mean corpuscular hemoglobin Nexmifem1(IMPC)Tcp HEM Early adult 8.18×10-11
small kidney Nexmifem1(IMPC)Tcp HET Early adult 0.00
abnormal sternum morphology Nexmifem1(IMPC)Tcp HEM Early adult 0.00
increased neutrophil cell number Nexmifem1(IMPC)Tcp HET Early adult 1.33×10-05
impaired contextual conditioning behavior Nexmifem1(IMPC)Tcp HEM Early adult 3.20×10-05
abnormal skin morphology Nexmifem1(IMPC)Tcp HET Early adult 0.00
decreased bone mineral content Nexmifem1(IMPC)Tcp HEM Early adult 2.15×10-05
hyperactivity Nexmifem1(IMPC)Tcp HEM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

Gross Pathology and Tissue Collection

Images

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

73 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

15 Images

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Histopathology

Images

3 Images

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Human diseases caused by Nexmif mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myoclonic-Astatic Epilepsy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Fr... ORPHA:1942
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Tonic... OMIM:300912
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Abnormal repetitive mannerisms ORPHA:85277

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Syndactyly, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenom... OMIM:615631
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J... OMIM:603552
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... OMIM:616860
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly OMIM:619175
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Schizophrenia 15
Hyperactivity OMIM:613950
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia, Anemia OMIM:238700
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... OMIM:212050
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Syndactyly, Small for gestational age, Hepatomegaly, Anisocyto... OMIM:224120
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form pee... OMIM:608636
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Syndactyly, Hemolytic-uremic syndrome, Osteop... ORPHA:2169
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Autism
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... OMIM:607373
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Renal insufficie... OMIM:245900
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Elevat... OMIM:619644
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... OMIM:607115
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic st... OMIM:614480
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg... OMIM:612526
Oslam Syndrome
Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... ORPHA:2760
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Nephrocalc... OMIM:611590
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... OMIM:300908
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... OMIM:232700
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Aggressive behavior, Clinodactyly of the 5th finger, Clinodactyly of the 5t... OMIM:618010
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Dysphagia, Wei... ORPHA:2070
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti... ORPHA:486
Roifman Syndrome
Hip contracture, Epiphyseal dysplasia, Eosinophilia, Delayed proximal femoral epiphyseal ossifica... ORPHA:353298
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Hydrocephalus, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive man... OMIM:618709
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Emotional lab... OMIM:617171
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Lymphadenop... ORPHA:39041
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Roifman Syndrome
Hip contracture, Short metacarpal, Hepatomegaly, Eosinophilia, Splenomegaly, Short toe, Irregular... OMIM:616651
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Craniosynostosis, Clubbing, Hip dislocation, Joint contracture of the hand OMIM:618523
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Diamond-Blackfan Anemia 6
Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Increased mean corpuscular volume, T... OMIM:612561
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Kimura Disease
Lymphadenopathy, Eosinophilia, Follicular hyperplasia ORPHA:482
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... ORPHA:811
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
N-Acetylaspartate Deficiency
Short attention span, Broad-based gait, Unsteady gait, Seizure, Truncal ataxia, Abnormal repetiti... OMIM:614063
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Frontotemporal dementia, Disinhibition, Dysphagia, Emotional labil... OMIM:612069
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... OMIM:613845
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Rocker bottom foot, Anisocytosis, Flexion contracture, Renal hypoplasia, Lacticacid... OMIM:604273
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Hyperactivity, Abnormal social behavior ORPHA:436151
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Flexion contracture, Elevated circulating creatine kinase concentration OMIM:253600
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Cellulitis ORPHA:3165
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Abnormal eating ... ORPHA:101039
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Childhood Disintegrative Disorder
Social and occupational deterioration, Seizure, Dementia, Abnormal emotion, Progressive language ... ORPHA:168782
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatosplenomegaly, Decr... OMIM:609628
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Horseshoe kidney, Increased mean corpus... OMIM:612562
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612926
Pick Disease Of Brain
Frontotemporal dementia, Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropria... OMIM:172700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Esophagitis, Eosinophilic, 2
Failure to thrive, Eosinophilia, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Eosinophilia, Dysphagia OMIM:610247
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Confusion, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Ele... OMIM:274150
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612924
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp... ORPHA:251004
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, He... OMIM:278000
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Eosinophilia, Craniosynostosis, Cutaneous abscess OMIM:147060
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia... OMIM:304790
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Anorexia, Hepatitis, Hepatosplenomegaly, Failure to thrive secondary to recurrent i... ORPHA:169160
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizure, Bruxism... ORPHA:561854
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Focal motor status epilepticus, Focal-onset seizure, Seizure, Falls,... OMIM:619150
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom... OMIM:277410
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Membranous... OMIM:618999
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Abscess, Eosinophilia, Hepatic cysts, Abnormality o... ORPHA:400
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contr... OMIM:617591
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia ORPHA:75234
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Obesity, Polyphagia, Childhood-onset truncal obesity ORPHA:71529
Wells Syndrome
Eosinophilia, Cellulitis ORPHA:901
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Tonic seizure, Focal-onset seizure, Irritability, Seizure, Difficulty walking, ... OMIM:617393
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Failure to thrive, Inguinal hernia, Intermittent thrombocytopenia, Perianal abscess... OMIM:612541
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hep... OMIM:619013
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,... ORPHA:247585
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis OMIM:610947
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Gait disturba... OMIM:600795
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia ORPHA:90045
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Hyperca... ORPHA:199299
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Orotic Aciduria
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Oroticaciduria,... OMIM:258900
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Hydrocephalus, Seizure, Small nail, Abnorma... OMIM:619470
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... OMIM:102700
Developmental And Epileptic Encephalopathy 107
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure OMIM:620033
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Ab... ORPHA:444002
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... OMIM:603553
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Os... ORPHA:231214
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Seizure, Impaired social interactions, Abnormal repet... OMIM:617820
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... OMIM:610717
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Hepatomegaly, Anisocytosis, Cardiomegaly, M... OMIM:618278
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Osteoporosis, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular v... OMIM:127550
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Narrow grea... OMIM:617425
Alveolar Echinococcosis
Liver abscess, Abnormal pelvis bone morphology, Eosinophilia, Cholangitis, Portal hypertension, H... ORPHA:284
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis OMIM:177000
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, Hyperactivity, Atax... ORPHA:168491
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Hypospadias, Pure red cell aplasia, Absent thu... ORPHA:124
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Pancreatitis OMIM:246650
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne... OMIM:619774
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi... OMIM:617237
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2902
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Developmental And Epileptic Encephalopathy 58
Inability to walk, Seizure, Abnormal repetitive mannerisms, Status epilepticus OMIM:617830
Hsd10 Disease
Short attention span, Ataxia, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Dysphagia, A... ORPHA:391417
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:540
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Self hugging, Increased body weight, Head-banging, Short pal... OMIM:182290
Shwachman-Diamond Syndrome 1
Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co... OMIM:260400
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann... OMIM:239500
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Re... ORPHA:470
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Neutrophilia, Confusion, Leukocytosis, C... ORPHA:3260
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Confusion, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degen... OMIM:603471
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia, Dysphagia, Recurrent hand flapping... OMIM:617862
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Diamond-Blackfan Anemia 1
11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Absent thumb, Short thumb, Hy... OMIM:105650
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Abnormal proportio... ORPHA:443811
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... ORPHA:158048
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Hip dysplasia, Increased mean corpuscular volume, Dysphagia, Thrombo... ORPHA:261250
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggre... OMIM:619580
Congenital Erythropoietic Porphyria
Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scal... ORPHA:79277
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... OMIM:274000
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Castleman Disease
Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive ... ORPHA:160
Igg4-Related Aortitis
Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight ... ORPHA:449400
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity diso... OMIM:301029
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Stage 5 chronic kidney disease, N... OMIM:617575
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:2348
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Aspergillosis
Eosinophilia, Abnormal rib morphology, Hepatitis, Abnormal long bone morphology, Neutropenia ORPHA:1163
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Depression, Seizure, Dementia, Progressive language deterioration... ORPHA:79264
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp... ORPHA:79083
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Narrow greater sciatic notch, Abnormal repetitive mannerisms, Short phalanx of... ORPHA:508533
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... ORPHA:2686
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis OMIM:613877
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Cellulitis, Lymphadeni... OMIM:618986
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Clonic seizure OMIM:615282
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Thin ribs, Decreased skull ossification, Slender long bone, Micropen... OMIM:602361
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Eosinophilia, Hepatitis, Lymphadenopathy, Weight loss, Tubulointerstitial ne... ORPHA:139402
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self... ORPHA:449291
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria OMIM:605899
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... OMIM:620292
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Abscess, Eosinophi... OMIM:615816
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Eosinophilia, Cutaneous abscess OMIM:618282
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut... ORPHA:293173
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... OMIM:616341
H Syndrome
Hallux valgus, Hypertriglyceridemia, Lipodystrophy, Microcytic anemia, Osteolysis, Hepatosplenome... ORPHA:168569
Chylomicron Retention Disease
Hepatic steatosis, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Increased hepatocellular li... ORPHA:71
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Overweight, Flexion contracture, Small hand, Obe... OMIM:616222
Brunet-Wagner Neurodevelopmental Syndrome
Low anterior hairline, Myoclonic seizure, Self-injurious behavior, Thin eyebrow, Abnormal repetit... OMIM:619690
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin... ORPHA:33543
Myoclonic-Astatic Epilepsy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Fr... ORPHA:1942
Igg4-Related Pachymeningitis
Confusion, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Dy... ORPHA:449427
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... ORPHA:280365
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... ORPHA:49041
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... ORPHA:90041
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Bone cyst, Cirrhosis, Hyp... ORPHA:528
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Seizure, Bruxism, Abnormal repetitive ... OMIM:618718
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Loeffler Endocarditis
Left ventricular hypertrophy, Eosinophilia, Weight loss ORPHA:75566
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Eosinophilia, Craniosynostosis, Cellulitis ORPHA:2314
Coccidioidomycosis
Renal insufficiency, Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopath... ORPHA:228123
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Seizure, Atten... OMIM:617695
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... OMIM:613027
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Highly arched eyebrow, Repetitive compulsive behavior, Seizure, Compulsive behavio... ORPHA:352490
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... ORPHA:447
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Jaundice, Hepatosplen... ORPHA:444490
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Seizure, Attenti... OMIM:620242
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... OMIM:615381
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Highly arched eyebrow, Synophrys, Polyphagia, Generalized hirsutism, Self-... ORPHA:228402
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Seizure, Dementia, Agitation, Semantic dementia, Disinhibition, Myoclonus, Mem... ORPHA:1020
Incontinentia Pigmenti
Finger syndactyly, Camptodactyly of finger, Eosinophilia, Abnormal dental enamel morphology, Abse... ORPHA:464
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Osteo... ORPHA:79259
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kina... OMIM:613327
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seizure, Focal-onset sei... OMIM:618917
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... ORPHA:275761
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... ORPHA:64280
Hereditary Geniospasm
Abnormal social behavior, Chin myoclonus ORPHA:53372
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure, Oral-pharyngeal dyspha... ORPHA:208447
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Diminished ability to concentrate, Fe... OMIM:615516
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:167
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Atonic seizure, Infantile spasms, Inability to walk, Synophrys, Low anterior hairline, Generalize... ORPHA:411986
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Lipod... OMIM:269700
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia, Increased... ORPHA:230
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Confusion, Seizure, Agitation, Cognitive impairment, Emotional lability, Abnormal repetit... ORPHA:927
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Foot joint contracture, Scarring, Proteinuria, Increased blood... ORPHA:90321
Smith-Magenis Syndrome
Toe syndactyly, Hypertriglyceridemia, Failure to thrive in infancy, Abnormality of the ureter, Ob... ORPHA:819
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Thickened ribs, Progressive neurologic deterioration, Aggressive beh... OMIM:252920
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Polyphagia, Obesity ORPHA:66628
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Depression, Attention deficit hyperac... ORPHA:98784
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Bowing of the long bones, Hypertriglyceridemia, Hyperphosphaturia, Rick... ORPHA:2088
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse scalp hair, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anteri... OMIM:619293
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... OMIM:619827
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia, Polyphagia, Obesity OMIM:617885
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Mirage Syndrome
Hyponatremia, Hypospadias, Rocker bottom foot, Thrombocytopenia, Radial club hand, Hyperkalemia, ... OMIM:617053
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Shyness, Seizure, Difficulty walking, Abnormal repetitive mannerisms ORPHA:280763
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Polyphagia, Obesity ORPHA:179494
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Netherton Syndrome
Failure to thrive, Hypereosinophilia OMIM:256500
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Short foot, Compulsive behaviors, Reduction of neutrophil motility, Brachydactyly OMIM:266265
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis, Increased C-peptide level OMIM:615238
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... OMIM:214900
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Highly arched eyebrow, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Ob... OMIM:618825
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Proteinuria, Eosinophilia, Weight loss, Hematuria, Tubulointerstitial nephri... ORPHA:183
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... OMIM:185070
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... OMIM:619632
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmu... ORPHA:77293
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment, Seizure ORPHA:309246
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Highly arched eyebrow, Aggressive behavior, Attention defici... OMIM:618342
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... OMIM:617600
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, Hepatic steatosis ORPHA:79085
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... ORPHA:31150
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly,... OMIM:619418
Christianson Syndrome
Generalized-onset seizure, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Abnorm... ORPHA:85278
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Lipod... OMIM:608594
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Werner Syndrome
Hypertriglyceridemia, Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density OMIM:277700
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesity, Abnormal granulocyte morphol... ORPHA:98907
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Seizure, Gait disturbance, Inappropriate laughter, Febrile seizure (within... OMIM:614104
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia OMIM:609425
Progressive Supranuclear Palsy
Impulsivity, Unsteady gait, Depression, Abnormal synaptic transmission, Dementia, Falls, Cognitiv... ORPHA:683
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Metaphyseal widening, Cone-sha... OMIM:617253
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Attention deficit hype... OMIM:620141
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatomegaly, Proteinuria, Hyperlipidemia, Osteoporosis, Increased hepatic glycogen c... ORPHA:369
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Rocker bottom foot, Dysphagia, Adducted thumb ORPHA:89844
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Hypopigmentation of hair, Abnormal... ORPHA:98794
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... OMIM:608049
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic s... OMIM:619428
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Lead Poisoning
Decreased HDL cholesterol concentration, Small for gestational age, Anorexia, Cranial hyperostosi... ORPHA:330015
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... OMIM:256040
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Thickened ribs, Heparan sulfate excretion in urine, Splenomegaly, De... OMIM:252930
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Depression, Seizure, Dysphagia, Abnormal repetitive mannerisms DECIPHER:45
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Proteinuria,... OMIM:619127
Lopes-Maciel-Rodan Syndrome
Unsteady gait, Bruxism, Seizure, Agitation, Focal impaired awareness seizure, Dysphagia, Abnormal... OMIM:617435
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98855
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Ataxia, Aggressive behavior, Self-injurious behavior, Seizure, Gait disturbance, Comp... OMIM:300986
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Inguinal hernia, Thickened ribs, Heparan sulfate excretion in urine,... OMIM:252900
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Unicameral bone cyst, Genera... ORPHA:79086
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinop... ORPHA:2035
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Radio-Tartaglia Syndrome
Thick eyebrow, Ataxia, Impulsivity, Aggressive behavior, Highly arched eyebrow, Long eyebrows, Sy... OMIM:619312
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Incontinentia Pigmenti
Scarring, Leukocytosis, Supernumerary ribs, Eosinophilia OMIM:308300
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98863
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Microcytic anemia, Short toe, Flexion contracture, Failure to thrive, HbH hemoglobin ORPHA:98791
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98853
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Hypercalcemia, Eosinophilia, Scarring, Porta... ORPHA:797
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal social behavior, Abnormal repe... ORPHA:530983
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Tonic... OMIM:300912
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hepatomegaly, Chronic active hepatitis, Hypertriglycerid... OMIM:203800
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Eisenmenger Syndrome
Brain abscess, Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concent... ORPHA:97214
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thick eyebrow, Aggressive behavior, Synophrys, Low anterior hairline, Self-injurious behavior, Se... OMIM:617061
Developmental And Epileptic Encephalopathy 64
Highly arched eyebrow, Sparse eyebrow, Inability to walk, Low anterior hairline, Self-injurious b... OMIM:618004
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Seizure, Polyphagia, Generalized non-motor (absence) seizure OMIM:613886
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, ... ORPHA:313892
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... ORPHA:760
Xp21 Deletion Syndrome
Hypertriglyceridemia, Confusion, Elevated circulating creatine kinase concentration, Osteoporosis... ORPHA:261476
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Aggressive behavior, Premature graying of hair, Difficulty w... OMIM:123450
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Nocturnal seizures, Myoclonus, Attention deficit hyperact... OMIM:619725
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Focal-onset seizure, Myoclonic sei... OMIM:619092
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Ataxia, Tonic seizure, Repetitive compulsive behavior, Inability to walk, Generalized non-motor (... OMIM:300260
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
48,Xxyy Syndrome
Ataxia, Depression, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive manner... ORPHA:10
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Polyphagia, Obesity, Aggressive behavior ORPHA:329249
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Mucoepithelial Dysplasia, Hereditary
Hematuria, Eosinophilia OMIM:158310
Orthostatic Hypotension 1
Hypomagnesemia, Brachydactyly, Nocturia, Increased blood urea nitrogen OMIM:223360
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Seizure, Tics, Attention deficit hyperactivity disorder OMIM:617808
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Seizure, Diminished ability to concentrate, Compulsive behaviors, Impaired social interac... OMIM:615656
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Self-injurious behavior, Seizure, Skin... OMIM:600430
Schimke Immuno-Osseous Dysplasia
Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas... ORPHA:1830
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Broad-based gait, Bilateral tonic-clonic seizure, Synophrys, Coarse hair, Bruxism, Ab... OMIM:616351
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... OMIM:619573
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Depression, Seizure, Gait disturbance, Abnormal repetitive manner... ORPHA:457240
Pearson Syndrome
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos... ORPHA:699
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... ORPHA:209902
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Synophrys, Irritability, Abnormal repetitive mannerisms ORPHA:391307
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Synophrys, Pica, Low anterior hairline, Irritability, Seizure, Obsessive-compulsiv... OMIM:617796
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ... OMIM:617044
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Splenomegaly, Hyperlipi... OMIM:232220
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Ventral hernia, Inguinal hernia, Hypertriglyceridemia, Arachnodactyly, Sandal gap,... ORPHA:536532
Galloway-Mowat Syndrome 6
Seizure, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Thick eyebrow, Ataxia, Generalized clonic seizure, Inability to walk, Widow... OMIM:619229
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
46,Xy Sex Reversal 4
Ureteropelvic junction obstruction, Elevated circulating creatinine concentration, Hydronephrosis... OMIM:154230
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Synophrys, Self-biting, Seizure, Abnormal repetitive mannerisms ORPHA:3306
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Snijders Blok-Campeau Syndrome
Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Attention deficit hyperacti... OMIM:618205
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Synophrys, S... ORPHA:319182
Microtriplication 11Q24.1
Metatarsus adductus, Hyperlipidemia, Small hand, Obesity, Genu valgum, Short foot, Bruxism, Clino... ORPHA:289522
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obes... OMIM:615980
4Q21 Microdeletion Syndrome
Synophrys, Self-injurious behavior, Seizure, Long eyelashes, Abnormal repetitive mannerisms, Gene... ORPHA:238750
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Seiz... ORPHA:309271
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He... OMIM:248370
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the ga... ORPHA:171
Cushing Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:96253
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactiv... OMIM:619121
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morph... ORPHA:449432
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Inability to walk, Focal-onset seizure, Delayed early-child... ORPHA:300570
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids... OMIM:619769
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Abnormal r... OMIM:619877
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Seizure, Gait disturbance, Impaired social interactions, A... OMIM:300352
Choreoacanthocytosis
Compulsive behaviors, Loss of ambulation, Self-mutilation of tongue and lips due to involuntary m... ORPHA:2388
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping OMIM:617101
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Seizure, Attention deficit hyperactivity disorder, Febrile seizure (within the age range of 3 mon... OMIM:620073
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia, Cognitive impairment ORPHA:364
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Seizure, Progressive gait ataxia, Em... ORPHA:309263
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Synophrys, Irritab... ORPHA:447997
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
5Q14.3 Microdeletion Syndrome
Seizure, Abnormal repetitive mannerisms, Thick eyebrow ORPHA:228384
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia,... OMIM:277460
Acquired Methemoglobinemia
Methemoglobinemia, Confusion ORPHA:464453
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Focal-onset seizure, Seizure, Long eyelashes, Status epilepticus, Dysphagia, A... OMIM:617802
Ritscher-Schinzel Syndrome 4
Curly hair, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset... OMIM:619435
Glycogen Storage Disease Iii
Hepatomegaly, Hyperlipidemia, Hepatic fibrosis, Elevated circulating creatine kinase concentration OMIM:232400
Igg4-Related Ophthalmic Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Cholangitis, Retroperitoneal... ORPHA:449563
Chromosome 5P13 Duplication Syndrome
Low posterior hairline, Self-injurious behavior, Seizure, Compulsive behaviors, Sparse hair, Abno... OMIM:613174
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Highly arched eyebrow, Synophrys, Seizure, Abnormal repetitive mannerisms OMIM:617751
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Hyperactivity, Sandal gap, Hypospadias, Craniosynostosis, Hyperlip... ORPHA:254346
Alazami Syndrome
Abnormal eating behavior, Sparse eyebrow, Seizure, Abnormal repetitive mannerisms, Self-mutilatio... ORPHA:319671
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Upper limb undergrowth, Obesit... ORPHA:369837
Coffin-Siris Syndrome 7
Sparse scalp hair, Hyperactivity, Severe temper tantrums, Compulsive behaviors, Hypoplastic fifth... OMIM:618027
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Attention deficit hyperactivity disorder, Frequent temper tantrums, Abnorm... OMIM:619103
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Seizure, Abnormal repetitive mannerisms OMIM:613443
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias OMIM:250790
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Hypoglycemic seizures, Irritability, Self-inju... OMIM:616364
2Q37 Microdeletion Syndrome
Sparse scalp hair, Highly arched eyebrow, Supernumerary nipple, Sparse eyebrow, Seizure, Compulsi... ORPHA:1001
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality, Agitation, Progressive l... OMIM:607485
48,Xxxy Syndrome
Irritability, Seizure, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorm... ORPHA:96263
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati... ORPHA:239
Potocki-Lupski Syndrome
Seizure, Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia OMIM:610883
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Highly arched eyebrow, Infantile spasms, Inability to walk, Gener... ORPHA:457351
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Prolonged ne... ORPHA:423479
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Compulsive behaviors, Abnormal repetitive ma... OMIM:618430
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Seizure, Impaired social interactions, Attention deficit hyperactivity disorder,... ORPHA:261197
22Q11.2 Duplication Syndrome
Seizure, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit hyperactivity di... ORPHA:1727
Tuberous Sclerosis Complex
Hyperactivity, Epileptic spasm, Impulsivity, Aggressive behavior, Infantile spasms, Repetitive co... ORPHA:805
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Seizure, Low frustration tolerance, Abnormal repetitive mannerisms, S... OMIM:300486
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Abnormal repetitive mannerisms ORPHA:85277
Rett Syndrome, Congenital Variant
Tongue thrusting, Irritability, Athetosis, Seizure, Impaired social interactions, Bruxism, Abnorm... OMIM:613454
Fg Syndrome Type 1
Broad-based gait, Hydrocephalus, Seizure, Frontal upsweep of hair, Compulsive behaviors, Attentio... ORPHA:93932
Hijazi-Reis Syndrome
Seizure, Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Synophrys, Gait ataxia, Seizure, Compulsive behaviors, Attention deficit hyp... ORPHA:476126
Phelan-Mcdermid Syndrome
Broad-based gait, Aggressive behavior, Hypoplastic toenails, Toenail dysplasia, Tongue thrusting,... OMIM:606232
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonic seizure, Synophrys, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictiv... OMIM:619475
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Highly arched eyebrow, Low anterior hairline, Generalized non-mot... OMIM:615802
Niemann-Pick Disease Type C
Generalized-onset seizure, Ataxia, Progressive neurologic deterioration, Aggressive behavior, Foc... ORPHA:646
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... OMIM:233450
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Generalized-onset seizure, Gait ataxia, Difficulty walking, Abnormal repetitive... OMIM:617807
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Tapered finger, Coxa valga, Abnormal repetitive mannerisms, Reduced alpha/beta synth... OMIM:301040
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Dorsocervical fat pad, Paradoxical i... ORPHA:99889
Alagille Syndrome 1
Hypoplasia of the ulna, Hypertriglyceridemia, Hepatocellular carcinoma, Exocrine pancreatic insuf... OMIM:118450
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Abnormal hemoglobin, Flexion contracture, Self-injurious behavior, Clinodact... ORPHA:847
3P25.3 Microdeletion Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici... ORPHA:435638
Nmda Receptor Encephalitis
Short attention span, Generalized-onset seizure, Confusion, Hypersexuality, Focal-onset seizure, ... ORPHA:217253
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Inguinal hernia, Hyperactivity, Congenital diaphragmatic hernia, Long fingers,... OMIM:614294
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Short femur, ... OMIM:264090
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Sple... ORPHA:567983
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Supernumerary nipple, Aggressive behavior, Unsteady gait, Seizure, Low frustration tolera... ORPHA:457279
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Tropical Endomyocardial Fibrosis
Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Hypoalbuminemia ORPHA:75565
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Pilarowski-Bjornsson Syndrome
Seizure, Long eyelashes, Abnormal repetitive mannerisms, Broad eyebrow OMIM:617682
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Aggressive behavior, Unsteady gait, Hirsutism, Seizure, Long eyelashes, Sparse hai... OMIM:212066
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Abnormal repetitive mannerisms, Thick eyebrow ORPHA:529965
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Atypical Werner Syndrome
Sclerosis of hand bone, Failure to thrive, Hypertriglyceridemia, Lipoatrophy, Rocker bottom foot,... ORPHA:79474
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Seizure, Abnormal repetitive mannerisms, Highly arched eyebrow ORPHA:500159
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... OMIM:616393
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Head-banging, Seizure, Compulsive behaviors, Impaired social interactio... ORPHA:177907
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig... ORPHA:99867
Trichotillomania
Hair-pulling, Alopecia, Compulsive behaviors OMIM:613229
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Abnormal repetitive mannerisms, Supernumerary nipple, Overfriendliness OMIM:616579
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Synophrys, ... OMIM:619777
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Bainbridge-Ropers Syndrome
Thick eyebrow, Highly arched eyebrow, Supernumerary nipple, Inability to walk, Synophrys, Self-in... OMIM:615485
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... OMIM:256300
Glycerol Kinase Deficiency
Hypertriglyceridemia, Small for gestational age, Increased urinary glycerol, Hyperglycerolemia, C... OMIM:307030
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling,... OMIM:620330
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Hydrocephalus, Head-banging, Self-injurious behavior, Seizure, Attention de... OMIM:619575
Microphthalmia, Syndromic 9
Inguinal hernia, Congenital diaphragmatic hernia, Multilobulated spleen, Renal hypoplasia, Horses... OMIM:601186
Methanol Poisoning
Hyperlipidemia, Addictive alcohol use, Confusion ORPHA:31825
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social ... ORPHA:309256
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Seizure, Myo... OMIM:300672
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hyperli... OMIM:232240
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Wide penis, Vesicoureteral reflux, Dilatation of renal calices, Hepatic steatosis, Lo... ORPHA:3455
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms ORPHA:397612
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Myoclonic seizure, Abnormal repetitive mannerisms, Infantile spasms, Dysphagia ORPHA:572013
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Sparse anterior scalp hair, Hydrocephalus, Uns... ORPHA:96121
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias OMIM:610644
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Dihydropyrimidine Dehydrogenase Deficiency
Short nail, Inability to walk, Focal motor seizure, Irritability, Seizure, Long eyelashes, Febril... ORPHA:1675
Viss Syndrome
Long toe, Inguinal hernia, Arachnodactyly, Rocker bottom foot, Hypereosinophilia, Hip dislocation... OMIM:619472
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy ORPHA:363618
Relapsing Fever
Neutrophilia, Thrombocytopenia, Leukocytosis, Hematuria, Leukopenia, Acute kidney injury, Anemia ORPHA:91547
Niemann-Pick Disease, Type C2
Ataxia, Seizure, Dementia, Dysphagia, Abnormal repetitive mannerisms OMIM:607625
Legius Syndrome
Short attention span, Hyperactivity, Acute monocytic leukemia, Nephrolithiasis, Diaphyseal dyspla... ORPHA:137605
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Ataxia, Bilateral tonic-clonic seizure, Sparse eyebrow, Dysphagia, Febrile seizure (within the ag... ORPHA:496641
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Van Esch-O'Driscoll Syndrome
Impulsivity, Shyness, Seizure, Attention deficit hyperactivity disorder, Spina bifida occulta, Ab... OMIM:301030
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia ORPHA:1302
Rett Syndrome
Inability to walk, Seizure, Gait disturbance, Agitation, Difficulty walking, Abnormal repetitive ... ORPHA:778
Kleefstra Syndrome 1
Aggressive behavior, Synophrys, Seizure, Compulsive behaviors, Abnormal repetitive mannerisms OMIM:610253
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory i... ORPHA:314647
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Xanthelasma, Focal segm... OMIM:232200
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Aqueductal stenosis, Hydrocephalus,... OMIM:619512
Neutral Lipid Storage Myopathy
Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Obesity, Abnormal circulating creatine ... ORPHA:98908
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Seizure, Long eyelashes, Attention deficit hyperactivity disorder, Abnorma... OMIM:619005
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Bruxism, D... OMIM:615873
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Abnormal fingertip morphology, Hyperlipidemia, Osteolysis, Generalized lipodystrophy,... ORPHA:90154
Fabry Disease
Renal insufficiency, Proteinuria, Anorexia, Hyperlipidemia, Abnormal femur morphology, Reduced bo... ORPHA:324
Transketolase Deficiency
Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ... ORPHA:488618
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly, Flaring of rib cage, Broad ribs OMIM:612852
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Diami... OMIM:207800
Pitt-Hopkins Syndrome
Hyperconvex nail, Supernumerary nipple, Gait ataxia, Self-injurious behavior, Seizure, Frontal up... OMIM:610954
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Gen... OMIM:614756
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Pilomatrixoma, S... ORPHA:353281
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Kleefstra Syndrome
Highly arched eyebrow, Aggressive behavior, Supernumerary nipple, Synophrys, Self-injurious behav... ORPHA:261494
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Short attention span, Multifocal seizures, Aggressive behavior, Synophrys, Seizure, Abnormal repe... OMIM:301066
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Short attention span, Hyperactivity, Progressive neurologic deterior... ORPHA:580
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Ketonuria, Glycosuria ORPHA:2089
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Focal impaired awareness se... ORPHA:468678
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Highly arched eyebrow, Aggressive behavior OMIM:619695
Foxg1 Syndrome Due To 14Q12 Microdeletion
Seizure, Abnormal repetitive mannerisms ORPHA:261144
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... ORPHA:565612
Familial Multiple Lipomatosis
Increased adipose tissue, Hyperlipidemia, Lipodystrophy, Bowing of the long bones ORPHA:199276
Kinsship Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Synophrys, Generalized non-motor (absence) s... OMIM:619297
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Fair hair, Generalized-onset seizure, Spina bifida, Focal hemiclonic seizure, Focal-ons... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Fair hair, Generalized-onset seizure, Spina bifida, Focal hemiclonic seizure, Focal-ons... ORPHA:363958
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Urinary incontinence, Acanthocytosis, Phonic tics, Dementia, Dysphagia, Mental det... OMIM:234200
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Gait disturbance ORPHA:213
Megalocornea-Intellectual Disability Syndrome
Seizure, Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Abnormal location of the eyebrow, Repetitive compulsive behavior, Widow's peak, Self-biti... ORPHA:522077
Aromatase Deficiency
Eunuchoid habitus, Osteopenia, Enlarged polycystic ovaries, Hyperlipidemia, Delayed epiphyseal os... ORPHA:91
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Anemia ORPHA:54251
Hereditary Sensory And Autonomic Neuropathy Type 4
Short attention span, Fasciitis, Nail-biting, Hyperactivity, Abscess, Impulsivity, Self-mutilatio... ORPHA:642
Monosomy 22Q13.3
Hyperactivity, Hypoplastic toenails, Hair-pulling, Seizure, Long eyelashes, Bruxism, Thick eyebrow ORPHA:48652
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Ataxia, Synophrys, Dysmetria, Gait ataxia, Dysphagia, Seizure, Horizontal eyebr... OMIM:617330
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Micropenis, Hepati... ORPHA:64
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Highly arched eyebrow, Infantile spasms, Foc... OMIM:301044
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Dermatomyositis
Cellulitis, Abnormal eosinophil morphology, Chondrocalcinosis, Weight loss ORPHA:221
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Simple febrile seizure, Seizure, Gait disturbance, Attention deficit hyperactivity disorder, Abno... ORPHA:464311
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Flexion contracture, Osteolysis, Osteolytic defects of the distal phalanges of th... ORPHA:90153
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Highly arched eyebrow, Abnormal fear-induced beh... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Highly arched eyebrow, Abnormal fear-induced beh... ORPHA:353277
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Craniorachischisis
Bifid sternum ORPHA:63260
Mend Syndrome
Hyperactivity, Aggressive behavior, Hydrocephalus, Seizure, Abnormal social behavior ORPHA:401973
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Hyperlipidemia, Chronic kidney disease, Elevated ... ORPHA:439232
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Hyperuricemia ORPHA:35909
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Depression, Fine hair, Self-injurious behavior, Seizure, Compulsive behaviors,... ORPHA:534
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... ORPHA:513456
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Seizure, Gait disturbance, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:464306
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Primrose Syndrome
Restlessness, Sparse scalp hair, Ataxia, Absent facial hair, Aggressive behavior, Synophrys, Self... OMIM:259050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Unsteady gait, Seizure, Sparse hair, Nail dysplasia, Loss of ambulation, Abnormal repetitive mann... OMIM:616682
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Sparse eyebrow, Fine hair, Irritabilit... OMIM:300855
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Tapere... OMIM:303600
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Lobar holoprosencephaly ORPHA:468631
Coffin-Siris Syndrome 12
Sparse scalp hair, Highly arched eyebrow, Synophrys, Low anterior hairline, Noncommunicating hydr... OMIM:619325
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Low posterior hairline, Seizure, Small nail, Abnormal repetitive mannerisms OMIM:309590
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms, Spina bifida, Hypertrichosis ORPHA:508498
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Abnormal repetitive mannerisms, Supernumerary nipple, Difficulty walking OMIM:618653
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Obesity, Self-injurious behavior... ORPHA:293987
Arboleda-Tham Syndrome
Highly arched eyebrow, Seizure, Gait imbalance, Thin eyebrow, Dysphagia, Sparse medial eyebrow, A... OMIM:616268
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Norrie Disease
Irritability, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, Abnorma... ORPHA:649
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Frontal balding, Highly arched eyebrow, Synophrys, Generalized no... OMIM:612474
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Polyphagia, Self-injurious behavior, Seizure, Gait disturbance, Hori... ORPHA:1606
Williams Syndrome
Ataxia, Abnormal fingernail morphology, Hypoplastic toenails, Spina bifida occulta, Dysmetria, De... ORPHA:904
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypoplastic toenails, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Abnormal repe... OMIM:619522
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Hydrocephalus, Low posterior hairline, Hyperconvex fingernails, Seizure, A... OMIM:194190
Woodhouse-Sakati Syndrome
Mental deterioration, Osteopenia, Hyperlipidemia, Micropenis ORPHA:3464
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Inability to walk, Focal-onset seizure, Dysphagia, Seizure, Status epil... ORPHA:2152
Lowe Oculocerebrorenal Syndrome
Seizure, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Inability to walk, Focal-onset seizure, Bruxism, Seizure, Atypical absence seiz... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Highly arched eyebrow, Inability to walk, Focal-onset seizure, Bruxism, Seizure... ORPHA:261552
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Renal artery stenosis, Hypercholesterole... ORPHA:391665

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 Nexmif

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 Nexmif.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The autism spectrum disorder risk gene NEXMIF over-synchronizes hippocampal CA1 network and alters neuronal coding. Frontiers in neuroscience (October 2023) Nexmiftm1(KOMP)Wtsi PMC10641898
NEXMIF/KIDLIA Knock-out Mouse Demonstrates Autism-Like Behaviors, Memory Deficits, and Impairments in Synapse Formation and Function. The Journal of neuroscience : the official journal of the Society for Neuroscience (November 2019) Nexmiftm1(KOMP)Wtsi 31704787

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
Nexmifem1(IMPC)Tcp Intra-exon deletion Mice
Nexmiftm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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